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Sample records for infants newborn screening

  1. Screening for congenital hypothyroidism (CH) among Filipino newborn infants. Philippine Newborn Screening Study Group.

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    Fagela-Domingo, C; Padilla, C D; Cutiongco, E M

    1999-01-01

    From June 1996 to June 1998 a total of 62.841 newborn infants were screened for congenital hypothyroidism with thyroid stimulating hormone assay as a primary test. The method used was an immunofluorescent assay using the DELFIA TSH Kit on dried blood specimens collected by heelprick on filter paper. All infants with TSH values greater than 20 microU/ml were retested. If the results remained abnormally high, confirmatory testing was done by radioimmunoassay. All infants who were confirmed to be hypothyroid were referred to pediatric endocrinologists for initial management. The overall weighted incidence of congenital hypothyroidism obtained in this study was 0.000277 (95% CI; 0.000122 - 0.000432) or 1:3,610 which may be higher than that reported by most screening programs worldwide. The recall rate was 0.16%. The higher recall rate may be explained by early testing in a number of cases and by the possibility of iodine deficiency in some of the mothers. On the basis of the results of this study, we would recommend (1) screening on a greater number of infants to verify the incidence of CH and (2) establishing normal TSH values at different hours of life to improve our recall rate.

  2. Results of a Targeted Screening Program for Congenital Cytomegalovirus Infection in Infants Who Fail Newborn Hearing Screening.

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    Vancor, Emily; Shapiro, Eugene D; Loyal, Jaspreet

    2018-01-24

    Congenital cytomegalovirus (CMV) infection is a major cause of sensorineural hearing loss. By law, newborns in Connecticut who fail newborn hearing screening are tested for infection with CMV. This targeted screening is controversial, because most children with congenital CMV infection are asymptomatic, and CMV-related hearing loss can have a delayed onset. Our hospital uses a saliva polymerase chain reaction (PCR) assay (confirmed by a urine PCR assay) to detect CMV. Here, we report the results of the first year of our screening program. We reviewed the medical records of newborns in the Yale New Haven Health System who failed the newborn hearing screening test between January 1 and December 31, 2016. Of 10964 newborns, 171 failed newborn hearing screening, and 3 of these newborns had positive saliva CMV PCR test results. Of these 3 newborns, 2 had positive results on the confirmatory test (for 1 of them the confirmatory test was not performed until the infant was 10 weeks old), and 1 had a negative result on the confirmatory test. Three additional newborns with congenital CMV infection were tested because of clinical indications (1 for ventriculomegaly on prenatal ultrasound and 2 for CMV infection of the mother). Results of audiology follow-up were available for 149 (87.1%) of the 171 newborns who failed newborn hearing screening; 127 (85.2%) had normal results. Our targeted screening program for congenital CMV infection had a low yield. Consideration should be given to other strategies for identifying children at risk of hearing loss as a result of congenital CMV infection. © The Author(s) 2018. Published by Oxford University Press on behalf of The Journal of the Pediatric Infectious Diseases Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  3. Newborn hearing screening and strategy for early detection of hearing loss in infants.

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    Jakubíková, Janka; Kabátová, Zuzana; Pavlovcinová, Gabriela; Profant, Milan

    2009-04-01

    More than 80% of permanent hearing losses (HL) in children are congenital. Newborn hearing screening (NHS) is the best method for early detection of suspected hearing loss. If the NHS is not universal more than 30% permanent hearing losses are not identified. There are various methods of NHS: otoacoustic emissions (TEOAE, DPOAE) and automatic auditory brainstem response (AABR). After hearing screening, and when hearing loss is suspected, tympanometry and audiological methods then used for determination of hearing threshold; these include ABR, ASSR or/and behavioral methods. The goal of this study is to evaluate the influence of UNHS on the early detection of hearing loss in children before and after the implementation of obligatory universal newborn hearing screening in Slovakia, and also on the etiologic evaluation of hearing impaired infants identified by screening. In Slovakia NHS started in 1998 and was provided in ENT departments. From May 1, 2006 UNHS has been mandatory in Slovakia, using two stages TEOAE in all newborn departments in Slovakia (64 newborn departments). In year 2005--42% of newborns in Slovakia were screened, in 2006--66% newborns and in 2007--94, 99% (three small newborn departments do not yet have equipment for OAE screening). For determination of hearing thresholds ASSR are used in two ENT departments and ABR in the other four ENT departments. Comparing the number of identified cases with bilateral severe permanent HL or deafness before and after UNHS, 22.8% more cases of PHL were identified in the first year of UNHS. Also the average age of diagnosis of PHL was lower. In the year 2007, 94% of newborns were screened. We found 0.947/1000 newborns with bilateral severe PHL (35.9%) more than before UNHS). After audiologic and etiologic assessment of the 76 infants who failed screening, 5 (6.58%) were found to have normal hearing, 16 (22.54%) had unilateral and 55 (77.46%) had bilateral SNHL. A non-syndromic genetic cause was present in 25

  4. Retinal and Optic Nerve Hemorrhages in the Newborn Infant: One-Year Results of the Newborn Eye Screen Test Study.

    Science.gov (United States)

    Callaway, Natalia F; Ludwig, Cassie A; Blumenkranz, Mark S; Jones, Jennifer Michelle; Fredrick, Douglas R; Moshfeghi, Darius M

    2016-05-01

    To report the birth prevalence, risk factors, characteristics, and location of fundus hemorrhages (FHs) of the retina and optic nerve present in newborns at birth. Prospective cohort study at Stanford University School of Medicine. All infants who were 37 weeks postmenstrual age or older and stable were eligible for screening. Infants with known or suspected infectious conjunctivitis were excluded. Infants born at Lucile Packard Children's Hospital (LPCH) from July 25, 2013, through July 25, 2014, were offered universal newborn screening via wide-angle digital retinal photography in the Newborn Eye Screen Test study. Maternal, obstetric, and neonatal factors were obtained from hospital records. The location, retinal layer, and laterality of FH were recorded by 1 pediatric vitreoretinal specialist. Birth prevalence of FH. Secondary outcomes included rate of adverse events, risk factors for FH, hemorrhage characteristics, and adverse events. The birth prevalence of FH in this study was 20.3% (41/202 infants). Ninety-five percent of FHs involved the periphery, 83% involved the macula, and 71% involved multiple layers of the retina. The fovea was involved in 15% of FH cases (birth prevalence, 3.0%). No cases of bilateral foveal hemorrhage were found. Fundus hemorrhages were more common in the left eye than the right. Fundus hemorrhages were most commonly optic nerve flame hemorrhages (48%) and white-centered retinal hemorrhages (30%). Retinal hemorrhages were found most frequently in all 4 quadrants (35%) and more often were multiple than solitary. Macular hemorrhages most often were intraretinal (40%). Among the risk factors examined in this study, vaginal delivery compared with cesarean section (odds ratio [OR], 9.34; 95% confidence interval [CI], 2.57-33.97) showed the greatest level of association with FH. Self-identified ethnicity as Hispanic or Latino showed a protective effect (OR, 0.43; 95% CI, 0.20-0.94). Other study factors were not significant. Fundus

  5. Permanent Childhood Hearing Impairment: Aetiological Evaluation of Infants identified through the Irish Newborn Hearing Screening Programme

    LENUS (Irish Health Repository)

    Smith, A

    2017-11-01

    The Newborn Hearing Screening Programme (NHSP) was established in Cork University Maternity Hospital (CUMH) in April 2011. Between April 2011 and July 2014, 42 infants were identified with a Permanent Childhood Hearing Impairment (PCHI). Following this diagnosis, infants underwent a paediatric assessment according to recognised guidelines with the intention of identifying the underlying aetiology of the PCHI. The aim of this study was to assess the findings of this aetiological workup via retrospective chart review. PCHI data was obtained from the eSP database. This is a web based information system (eSP) used to track each baby through the screening and referral process A retrospective chart review of these patients was performed. Sixteen (38%) infants were diagnosed with a bilateral sensorineural hearing loss. Two infants had congenital CMV infection. A Connexin 26 gene mutation was detected in one infant. Two infants were diagnosed with Waardenburg syndrome, One with Pendred syndrome and one with Pfeiffer syndrome. Five babies underwent cochlear implantation. Through adherence to the recommended protocol a possible cause of PCHI may be determined. This study has identified areas of future improvement for this service in Ireland.

  6. Neurological outcomes in symptomatic congenital cytomegalovirus-infected infants after introduction of newborn urine screening and antiviral treatment.

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    Nishida, Kosuke; Morioka, Ichiro; Nakamachi, Yuji; Kobayashi, Yoko; Imanishi, Takamitsu; Kawano, Seiji; Iwatani, Sota; Koda, Tsubasa; Deguchi, Masashi; Tanimura, Kenji; Yamashita, Daisuke; Nibu, Ken-Ichi; Funakoshi, Toru; Ohashi, Masanobu; Inoue, Naoki; Iijima, Kazumoto; Yamada, Hideto

    2016-02-01

    Newborn screening for urinary cytomegalovirus (CMV) and early introduction of antiviral treatment are expected to improve neurological outcomes in symptomatic congenital CMV-infected infants. This cohort study prospectively evaluated neurological outcomes in symptomatic congenital CMV-infected infants following the introduction of hospital-based newborn urinary CMV screening and antiviral treatment. Following institutional review board approval and written informed consent from their parents, newborns were prospectively screened from 2009 to 2014 for urinary CMV-DNA by PCR within 1 week after birth at Kobe University Hospital and affiliated hospitals. CMV-positive newborns were further examined at Kobe University Hospital, and those diagnosed as symptomatic were treated with valganciclovir for 6 weeks plus immunoglobulin. Clinical neurological outcomes were evaluated at age ⩾12 months and categorized by the presence and severity of neurologic sequelae. Urine samples of 6348 newborns were screened, with 32 (0.50%) positive for CMV. Of these, 16 were diagnosed with symptomatic infection and 12 received antiviral treatment. Four infants developed severe impairment (33%), three developed mild impairment (25%), and five developed normally (42%). This is the first Japanese report of neurological assessments in infants with symptomatic congenital CMV infection who received early diagnosis and antiviral treatment. Urinary screening, resulting in early diagnosis and treatment, may yield better neurological outcomes in symptomatic congenital CMV-infected infants. Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  7. Results of ultrasound screening of the hips in newborns and infants

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    Džoleva-Tolevska Roza

    2012-01-01

    Full Text Available The aim of this study is to analyze the results of ultrasound screening of the hips in newborns and infants and to establish the importance of ultrasonography in early diagnosis and treatment of developmental dysplasia of the hips (DDH. Material and Methods: In 2010, at the Clinic for orthopedic surgery in Skopje, 6333 newborns and infants were examined. They were classified in 2 groups: first group consisted of patients with normal ultrasound findings and second group consisted of patients with DDH on ultrasound finding. Patients underwent clinical examination and ultrasonography of the hips. Results: We examined 6333 newborns and infants up to 6 months of age. 3213 were female and 3120 were male. In the first group there were 5932 (93.67% patients with normal ultrasound of the hip-Graf Type 1. In the second group there were 401 (6.33% patients with DDH on ultrasound. The patients of the second group were divided in 3 types according to Graf method. Graf Type 2-Patients with dysplasia 378 (5.97% subdivided in 2a- 260 (4.11% patients, 2b 85 (1.34% patients and 2c 33 (0.52% patients. Graf Type 3 - Patients with subluxation of the hip 9 (0.1%, subdivided in 3a 3 (0.05% patients and 3b 3 (0.5% patients. Graf Type 4 -Patients with luxation of the hip 17 (0.27% patients. 124 patients (30.5% with DDH had an associated risk factors (65 patients with positive family history, 48 patients with breech delivery and 11 patients with clubfoot deformity. 387 patients with dysplasia and subluxation of the hips were treated with abduction brace and Pavlik harness. 17 patients with luxation of the hips were treated with exercises and overhead traction of the muscles, close reduction of the hip placed in spica cast or open reduction. Conclusion: Ultrasound screening of hips in newborns and infants is important for early diagnosis of DDH. This is necessary for adequate treatments. If this disease is not treated properly it gives long term morbidity such as gait

  8. Sensorineural and conductive hearing loss in infants diagnosed in the program of universal newborn hearing screening.

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    Wroblewska-Seniuk, Katarzyna; Dabrowski, Piotr; Greczka, Grazyna; Szabatowska, Katarzyna; Glowacka, Agata; Szyfter, Witold; Mazela, Jan

    2018-02-01

    The aim of this study was to analyze infants diagnosed with sensorineural or conductive hearing deficit and to identify risk factors associated with these defects. A retrospective analysis of infants diagnosed with hearing deficit based on the database of the universal newborn hearing screening program and medical records of the patients. 27 935 infants were covered by the universal neonatal hearing screening program. 109 (0.39%) were diagnosed with hearing deficit and referred for treatment and rehabilitation. 56 (51.4%) children were diagnosed with conductive, 38 (34.9%) with sensorineural and 15 (13.8%) with mixed type of hearing deficit. Children with sensorineural hearing deficit more frequently suffered from hyperbilirubinemia (p conductive hearing loss were more frequently diagnosed with isolated craniofacial anomalies (p hearing deficit occurred almost 3 times more often bilaterally than unilaterally (p hearing deficit, the difference was not significant. In children with conductive and mixed type of hearing loss the impairment was mainly mild while among those with sensorineural hearing deficit in almost 45% it was severe and profound (p hearing screening test by means of otoacoustic emissions and the final diagnosis of hearing deficit we found that the highest agreement rate was observed in children with sensorineural hearing loss (p hearing deficit was similar in children with sensorineural, conductive and mixed type of hearing loss, only hyperbilirubinemia seemed to predispose to sensorineural hearing deficit and isolated craniofacial malformations seemed to be associated with conductive hearing loss. Sensorineural hearing deficit usually occurred bilaterally and was severe or profound, while conductive and mixed type of hearing deficit were most often of mild degree. Most children with the final diagnosis of sensorineural hearing deficit had positive result of hearing screening by means of otoacoustic emissions. Copyright © 2017 Elsevier B.V. All

  9. Newborn hearing screening.

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    Stewart, D L; Pearlman, A

    1994-11-01

    Congenital deafness is a relatively common problem with an incidence of 1/300 to 1/1000. Most states have no mass screening program for hearing loss, but the state of Kentucky compiles a High Risk Registry which is a historical survey of parents relating to risk factors for hearing loss. Unfortunately this survey can miss 50% of those who have a hearing deficit. If not detected prior to discharge, there is often a delay in diagnosis of deafness which prevents early intervention. We report 2 years' experience at Kosair Children's Hospital where 1,987 infants admitted to well baby, intermediate, or intensive care nurseries were screened using the ALGO-1 screener (Natus Medical Inc, Foster City, CA) which is a modified auditory brain stem evoked response (ABR). Our screening of this population led to an 11% incidence of referral for complete audiological evaluation. There were no significant complications. Forty-eight infants were found to have nonspecified, sensorineural, or conductive hearing loss. The positive predictive value of the test was 96%. Therefore, we feel that the use of the modified ABR in the newborn is a timely, cost efficient method of screening for hearing loss and should be used for mass screening of all newborns.

  10. Hearing Loss: Screening Newborns

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    ... of this page please turn JavaScript on. Feature: Hearing Loss Screening Newborns Past Issues / Spring 2015 Table ... deafness, which account for most cases. Screening Newborns' Hearing Now Standard In 1993, children born in the ...

  11. Detection of cytomegalovirus DNA in dried blood spots of Minnesota infants who do not pass newborn hearing screening.

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    Choi, K Yeon; Schimmenti, Lisa A; Jurek, Anne M; Sharon, Bazak; Daly, Kathy; Khan, Cindy; McCann, Mark; Schleiss, Mark R

    2009-12-01

    Up to 15% of infants with asymptomatic congenital cytomegalovirus (CMV) infection will experience some degree of sensorineural hearing loss. Many infants who fail newborn hearing screening (NHS) are likely to have congenital CMV infection, but may escape definitive virologic identification because diagnostic evaluation may not commence until several weeks or months of age, making differentiation between congenital and postnatal CMV infection difficult. Early diagnosis linking virologic identification of congenital CMV infection to infants failing NHS may improve diagnostic precision and enhance opportunities for therapeutic intervention. The goal of this study was to compare newborn dried blood spots from Minnesota infants who had failed NHS, and were designated for referral, with control infants who passed NHS, for the presence of CMV DNA by real-time PCR, using hybridization probes for the CMV gene UL54. Of 479 infants with a failed NHS (bilateral failure), 13 had CMV DNA present in the blood spot (2.7%). This compared with only 2/479 positive results from a control group of infants who passed the NHS (0.4%; P = 0.007, Fisher exact test). Comparisons of the glycoprotein B (gB) genotype as well as direct DNA sequencing of selected positives revealed that PCR positive samples represented unique clinical isolates. The mean viral load among the 15 positive samples was 1.6 x 10(3) genomes/microgram of total DNA. Newborn bloodspot CMV screening by real-time PCR may be a useful and rapid adjunct to functional NHS and may enable more rapid etiologic diagnosis of sensorineural hearing loss in newborns.

  12. Conductive hearing loss and middle ear pathology in young infants referred through a newborn universal hearing screening program in Australia.

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    Aithal, Sreedevi; Aithal, Venkatesh; Kei, Joseph; Driscoll, Carlie

    2012-10-01

    Although newborn hearing screening programs have been introduced in most states in Australia, the prevalence of conductive hearing loss and middle ear pathology in the infants referred through these programs is not known. This study was designed to (1) evaluate the prevalence of conductive hearing loss and middle ear pathology in infants referred by a newborn hearing screening program in north Queensland, (2) compare prevalence rates of conductive hearing loss and middle ear pathology in indigenous and nonindigenous infants, and (3) review the outcomes of those infants diagnosed with conductive hearing loss and middle ear pathology. Retrospective chart review of infants referred to the Audiology Department of The Townsville Hospital was conducted. Chart review of 234 infants referred for one or both ears from a newborn hearing screening program in north Queensland was conducted. A total of 211 infants attended the diagnostic appointment. Review appointments to monitor hearing status were completed for 46 infants with middle ear pathology or conductive hearing loss. Diagnosis of hearing impairment was made using an age-appropriate battery of audiological tests. Results were analyzed for both initial and review appointments. Mean age at initial diagnostic assessment was 47.5 days (SD = 31.3). Of the 69 infants with middle ear pathology during initial diagnostic assessment, 18 had middle ear pathology with normal hearing, 47 had conductive hearing loss, and 4 had mixed hearing loss. Prevalence of conductive hearing loss in the newborns was 2.97 per 1,000 while prevalence of middle ear pathology (with or without conductive hearing loss) was 4.36 per 1,000. Indigenous Australians or Aboriginal and Torres Strait Islander (ATSI) infants had a significantly higher prevalence of conductive hearing loss and middle ear pathology than non-ATSI infants (35.19 and 44.45% vs 17.83 and 28.66%, respectively). ATSI infants also showed poor resolution of conductive hearing loss

  13. Newborn screening for galactosaemia.

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    Lak, Rohollah; Yazdizadeh, Bahareh; Davari, Majid; Nouhi, Mojtaba; Kelishadi, Roya

    2017-12-23

    Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced. Affected babies may present with any or all of the following: cataracts; fulminant liver failure; prolonged jaundice; or Escherichia coli sepsis. Once the diagnosis is suspected, feeds containing galactose must be stopped immediately and replaced with a soya-based formula. The majority of babies will recover, however a number will not survive. There are long-term complications of galactosaemia, despite treatment, including learning disabilities and female infertility. It has been postulated that galactosaemia could be detected on newborn screening and this would prevent the immediate severe liver dysfunction and sepsis. To assess whether there is evidence that newborn screening for galactosaemia prevents or reduces mortality and morbidity and improves clinical outcomes in affected neonates and the quality of life in older children. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register comprising references identified from electronic database searches, handsearches of relevant journals and conference abstract books. We also searched online trials registries and the reference lists of relevant articles and reviews.Date of the most recent search of Cochrane Cystic Fibrosis Group's Trials Register: 18 December 2017.Date of the most recent search of additional resources: 11 October 2017. Randomised controlled studies and controlled clinical studies, published or unpublished comparing the use of any newborn screening test to diagnose infants with galactosaemia and presenting a comparison between a screened population versus a non-screened population. No studies of newborn screening for galactosaemia were found. No studies were identified for inclusion in the

  14. What follows newborn screening? An evaluation of a residential education program for parents of infants with newly diagnosed cystic fibrosis.

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    Sawyer, Susan M; Glazner, Judith A

    2004-08-01

    The diagnosis of a severe life-limiting condition, such as cystic fibrosis (CF), is generally followed by assessment and treatment of the child and education and counseling for parents. The introduction of newborn screening for CF provides an opportunity for standardized assessment and education. The aim of this study was to evaluate a 5-day residential assessment and education program for parents of infants who receive a diagnosis of CF after newborn screening. Eligible parents had a 6- to 30-month-old infant with CF diagnosed by newborn screening. Parents were interviewed by telephone using a structured questionnaire that addressed 3 main themes: 1) initial communication of the diagnosis of CF, 2) the perceived value of the 5-day assessment and education program, and 3) the perceived advantages and disadvantages of the residential component (Care-By-Parent unit) of the program. Fifteen of 17 eligible families took part in the 5-day assessment and education program, 12 of whom used the residential Care-By-Parent unit. At the end of the program, parents believed that they had the knowledge and skills required to manage their child's CF at home. One hundred percent endorsed the timing of the assessment and education program immediately after the child's diagnosis and would recommend it to other families in the same situation. Perceived advantages of the residential program were not having to travel (89%), being able to concentrate on CF (50%), and the benefit of a "home base" at the hospital (39%). Twenty-two percent reported that financial costs related to participation (paternal time off work) were a disadvantage, 17% reported additional strain on family members caring for siblings, and 17% mentioned lack of comfort within the unit. This time-intensive residential program was evaluated positively by parents of children with newly diagnosed CF. It provides a model for education programs after the diagnosis of CF by newborn screening, as well as for other pediatric

  15. Retinal and Optic Nerve Hemorrhages in the Newborn Infant: One-year Results of the Newborn Eye Screen Test (NEST) Study

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    Callaway, Natalia F.; Ludwig, Cassie A.; Blumenkranz, Mark S.; Jones, Jennifer Michelle; Fredrick, Douglas R.; Moshfeghi, Darius M.

    2016-01-01

    Purpose To report the birth prevalence, risk factors, characteristics and location of fundus hemorrhages (FH) of the retina and optic nerve present in newborns at birth. Design Prospective cohort study at Stanford University School of Medicine. Participants All infants who were 37 weeks postmenstrual age or older and were deemed stable by their pediatrician were eligible for screening. Infants who were anophthalmic or had known or suspected infectious conjunctivitis were excluded. Methods Infants born at Lucile Packard Children's Hospital (LPCH) from July 25, 2013 through July 25, 2014 were offered universal newborn screening via wide-angle digital retinal photography in the Newborn Eye Screen Test (NEST) study. Maternal, obstetric, and neonatal factors were obtained by reviewing hospital records prior to discharge. The location, retinal layer, and laterality of FH were recorded by one pediatric vitreoretinal specialist. Main Outcome Measures Birth prevalence of FH. Secondary outcomes included rate of adverse events, risk factors for FH, hemorrhage characteristics and adverse events. Results The birth prevalence of FH in this study was 20.3% (41/202 infants). Ninety-five percent of FHs involved the periphery, 83% involved the macula, and 71% involved multiple layers of the retina. The fovea was involved in 15% of FH cases (birth prevalence, 3.0%). No cases of bilateral foveal hemorrhage were found. Fundus hemorrhages were more common in the left eye than the right. Fundus hemorrhages were most commonly optic nerve flame hemorrhages (48%) and white-centered retinal hemorrhages (30%). Retinal hemorrhages were found most frequently in all 4 quadrants (35%) and more often were multiple than solitary. Macular hemorrhages most often were intraretinal (40%). Among the risk factors examined in this study, vaginal delivery compared with cesarean section (odds ratio [OR], 9.34; 95% confidence interval [CI], 2.57-33.97) showed the greatest level of association with FH. Self

  16. [A temporal bone CT study of the infants with hearing loss referred from universal newborn hearing screening].

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    Tao, Zheng; Li, Yun; Hou, Zheng; Cheng, Lan

    2007-02-01

    To explore the high resolution CT image of temporal bone in infants with hearing loss, and its value in evaluating the cause of hearing loss. In 2005, 0.12 million newborns have been included in the hearing screening system in Shanghai, and 1077 infants have failed to pass the hearing screening. One hundred and eight four infants were diagnosed as congenital hearing loss from mild to profound. A temporal bone HRCT scanning was performed to these infants. Among the 184 patients with congenital hearing loss, HRCT showed that 26 cases (14.1%) were associated with external ear malformation, and 21 cases (11.4%) were associated with middle ear malformation, 31 cases (16.8%) associated with inner ear malformation. The patients with inner ear malformation included 12 cases with Mondini malformation, 1 case with common cavity malformation, 6 cases with large vestibule malformation, 5 cases with internal auditory canal abnormalities, and 10 cases with vestibule, semicircular canals abnormalities. In addition, there were 20 cases (10.8%) with fluid in middle ear. HRCT image play an important role in the differential diagnosis and treatment of infants with congenital hearing loss.

  17. Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths.

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    Abouk, Rahi; Grosse, Scott D; Ailes, Elizabeth C; Oster, Matthew E

    2017-12-05

    In 2011, critical congenital heart disease was added to the US Recommended Uniform Screening Panel for newborns, but whether state implementation of screening policies has been associated with infant death rates is unknown. To assess whether there was an association between implementation of state newborn screening policies for critical congenital heart disease and infant death rates. Observational study with group-level analyses. A difference-in-differences analysis was conducted using the National Center for Health Statistics' period linked birth/infant death data set files for 2007-2013 for 26 546 503 US births through June 30, 2013, aggregated by month and state of birth. State policies were classified as mandatory or nonmandatory (including voluntary policies and mandates that were not yet implemented). As of June 1, 2013, 8 states had implemented mandatory screening policies, 5 states had voluntary screening policies, and 9 states had adopted but not yet implemented mandates. Numbers of early infant deaths (between 24 hours and 6 months of age) coded for critical congenital heart disease or other/unspecified congenital cardiac causes for each state-month birth cohort. Between 2007 and 2013, there were 2734 deaths due to critical congenital heart disease and 3967 deaths due to other/unspecified causes. Critical congenital heart disease death rates in states with mandatory screening policies were 8.0 (95% CI, 5.4-10.6) per 100 000 births (n = 37) in 2007 and 6.4 (95% CI, 2.9-9.9) per 100 000 births (n = 13) in 2013 (for births by the end of July); for other/unspecified cardiac causes, death rates were 11.7 (95% CI, 8.6-14.8) per 100 000 births in 2007 (n = 54) and 10.3 (95% CI, 5.9-14.8) per 100 000 births (n = 21) in 2013. Early infant deaths from critical congenital heart disease through December 31, 2013, decreased by 33.4% (95% CI, 10.6%-50.3%), with an absolute decline of 3.9 (95% CI, 3.6-4.1) deaths per 100 000 births after

  18. Use of newborn screening program blood spots for exposure assessment: declining levels of perluorinated compounds in New York State infants.

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    Spliethoff, Henry M; Tao, Lin; Shaver, Shannon M; Aldous, Kenneth M; Pass, Kenneth A; Kannan, Kurunthachalam; Eadon, George A

    2008-07-15

    Temporal biomonitoring studies can assess changes in population exposures to contaminants, but collection of biological specimens with adequate representation and sufficient temporal resolution can be resource-intensive. Newborn Screening Programs (NSPs) collect blood as dried spots on filter paper from nearly all infants born in the United States (U.S.). In this study, we investigated the use of NSP blood spots for temporal biomonitoring by analyzing perfluorooctane sulfonate (PFOS), perfluorooctane sulfonamide (PFOSA), perfluorohexane sulfonate (PFHxS), perfluorooctanoic acid (PFOA), and perfluorononanoic acid (PFNA) in 110 New York State (NYS) NSP blood spot composite specimens collected between 1997 and 2007, representing a total of 2640 infants. All analytes were detected in > or =90% of the specimens. Concentrations of PFOS, PFOSA, PFHxS, and PFOA exhibited significant exponential declines after the year 2000, coinciding with the phase-out in PFOS production in the U.S. Calculated disappearance half-lives for PFOS, PFHxS, and PFOA (4.4, 8.2, and 4.1 years, respectively) were similar to biological half-lives reported for retired fluorochemical workers. Our results suggest sharp decreases in perinatal exposure of NYS infants to PFOS, PFOSA, PFHxS, and PFOA and demonstrate, for the first time, the utility of NSP blood spots for assessment of temporal trends in exposure.

  19. Air trapping on chest CT is associated with worse ventilation distribution in infants with cystic fibrosis diagnosed following newborn screening.

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    Graham L Hall

    Full Text Available BACKGROUND: In school-aged children with cystic fibrosis (CF structural lung damage assessed using chest CT is associated with abnormal ventilation distribution. The primary objective of this analysis was to determine the relationships between ventilation distribution outcomes and the presence and extent of structural damage as assessed by chest CT in infants and young children with CF. METHODS: Data of infants and young children with CF diagnosed following newborn screening consecutively reviewed between August 2005 and December 2009 were analysed. Ventilation distribution (lung clearance index and the first and second moment ratios [LCI, M(1/M(0 and M(2/M(0, respectively], chest CT and airway pathology from bronchoalveolar lavage were determined at diagnosis and then annually. The chest CT scans were evaluated for the presence or absence of bronchiectasis and air trapping. RESULTS: Matched lung function, chest CT and pathology outcomes were available in 49 infants (31 male with bronchiectasis and air trapping present in 13 (27% and 24 (49% infants, respectively. The presence of bronchiectasis or air trapping was associated with increased M(2/M(0 but not LCI or M(1/M(0. There was a weak, but statistically significant association between the extent of air trapping and all ventilation distribution outcomes. CONCLUSION: These findings suggest that in early CF lung disease there are weak associations between ventilation distribution and lung damage from chest CT. These finding are in contrast to those reported in older children. These findings suggest that assessments of LCI could not be used to replace a chest CT scan for the assessment of structural lung disease in the first two years of life. Further research in which both MBW and chest CT outcomes are obtained is required to assess the role of ventilation distribution in tracking the progression of lung damage in infants with CF.

  20. Does Breast Feeding Protect the Hypothyroid Infant Diagnosed by Newborn Screening?

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    Rovet, Joanne F.

    Because breast milk contains small quantities of thyroid hormones not found in commercial formula preparations, it was hypothesized that breast feeding may provide some protective benefit to the hypothyroid infant before medical treatment is begun. Of 108 children with congenital hypothyroidism, breast-fed children had higher thyroid hormone…

  1. Newborn Screening: MedlinePlus Health Topic

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    ... more articles Reference Desk Glossary (National Center for Biotechnology Information) Find an Expert Eunice Kennedy Shriver National ... other than English on Newborn Screening NIH MedlinePlus Magazine Hearing Loss: Screening Newborns Screening Newborns' Hearing Now ...

  2. Infant - newborn development

    Science.gov (United States)

    ... is on the changing table. Consider the following important safety tips: Be aware of poisons (household cleaners, cosmetics, ... middle of the back seat. It is very important for the driver to pay attention to driving, not playing with the infant. If you need ...

  3. Newborn Screening for Phenylketonuria

    Directory of Open Access Journals (Sweden)

    Gustavo J. C. Borrajo PhD

    2016-12-01

    Full Text Available Newborn screening (NBS for phenylketonuria in Latin America gave its first step in an organized way 3 decades ago when the first national NBS program was implemented in Cuba. From then onward, it experienced a slow but continuous growing, being currently possible to find from countries where no NBS activity is known to several countries with consolidated NBS programs. This complex scenario gave rise to a great diversity in the criteria used for sample collection, selection of analytical methods, and definition of cutoff values. Considering this context, a consensus meeting was held in order to unify such criteria, focusing the discussion in the following aspects—recommended blood specimens and sample collection time; influence of early discharge, fasting, parenteral nutrition, blood transfusions, extracorporeal life support, and antibiotics; main causes of transient hyperphenylalaninemias; required characteristics for methods used in phenylalanine measurement; and finally, criteria to define the more appropriate cutoff values.

  4. Monitoring of cerebral haemodynamics in newborn infants

    DEFF Research Database (Denmark)

    Liem, K Djien; Greisen, Gorm

    2010-01-01

    The most important cerebrovascular injuries in newborn infants, particularly in preterm infants, are cerebral haemorrhage and ischemic injury. The typical cerebral vascular anatomy and the disturbance of cerebral haemodynamics play important roles in the pathophysiology. The term 'cerebral haemod...

  5. Newborn hearing screening protocol in tuscany region.

    Science.gov (United States)

    Berrettini, Stefano; Ghirri, Paolo; Lazzerini, Francesco; Lenzi, Giovanni; Forli, Francesca

    2017-09-20

    Newborn hearing screening has to be considered the first step of a program for the identification, diagnosis, treatment and habilitation/rehabilitation of children with hearing impairment. In Tuscany Region of Italy, the universal newborn hearing screening is mandatory since november 2007. The first guidelines for the execution of the screening have been released in June 2008; then many other Italian regions partially or totally adopted these guidelines. On the basis of the experience from 2008 and according to the recent evidences in the scientific literature, a new screening protocol was released in Tuscany region. The new protocol is an evolution of the previous one. Some issues reported in the previous protocol and in the Joint Committee on Infant Hearing statement published in 2007 were revised, such as the risk factors for auditory neuropathy and for late onset, progressive or acquired hearing loss. The new updated guidelines were submitted to the Sanitary Regional Council and then they have been approved in August 2016. The updated screening protocol is mainly aimed to identify newborns with a congenital moderate-to-profound hearing loss, but it also provides indications for the audiological follow-up of children with risk's factor for progressive or late onset hearing loss; further it provides indications for the audiological surveillance of children at risk for acquired hearing impairment. Then, in the new guidelines the role of the family paediatrician in the newborn hearing screening and audiological follow-up and surveillance is underscored. Finally the new guidelines provide indications for the treatment with hearing aids and cochlear implant, in accordance with the recent Italian Health Technology Assessment (HTA) guidelines. In the paper we report the modality of execution of the universal newborn hearing screening in the Tuscany Region, according to the recently updated protocol. The main features of the protocol and the critical issues are

  6. A Targeted Approach for Congenital Cytomegalovirus Screening Within Newborn Hearing Screening.

    Science.gov (United States)

    Fowler, Karen B; McCollister, Faye P; Sabo, Diane L; Shoup, Angela G; Owen, Kris E; Woodruff, Julie L; Cox, Edith; Mohamed, Lisa S; Choo, Daniel I; Boppana, Suresh B

    2017-02-01

    Congenital cytomegalovirus (cCMV) infection remains a leading cause of childhood hearing loss. Currently universal CMV screening at birth does not exist in the United States. An alternative approach could be testing infants who do not pass their newborn hearing screening (NHS) for cCMV. This study was undertaken to evaluate whether a targeted approach will identify infants with CMV-related sensorineural hearing loss (SNHL). Infants born at 7 US medical centers received NHS and were also screened for cCMV while in the newborn nursery. Infants who tested positive for CMV received further diagnostic audiologic evaluations to identify or confirm hearing loss. Between 2007 and 2012, 99 945 newborns were screened for both hearing impairment and cCMV. Overall, 7.0% of CMV-positive infants did not pass NHS compared with 0.9% of CMV-negative infants (P CMV-infected infants who passed their NHS had SNHL confirmed by further evaluation during early infancy. NHS in this cohort identified 57% of all CMV-related SNHL that occurred in the neonatal period. A targeted CMV approach that tests newborns who fail their NHS identified the majority of infants with CMV-related SNHL at birth. However, 43% of the infants with CMV-related SNHL in the neonatal period and cCMV infants who are at risk for late onset SNHL were not identified by NHS. Copyright © 2017 by the American Academy of Pediatrics.

  7. Immobility reaction at birth in newborn infant.

    Science.gov (United States)

    Rousseau, Pierre Victor; Francotte, Jacques; Fabbricatore, Maria; Frischen, Caroline; Duchateau, Delphine; Perin, Marie; Gauthier, Jean-Marie; Lahaye, Willy

    2014-08-01

    To describe an immobility reaction (IR) that was not previously reported at or immediately after birth in human newborns. We analyzed 31 videos of normal term vaginal deliveries recorded from Time 0 of birth defined as the as the moment that lies between the birth of the thorax and the pelvis of the infant. We searched for perinatal factors associated with newborn's IR. IR at birth was observed in 8 of the 31 newborns. The main features of their behavior were immobilization, frozen face, shallow breathing and bradycardia. One of the 8 newborns had sudden collapse 2h after birth. We found significant relationships between maternal prenatal stress (PS) and IR (p=.037), and a close to significant one between infants' lividness at Time 0 and IR (p=.053). The first breath of the 31 newborns occurred before and was not associated with the first cry (psyndrome. This first report of an IR reaction at birth in human infants could open up new paths for improving early neonatal care. Further research is needed for maternal PS, stress hormones, umbilical cord blood pH measurements in IR newborns. The challenge of education and support for parents of IR newborns is outlined. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Infant and Newborn Development - Multiple Languages

    Science.gov (United States)

    ... List of All Topics All Infant and Newborn Development - Multiple Languages To use the sharing features on this page, please enable JavaScript. Arabic (العربية) Chinese, Simplified (Mandarin dialect) (简体中文) Chinese, Traditional (Cantonese dialect) ( ...

  9. Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Christensen, Mette; Olesen, Jes

    2015-01-01

    A neonate with low blood free carnitine level on newborn tandem mass spectrometry screening was evaluated for possible carnitine transporter defect (CTD). The plasma concentration of free carnitine was marginally reduced, and the concentrations of acylcarnitines (including C6, C8, and C10:1) were...

  10. Eye disorders in newborn infants (excluding retinopathy of prematurity).

    Science.gov (United States)

    Wan, Michael J; VanderVeen, Deborah K

    2015-05-01

    A screening eye examination is an essential part of the newborn assessment. The detection of many ocular disorders in newborn infants can be achieved through careful observation of the infant's visual behaviour and the use of a direct ophthalmoscope to assess the ocular structures and check the red reflex. Early diagnosis and subspecialty referral can have a critical impact on the prognosis for many ocular conditions, including potentially blinding but treatable conditions such as congenital cataracts, life-threatening malignancies such as retinoblastoma and harbingers of disease elsewhere such as sporadic aniridia and its association with the development of Wilms tumour. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  11. Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

    Science.gov (United States)

    Kwan, Antonia; Abraham, Roshini S.; Currier, Robert; Brower, Amy; Andruszewski, Karen; Abbott, Jordan K.; Baker, Mei; Ballow, Mark; Bartoshesky, Louis E.; Bonagura, Vincent R.; Bonilla, Francisco A.; Brokopp, Charles; Brooks, Edward; Caggana, Michele; Celestin, Jocelyn; Church, Joseph A.; Comeau, Anne Marie; Connelly, James A.; Cowan, Morton J.; Cunningham-Rundles, Charlotte; Dasu, Trivikram; Dave, Nina; De La Morena, Maria T.; Duffner, Ulrich; Fong, Chin-To; Forbes, Lisa; Freedenberg, Debra; Gelfand, Erwin W.; Hale, Jaime E.; Celine Hanson, I.; Hay, Beverly N.; Hu, Diana; Infante, Anthony; Johnson, Daisy; Kapoor, Neena; Kay, Denise M.; Kohn, Donald B.; Lee, Rachel; Lehman, Heather; Lin, Zhili; Lorey, Fred; Abdel-Mageed, Aly; Manning, Adrienne; McGhee, Sean; Moore, Theodore B.; Naides, Stanley J.; Notarangelo, Luigi D.; Orange, Jordan S.; Pai, Sung-Yun; Porteus, Matthew; Rodriguez, Ray; Romberg, Neil; Routes, John; Ruehle, Mary; Rubenstein, Arye; Saavedra-Matiz, Carlos A.; Scott, Ginger; Scott, Patricia M.; Secord, Elizabeth; Seroogy, Christine; Shearer, William T.; Siegel, Subhadra; Silvers, Stacy K.; Stiehm, E. Richard; Sugerman, Robert W.; Sullivan, John L.; Tanksley, Susan; Tierce, Millard L.; Verbsky, James; Vogel, Beth; Walker, Rosalyn; Walkovich, Kelly; Walter, Jolan E.; Wasserman, Richard L.; Watson, Michael S.; Weinberg, Geoffrey A.; Weiner, Leonard B.; Wood, Heather; Yates, Anne B.; Puck, Jennifer M.

    2015-01-01

    IMPORTANCE Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100 000 births. OBJECTIVES To present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments. DESIGN Epidemiological and retrospective observational study. SETTING Representatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3 030 083 newborns screened with a TREC test. MAIN OUTCOMES AND MEASURES Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked. RESULTS Screening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58 000 infants (95%CI, 1/46 000-1/80 000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87%(45/52), 92%(45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in

  12. Managing hypertension in the newborn infants

    Directory of Open Access Journals (Sweden)

    Azar Nickavar

    2014-01-01

    Full Text Available Hypertension in newborn infants, particularly those requiring intensive care, is becoming increasingly recognized, with prevalence of 0.2-3%. Recent studies have established normative tables for blood pressure (BP in both term and pre-term infants based on the gestational age, postnatal age, gender, weight and height, identifying the neonates at increased risk for early-onset cardiovascular disease. Common causes of neonatal hypertension include thromboembolic complications secondary to umbilical artery catheterization, congenital renal structural malformation, renovascular disease, aortic coarctation, as well as acute kidney injury and certain medications. A careful diagnostic evaluation should lead to identification of the underlying cause of hypertension in most infants. Treatment options should be tailored to the severity; and underlying cause of hypertension, including intravenous and/or oral therapy. This review summarizes recent work in these areas, focusing on optimal BP measurement, definition, evaluation and management of hypertension as well as advances in drug therapy of neonatal hypertension.

  13. Attitudes toward newborn screening for cytomegalovirus infection.

    Science.gov (United States)

    Din, Erica S; Brown, Cedric J; Grosse, Scott D; Wang, Chengbin; Bialek, Stephanie R; Ross, Danielle S; Cannon, Michael J

    2011-12-01

    Newborns are not routinely screened for cytomegalovirus (CMV), the leading infectious cause of developmental disability. Congenital CMV satisfies a number of criteria for inclusion in newborn screening, and screening potentially offers benefits. Screening could also introduce harms such as anxiety and unnecessary costs for the families of the substantial proportion of CMV-infected children who never develop CMV-related disabilities. Our objective was to assess attitudes toward newborn screening for CMV. We analyzed responses to 5 statements about CMV and newborn screening from 3922 participants in the 2009 HealthStyles survey, a national mail survey designed to include a group similar to the US population with respect to gender, age, race/ethnicity, income, and household size. Two-step cluster analysis was performed to identify clusters of parental attitudes. The majority of respondents strongly or somewhat agreed that they would want to have their newborn tested for CMV even if it was not performed routinely (84%), they had to pay $20 (87%), or CMV-related problems never developed (84%). Nearly half (47%) of them "would worry that the CMV test would lead to unneeded doctor visits and expenses," and 32% "think CMV problems are too rare to worry about." Three clusters of parent respondents were identified on the basis of their attitudes toward CMV screening: "strongly in favor" (31%), "moderately in favor" (49%), and "weakly opposed" (20%). Among most parents, costs, worry, and anxiety associated with newborn screening for CMV would be acceptable. Although attitudes were generally favorable, a minority of the parents were weakly opposed to newborn screening for CMV.

  14. Screening of newborns for congenital hypothyroidism. Guidance for developing programmes

    International Nuclear Information System (INIS)

    2005-12-01

    Congenital hypothyroidism is a condition that, if left untreated, can cause lifelong human suffering as a result of severe mental retardation and deficiency of growth. With the involvement of the IAEA, screening programmes to detect congenital hypothyroidism in newborn infants have been introduced successfully in a large number of countries. The cornerstone of these programmes is accurate and reliable screening methods involving isotope techniques and simple medical treatment. The suffering - and heavy social and economic burden - caused by congenital hypothyroidism prompted many countries to institute a formalized screening programme directed at newborns, just as a vaccination programme has become an integral part of child health care. In many other countries however, this type of formalized service has not yet been established. For these countries, the implementation of a neonatal screening programme will bring about a considerable improvement in child health care. It is hoped that the guidance in this publication will be especially useful to the signatories of the United Nations Convention on the Rights of the Child. Several factors that prevail in a country - the climate, political environment, economic development, level of health care and the transportation system - have an influence on the overall operational systems, design and implementation of a screening programme. As such, the design of such a programme will differ greatly from country to country. Nevertheless, neonatal screening programmes have many elements in common. This book draws on the IAEA's experience in this area over more than a decade, and on the results of a regional technical cooperation programme on neonatal screening for congenital hypothyroidism in East Asia (IAEA Project RAS6032). This publication provides guidance aimed specifically at implementing and sustaining programmes for the screening of newborn infants

  15. Intracranial hemorrhage of the mature newborn infant

    International Nuclear Information System (INIS)

    Takemine, Hisao

    1983-01-01

    Concerning four mature newborn infants with intracranial hemorrhage diagnosed by CT, the labour course, treatment, and prognoses were discussed. Of intracranial hemorrhage, 70.7% was small hemorrhage along the cerebellar tentorium and the falx cerebri, 12.2% subdural hemorrhage in the posterior cranial fossa, and 9.8% subdural hemorrhage in the fornex. Intraventricular or extradural hemorrhage was rarely found. The prognosis is determined by severeness of neurotic symptoms due to cerebral hypoxia. Subdural hemorrhage of the posterior cranial fossa resulted in cerebral palsy in one fifth of the cases, and in slight enlargement of the ventricle in three fifths. Subdural hematoma left porencephaly in one fourth of the patients, but the remaining recovered to normal. (Ueda, J.)

  16. Prevention of Vitamin K deficiency bleeding in newborn infants

    DEFF Research Database (Denmark)

    Mihatsch, W. A.; Braegger, C P; Bronsky, J

    2016-01-01

    Vitamin K deficiency bleeding (VKDB) due to physiologically low vitamin K plasma concentrations is a serious risk for newborn and young infants and can be largely prevented by adequate vitamin K supplementation. The aim of this position paper is to define the condition, describe the prevalence......, discuss current prophylaxis practices and outcomes, and to provide recommendations for the prevention of VKDB in healthy term newborns and infants. All newborn infants should receive vitamin K prophylaxis and the date, dose, and mode of administration should be documented. Parental refusal of vitamin K...... prophylaxis after adequate information is provided should be recorded especially because of the risk of late VKDB. Healthy newborn infants should either receive 1 mg of vitamin K 1 by intramuscular injection at birth; or 3×2 mg vitamin K 1 orally at birth, at 4 to 6 days and at 4 to 6 weeks; or 2 mg vitamin K...

  17. FATAL UREAPLASMAL PNEUMONIA AND SEPSIS IN A NEWBORN-INFANT

    NARCIS (Netherlands)

    BRUS, F; VANWAARDE, WM; SCHOOTS, C; OETOMO, SB

    Ureaplasma urealyticum was isolated in pure culture from blood tracheal aspirate and lung tissue in a newborn infant, who died of a severe pneumonia within 48 h after birth. The clinical course was characterized by persistent pulmonary hypertension of the newborn (PPHN). Post-mortem examination

  18. Data integration and warehousing: coordination between newborn screening and related public health programs.

    Science.gov (United States)

    Therrell, Bradford L

    2003-01-01

    At birth, patient demographic and health information begin to accumulate in varied databases. There are often multiple sources of the same or similar data. New public health programs are often created without considering data linkages. Recently, newborn hearing screening (NHS) programs and immunization programs have virtually ignored the existence of newborn dried blood spot (DBS) newborn screening databases containing similar demographic data, creating data duplication in their 'new' systems. Some progressive public health departments are developing data warehouses of basic, recurrent patient information, and linking these databases to other health program databases where programs and services can benefit from such linkages. Demographic data warehousing saves time (and money) by eliminating duplicative data entry and reducing the chances of data errors. While newborn screening data are usually the first data available, they should not be the only data source considered for early data linkage or for populating a data warehouse. Birth certificate information should also be considered along with other data sources for infants that may not have received newborn screening or who may have been born outside of the jurisdiction and not have birth certificate information locally available. This newborn screening serial number provides a convenient identification number for use in the DBS program and for linking with other systems. As a minimum, data linkages should exist between newborn dried blood spot screening, newborn hearing screening, immunizations, birth certificates and birth defect registries.

  19. PHENYLKETONURIA, DETECTION IN THE NEWBORN INFANT AS A ROUTINE HOSPITAL PROCEDURE.

    Science.gov (United States)

    GUTHRIE, ROBERT; WHITNEY, STEWART

    A FIELD TRIAL OF AN INHIBITION ASSAY METHOD FOR SCREENING FOR PHENYLKETONURIA (PKU) TESTED MORE THAN 400,000 NEWBORN INFANTS PRIOR TO DISCHARGE FROM THE HOSPTIAL. IN ALL, 39 CASES WERE FOUND, A HIGHER INCIDENCE THAN HAD PREVIOUSLY BEEN EXPECTED. THE PRACTICALITY OF THE INHIBITION ASSAY METHOD WAS ALSO DEMONSTRATED. THE REPORT DETAILS THE TRIAL'S…

  20. Weaning newborn infants from mechanical ventilation

    Directory of Open Access Journals (Sweden)

    Paolo Biban

    2013-06-01

    Full Text Available Invasive mechanical ventilation is a life-saving procedure which is largely used in neonatal intensive care units, particularly in very premature newborn infants. However, this essential treatment may increase mortality and cause substantial morbidity, including lung or airway injuries, unplanned extubations, adverse hemodynamic effects, analgosedative dependency and severe infectious complications, such as ventilator-associated pneumonia. Therefore, limiting the duration of airway intubation and mechanical ventilator support is crucial for the neonatologist, who should aim to a shorter process of discontinuing mechanical ventilation as well as an earlier appreciation of readiness for spontaneous breathing trials. Unfortunately, there is scarce information about the best ways to perform an effective weaning process in infants undergoing mechanical ventilation, thus in most cases the weaning course is still based upon the individual judgment of the attending clinician. Nonetheless, some evidence indicate that volume targeted ventilation modes are more effective in reducing the duration of mechanical ventilation than traditional pressure limited ventilation modes, particularly in very preterm babies. Weaning and extubation directly from high frequency ventilation could be another option, even though its effectiveness, when compared to switching and subsequent weaning and extubating from conventional ventilation, is yet to be adequately investigated. Some data suggest the use of weaning protocols could reduce the weaning time and duration of mechanical ventilation, but better designed prospective studies are still needed to confirm these preliminary observations. Finally, the implementation of short spontaneous breathing tests in preterm infants has been shown to be beneficial in some centres, favoring an earlier extubation at higher ventilatory settings compared with historical controls, without worsening the extubation failure rate. Further

  1. Newborn screening for MCAD deficiency

    DEFF Research Database (Denmark)

    Horvath, Gabriella A; Davidson, A G F; Stockler-Ipsiroglu, Sylvia G

    2008-01-01

    . Both C8 and C8/C10 ratios remained abnormal in all confirmed MCAD cases. Positive predictive value of screening was 58% with no false negative results. Seven patients were homozygous for the common c.985A > G MCAD mutation and three others were compound heterozygous for the c.985A > G and a second...

  2. Public health and laboratory considerations regarding newborn screening for congenital cytomegalovirus.

    Science.gov (United States)

    Dollard, Sheila C; Schleiss, Mark R; Grosse, Scott D

    2010-10-01

    Congenital cytomegalovirus (CMV) infection is the most common infection in newborns worldwide and causes hearing loss and other neurological disability in 15-20% of infected infants. Only about half of the hearing loss resulting from congenital CMV infection is currently detected by universal newborn hearing screening because of late-onset hearing loss. Thus, much of the hearing loss and the majority of other CMV-associated disabilities remain undetected for years after birth and are never connected to CMV infection. Congenital CMV may be appropriate to include in national newborn screening (NBS) programs because it is more common than other disorders tested for by NBS programs and is a major cause of disability. Significant obstacles to the implementation of screening for congenital CMV include the lack of a standardized, high-throughput screening test and a protocol for follow-up of CMV-infected children. Nonetheless, screening newborns for congenital CMV infection merits further consideration.

  3. Efficacy of screening immune system function in at-risk newborns

    OpenAIRE

    Pavlovski, Christopher J

    2014-01-01

    This paper explores the introduction of a screening test to highlight impaired immune system status for newborn infants and its efficacy as a preventative clinical measure. Moreover, it is suggested that screening of the infantile immune system has the potential to highlight susceptibility to a range of infant and childhood diseases, bestowing an opportunity to introduce early intervention to reduce the incidence of these diseases. Development of the neonatal immune system is an important hea...

  4. Health Literacy Among Parents of Newborn Infants

    Science.gov (United States)

    Mackley, Amy; Winter, Michael; Guillen, Ursula; Paul, David A.; Locke, Robert

    2016-01-01

    BACKGROUND Health Literacy is the ability to obtain, process, and understand health information to make knowledgeable health decisions. PURPOSE To determine baseline health literacy of NICU parents at a tertiary care hospital during periods of crucial information exchange. METHODS Health Literacy of English speaking NICU parents was assessed using the Newest vital Sign (NVS) on admission (n=121) and discharge (n=59). A quasi-control group of well newborn (WBN) parents (n=24) and prenatal obstetric clinic (PRE) parents (n=18) were included. A single, Likert-style question measured nurse’s assessment of parental comprehension with discharge teaching. Suspected limited health literacy (SLHL) was defined as NVS score of ≤3. FINDINGS / RESULTS Forty-three percent of parents on NICU admission and 32% at NICU discharge had SLHL (pNICU parents and 25% of WBN parents with SLHL at time of admission/infant birth had a college education. Nurse subjective measurement of parental comprehension of discharge instructions was not correlated to the objective measurement of health literacy (p=0.26). IMPLICATIONS FOR PRACTICE SLHL is common during peak time periods of complex health discussion in the NICU, WBN, and PRE settings. NICU providers may not accurately gauge parent’s literacy status. IMPLICATIONS FOR RESEARCH Methods for improving health communication are needed. Studies should evaluate SLHL in a larger NICU population and across different languages and cultures. PMID:27391562

  5. No more tears? Maternal involvement during the newborn screening examination.

    LENUS (Irish Health Repository)

    Ganda, Augustine Josie

    2012-01-31

    BACKGROUND: Babies often show signs of discomfort and distress by crying during the neonatal screening examination (NSE). The authors hypothesized that supporting the baby with maternal participation may reduce infant crying during NSE. The objective of this study was to document incidental infant crying during NSE, before and after training residents, on maternal involvement and infant comfort techniques to help. METHODS: A total of 20 NSEs of normal newborn babies by pediatric residents were observed (video-recorded) following informed consent of the doctor and the baby\\'s mother. The examining doctors were then taught how to use maternal participation and developmental care (MPDC) comfort techniques to support the baby during NSE. Mothers were shown how to focus on their baby\\'s needs by supporting the baby\\'s head (preventing atonic neck reflexes) and, if necessary, providing nonnutritive sucking to the baby and an encouraging, repetitive low-tone voices to sooth the baby. A further 14 NSEs on different babies were video-recorded using these techniques. The video recordings were analyzed by independent observers for total length of crying and duration of crying during specific components of the NSE. Mothers in both groups were given a questionnaire to assess their opinions of the NSE. RESULTS: The median length of crying was significantly longer in the pre-MPDC group (93.5 seconds; range 0-198 seconds) compared with the post-MPDC infants (0 seconds; range 0-123 seconds; P = .001). Only 1 of 20 infants in the pre-MPDC did not cry during NSE compared with 8 of 14 babies in the post-MPDC group. CONCLUSION: Newborn infants cry less and mothers were more satisfied with NSEs when shown simple support and comfort techniques for their babies.

  6. Vertically transmitted cytomegalovirus infection in newborn preterm infants.

    Science.gov (United States)

    Balcells, Carla; Botet, Francesc; Gayete, Sònia; Marcos, M Ángeles; Dorronsoro, Izaskun; de Alba, Concepción; Figueras-Aloy, Josep

    2016-07-01

    To determine the epidemiology of congenital and acquired cytomegalovirus (CMV) infections in preterm infants and to analyze the efficacy of breast milk freezing in decreasing the vertical transmission rate of CMV. During 2013 and 2014, preterm newborns who weighed ≤1500 g and were admitted to 22 Spanish neonatal units were included and screened for CMV infection according to the Spanish Neonatology Society recommendations. Each hospital treated the breast milk according to its own protocols. Among the 1236 preterm neonates included, 10 had a congenital infection (0.8%) and 49 had an acquired infection (4.0%) (82% demonstrated positive PCR-CMV in breast milk). The neonates who received only frozen milk presented less frequently with acquired infection (1.2%) than those fed fresh milk (5.5%) (RR=0.22; 95% CI 0.05-0.90; P=0.017). The newborns who received bank milk followed by frozen or fresh breast milk more frequently had an acquired infection (2.1% or 2.2%, respectively) than those fed only frozen breast milk. The incidence of congenital CMV infection in our sample is low, as described in the literature. To reduce acquired CMV infection, freezing breast milk might be an advisable procedure for preterm neonates born from seropositive mothers, either from the beginning of lactation or after a period of bank milk administration.

  7. Continuous Glucose Monitoring in Newborn Infants

    Science.gov (United States)

    Thomas, Felicity; Signal, Mathew; Harris, Deborah L.; Weston, Philip J.; Harding, Jane E.; Shaw, Geoffrey M.

    2014-01-01

    Neonatal hypoglycemia is common and can cause serious brain injury. Continuous glucose monitoring (CGM) could improve hypoglycemia detection, while reducing blood glucose (BG) measurements. Calibration algorithms use BG measurements to convert sensor signals into CGM data. Thus, inaccuracies in calibration BG measurements directly affect CGM values and any metrics calculated from them. The aim was to quantify the effect of timing delays and calibration BG measurement errors on hypoglycemia metrics in newborn infants. Data from 155 babies were used. Two timing and 3 BG meter error models (Abbott Optium Xceed, Roche Accu-Chek Inform II, Nova Statstrip) were created using empirical data. Monte-Carlo methods were employed, and each simulation was run 1000 times. Each set of patient data in each simulation had randomly selected timing and/or measurement error added to BG measurements before CGM data were calibrated. The number of hypoglycemic events, duration of hypoglycemia, and hypoglycemic index were then calculated using the CGM data and compared to baseline values. Timing error alone had little effect on hypoglycemia metrics, but measurement error caused substantial variation. Abbott results underreported the number of hypoglycemic events by up to 8 and Roche overreported by up to 4 where the original number reported was 2. Nova results were closest to baseline. Similar trends were observed in the other hypoglycemia metrics. Errors in blood glucose concentration measurements used for calibration of CGM devices can have a clinically important impact on detection of hypoglycemia. If CGM devices are going to be used for assessing hypoglycemia it is important to understand of the impact of these errors on CGM data. PMID:24876618

  8. Screening of the hearing of newborns - Update

    Directory of Open Access Journals (Sweden)

    von Voß, Hubertus

    2006-11-01

    Full Text Available Introduction: Permanent congenital bilateral hearing loss (CHL of moderate or greater degree (≥40 dB HL is a rare disease, with a prevalence of about 1 to 3 per 1000 births. However, it is one of the most frequent congenital diseases. Reliance on physician observation and parental recognition has not been successful in the past in detecting significant hearing loss in the first year of life. With this strategy significant hearing losses have been detected in the second year of life. With two objective technologies based on physiologic response to sound, otoacoustic emissions (OAE and auditory brainstem response (ABR hearing screening in the first days of life is made possible. Objectives: The objective of this health technology assessment report is to update the evaluation on clinical effectiveness and cost-effectiveness of newborn hearing screening programs. Universal newborn hearing screening (UHNS (i, selective screening of high risk newborns (ii, and the absence of a systematic screening program are compared for age at identification and age at hearing aid fitting of children with hearing loss. Secondly the potential benefits of early intervention are analysed. Costs and cost-effectiveness of newborn hearing screening programs are determined. This report is intended to make a contribution to the decision making whether and under which conditions a newborn hearing screening program should be reimbursed by the statutory sickness funds in Germany. Methods: This health technology assessment report updates a former health technology assessment (Kunze et al. 2004 [1]. A systematic review of the literature was conducted, based on a documented search and selection of the literature using predefined inclusion and exclusion criteria and a documented extraction and appraisal of the included studies. To assess the cost-effectiveness of the different screening strategies in Germany the decision analytic Markov state model which had been developed in

  9. Expanded newborn screening: social and ethical issues.

    Science.gov (United States)

    Dhondt, Jean-Louis

    2010-10-01

    Newborn screening and genetic testing have expanded rapidly in the last decade with the advent of multiplex (e.g., tandem mass spectrometry) and/or DNA technologies. However, screening panels include a large number of disorders, which may not meet all of the traditional screening criteria, established in late 1960s, and used for years to justify screening programs. After a period of expansion driven by technological advances, many reports have reconsidered the justification of expanded programs. Many factors have contributed to test-panel discrepancies between countries. The test-panel review methodology, the way health benefits are weighed against harms, and the socioeconomic-political environment all play a role. Expansion of screening also requires reconsideration of the infrastructure (ideally, in the context of national plans for rare diseases) to support testing, counselling, education, treatment, and follow-up. Consequently, economic aspects cannot be ignored and can be a limitation for expansion. New ethical questions have emerged: risks of discrimination or stigmatization, respect of the autonomy of persons to make decisions, parental anxiety resulting from a false positive test (especially when reporting to parents screening results for untreatable conditions identified as by-products of screening), etc. For disorders where there is not yet confirmation of benefit, it may be prudent to recommend pilot screening and to have a mechanism that can be used to adapt or even to stop a program.

  10. Detecting congenital hypothyroidism with newborn screening: the relevance of thyroid-stimulating hormone cutoff values.

    Science.gov (United States)

    Silvestrin, Stela Maris; Leone, Claudio; Leone, Cléa Rodrigues

    To assess the prevalence of congenital hypothyroidism and the ability of various neonatal thyroid-stimulating hormone (TSHneo) cutoff values to detect this disease. This cohort study was based on the retrospective collection of information available from the Reference Service for Newborn Screening database for all live births from January 1, 2010, to December 31, 2012, assessed using the Newborn Screening Program of a Brazilian state, Brazil. The infants were divided into two groups: I - Control: infants with normal newborn screening tests and II - Study: infants with congenital hypothyroidism. Analysis included comparing the TSHneo levels from both groups. A receiver operating characteristic (ROC) curve was constructed to assess the TSHneo cutoff values. Using a TSHneo cutoff value of 5.0μIU/mL, 50 out of 111,705 screened infants had diagnosis of congenital hypothyroidism (prevalence 1:2234 live births). The ROC curve showed that TSHneo value of 5.03μIU/mL had 100% sensitivity and the greatest associated specificity (93.7%). The area under the curve was 0.9898 (pvalue of 5.0μIU/mL adopted by the Newborn Screening Program of a Brazilian state was the most appropriate for detecting congenital hypothyroidism and most likely explains the high prevalence that was found. Copyright © 2017 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  11. Neutropenia in infants with hemolytic disease of the newborn.

    Science.gov (United States)

    Blanco, Esther; Johnston, Donna L

    2012-06-01

    This study examined the incidence, outcome and risk factors of neutropenia in infants with hemolytic disease of the newborn (HDN). A retrospective chart review was performed on infants with HDN. Of 69 evaluable infants, 45% developed neutropenia. Only one infectious complication was recorded. In most instances the neutropenia resolved spontaneously, but in seven infants it persisted for a median of 397 days. Males were at higher risk for developing neutropenia, but severity of HDN, antibody specificity, or therapy were not significant risk factors. Neutropenia is a common feature of HDN, regardless of severity of disease, treatment received, or antibody specificity. Copyright © 2011 Wiley Periodicals, Inc.

  12. The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD by newborn screening ontario

    Directory of Open Access Journals (Sweden)

    Fisher Lawrence

    2010-11-01

    Full Text Available Abstract Background Medium chain acyl-CoA dehydrogenase deficiency (MCADD is a disorder of mitochondrial fatty acid oxidation and is one of the most common inborn errors of metabolism. Identification of MCADD via newborn screening permits the introduction of interventions that can significantly reduce associated morbidity and mortality. This study reports on the first three years of newborn screening for MCADD in Ontario, Canada. Methods Newborn Screening Ontario began screening for MCADD in April 2006, by quantification of acylcarnitines (primarily octanoylcarnitine, C8 in dried blood spots using tandem mass spectrometry. Babies with positive screening results were referred to physicians at one of five regional Newborn Screening Treatment Centres, who were responsible for diagnostic evaluation and follow-up care. Results From April 2006 through March 2009, approximately 439 000 infants were screened for MCADD in Ontario. Seventy-four infants screened positive, with a median C8 level of 0.68 uM (range 0.33-30.41 uM. Thirty-one of the screen positive infants have been confirmed to have MCADD, while 36 have been confirmed to be unaffected. Screening C8 levels were higher among infants with MCADD (median 8.93 uM compared to those with false positive results (median 0.47 uM. Molecular testing was available for 29 confirmed cases of MCADD, 15 of whom were homozygous for the common c.985A > G mutation. Infants homozygous for the common mutation tended to have higher C8 levels (median 12.13 uM relative to compound heterozygotes for c.985A > G and a second detectable mutation (median 2.01 uM. Eight confirmed mutation carriers were identified among infants in the false positive group. The positive predictive value of a screen positive for MCADD was 46%. The estimated birth prevalence of MCADD in Ontario is approximately 1 in 14 000. Conclusions The birth prevalence of MCADD and positive predictive value of the screening test were similar to those

  13. The Milan Project: a newborn hearing screening programme.

    Science.gov (United States)

    Pastorino, Giancarlo; Sergi, Paola; Mastrangelo, Massimo; Ravazzani, Paolo; Tognola, Gabriella; Parazzini, Marta; Mosca, Fabio; Pugni, Lorenza; Grandori, Ferdinando

    2005-04-01

    Since 1997 a newborn hearing screening programme has been implemented by the U.O. Neurologia-Neurofisiopatologia and Dipartimento di Neonatologia of the Istituti Clinici di Perfezionamento ICP in Milan for both babies with no risk and those at risk of hearing impairment. This programme was named the Milan Project. The protocol for no-risk babies consisted of three stages: in the first two stages, newborns were tested with transient click-evoked otoacoustic emissions (TEOAE), in the third one with conventional auditory brainstem responses (ABR). The first TEOAE test was performed by 36 h of age, before discharge, the second one after 15-30 d in case of referral, and the third one, by ABR, for those babies who failed the second TEOAE stage. Newborns at audiological risk were submitted to conventional ABR before the third month of corrected age. Some of this latter population was also submitted to the TEOAE test. The entire tested population (no-risk babies and newborns at audiological risk) consisted of 19 777 babies: 19 290 without risk ("no risk") and 487 at risk ("at risk"). During the course of the Milan Project, hearing impairment (ABR threshold equal to or greater than 40 dB nHL) was identified in 63 newborns (19 from the no-risk and 44 from the at-risk population), with a prevalence of 0.32%. Bilateral hearing impairment (BHI) was found in 33 newborns (10 from the no-risk and 23 from the at-risk population), corresponding to 0.17%. Among infants with bilateral hearing impairment, 30.3% had no risk factors. The prevalence of hearing impairment was determined on days 15-30 after birth. The results show that the implementation of a hospital-based, universal neonatal hearing screening programme for babies with and without audiological risk is feasible and effective. The effectiveness of the programme has increased as a function of the years since its inception, with a strong decrease in the referral rate. Further improvement is obtained if the TEOAE measurements

  14. Mitochondrial mutation m.1555A>G as a risk factor for failed newborn hearing screening in a large cohort of preterm infants

    OpenAIRE

    Göpel, Wolfgang; Berkowski, Sandra; Preuss, Michael; Ziegler, Andreas; Küster, Helmut; Felderhoff-Müser, Ursula; Gortner, Ludwig; Mögel, Michael; Härtel, Christoph; Herting, Egbert

    2014-01-01

    Background The mitochondrial m.1555A>G mutation is associated with a high rate of permanent hearing loss, if aminoglycosides are given. Preterm infants have an increased risk of permanent hearing loss and are frequently treated with aminoglycoside antibiotics. Methods We genotyped preterm infants with a birth weight below 1500 grams who were prospectively enrolled in a large cohort study for the m.1555A>G mutation. Treatment with aminoglycoside antibiotics in combination with mitochondrial m....

  15. Xe enhanced CT in the human newborn infant

    International Nuclear Information System (INIS)

    Fuse, Yozen; Nemoto, Yuko; Shimizu, Mitsumasa; Uga, Naoki; Tada, Hiroshi; Fujii, Toshi; Machida, Keiichi; Kikuchi, Hideo; Izumi, Shigemitsu.

    1990-01-01

    With a cranial computed tomography (CT) using stable xenon gas as a diffusible tracer, we measured regional cerebral blood flow (rCBF) in 6 newborn infants with a variety of neurological abnormalities. Gestational ages and birthweights were 35 to 43 weeks and 2436 to 3540 g, respectively. Four infants exhibited hypoxic-ischemic encephalopathy (HIE), one infant had subdural hemorrhage and the other one was the infant with hyponatremia. A baseline CT was done during denitrogenation by 100% oxygen breathing and then a mixture of 35% xenon and 65% oxygen was breathed for 6 minutes. Six scans were obtained during the inhalation period then the infant was returned to breathing 100% oxygen and additional 7 scans were taken. Four samples of arterial blood were collected every 2 minutes before and during inhalation of the xenon gas. A rCBF was calculated with the changes of Hounsfield units in brain tissue and arterial blood. Relatively high blood flows in the region of the basal nuclei as well as decreased flows in the occipital white matter were observed in the infants with HIE. In an infant with subdural hemorrhage, the blood flows were markedly reduced in the areas adjacent to the lesion, including the basal nuclei, and frontal white matter in the opposite hemisphere. Xenon-enhanced CT by inhaling low concentration of the xenon gas enables to measure rCBF in the human newborn infants without no obvious side effect. (author)

  16. Evaluation by computed tomography in premature and newborn infants

    International Nuclear Information System (INIS)

    Kuckein, D.

    1981-01-01

    By means of cranio-cerebral computed tomography hypoxic brain damage of varying degrees and different types may be demonstrated in premature infants and high-risk newborns. Paraventricular leucomalacia of varying extent up to porencephalic defects are found, as well as cortical infarctions, hemorrhage into brain tissue or ventricles, cerebral atrophy, developing hydrocephalus and congenital anomalies. (orig.) [de

  17. The Profile Of Congenital Malformation Among Newborn Infants In ...

    African Journals Online (AJOL)

    Objective: The study pattern of congenital malformations (CM) among newborn infants in Calabar, South-south Nigeria. Patients and Methods: Medical records of all inborn and out-born neonates who were admitted and treated for CM in University of Calabar teaching Hospital (UCTH) from 1997 to 2006 (10 years) were ...

  18. What Disorders Are Newborns Screened for in the United States?

    Science.gov (United States)

    ... core conditions and 26 secondary conditions. The committee’s recommendations are based on the Newborn Screening: Towards a Uniform Screening Panel and System (PDF - 975 KB) and on current research evidence, ...

  19. Automated respiratory support in newborn infants.

    Science.gov (United States)

    Claure, Nelson; Bancalari, Eduardo

    2009-02-01

    A considerable proportion of premature infants requires mechanical ventilatory support and supplemental oxygen. Due to their immaturity, exposure to these forms of respiratory support contributes to the development of lung injury, oxidative stress and abnormal retinal development. These conditions are associated with poor long-term respiratory and neurological outcome. Mechanically ventilated preterm infants present with frequent fluctuations in ventilation and gas exchange. Currently available ventilatory modes and manual adjustment to the ventilator or supplemental oxygen cannot effectively adapt to these recurrent fluctuations. Moreover, the respiratory support often exceeds the infant's real needs. Techniques that adapt the mechanical ventilatory support and supplemental oxygen to the changing needs of preterm infants are being developed in order to improve stability of gas exchange, to minimise respiratory support and to reduce personnel workload. This article describes the preliminary evidence on the application of these new techniques in preterm infants and animal models.

  20. Management of Newborn Infants with Phenylketonuria.

    Science.gov (United States)

    Health Services Administration (DHEW/PHS), Rockville, MD. Bureau of Community Health Services.

    The booklet covers the identification, diagnosis, and clinical treatment of newborns with Phenylketonuria (PKU), an inborn error of metabolism, which, if untreated, can lead to mental retardation. An initial section considers biochemical and genetic factors of PKU including a diagram of aromatic amino acid hydroxylation systems. Screening…

  1. Newborn screening: need of the hour in India.

    Science.gov (United States)

    Verma, Ishwar C; Bijarnia-Mahay, Sunita; Jhingan, Geetu; Verma, Jyotsna

    2015-01-01

    After a review of the current health scene in India, the authors suggest that the Government of India should consider seriously, the introduction of new born screening. As a first step, a central advisory committee should be constituted to recommend what is required to be done to strengthen the infrastructure and the manpower to carry out new born screening, and the disorders to be screened. In the urban hospitals newborn screening (NBS) for three disorders can be easily introduced (congenital hypothyroidism, congenital adrenal hyperplasia and G-6-PD deficiency), while in the rural areas this should begin with congenital hypothyroidism, especially in the sub Himalayan areas. Concurrently, logistic issues regarding diets and special therapies for inborn errors of metabolism should be sorted out, laboratories to confirm the diagnosis should be set up, and a cadre of metabolic physicians should be build up to treat those identified to have inborn errors of metabolism. Once these are established on a firm footing, tandem mass spectrometry should be introduced as it allows the identification of a number of disorders in an affordable manner. The recent improvements and current trends in health care in India have created the necessary infrastructure for adopting NBS for the benefit of infants in India.

  2. Uvula Abscess in a Newborn Infant.

    Science.gov (United States)

    Tuncer, Erkun; Ors, Rahmi

    2018-05-01

    Abscesses can be found in several places in the oral cavity, most commonly occurring in peritonsillar and periodontal regions. In this report, the authors described a uvula abscess in a 1-month-old term newborn who was brought to the pediatric outpatient clinic with the complaints of difficulty in sucking-swallowing and refusal to suck at the breast. To the best of the authors' knowledge this is the first report of a uvula abscess in the literature.

  3. Diabetes mellitus in newborns and infants.

    Science.gov (United States)

    Menon, P S; Khatwa, U A

    2000-06-01

    Diabetes mellitus is uncommon in infancy and newborn period. The two common forms seen are the transient and permanent forms of diabetes mellitus of the newborn. They have to be differentiated from the transient hyperglycemic states (Blood sugar > 125 mg/dl) seen in newborns who receive parenteral glucose infusions and in those with septicemia and CNS disorders. Transient diabetes mellitus of the newborn (TDNB) is defined as hyperglycemia occurring within the first month of life lasting at least 2 weeks and requiring insulin therapy. Most of these cases resolve spontaneously by 4 months. It has a reported incidence of 1 in 45,000 to 60,000 live births. The most likely etiology is a maturational delay of cAMP mediated insulin release. The clinical features include small for datedness, proneness for birth asphyxia, open-eye alert facies, dehydration, emaciation, polyuria and poydipsia. These children are prone to septicemia and urinary tract infections. They have hyperglycemia, glucosuria, absent or mild ketonuria, low basal insulin, C-peptide and IGF-1 levels. Treatment consists of hydration and judicious administration of insulin with close monitoring. Thirty percent of these children are likely to develop permanent neonatal diabetes. Compared to transient form, permanent diabetes mellitus is uncommon. It is usually due to pancreatic dysgenesis often associated with other malformations and rarely due to type 1 diabetes mellitus. The diagnosis is based on the demonstration of both exocrine and endocrine pancreatic dysfunction. These children are managed as type 1 diabetes mellitus. They are prone to develop the vascular complications of diabetes at an earlier date.

  4. Diagnostic Criteria for Transient Myocardial Ischemia in Newborn Infants with Intrauterine Growth Retardation

    Directory of Open Access Journals (Sweden)

    Umida F. Nasirova, PhD

    2012-06-01

    Full Text Available Metabolic and hemodynamic disturbances in newborns with intrauterine growth retardation resulting from the transferred intrauterine hypoxia, lead to the development of transient myocardial ischemia. Study included 158 newborn infants with intrauterine growth retardation, 83% of which have the asymmetric and 17% - the symmetric form of IUGR, revealed differences in heart rate due to higher dispersion parameters of cardiac rhythm. It was determined that in infants with intrauterine growth retardation heart rate, respiratory rate accelerated and blood pressure increased in compare with the newborns in the control group. According to the ECG examination results, were revealed the signs of focal changes of ST-T, accompanied by inversion of the ST-T segment below the isoline, which accompanied with the positive and peaked T waves, considered as myocardial ischemia. In infants with intrauterine growth retardation, survived after perinatal damage of the central nervous system, the prolongation of the QRST interval was noted in compare with the control group newborns, which could be an indicator of conjunction of hypoxic and ischemic changes in the myocardium. Clinical manifestations of transient myocardial ischemia followed by pale skin, acrocyanosis, and perioral cyanosis against dullness of heart sounds. Obtained results deepened an understanding of posthypoxic myocardial dysfunction, which is characterized by cardiac rhythm and conductivity disturbances, as well as changes in ventricular complex, and causing the need for electrocardiographic screening in the neonatal period

  5. Sedatives for opiate withdrawal in newborn infants.

    Science.gov (United States)

    Osborn, David A; Jeffery, Heather E; Cole, Michael J

    2010-10-06

    Neonatal abstinence syndrome (NAS) due to opiate withdrawal may result in disruption of the mother-infant relationship, sleep-wake abnormalities, feeding difficulties, weight loss and seizures. Treatments used to ameliorate symptoms and reduce morbidity include opiates, sedatives and non-pharmacological treatments. To assess the effectiveness and safety of using a sedative compared to a non-opiate control for NAS due to withdrawal from opiates, and to determine which type of sedative is most effective and safe. This update included searches of the Cochrane Central Register of Controlled Trials (Issue 1, 2010), MEDLINE 1966 to April 2010 and abstracts of conference proceedings. Trials enrolling infants with NAS born to mothers with an opiate dependence with > 80% follow-up and using random or quasi-random allocation to sedative or control. Control could include another sedative or non-pharmacological treatment. Each author assessed study quality and extracted data independently. Seven studies enrolling 385 patients were included. There were substantial methodological concerns for most studies including the use of quasi-random allocation methods and sizeable, largely unexplained differences in reported numbers allocated to each group.One study reported phenobarbitone compared to supportive care alone did not reduce treatment failure or time to regain birthweight, but resulted in a significant reduction in duration of supportive care (MD -162.1 min/day, 95% CI -249.2, -75.1). Comparing phenobarbitone to diazepam, meta-analysis of two studies found phenobarbitone resulted in a significant reduction in treatment failure (typical RR 0.39, 95% CI 0.24, 0.62). Comparing phenobarbitone with chlorpromazine, one study reported no significant difference in treatment failure.In infants treated with an opiate, one study reported addition of clonidine resulted in no significant difference in treatment failure, seizures or mortality. In infants treated with an opiate, one study

  6. Evaluation of TSH Levels in the Program of Congenital Hypothyroidism Newborn Screening in a Pilot Study of Preterm Newborns in Bogotá, Colombia

    Directory of Open Access Journals (Sweden)

    Gustavo Adolfo Giraldo

    2015-07-01

    Full Text Available Introduction: Preterm infants (<37 weeks of gestation have low levels of thyroid hormones due to multiple factors. Objective: To evaluate levels of thyroid-stimulation hormone (TSH in the program congenital hypothyroidism (CH newborn screening in a sample of preterm infants in the city of Bogotá, Colombia. Methods: The Secretaría de Salud Distrital screening protocol for CH (blood sample is collected from the umbilical cord in all the newborns remeasured the serum TSH and heel TSH when preterm infants completed 37 weeks of gestation. Results: A total of 59 preterm neonates were rescreened, of which 2 neonates had elevated levels of TSH and 1 neonate had transient hypothyroxinemia. The Kolmogorov-Smirnov 2-sample/bilateral statistical test was used to compare the neonatal TSH levels of preterm and full-term newborns, which do not follow the same distribution. Conclusion: In our pilot study, 2 of the rescreened infants presented high levels of TSH and 1 had transient hyperthyrotropinemia, suggesting the need for rescreening of preterm infants. Additionally, a larger study should be performed to determine the screening cutoff values for preterm newborns.

  7. Estimation of gluconeogenesis in newborn infants

    NARCIS (Netherlands)

    Kalhan, SC; Parimi, P; Van Beek, R; Gilfillan, C; Saker, F; Gruca, L; Sauer, P.J.J.

    2001-01-01

    The rate of glucose turnover (R-a) and gluconeogenesis (GNG) via pyruvate were quantified in seven full-term healthy babies between 24 and 48 h after birth and in twelve low-birth-weight infants on days 3 and 4 by use of [C-13(6)]glucose and (H2O)-H-2. The preterm babies were receiving parenteral

  8. The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

    NARCIS (Netherlands)

    Diekman, Eugene; de Sain-van der Velden, Monique; Waterham, Hans; Kluijtmans, Leo; Schielen, Peter; van Veen, Evert Ben; Ferdinandusse, Sacha; Wijburg, Frits; Visser, Gepke

    2016-01-01

    To improve the efficacy of newborn screening (NBS) for very long chain acyl-CoA dehydrogenase deficiency (VLCADD). Data on all dried blood spots collected by the Dutch NBS from October 2007 to 2010 (742.728) were included. Based solely on the C14:1 levels (cutoff ≥0.8 μmol/L), six newborns with

  9. Conference on Newborn Hearing Screening; Proceedings Summary and Recommendations.

    Science.gov (United States)

    Alexander Graham Bell Association for the Deaf, Inc., Washington, DC.

    Presented in the conference proceedings are schedule and list of participants, seven major papers, and the newborn hearing screening recommendations of the interdisciplinary conference on newborn hearing and early identification of hearing impairment. Neonatal auditory testing is reviewed by Sanford E. Gerber, and Sheldon B. Korones gives a…

  10. Baby-Friendly Practices Minimize Newborn Infants Weight Loss.

    Science.gov (United States)

    Procaccini, Diane; Curley, Ann L Cupp; Goldman, Martha

    2018-04-01

    It is accepted that newborns lose weight in the first few days of life. Baby-Friendly practices that support breastfeeding may affect newborn weight loss. The objective of this study were: 1) To determine whether Baby-Friendly practices are associated with term newborn weight loss day 0-2 in three feeding categories (exclusively breastfed, mixed formula fed and breastfed, and formula fed). 2) To determine whether Baby-Friendly practices increase exclusive breast feeding rates in different ethnic populations. This was a retrospective case-control study. Term newborn birth weight, neonatal weights days 0-2, feeding type, type of birth, and demographic information were collected for 1,000 births for the year before Baby-Friendly designation (2010) and 1,000 in 2013 (after designation). Ultimately 683 in the first group and 518 in the second met the inclusion criteria. Mean weight loss decreased day 0-2 for infants in all feeding types after the initiation of Baby-Friendly practices. There was a statistically significant effect of Baby-Friendly designation on weight loss for day 0-2 in exclusively breastfed infants (p Baby-Friendly practices were put in place. There was a decrease in mean weight loss day 0-2 regardless of feeding type after Baby-Friendly designation. Exclusive breast feeding increased in the presence of Baby-Friendly practices.

  11. Aortic mass in a newborn infant with respiratory distress

    Directory of Open Access Journals (Sweden)

    Michelle J. Vaz

    2017-10-01

    Full Text Available Thrombotic disease is rare in neonates. Many of the cases reported in literature are attributed to the placement of central catheters. We report on a case of aortic thrombosis in a newborn infant with significant respiratory distress due to meconium aspiration, necessitating intubation and placement of central catheters. Due to the location and size of the thrombus in our case, various subspecialties were involved, which ultimately guided therapy to anti-coagulate the patient.

  12. Positive pressure ventilation and cranial volume in newborn infants.

    OpenAIRE

    Milligan, D W

    1981-01-01

    The relationship between changes in airways pressure, pleural pressure, and cranial volume was studied in a group of sick newborn infants requiring ventilatory assistance. Cranial volume increased appreciably only when lung compliance was such that more than 20% of the applied airways pressure was transmitted to the pleural space, or if the absolute pleural pressure was greater than 4 cmH2O above atmospheric pressure. The findings stress the need for more-critical monitoring during periods of...

  13. [Aftercare of newborn infants in a patient hotel].

    Science.gov (United States)

    Lindgren, C

    2000-05-10

    Postnatal care of the healthy term newborn and the mother has, in modern times, taken place in the hospital setting. As a result of tightened hospital budgets as well as maternal preferences the duration of hospital stay has successively been shortened. Most women in Scandinavia today leave the hospital within four days after delivery. Postnatal care in a hotel like setting has emerged as an alternative to the well-baby nursery unless medical conditions makes this option inappropriate. To evaluate the safety of postnatal care a study was undertaken to investigate whether correct criteria were being used for referral of the newborn to the hotel. We also wanted to document the duration of stay, unexpected medical complications, and weight development of the infants. Data from 865 infants were used for analysis. Ten (1.1%) newborns had to be readmitted to the hospital due to medical complications. 488 (56%) of the mothers went home within 96 hours, and only 23 (2.6%) stayed more than 120 hours. The weight of the infants reached a nadir on the fourth day post partum (-5.2% of birth weight). The patient hotel is a medically safe alternative to the traditional well-baby nursery, provided that appropriate criteria for referral are used.

  14. Newborn bloodspot screening policy framework for Australia

    Directory of Open Access Journals (Sweden)

    Peter O'Leary

    2015-09-01

    Full Text Available Background The aim of newborn bloodspot screening (NBS is to identify rare genetic and non-genetic conditions in children soon after birth in order to commence therapies that prevent the development of progressive, serious, and irreversible disabilities. Universal NBS programmes have been implemented in most countries, with minor adaptations to target conditions most relevant to the local healthcare environment. Aims In this article, we describe the initiatives of international and Australian governments to develop policies to address the expansion of NBS in their healthcare systems. Methods We have reviewed published public policies and literature to formulate recommendations based on clinical, social, legal, and ethical principles to inform a national governance and policy framework for Australia. Results Australian policy makers have been slow to develop a coordinated plan. While the experience from other governments can guide our national policy, there are specific areas that require further consideration by Australian health experts. Key reforms involve the separation of policy and operational activities, multidisciplinary decision-making and oversight by the Australian Health Ministers’ Advisory Council for policy direction. Conclusion A formal national policy framework will guide the coordination of NBS services that can adapt to the needs of Australian children and families.

  15. Infant hearing screening in India: Current status and way forward

    Directory of Open Access Journals (Sweden)

    Suneela Garg

    2015-01-01

    Full Text Available Loss or impairment of auditory sense is the most prevalent deficit of all the sensory organs. With virtually no mortality, hearing impairment causes huge impact on one′s social, educational and economic well-being. There are 5-6 infants who are hard of hearing out of 1000 neonates. They will not be identified till they attain 2 or more years of age, by then irreversible damage would have been done. Universal screening for hearing of new-borns is the only way to decrease the burden of deafness in our society. There are tools available which can be administered by health workers after initial training for screening the infants for hearing impairment. Under the aegis of National Programme for Prevention and Control of Deafness (NPPCD of India universal screening can and should be applied. The programme would entail additional financial burden for the initial purchase of screening machines and rehabilitating the identified children.

  16. Present practice of diagnostic imaging in the newborn infants

    International Nuclear Information System (INIS)

    Akamatsu, Hiroshi

    1994-01-01

    The present practice of diagnostic imaging in our NICU (which includes premature unit) was studied, surveying the total 637 admitted newborn infants during the year of 1992. The total number of diagnostic imaging performed other than scout radiography was 939. The number of ultrasonography of the heart and the brain, and brain CT was 752 or 80.0% of the total. These were done more frequently in the cases of very low birth weight infants. In our NICU, ultrasonography including pulse-doppler method, is performed for diagnosis of structural and functional abnormality of the cardiopulmonary systems and also for finding intracranial lesion, on the basis of finding in plain chest films. In spite of various limitation, we are performing, as the necessity commands, fluoroscopic contrast study, angiography, scintigraphy and MRI for the low birth weight (≥1,500g) and mature infants. Some of the actual cases in which diagnostic imaging was helpful were presented. Recently, upon admittance to the NICU for the specific abnormality of the newborn and premature infants, orginally, asymptomatic diseases are often found and diagnosed. This should be the results of progress in diagnostic imaging in recent years. (author)

  17. Occult large epidural hemorrhage in a newborn infant after in-hospital fall.

    Science.gov (United States)

    Sato, R

    2018-05-23

    Management of newborn infants fell in-hospital is especially challenging given the limited signs and symptoms of intracranial hemorrhage in this age group. We present a case of a four day old well appearing newborn infant found to have a severe epidural hemorrhage requiring emergent surgical drainage. Development of imaging protocols for newborn infants suffering in-hospital falls need to consider the potential consequences of missing actionable intracranial hemorrhage when relying on clinical observation as a management strategy.

  18. Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.

    Science.gov (United States)

    Merritt, J Lawrence; Brody, Linnea L; Pino, Gisele; Rinaldo, Piero

    2018-04-20

    Current newborn screening (NBS) for urea cycle disorders (UCD) is incomplete as only distal UCDs are included in most NBS programs by measuring elevated amino acid concentrations. NBS for the proximal UCDs involves the detection in NBS spots of low citrulline values, a finding which is often overlooked because it is considered to be inadequate. We retrospectively analyzed NBS blood spots from known UCD patients comparing the utility of the Region 4 Stork (R4S) interpretive tools to conventional cutoff based interpretation. This study shows the utility of R4S tools in detecting all UCDs, and provides evidence to support the nomination to add proximal UCDs to the recommended uniform screening panel. Copyright © 2018 Elsevier Inc. All rights reserved.

  19. The Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience.

    Science.gov (United States)

    Grosse, Scott D; Thompson, John D; Ding, Yao; Glass, Michael

    2016-06-01

    Newborn screening not only saves lives but can also yield net societal economic benefit, in addition to benefits such as improved quality of life to affected individuals and families. Calculations of net economic benefit from newborn screening include the monetary equivalent of avoided deaths and reductions in costs of care for complications associated with late-diagnosed individuals minus the additional costs of screening, diagnosis, and treatment associated with prompt diagnosis. Since 2001 the Washington State Department of Health has successfully implemented an approach to conducting evidence-based economic evaluations of disorders proposed for addition to the state-mandated newborn screening panel. Economic evaluations can inform policy decisions on the expansion of newborn screening panels. This article documents the use of cost-benefit models in Washington State as part of the rule-making process that resulted in the implementation of screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and 4 other metabolic disorders in 2004, cystic fibrosis (CF) in 2006, 15 other metabolic disorders in 2008, and severe combined immune deficiency (SCID) in 2014. We reviewed Washington State Department of Health internal reports and spreadsheet models of expected net societal benefit of adding disorders to the state newborn screening panel. We summarize the assumptions and findings for 2 models (MCAD and CF) and discuss them in relation to findings in the peer-reviewed literature. The MCAD model projected a benefit-cost ratio of 3.4 to 1 based on assumptions of a 20.0 percentage point reduction in infant mortality and a 13.9 percentage point reduction in serious developmental disability. The CF model projected a benefit-cost ratio of 4.0-5.4 to 1 for a discount rate of 3%-4% and a plausible range of 1-2 percentage point reductions in deaths up to age 10 years. The Washington State cost-benefit models of newborn screening were broadly consistent with peer

  20. Maternal lactation for preterm newborn infants.

    Science.gov (United States)

    Aguayo, J

    2001-11-01

    In recent decades, neonatologists have made considerable progress in life support techniques, especially in the treatment and prevention of respiratory disorders, which has led to a higher neonatal survival rate. Research into neonatal nutrition has also produced great benefits. It has been found that one of the key points regarding the improved survival rate of infants is the necessity for nutrition that is both adequate and as natural as possible. In this respect, it is necessary to achieve a better understanding of the process, protection, support and maintenance of maternal lactation in neonatal units. Humanization of perinatal attention during delivery, respect for the rights of parents and their children, protection of the mother and child bonding process, early skin contact with the mother and greater attention to individualized care are all key factors in the reinforcement of maternal lactation and are issues that must be addressed within the field of neonatology. Research activities need to concern themselves with: (1) acquiring greater knowledge concerning the common problems and difficulties that arise with mothers and their preterm babies; (2) training healthcare professionals in these aspects, for example in the extraction and storage of milk and in improving techniques of emotional and communicational skills; (3) by means of specific programmes such as the setting up of support groups, so that the effort made to encourage the initiation of breastfeeding is justified by its continuation for as long as possible. Thus, we hope to establish standards of care based on starting, encouraging and prolonging maternal lactation, in sufficient quantity and quality, always remembering that the fundamental goal of our research is the well-being of the child and its family.

  1. Obstetric Antecedents to Body Cooling Treatment of the Newborn Infant

    Science.gov (United States)

    Nelson, David B.; Lucke, Ashley M.; McIntire, Donald D.; Sánchez, Pablo J.; Leveno, Kenneth J.; Chalak, Lina F.

    2014-01-01

    Objective Obstetric antecedents were analyzed in births where the infant received whole-body cooling for neonatal encephalopathy. Methods This retrospective cohort study included all live-born singleton infants delivered at or beyond 36 weeks gestation from October 2005 through December 2011. Infants who had received whole-body cooling identified by review of a prospective neonatal registry were compared to a control group comprising the remaining obstetric population delivered at greater than 36 weeks but not cooled. Univariable analysis was followed by a staged, stepwise selection of variables with the intent to rank significant risk factors for cooling. Results A total of 86,371 women delivered during the study period and 98 infants received whole-body cooling (1.1/1,000 livebirths). Of these 98 infants, 80 (88%) newborns had moderate encephalopathy and 10 (12%) had severe encephalopathy prior to cooling. Maternal age less than or equal to 15 years, low parity, maternal body habitus (BMI ≥ 40 kg/m2), diabetes, preeclampsia, induction, epidural analgesia, chorioamnionitis, length of labor, and mode of delivery were associated with significantly increased risk of infant cooling during univariable analysis. Catastrophic events to include umbilical cord prolapse (OR 14; 95%CI, 3–72), placental abruption (OR 17; 95%CI, 7–44), uterine rupture (OR 130; 95%CI, 11–1477) were the strongest factors associated with infant cooling after staged-stepwise logistic analysis. Conclusion A variety of intrapartum characteristics were associated with infant cooling for neonatal encephalopathy with the most powerful antecedents being umbilical cord prolapse, placental abruption, and uterine rupture. PMID:24530976

  2. Ventilatory response of the newborn infant to mild hypoxia.

    Science.gov (United States)

    Cohen, G; Malcolm, G; Henderson-Smart, D

    1997-09-01

    The transition from an immature (biphasic) to a mature (sustained hyperpneic) response to a brief period of sustained hypoxia is believed to be well advanced by postnatal day 10 for newborn infants. However, a review of the supporting evidence convinced us that this issue warranted further, more systematic investigation. Seven healthy term infants aged 2 days to 8 weeks were studied. The ventilatory response (VR) elicited by 5 min breathing of 15% O2 was measured during quiet sleep. Arterial SaO2 (pulse oximeter) and minute ventilation (expressed as a change from control, delta V'i) were measured continuously. Infants were wrapped in their usual bedding and slept in open cots at room temperature (23 degrees-25 degrees). Infants aged 2-3 days exhibited predominantely a sustained hypopnea during the period of hypoxia (delta V'i = -2% at 1 min, -13% at 5 min). At 8 weeks of age, the mean response was typically biphasic (delta V'i = +9% at 1 min, -4% at 5 min). This age-related difference between responses was statistically significant (two-way ANOVA by time and age-group; interaction P < 0.05). These data reveal that term infants studied under ambient conditions during defined quiet sleep may exhibit an immature VR to mild, sustained hypoxia for at least 2 months after birth. This suggests that postnatal development of the O2 chemoreflex is slower than previously thought.

  3. Newborn Screening for Sickle Cell Disease in Liberia: A Pilot Study.

    Science.gov (United States)

    Tubman, Venée N; Marshall, Roseda; Jallah, Wilhemina; Guo, Dongjing; Ma, Clement; Ohene-Frempong, Kwaku; London, Wendy B; Heeney, Matthew M

    2016-04-01

    In malaria-endemic countries in West Africa, sickle cell disease (SCD) contributes to childhood mortality. Historically, Liberia had regions wherein hemoglobin S and beta-thalassemia trait were mutually exclusive. Data on hemoglobinopathies in the Monrovia, the capital, are outdated and do not reflect urban migration. Updating the epidemiology of SCD is necessary to plan a public health and clinical agenda. Neither newborn screening (NBS) nor screening tools were available in country. This pilot study aimed to determine the feasibility of NBS using a South-South partnership and define the incidence of sickle cell trait (SCT) and SCD in Monrovia. This descriptive epidemiologic feasibility study collected dried blood spots from 2,785 consecutive newborns delivered at a hospital in Monrovia. Samples were analyzed by isoelectric focusing at a regional reference laboratory. Infants with SCD were referred for preventive care. SCT occurred in 10.31% of infants screened. SCD occurred in 33 infants screened [1.19% (95% confidence interval [CI]: 0.79-1.59%)] (FS: 28/33, FSB: 2/33, FSA: 2/33, FSX: 1/33). There were no infants with FSC phenotype observed. Nonsickling hemoglobin phenotypes "FC" and "F" were each present in three infants screened. Seventy-six percent of infants with SCD were brought to care, demonstrating the feasibility of our approach. The incidence of SCD and other hemoglobinopathies remains high in Liberia. Additional studies are needed to clarify sickle genotypes and identify the contribution of silent beta-thalassemia alleles. By developing regional partnerships, countries similar to Liberia can acquire current data to inform NBS as an important public health initiative toward improving child health. © 2016 Wiley Periodicals, Inc.

  4. Enhancing the quality and efficiency of newborn screening programs through the use of health information technology.

    Science.gov (United States)

    Downing, Gregory J; Zuckerman, Alan E; Coon, Constanze; Lloyd-Puryear, Michele A

    2010-04-01

    A variety of efforts are underway at national, state, regional, and local levels to enhance the performance of programs for early detection of inherited diseases and conditions of newborn infants. Newborn screening programs serve a vital purpose in identifying nonsymptomatic clinical conditions and enabling early intervention strategies that lessen morbidity and mortality. Currently, the programs of most intense focus are early hearing detection and intervention, using physiological techniques for audiology screening and use of newborn dried blood spots for detection of metabolites or proteins representing inherited disorders. One of the primary challenges to effective newborn screening programs to date has been the inability to provide information in a timely and easily accessible way to a variety of users. Other challenging communication issues being faced include the complexity introduced by the diversity of conditions for which testing is conducted and laboratory methods being used by each state's screening programs, lack of an electronic information infrastructure to facilitate information exchange, and variation in policies that enable access to information while protecting patient privacy and confidentiality. In this study, we address steps being taken to understand these challenges, outline progress made to date to overcome them, and provide examples of how electronic health information exchange will enhance the utility of newborn screening. It is likely that future advances in science and technology will bring many more opportunities to prevent and preempt disabilities among children through early detection programs. To take their advantage, effective communication strategies are needed among the public health, primary care practice, referral/specialty service, and consumer advocacy communities to provide continuity of information required for medical decision-making throughout prenatal, newborn, and early childhood periods of patient care. Published by

  5. Analysis of risk factors associated with unilateral hearing loss in children who initially passed newborn hearing screening.

    Science.gov (United States)

    Appelbaum, Eric N; Howell, Jessica B; Chapman, Derek; Pandya, Arti; Dodson, Kelley M

    2018-03-01

    To analyze 2007 Joint Committee on Infant Hearing (JCIH) risk factors in children with confirmed unilateral hearing loss (UHL) who initially passed newborn hearing screening. Retrospective record review of 16,108 infants who passed newborn hearing screening but had one or more JCIH risk factors prompting subsequent follow-up through the universal newborn hearing screening (UNHS) program in Virginia from 2010 to 2012. The study was reviewed and qualified as exempt by the Virginia Commonwealth University Institutional Review Board (IRB) and the Virginia Department of Health. Over the 2-year study period, 14896 (4.9% of total births) children passed UNHS but had the presence of one or more JCIH risk factor. Ultimately, we identified 121 babies from this group with confirmed hearing loss (0.7%), with 48 babies (0.2%) showing UHL. The most common risk factors associated with the development of confirmed UHL after passing the initial screen were neonatal indicators, craniofacial anomalies, family history, and stigmata of syndrome associated with hearing loss. Neonatal indicators and craniofacial anomalies were the categories most often found in children with confirmed unilateral hearing loss who initially passed their newborn hearing screen. While neonatal indicators were also the most common associated risk factor in all hearing loss, craniofacial abnormalities are relatively more common in children with UHL who initially passed newborn hearing screening. Further studies assessing the etiology underlying the hearing loss and risk factor associations are warranted. Copyright © 2018 Elsevier B.V. All rights reserved.

  6. Dosimetry of iodine-123 for newborn and infant

    International Nuclear Information System (INIS)

    Guilhem, M.T.; Therain, F.

    1987-01-01

    Iodine-123 ( 123 I) is a radionuclide of choice of neonatal hypothyroidism diagnosis. It is important to know infant main organs adsorbed doses during a thyroid scan with 123 I. Absorbed doses are already available for adults: for infants, they must be transformed taking account of organs sizes and inter-organs distances. Calculations are done for commercially available 123 I(p,2n) and 123 I(p,5n). Important contamination of 124 I in 123 I(p,2n) increases considerably the absorbed-dose during thyroid scan of a newborn (the ratio 124 I/ 123 I doubles every 15h). For routinely used activities, thyroid absorbed dose, 24 h after end of production, is fifteen times higher with 123 I(p,5n) than with 99m Tc: for one month old child; total body absorbed dose is of the same order of magnitude [fr

  7. Newborn screening for congenital cytomegalovirus using real-time polymerase chain reaction in umbilical cord blood.

    Science.gov (United States)

    Barkai, Galia; Barzilai, Asher; Mendelson, Ella; Tepperberg-Oikawa, Michal; Roth, Daphne Ari-Even; Kuint, Jacob

    2013-06-01

    Congenital cytomegalovirus (C-CMV) infection affects 0.4-2% of newborn infants in Israel, most of whom are asymptomatic. Of these, 10-20% will subsequently develop hearing impairment and may have benetitted from early detection by neonatal screeing. To retrospectively anaIyze the results of a screening program for C-CMV performed at the Sheba Medical Center, Tel, Hashomer, during a 1 year period, using real-time polymerase chain reaction (rt-PCR) from umbilical cord blood. CMV DNA was detected by rt-PCR performed on infants' cord blood. C-CMV was confirmed by urine culture (Shell-vial). All confirmed cases were further investigated for C-CMV manifestations by head ultrasound, complete blood count, liver enzyme measurement, ophthalmology examination and hearing investigation. During the period 1 June 2009 to 31 May 2010, 11,022 infants were born at the Sheba Medical Center, of whom 8105 (74%) were screened. Twenty-three (0.28%) were positive for CMV and 22 of them (96%) were confirmed by urine culture. Two additional infants, who had not been screened, were detected after clinical suspicion. All 24 infants were further Investigated, and 3 (12.5%) had central nervous system involvement (including hearing impairment) and were offered intravenous ganciclovir for 6 weeks. Eighteen infants (82%) would not otherwise have been diagnosed. The relatively low incidence of C-CMV detected in our screening program probably reflects the low sensitivity of cord blood screening. Nevertheless, this screening program reliably detected a non-negligible number of infants who could benefit from early detection. Other screening methods using saliva should be investigated further.

  8. Contribution of targeted saliva screening for congenital CMV-related hearing loss in newborns who fail hearing screening.

    Science.gov (United States)

    Ari-Even Roth, Daphne; Lubin, Daniel; Kuint, Jacob; Teperberg-Oikawa, Michal; Mendelson, Ella; Strauss, Tzipora; Barkai, Galia

    2017-11-01

    We previously reported a 2.2% rate of infants born with sensorineural hearing loss (SNHL) due to congenital cytomegalovirus (cCMV) infection identified by universal neonatal screen for cCMV using saliva. To evaluate the contribution of targeted saliva screening for cCMV to the detection of infants born with cCMV-related SNHL who failed universal newborn hearing screening (UNHS). We retrospectively reviewed the audiological and medical records of infants who failed UNHS and were tested for cCMV using saliva sample prior to discharge at Sheba Medical Center between 2014 and 2015. Positive cases were confirmed by urine sample. Two hundred (1%) of the 19 830 infants tested during the study period failed in-hospital hearing screening. A saliva specimen was obtained prior to discharge in 187 infants (93.5% of those who failed UNHS). In 178 infants saliva testing was performed at ≤21 days of chronological age and yielded results. cCMV infection was identified in 4/178 tested infants (2.25%, 95% CI 0.8% to 5.3%), of whom three were diagnosed with SNHL (1.7%, 95% CI 0.5% to 4.4%) and offered antiviral treatment. Two of the tested infants (1.12%, 95% CI 0.2% to 3.6%) were diagnosed with cCMV solely due to failure in UNHS. Occult central nervous system (CNS) symptoms of cCMV infection were detected in 2/4 infants following targeted investigation. Targeted cCMV screening in newborns who failed UNHS contributed to the early detection of infants born with cCMV-related isolated SNHL or with occult CNS symptoms who could potentially benefit from antiviral treatment. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  9. Hepatitis B immunisation for newborn infants of hepatitis B surface antigen-positive mothers

    DEFF Research Database (Denmark)

    Lee, C; Gong, Yanzhang; Brok, J

    2006-01-01

    Hepatitis B vaccine and hepatitis B immunoglobulin are considered for newborn infants of HBsAg-positive mothers to prevent hepatitis B infection.......Hepatitis B vaccine and hepatitis B immunoglobulin are considered for newborn infants of HBsAg-positive mothers to prevent hepatitis B infection....

  10. Population newborn screening for inherited metabolic disease: current UK perspectives.

    Science.gov (United States)

    Green, A; Pollitt, R J

    1999-06-01

    Some of the generally accepted criteria for screening programmes are inappropriate for newborn metabolic screening as they ignore the family dimension and the importance of timely genetic information. Uncritical application of such criteria creates special difficulties for screening by tandem mass spectrometry, which can detect a range diseases with widely different natural histories and responsiveness to treatment. Further difficulties arise from increasing demands for direct proof of the effects of screening on long-term morbidity and mortality. The randomized controlled trial is held to be the gold standard, but for ethical and practical reasons it will be impossible to achieve for such relatively rare diseases. This approach also oversimplifies the complex matrix of costs and benefits of newborn metabolic screening. A more workable approach could involve Bayesian synthesis, combining quantitative performance data from carefully designed prospective pilot studies of screening with existing experience of the natural history, diagnosis, and management of the individual disorders concerned.

  11. Development of emotional sweating in the newborn infant.

    Science.gov (United States)

    Harpin, V A; Rutter, N

    1982-09-01

    Sweating from the palm and sole occurs independently of ambient temperature but is influenced by emotional factors. It thus provides a useful objective measure of emotional state. The development of this emotional sweating in the newborn was investigated by measuring palmar water loss and relating it to the infant's state of arousal. Although 433 individual measurements were made on 124 babies of gestational age 25 to 41 weeks and postnatal age 15 hours to 9 weeks. Palmar water loss was also recorded continuously in 22 infants undergoing heel prick for routine blood sampling. In babies of 37 weeks' gestation or more, there was a clear relationship between palmar water loss and arousal from the day of birth, and by the third week levels on vigorous crying were comparable with those of an anxious adult. Less mature babies did not show emotional sweating at birth; it was first seen at the equivalent of 36 to 37 weeks' gestation regardless of maturity. Continuous recordings confirmed the cross-sectional data and illustrated the abrupt nature of the response. Emotional sweating could be a useful tool for the assessment of emotional state of the newborn.

  12. Financing state newborn screening programs: sources and uses of funds.

    Science.gov (United States)

    Johnson, Kay; Lloyd-Puryear, Michele A; Mann, Marie Y; Ramos, Lauren Raskin; Therrell, Bradford L

    2006-05-01

    Financing for newborn screening is different from virtually all other public health programs. All except 5 screening programs collect fees as the primary source of program funding. A fee-based approach to financing newborn screening has been adopted by most states, to ensure consistent funding for this critical public health activity. Two types of data are reported here, ie, primary data from a survey of 37 state public health agencies and findings from exploratory case studies from 7 states. Most of the programs that participated in this survey (73%) reported that their newborn screening funding increased between 2002 and 2005, typically through increased fees and to a lesser extent through Medicaid, Title V Maternal and Child Health Services Block Grant, and state general revenue funding. All of the responding states that collect fees (n = 31) use such funds to support laboratory expenses, and most (70%) finance short-term follow-up services and program management. Nearly one half (47%) finance longer-term follow-up services, case management, or family support beyond diagnosis. Other states (43%) finance genetic or nutritional counseling and formula foods or treatment. Regardless of the source of funds, the available evidence indicates that states are committed to maintaining their programs and securing the necessary financing for the initial screening through diagnosis. Use of federal funding is currently limited; however, pressure to provide dedicated federal funding would likely increase if national recommendations for a uniform newborn screening panel were issued.

  13. Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

    Science.gov (United States)

    Stroek, Kevin; Bouva, Marelle J; Schielen, Peter C J I; Vaz, Frédéric M; Heijboer, Annemieke C; de Jonge, Robert; Boelen, Anita; Bosch, Annet M

    2018-03-21

    Galactokinase (GALK) deficiency causes cataract leading to severe developmental consequences unless treated early. Because of the easy prevention and rapid reversibility of cataract with treatment, the Dutch Health Council advised to include GALK deficiency in the Dutch newborn screening program. The aim of this study is to establish the optimal screening method and cut-off value (COV) for GALK deficiency screening by performing a systematic review of the literature of screening strategies and total galactose (TGAL) values and by evaluating TGAL values in the first week of life in a cohort of screened newborns in the Netherlands. Systematic literature search strategies in OVID MEDLINE and OVID EMBASE were developed and study selection, data collection and analyses were performed by two independent investigators. A range of TGAL values measured by the Quantase Neonatal Total Galactose screening assay in a cohort of Dutch newborns in 2007 was evaluated. Eight publications were included in the systematic review. All four studies describing screening strategies used TGAL as the primary screening marker combined with galactose-1-phosphate uridyltransferase (GALT) measurement that is used for classical galactosemia screening. TGAL COVs of 2200 μmol/L, 1665 μmol/L and 1110 μmol/L blood resulted in positive predictive values (PPV) of 100%, 82% and 10% respectively. TGAL values measured in the newborn period were reported for 39 GALK deficiency patients with individual values ranging from 3963 to 8159 μmol/L blood and 2 group values with mean 8892 μmol/L blood (SD ± 5243) and 4856 μmol/L blood (SD ± 461). Dutch newborn screening data of 72,786 newborns from 2007 provided a median TGAL value of 110 μmol/L blood with a range of 30-2431 μmol/L blood. Based on TGAL values measured in GALK deficiency patients reported in the literature and TGAL measurements in the Dutch cohort by newborn screening we suggest to perform the GALK screening with

  14. How Are Newborn Screening Tests Done?

    Science.gov (United States)

    ... If the infant has normal hearing, the microphone picks up an echo reflected back into the ear ... hearing problem. Pulse Oximetry In some cases, hospital staff will perform pulse oximetry (pronounced ox-EM-i- ...

  15. Newborn hearing screening: analysis and outcomes after 100,000 births in Upper-Normandy French region.

    Science.gov (United States)

    Caluraud, Sophie; Marcolla-Bouchetemblé, Aurore; de Barros, Angélique; Moreau-Lenoir, Florence; de Sevin, Emmanuel; Rerolle, Stéphane; Charrière, Elisabeth; Lecler-Scarcella, Véronique; Billet, François; Obstoy, Marie-Françoise; Amstutz-Montadert, Isabelle; Marie, Jean-Paul; Lerosey, Yannick

    2015-06-01

    Neonatal hearing impairment is a common disorder with a prevalence of 1 to 2‰ worldwide, with significant consequences on overall development when rehabilitated too late. New-born hearing screening has been implemented in the 1990s in most European countries and the USA. The Upper-Normandy region of France has been conducting a pilot program since 1999. The aim of this prospective study was to evaluate and critically analyse it. The Upper-Normandy universal new-born hearing screening program is performed in two steps. Between 1999 and 2004, first, we administered a Transient Evoked Oto Acoustic Emission (TEOAE) test was administered a few days after birth for healthy newborns without risk factors. For newborns admitted to a neonatal intensive care unit (NICU) or presenting risk factors, was administered an automated auditory brainstem response (AABR) test prior to discharge. Second, newborns who failed the initial hearing screening were retested as outpatients using TEOAE. Since 2004, infants who failed the initial screen were tested with AABR 3 to 4 weeks later as outpatients, providing an opportunity to compare the two protocols. Overall screening coverage in the Upper-Normandy region is 99.8%. First step coverage is 99.58% in well-infant nurseries and 97.09% in the NICU. The test-retest procedure during the first step and the use of AABR for the second resulted in higher follow-up rates and lower false positive rates. The Upper-Normandy region universal newborn hearing screening program facilitated diagnosis and rehabilitation of infants before age of 9 months, most notably when severe to profound hearing impairment was found. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  16. Neural breathing pattern in newborn infants pre- and postextubation.

    Science.gov (United States)

    Iyer, Narayan P; Dickson, John; Ruiz, Michelle E; Chatburn, Robert; Beck, Jennifer; Sinderby, Chister; Rodriguez, Ricardo J

    2017-12-01

    To describe the neural breathing pattern before and after extubation in newborn infants. Prospective, observational study. In infants deemed ready for extubation, the diaphragm electrical activity (EAdi) was continuously recorded from 30 minute before to two hours after extubation. Total of 25 neonates underwent 29 extubations; 10 extubations resulted in re-intubation within 72 hours. Postextubation, there was an increase in peak EAdi (EAdi-max) and EAdi-delta (peak minus minimum EAdi) in both groups. The pre- to postextubation change in EAdi-max (8.9-11.1 μv) and EAdi-delta (6-8 μv) was less in the failure group in comparison with the change in EAdi-max (10.2-13.4 μv) and EAdi-delta (6.3-10.6 μv) in the success group, (p = 0.02 and 0.01, respectively). In our neonatal cohort, extubation failure was associated with a smaller increase in peak and delta EAdi after extubation. If confirmed, these findings indicate an important cause of extubation failure in preterm infants. ©2017 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  17. Infant Directed Speech Enhances Statistical Learning in Newborn Infants: An ERP Study.

    Directory of Open Access Journals (Sweden)

    Alexis N Bosseler

    Full Text Available Statistical learning and the social contexts of language addressed to infants are hypothesized to play important roles in early language development. Previous behavioral work has found that the exaggerated prosodic contours of infant-directed speech (IDS facilitate statistical learning in 8-month-old infants. Here we examined the neural processes involved in on-line statistical learning and investigated whether the use of IDS facilitates statistical learning in sleeping newborns. Event-related potentials (ERPs were recorded while newborns were exposed to12 pseudo-words, six spoken with exaggerated pitch contours of IDS and six spoken without exaggerated pitch contours (ADS in ten alternating blocks. We examined whether ERP amplitudes for syllable position within a pseudo-word (word-initial vs. word-medial vs. word-final, indicating statistical word learning and speech register (ADS vs. IDS would interact. The ADS and IDS registers elicited similar ERP patterns for syllable position in an early 0-100 ms component but elicited different ERP effects in both the polarity and topographical distribution at 200-400 ms and 450-650 ms. These results provide the first evidence that the exaggerated pitch contours of IDS result in differences in brain activity linked to on-line statistical learning in sleeping newborns.

  18. Newborn hearing screening program: association between hearing loss and risk factors

    OpenAIRE

    Pereira, Priscila Karla Santana; Martins, Adriana de Souza; Vieira, Márcia Ribeiro; Azevedo, Marisa Frasson de

    2007-01-01

    BACKGROUND: hearing loss in newborns. Aim: to verify the prevalence of auditory alterations in newborns of Hospital São Paulo (hospital), observing if there are any correlations with the following variables: birth weight, gestational age, relation weight/gestational age and risk factors for hearing loss. METHOD: A retrospective analysis of the hospital records of 1696 newborns; 648 records of preterm infants and 1048 records of infants born at term. All of the infants had been submitted to an...

  19. Students as Technicians: Screening Newborns for Cystic Fibrosis

    Science.gov (United States)

    Gusky, Sharon

    2014-01-01

    In this activity, freshman college students learn biotechnology techniques while playing the role of a laboratory technician. They perform simulations of three diagnostic tests used to screen newborns for cystic fibrosis. By performing an ELISA, a PCR analysis, and a conductivity test, students learn how biotechnology techniques can be used to…

  20. Newborn screening for classic galactosemia and primary congenital ...

    African Journals Online (AJOL)

    Objectives. The main objective of this work was to establish the incidence of classic galactosaemia and primary congenital hypothyroidism in newborns in the Nkangala district of Mpumalanga. In the process a cost-effective protocol for neonatal screening of both diseases was developed. Study design and setting.

  1. Newborn Hearing Screening: An Analysis of Current Practices

    Science.gov (United States)

    Houston, K. Todd; Bradham, Tamala S.; Munoz, Karen F.; Guignard, Gayla Hutsell

    2011-01-01

    State coordinators of early hearing detection and intervention (EHDI) programs completed a strengths, weaknesses, opportunities, and threats, or SWOT, analysis that consisted of 12 evaluative areas of EHDI programs. For the newborn hearing screening area, a total of 293 items were listed by 49 EHDI coordinators, and themes were identified within…

  2. Lower neonatal screening thyroxine concentrations in Down syndrome newborns

    NARCIS (Netherlands)

    van Trotsenburg, A. S. P.; Vulsma, T.; van Santen, H. M.; Cheung, W.; de Vijlder, J. J. M.

    2003-01-01

    There is an unexplained higher incidence of congenital hypothyroidism (CH) detected by T-4-based neonatal screening programs and a very high prevalence of (mild) plasma TSH elevation in young children with Down syndrome (DS). To determine whether newborns with DS have decreased blood T-4

  3. Universal newborn hearing screening: preliminary experience at the University Hospital of Cagliari

    Directory of Open Access Journals (Sweden)

    Giulia Pinna

    2012-10-01

    Full Text Available Bilateral congenital or acquired sensorineural hearing loss is a pathological condition affecting 1-2 children per 1,000 live births; it represents a major issue in public health because its late identification can negatively affect speech and language development. The aim of hearing screening is to obtain diagnosis and management of hearing loss as soon as possible; in fact early diagnosis and treatment allow children with congenital hearing impairment to acquire adequate linguistic competence. The present study reports our preliminary experience in newborn hearing screening at Neonatology services of University of Cagliari (Italy. During the first semester of surveillance, between January 2012 and June 2012, hearing screening was performed on a total of 901 babies using two different methods, TEOAEs in healthy neonates and automated ABR in high-risk babies. All infants were screened prior to hospital discharge; in some cases, especially for preterm infants of Neonatal Intensive Care Unit and Puericulture Institute, the screening was performed after discharge, to achieve a possible better global and acoustic maturation; 5 cases of hearing impairment were found. In the present study the Authors confirmed that it is possible to start a universal hearing screening in a relatively short time reaching the percentages suggested by Joint Committee on Infant Hearing.

  4. Saliva Polymerase-Chain-Reaction Assay for Cytomegalovirus Screening in Newborns

    Science.gov (United States)

    Boppana, Suresh B.; Ross, Shannon A.; Shimamura, Masako; Palmer, April L.; Ahmed, Amina; Michaels, Marian G.; Sánchez, Pablo J.; Bernstein, David I.; Tolan, Robert W.; Novak, Zdenek; Chowdhury, Nazma; Britt, William J.; Fowler, Karen B.

    2011-01-01

    BACKGROUND Congenital cytomegalovirus (CMV) infection is an important cause of hearing loss, and most infants at risk for CMV-associated hearing loss are not identified early in life because of failure to test for the infection. The standard assay for newborn CMV screening is rapid culture performed on saliva specimens obtained at birth, but this assay cannot be automated. Two alternatives — real-time polymerase-chain-reaction (PCR)–based testing of a liquid-saliva or dried-saliva specimen obtained at birth — have been developed. METHODS In our prospective, multicenter screening study of newborns, we compared real-time PCR assays of liquid-saliva and dried-saliva specimens with rapid culture of saliva specimens obtained at birth. RESULTS A total of 177 of 34,989 infants (0.5%; 95% confidence interval [CI], 0.4 to 0.6) were positive for CMV, according to at least one of the three methods. Of 17,662 newborns screened with the use of the liquid-saliva PCR assay, 17,569 were negative for CMV, and the remaining 85 infants (0.5%; 95% CI, 0.4 to 0.6) had positive results on both culture and PCR assay. The sensitivity and specificity of the liquid-saliva PCR assay were 100% (95% CI, 95.8 to 100) and 99.9% (95% CI, 99.9 to 100), respectively, and the positive and negative predictive values were 91.4% (95% CI, 83.8 to 96.2) and 100% (95% CI, 99.9 to 100), respectively. Of 17,327 newborns screened by means of the dried-saliva PCR assay, 74 were positive for CMV, whereas 76 (0.4%; 95% CI, 0.3 to 0.5) were found to be CMV-positive on rapid culture. Sensitivity and specificity of the dried-saliva PCR assay were 97.4% (95% CI, 90.8 to 99.7) and 99.9% (95% CI, 99.9 to 100), respectively. The positive and negative predictive values were 90.2% (95% CI, 81.7 to 95.7) and 99.9% (95% CI, 99.9 to 100), respectively. CONCLUSIONS Real-time PCR assays of both liquid- and dried-saliva specimens showed high sensitivity and specificity for detecting CMV infection and should be

  5. Why do premature newborn infants display elevated blood adenosine levels?

    Science.gov (United States)

    Panfoli, Isabella; Cassanello, Michela; Bruschettini, Matteo; Colella, Marina; Cerone, Roberto; Ravera, Silvia; Calzia, Daniela; Candiano, Giovanni; Ramenghi, Luca

    2016-05-01

    Our preliminary data show high levels of adenosine in the blood of very low birth weight (VLBW) infants, positively correlating to their prematurity (i.e. body weight class). This prompted us to look for a mechanism promoting such impressive adenosine increase. We hypothesized a correlation with oxygen challenge. In fact, it is recognized that either oxygen lack or its excess contribute to the pathogenesis of the injuries of prematurity, such as retinopathy (ROP) and periventricular white matter lesions (PWMI). The optimal concentration of oxygen for resuscitation of VLBW infants is currently under revision. We propose that the elevated adenosine blood concentrations of VLBW infants recognizes two sources. The first could be its activity-dependent release from unmyelinated brain axons. Adenosine in this respect would be an end-product of the hypometabolic VLBW newborn unmyelinated axon intensely firing in response to the environmental stimuli consequent to premature birth. Adenosine would be eventually found in the blood due to blood-brain barrier immaturity. In fact, adenosine is the primary activity-dependent signal promoting differentiation of premyelinating oligodendrocyte progenitor cells (OPC) into myelinating cells in the Central Nervous System, while inhibiting their proliferation and inhibiting synaptic function. The second, would be the ecto-cellular ATP synthesized by the endothelial cell plasmalemma exposed to ambient oxygen concentrations due to premature breathing, especially in lung. ATP would be rapidly transformed into adenosine by the ectonucleotidase activities such as NTPDase I (CD39), and NT5E (CD73). An ectopic extra-mitochondrial aerobic ATP synthetic ability was reported in many cell plasma-membranes, among which endothelial cells. The potential implications of the cited hypotheses for the neonatology area would be great. The amount of oxygen administration for reviving of newborns would find a molecular basis for its assessment. VLBW

  6. Contamination of dried blood spots - an underestimated risk in newborn screening.

    Science.gov (United States)

    Winter, Theresa; Lange, Anja; Hannemann, Anke; Nauck, Matthias; Müller, Cornelia

    2018-01-26

    Newborn screening (NBS) is an established screening procedure in many countries worldwide, aiming at the early detection of inborn errors of metabolism. For decades, dried blood spots have been the standard specimen for NBS. The procedure of blood collection is well described and standardized and includes many critical pre-analytical steps. We examined the impact of contamination of some anticipated common substances on NBS results obtained from dry spot samples. This possible pre-analytical source of uncertainty has been poorly examined in the past. Capillary blood was obtained from 15 adult volunteers and applied to 10 screening filter papers per volunteer. Nine filter papers were contaminated without visible trace. The contaminants were baby diaper rash cream, baby wet wipes, disinfectant, liquid infant formula, liquid infant formula hypoallergenic (HA), ultrasonic gel, breast milk, feces, and urine. The differences between control and contaminated samples were evaluated for 45 NBS quantities. We estimated if the contaminations might lead to false-positive NBS results. Eight of nine investigated contaminants significantly altered NBS analyte concentrations and potentially caused false-positive screening outcomes. A contamination with feces was most influential, affecting 24 of 45 tested analytes followed by liquid infant formula (HA) and urine, affecting 19 and 13 of 45 analytes, respectively. A contamination of filter paper samples can have a substantial effect on the NBS results. Our results underline the importance of good pre-analytical training to make the staff aware of the threat and ensure reliable screening results.

  7. High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice.

    Science.gov (United States)

    Maines, Evelina; Gugelmo, Giorgia; Tadiotto, Elisa; Pietrobelli, Angelo; Campostrini, Natascia; Pasini, Andrea; Ion-Popa, Florina; Vincenzi, Monica; Teofoli, Francesca; Camilot, Marta; Bordugo, Andrea

    2017-10-01

    Breast-feeding is an unequalled way of providing optimal food for infants' healthy growth and development and the WHO recommends that infants should be exclusively breast-fed for the first 6 months of life. For mothers who are unable to breast-feed or who decide not to, infant formulas are the safest alternative. Despite recommendations, it is possible that parents make potentially harmful nutritional choices for their children because of cultural beliefs or misinformation on infant nutrition. We describe a possible health risk of not breast-feeding, highlighting a potentially dangerous dietetic practice. Design/Setting/Subjects We report the case of a newborn who was fed with undiluted goat's milk because her mother could not breast-feed and was not aware of infant formulas. The dietary mistake was detected because of a positive expanded newborn screening result, characterized by severe hypertyrosinaemia with high methionine and phenylalanine levels, a pattern suggestive of severe liver impairment. The pattern of plasma amino acids was related to a goat's milk diet, because of its very different composition compared with human milk and infant formula. Our experience demonstrates that, when breast-feeding is not possible or is not exclusive, infants may be at risk of dangerous nutritional practices, including diets with very high protein content, such as a goat's milk diet. Families of not breast-fed infants may need appropriate advice on safe alternatives for infant nutrition to avoid the risks of inappropriate diets.

  8. First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency—Clinical Achievements and Insights

    Directory of Open Access Journals (Sweden)

    Erez Rechavi

    2017-11-01

    Full Text Available Severe combined immunodeficiency (SCID, the most severe form of T cell immunodeficiency, is detectable through quantification of T cell receptor excision circles (TRECs in dried blood spots obtained at birth. Herein, we describe the results of the first year of the Israeli SCID newborn screening (NBS program. This important, life-saving screening test is available at no cost for every newborn in Israel. Eight SCID patients were diagnosed through the NBS program in its first year, revealing an incidence of 1:22,500 births in the Israeli population. Consanguine marriages and Muslim ethnic origin were found to be a risk factor in affected newborns, and a founder effect was detected for both IL7Rα and DCLRE1C deficiency SCID. Lymphocyte subset analysis and TREC quantification in the peripheral blood appear to be sufficient for confirmation of typical and leaky SCID and ruling out false positive (FP results. Detection of secondary targets (infants with non-SCID lymphopenia did not significantly affect the management or outcomes of these infants in our cohort. In the general, non-immunodeficient population, TREC rises along with gestational age and birth weight, and is significantly higher in females and the firstborn of twin pairs. Low TREC correlates with both gestational age and birth weight in extremely premature newborns. Additionally, the rate of TREC increase per week consistently accelerates with gestational age. Together, these findings mandate a lower cutoff or a more lenient screening algorithm for extremely premature infants, in order to reduce the high rate of FPs within this group. A significant surge in TREC values was observed between 28 and 30 weeks of gestation, where median TREC copy numbers rise by 50% over 2 weeks. These findings suggest a maturational step in T cell development around week 29 gestation, and imply moderate to late preterms should be screened with the same cutoff as term infants. The SCID NBS program is still

  9. Holocarboxylase synthetase deficiency pre and post newborn screening

    Directory of Open Access Journals (Sweden)

    Taraka R. Donti

    2016-06-01

    Full Text Available Holocarboxylase synthetase deficiency is an autosomal recessive disorder of biotin metabolism resulting in multiple carboxylase deficiency. The typical presentation described in the medical literature is of neonatal onset within hours to weeks of birth with emesis, hypotonia, lethargy, seizures, metabolic ketolactic acidosis, hyperammonemia, developmental delay, skin rash and alopecia. The condition is screened for by newborn screening (NBS tandem mass spectroscopy by elevated hydroxypentanoylcarnitine on dried blood spots. Urine organic acid profile may demonstrate elevated lactic, 3-OH isovaleric, 3-OH propionic, 3-MCC, methylcitric acids, and tiglylglycine consistent with loss of function of the above carboxylases. Here we describe a cohort of patients, 2 diagnosed pre-NBS and 3 post-NBS with broad differences in initial presentation and phenotype. In addition, prior to the advent of NBS, there are isolated reports of late-onset holocarboxylase synthetase deficiency in the medical literature, which describe patients diagnosed between 1 and 8 years of life, however to our knowledge there are no reports of late-onset HCLS being missed by NBS. Also we report two cases, each with novel pathogenic variants HCLS, diagnosed at age 3 years and 21 months respectively. The first patient had a normal newborn screen whilst the second had an abnormal newborn screen but was misdiagnosed as 3-methylcrotonylcarboxylase (3-MCC deficiency and subsequently lost to follow-up until they presented again with severe metabolic acidosis.

  10. Viral load in children with congenital cytomegalovirus infection identified on newborn hearing screening.

    Science.gov (United States)

    Kawada, Jun-ichi; Torii, Yuka; Kawano, Yoshihiko; Suzuki, Michio; Kamiya, Yasuko; Kotani, Tomomi; Kikkawa, Fumitaka; Kimura, Hiroshi; Ito, Yoshinori

    2015-04-01

    Congenital cytomegalovirus (CMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL) in children. However, congenital SNHL without other clinical abnormalities is rarely diagnosed as CMV-related in early infancy. The aim of this study was to identify and treat patients with congenital CMV-related SNHL or CMV-related clinical abnormalities other than SNHL. The association between CMV load and SNHL was also evaluated. Newborns who had abnormal hearing screening results or other clinical abnormalities were screened for congenital CMV infection by PCR of saliva or urine specimens, and identified infected patients were treated with valganciclovir (VGCV) for 6 weeks. The CMV load of patients with or without SNHL was compared at regular intervals during as well as after VGCV treatment. Of 127 infants with abnormal hearing screening results, and 31 infants with other clinical abnormalities, CMV infection was identified in 6 and 3 infants, respectively. After VGCV treatment, 1 case had improved hearing but the other 5 SNHL cases had little or no improvement. Among these 9 patients with or without SNHL at 1 year of age, there was no significant difference in CMV blood or urine load at diagnosis, but both were significantly higher in patients with SNHL during VGCV treatment. Selective CMV screening of newborns having an abnormal hearing screening result would be a reasonable strategy for identification of symptomatic congenital CMV infection. Prolonged detection of CMV in blood could be a risk factor for SNHL. Copyright © 2015 Elsevier B.V. All rights reserved.

  11. Imitation in Newborn Infants: Exploring the Range of Gestures Imitated and the Underlying Mechanisms.

    Science.gov (United States)

    Meltzoff, Andrew N.; Moore, M. Keith

    1989-01-01

    Evaluated psychological mechanisms underlying imitation of facial actions in 40 newborn infants. Results showed imitation of head movement and a tongue-protrusion gesture. Subjects imitated from memory after displays had stopped. (RJC)

  12. Newborn infants' sensitivity to perceptual cues to lexical and grammatical words.

    Science.gov (United States)

    Shi, R; Werker, J F; Morgan, J L

    1999-09-30

    In our study newborn infants were presented with lists of lexical and grammatical words prepared from natural maternal speech. The results show that newborns are able to categorically discriminate these sets of words based on a constellation of perceptual cues that distinguish them. This general ability to detect and categorically discriminate sets of words on the basis of multiple acoustic and phonological cues may provide a perceptual base that can help older infants bootstrap into the acquisition of grammatical categories and syntactic structure.

  13. Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.

    Science.gov (United States)

    Somaschini, Marco; Presi, Silvia; Ferrari, Maurizio; Vergani, Barbara; Carrera, Paola

    2017-12-19

    Genetic surfactant dysfunction causes respiratory failure in term and near-term newborn infants, but little is known of such condition in prematures. We evaluated genetic surfactant dysfunction in premature newborn infants with severe RDS. A total of 68 preterm newborn infants with gestational age ≤32 weeks affected by unusually severe RDS were analysed for mutations in SFTPB, SFTPC and ABCA3. Therapies included oxygen supplementation, nasal CPAP, different modalities of ventilatory support, administration of exogenous surfactant, inhaled nitric oxide and steroids. Molecular analyses were performed on genomic DNA extracted from peripheral blood and Sanger sequencing of whole gene coding regions and intron junctions. In one case histology and electron microscopy on lung tissue was performed. Heterozygous previously described rare or novel variants in surfactant proteins genes ABCA3, SFTPB and SFTPC were identified in 24 newborn infants. In total, 11 infants died at age of 2 to 6 months. Ultrastructural analysis of lung tissue of one infant showed features suggesting ABCA3 dysfunction. Rare or novel genetic variants in genes encoding surfactant proteins were identified in a large proportion (35%) of premature newborn infants with particularly severe RDS. We speculate that interaction of developmental immaturity of surfactant production in association with abnormalities of surfactant metabolism of genetic origin may have a synergic worsening phenotypic effect.

  14. Maternal knowledge and attitudes to universal newborn hearing screening: Reviewing an established program.

    Science.gov (United States)

    Lam, Maggie Yee Yan; Wong, Eddie Chi Ming; Law, Chi Wai; Lee, Helena Hui Ling; McPherson, Bradley

    2018-02-01

    To facilitate early diagnosis of infants with hearing loss, a universal newborn hearing screening program (UNHS) has been implemented in Hong Kong's public hospitals for over a decade. However, there have been no known studies investigating parent attitudes to, and satisfaction with, UNHS since its launch in Hong Kong. The present study aimed to investigate knowledge of UNHS as well as infant hearing development, and attitudes and satisfaction with UNHS, in Hong Kong mothers with newborns. The study was designed to help evaluate and improve an established UNHS public hospital program, based on the perspectives of service users. A researcher-developed questionnaire was administered to 102 mothers whose newborn had received UNHS in the postnatal wards of a large public hospital in Hong Kong. The questionnaire considered parental knowledge of UNHS and infant hearing development, attitudes and satisfaction toward public hospital UNHS. In the knowledge dimension, parents' preferred time and location for pre-test information delivery, interpretation of screening results, and knowledge of hearing developmental milestones were surveyed. In addition, maternal attitudes to and satisfaction with UNHS screening services, the potential impact of UNHS on parent emotions and parent-baby bonding, attitudes toward informed consent, and willingness to comply with diagnostic assessment referral were also be surveyed. Mean participant scores on knowledge of infant hearing development were relatively low (M = 2.59/6.0, SD = 0.90). Many mothers also underestimated the potential ongoing risks of hearing impairment in babies. Around 80% of mothers thought an infant could not have hearing impairment after passing the screening. In addition, one-third of mothers thought a baby could not later develop hearing impairment in infancy or childhood. In terms of attitudes and satisfaction, participants gave somewhat negative ratings for questions regarding receiving sufficient information

  15. Congenital cytomegalovirus infection: disease burden and screening tools : towards newborn screening

    OpenAIRE

    Vries, Jutte Jacoba Catharina de

    2012-01-01

    Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature of the hearing loss, up to half of the children with congenital CMV-related hearing loss may not be detected in the newborn hearing screening. This thesis addresses several aspects of congenital CM...

  16. Iatrogenic Skin Disorders and Related Factors in Newborn Infants.

    Science.gov (United States)

    Csoma, Zsanett Renáta; Meszes, Angéla; Ábrahám, Rita; Kemény, Lajos; Tálosi, Gyula; Doró, Péter

    2016-09-01

    Recent technological advances and diagnostic and therapeutic innovations have resulted in an impressive improvement in the survival of newborn infants requiring intensive care. Consequently, with the use of modern invasive diagnostic and therapeutic procedures, the incidence of iatrogenic events has also increased. The aim of this study was to assess various iatrogenic complications in neonates requiring intensive care and determine possible contributing factors to the injuries. Our prospective cross-sectional cohort survey was conducted in a central regional level III neonatal intensive care unit (NICU). Correlations between intensive therapeutic interventions, complications, factors influencing attendance and prognosis, and the prevalence of iatrogenic skin injuries (ISIs) were investigated over a 2-year study period. Between January 31, 2012, and January 31, 2014, 460 neonates were admitted to the NICU, 83 of whom exhibited some kind of ISI. The major risk factors for ISIs were low birthweight, young gestational age, long NICU stay, use of the intubation-surfactant-extubation (INSURE) technique, surfactant use, mechanical ventilation, insertion of an umbilical arterial catheter, circulatory and cardiac support with dopamine or dobutamine, pulmonary hemorrhage, intracranial hemorrhage, patent ductus arteriosus, bronchopulmonary dysplasia, and positive microbiology culture results. To prevent ISIs, careful consideration of risk factors and the creation of protocols ensuring efficient treatment of injuries are needed. © 2016 Wiley Periodicals, Inc.

  17. [Endoscopic treatment of intestinal malrotation in newborns and infants].

    Science.gov (United States)

    Kozlov, Yu A; Novozhilov, V A; Rasputin, A A; Us, G P; Kuznetsova, N N; Pakelchuk, A

    To compare treatment of intestinal malrotation in newborns and infants using laparoscopy and laparotomy. For the period from January 2004 to December 2013 34 Ladd's procedures were performed. Children were divided into 2 groups by 17 patients: laparoscopic (group I) and open treatment (group II). Both groups had similar demographic and other preoperative parameters. There were significant differences in duration of operation between both groups (61 vs. 70 minutes). Nutrition was initiated earlier after mini-invasive treatment (1.5 days vs. 3 days) and the time need for full enteral nutrition was also less (4.2 days vs. 6.9 days). Hospital-stay was shorter in group I (7.7 vs. 10.2 days). Number of early postoperative complications was similar in groups. Incidence of remote complications was higher in laparotomy group but the differences were not significant. Our results showed that endoscopic correction of congenital anomalies of intestinal rotation provides better postoperative results than open surgery and can be widely used in young children.

  18. Diabetic mothers and their newborn infants - rooming-in and neonatal morbidity

    DEFF Research Database (Denmark)

    Stage, E; Mathiesen, E R; Emmersen, P B

    2010-01-01

    As a result of increased neonatal morbidity, the infants of diabetic mothers have routinely been admitted to a neonatal special care unit (NSCU). We therefore investigated whether the offer of rooming-in diabetic mothers and their newborn infants has an effect on neonatal morbidity....

  19. Continuous intravenous infusion of ampicillin and gentamicin during parenteral nutrition in 88 newborn infants

    DEFF Research Database (Denmark)

    Colding, H; Møller, S; Andersen, G E

    1982-01-01

    Ampicillin and gentamicin were dissolved once a day in an L-amino acid solution especially prepared for parenteral nutrition of newborn infants and infused continuously to 88 infants in whom septicaemia was suspected or had been proved. The mean dosages were 162 and 5.3 mg/kg per 24 hours...

  20. Biobank participant support of newborn screening for disorders with variable treatment and intervention options.

    Science.gov (United States)

    Bunnell, Megan E; Tarini, Beth A; Petros, Michael; Goldenberg, Aaron J; Arjunan, Aishwarya; Wicklund, Catherine

    2016-10-01

    We aimed to better understand biobank participant opinions of the benefits of newborn screening (NBS) for certain disorder types and how terminology used in NBS discourse might impact stakeholder opinion. We conducted a between-subjects randomized survey of 5840 members of the Northwestern University Biobank. The survey contained 12 scenarios, each describing a disorder and its treatment. For each scenario, we varied the terminology used to describe treatment options. One survey version used the term intervention and the other treatment. The outcome measured for each scenario was perceived benefit (for the infant) and importance of testing (for participants). Comparisons were made between participants and between scenarios. Ratings of benefit and importance were not influenced by the use of the term intervention versus treatment within scenarios. Nuances existed in ratings of benefit to the infant and importance to participants amongst scenarios. Participants were most likely to perceive benefit and importance in screening for a disorder if treatment/intervention offered a high chance of improved outcomes. While participants perceived benefit to the infant and importance to themselves in screening for most disorders, nuances in inter-scenario ratings suggest participants weighed availability and type of treatment/intervention in consideration of the benefits of NBS.

  1. 90Sr in the skeleton of new-born children and infants

    International Nuclear Information System (INIS)

    Borisov, B.K.

    1980-01-01

    The correlation between 90 Sr content in the skeleton of new-born children and infants and 90 Sr content in the vertebrae spongy tissue of mother, is studied in different countries from 1965 to 1973. The highest indexes of 90 Sr concentration in the bone tissue of new-born children are found to be characteristic of Canada and Norway. The minimum 90 Sr content is observed in Japan. The dynamics of indexes which characterize 90 Sr content in the bone tissue of infants is presented. The peculiarities are conditioned by particular nutrition of an infant nursing and cow milk used as additional food

  2. Psychological effects of false-positive results in expanded newborn screening in China.

    Directory of Open Access Journals (Sweden)

    Wen-Jun Tu

    Full Text Available OBJECTIVES: As more families participate expanded newborn screening for metabolic disorders in China, the overall number of false positives increases. Our goal was to assess the potential impact on parental stress, perceptions of the child's health, and family relationships. METHODS: Parents of 49 infants with false-positive screening results for metabolic disorders in the expanded newborn screening panel were compared with parents of 42 children with normal screening results. Parents first completed structured interview using likert scales, closed and open questions. Parents also completed the parenting stress index. RESULTS: A total of 88 mothers and 41 fathers were interviewed. More mothers in the false-positive group reported that their children required extra parental care (21%, compared with 5% of mothers in the normal-screened group (P<0.001. 39% of mothers in the false-positive group reported that they worry about their child's future development, compared with 10% of mothers in the normal-screened group (P<0.001. Fathers in the false-positive group did not differ from fathers in the normal-screened group in reporting worry about their child's extra care requirements, and their child's future development. Children with false-positive results compared with children with normal results were triple as likely to experience hospitalization (27%vs 9%, respectively; P<0.001. CONCLUSIONS: The results showing false-positive screening results may affect parental stress and the parent-child relationship. Parental stress and anxiety can be reduced with improved education and communication to parents about false-positive results.

  3. Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations

    Directory of Open Access Journals (Sweden)

    Katherine G. Langley

    2016-11-01

    Full Text Available The practice of newborn screening has been in place in the USA since the 1960s, with individual states initially screening for different numbers of disorders. In the early 2000s many efforts were made to standardize the various disorders being screened. Currently, there are at least 34 disorders that each state is mandated to include on their screening panel. Of those 34 disorders, the majority are inborn errors of metabolism (IEM which include urea cycle disorders (UCD, citrullinemia (CIT and argininosuccinic aciduria (ASA, as well as a number of fatty acid oxidation disorders. We present here four cases of infants who had critical newborn screens (NBS in the Commonwealth of Virginia and underwent genetic testing because their clinical presentation and follow-up laboratory studies were not consistent with the disorder that was flagged by NBS. These newborns were found to be carriers for two different IEMs (in three cases or compound heterozygotes (in one case. Currently no guidelines exist with respect to the appropriate way to manage these children who may or may not be symptomatic in the newborn period. We propose some general recommendations for management based on our experience with these four probands, and discuss the necessity for further conversation and collaboration between physicians encountering these not-so-infrequent presentations.

  4. Newborn Screening in the Era of Precision Medicine.

    Science.gov (United States)

    Yang, Lan; Chen, Jiajia; Shen, Bairong

    2017-01-01

    As newborn screening success stories gained general confirmation during the past 50 years, scientists quickly discovered diagnostic tests for a host of genetic disorders that could be treated at birth. Outstanding progress in sequencing technologies over the last two decades has made it possible to comprehensively profile newborn screening (NBS) and identify clinically relevant genomic alterations. With the rapid developments in whole-genome sequencing (WGS) and whole-exome sequencing (WES) recently, we can detect newborns at the genomic level and be able to direct the appropriate diagnosis to the different individuals at the appropriate time, which is also encompassed in the concept of precision medicine. Besides, we can develop novel interventions directed at the molecular characteristics of genetic diseases in newborns. The implementation of genomics in NBS programs would provide an effective premise for the identification of the majority of genetic aberrations and primarily help in accurate guidance in treatment and better prediction. However, there are some debate correlated with the widespread application of genome sequencing in NBS due to some major concerns such as clinical analysis, result interpretation, storage of sequencing data, and communication of clinically relevant mutations to pediatricians and parents, along with the ethical, legal, and social implications (so-called ELSI). This review is focused on these critical issues and concerns about the expanding role of genomics in NBS for precision medicine. If WGS or WES is to be incorporated into NBS practice, considerations about these challenges should be carefully regarded and tackled properly to adapt the requirement of genome sequencing in the era of precision medicine.

  5. RBC Antibody Screen

    Science.gov (United States)

    ... C Cystic Fibrosis (CF) Gene Mutations Testing Cytomegalovirus (CMV) Tests D-dimer Dengue Fever Testing Des-gamma- ... Index of Screening Recommendations Not Listed? Not Listed? Newborn Screening Screening Tests for Infants Screening Tests for ...

  6. Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening

    DEFF Research Database (Denmark)

    Lund, Allan Meldgaard; Hougaard, David Michael; Simonsen, Henrik

    2012-01-01

    Expanded newborn screening for selected inborn errors of metabolism (IEM) in Denmark, the Faroe Islands and Greenland was introduced in 2002. We now present clinical, biochemical, and statistical results of expanded screening (excluding PKU) of 504,049 newborns during nine years as well as diagno......Expanded newborn screening for selected inborn errors of metabolism (IEM) in Denmark, the Faroe Islands and Greenland was introduced in 2002. We now present clinical, biochemical, and statistical results of expanded screening (excluding PKU) of 504,049 newborns during nine years as well...... as a pilot study during the first seven years, and the experience obtained during these years was used in the development of the routine neonatal screening program introduced in 2009. Methods for screening included tandem mass spectrometry and an assay for determination of biotinidase activity. A total...

  7. Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future

    Directory of Open Access Journals (Sweden)

    Jovanka King

    2017-08-01

    Full Text Available Primary immunodeficiency diseases (PID are a heterogeneous group of disorders caused by inborn errors of immunity, with affected children presenting with severe, recurrent or unusual infections. Over 300 distinct genetic molecular abnormalities resulting in PID have been identified, and this number continues to rise. Newborn screening for PID has been established in many countries, with the majority of centers using a PCR-based T cell receptor excision circle (TREC assay to screen for severe combined immunodeficiency (SCID and other forms of T cell lymphopenia. Multiplexed screening including quantitation of kappa-recombining exclusion circles (KREC has also been described, offering advantages over TREC screening alone. Screening technologies are also expanding to include protein-based assays to identify complement deficiencies and granulocyte disorders. Given the rapid advances in genomic medicine, a potential future direction is the application of next-generation sequencing (NGS technologies to screen infants for a panel of genetic mutations, which would enable identification of a wide range of diseases. However, several ethical and economic issues must be considered before moving towards this screening strategy.

  8. False negative newborn screen and neonatal cholestasis in a premature child with cystic fibrosis

    NARCIS (Netherlands)

    Heidendael, J. F.; Tabbers, M. M.; de Vreede, I.

    2014-01-01

    Newborn screening for cystic fibrosis enables early diagnosis and treatment, leading to better outcomes for patients with cystic fibrosis. Although the sensitivity of several screening protocols is high, false negative screening results of the newborn patient still occur, which can lead to a

  9. Maintaining trust in newborn screening: compliance and informed consent in the Netherlands.

    NARCIS (Netherlands)

    Burg, S. van der; Verweij, M.

    2012-01-01

    Newborn screening consists of taking a few drops of blood from a baby's heel in the first week of life and testing it for a list of disorders. In the United States and most countries in Europe, newborn screening programs began in the 1960s and 1970s with screening for phenylketonuria (PKU), a rare

  10. Newborn screening for congenital hypothyroidism in Henan province, China.

    Science.gov (United States)

    Zhao, De-Hua; Shen, Yong; Gong, Jiao-Mei; Meng, Yun; Su, Li; Zhang, Xia

    2016-01-15

    Congenital hypothyroidism is the most common congenital endocrine disorder. The study aimed to determine the congenital hypothyroidism incidence by newborn screening programs in Henan Province, China. The screening programs for congenital hypothyroidism are based on the measurement of TSH in dried blood spots. The TSH concentration was measured in the dry blood spot specimen using a DELFIA fluoroimmunoassay. The TSH cutoff concentration was 8mU/l. The total coverage and the incidence of congenital hypothyroidism were 24.85% (5,142,148/20,694,441) and 0.37‰ (1992/5,142,148), respectively. The coverage and the incidence of CH were only 0.58% (4526/784,580) and 0.22‰ (1/4526) in 1997, respectively. However, the coverage and the incidence of CH were increased to 74.67% (1,203,278/1,611,582) and 0.32‰ (389/1,203,278). There were no significant differences in the number of congenital hypothyroidism between males and females (P>0.05). The number of congenital hypothyroidism was increased year after year. The newborn screening program for CH is successful and quite effective. Copyright © 2015 Elsevier B.V. All rights reserved.

  11. Susceptibility of pregnant women to toxoplasma infection--potential benefits for newborn screening.

    LENUS (Irish Health Repository)

    Ferguson, W

    2008-08-20

    Congenital toxoplasmosis (CT) arises as a result of new acquisition of Toxoplasma infection by a susceptible woman during pregnancy. Early detection of CT through neonatal screening programmes could optimize management and improve infant outcome. This study sought to estimate the prevalence of Toxoplasma susceptibility in pregnant women. As detection of Toxoplasma antibodies in neonatal blood reflects maternal exposure history, maternal antibody seroprevalence was determined using anonymized residual blood from newborn screening cards. A total of 20,252 cards were tested in 1 year. 4,991 (24.6%) cards tested positive for Toxoplasma antibody. Results were stratified by county. Toxoplasma antibody seroprevalence rates of 25% indicated that Toxoplasma infection is common in Ireland and that up to 75% of women remain susceptible to primary infection during pregnancy. This study aimed to a) determine the seroprevalence of Toxoplasma antibody in pregnant women, and hence b) estimate the risk for acquisition of primary toxoplasmosis in pregnancy in order to support an application to fund a pilot newborn screening programme.

  12. Incidence of severe combined immunodeficiency through newborn screening in a Chinese population

    Directory of Open Access Journals (Sweden)

    Yin-Hsiu Chien

    2015-01-01

    Conclusion: Newborn screening to measure the number of TREC copies successfully identifies newborns with T-cell lymphopenia, 22q11.2 microdeletion syndrome, and other high-risk conditions. Taken together, the incidence of T-cell lymphopenia in apparently healthy newborns is more than 1 in 11,821, and further attention to their immune functions is warranted.

  13. T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication

    Directory of Open Access Journals (Sweden)

    Xavier Rios

    2017-07-01

    Full Text Available Newborn screening for severe combined immunodeficiency has proven successful in identifying infants with T-cell deficiencies before they become severely ill. Additionally, the newborn screen can detect subtle early phenotypes that may become severe later in life. We present the case of siblings with features suggestive of T-cell lymphopenia identified as having low T-cell receptor excision circles counts by newborn screening. Expanded immune testing showed robust lymphocyte mitogen and antigen responses with normal vaccine responses and immunoglobulin levels for both boys over time. Genetic analysis revealed an Xq13.1 duplication in each child not found in the mother. The variant is downstream of the IL2RG gene with potential regulatory significance, suggesting a mechanism for the T-cell lymphopenia. The newborn screen provided these patients heightened surveillance and patient-specific management, including delayed live vaccines and Pneumocystis jiroveci pneumonia prophylaxis. Fortunately, the brothers have not suffered invasive or opportunistic infections and are well at ages 3 and 4 years. In this report, we illustrate the challenges of managing seemingly asymptomatic immunodeficient patients without a definitive genetic diagnosis and show how unbiased genetic analysis can expand understanding about primary immunodeficiency phenotypes.

  14. Newborn Screening for Severe Combined Immunodeficiency in Israel

    Directory of Open Access Journals (Sweden)

    Erez Rechavi

    2017-06-01

    Full Text Available Newborn screening (NBS programs for severe combined immunodeficiency (SCID, the most severe type of primary immunodeficiency, are being implemented in more and more countries with every passing year. Since October 2015, SCID screening via T cell receptor excision circle (TREC quantification in dried blood spots (DBS has been part of the Israeli NBS program. As an NBS program in its infancy, SCID screening is still evolving, making gathering input from the various programs crucial for compiling an ideal screening algorithm. The relatively high rate of consanguineous marriages in Israel, especially among non-Jews, correlates with an increased incidence of SCID. The Israeli algorithm uses a commercial kit and consists of a two-Guthrie card confirmation system prior to referral to a national immunology center. Preliminary data from the first year and a half of SCID screening in Israel has identified a surprisingly high prevalence of DNA cross-link repair protein 1c (DCLRE1C; ARTEMIS mutations as the cause of SCID in Israel. The clinically unbiased nature of SCID screening helps unearth mild/leaky SCID phenotypes, resulting in a better understanding of true SCID prevalence and etiology.

  15. Radio-immuno-assay for trypsin in newborn-screening for cystic fibrosis

    International Nuclear Information System (INIS)

    Sander, J.; Niehaus, C.

    1982-01-01

    In 4,956 infants the concentration of immunoreactive trypsin was measured in dried blood on filter paper using a double antibody radioimmuno assay. About 90% of all results were below 40 ng/ml. In 13 infants the concentration of immunoreactive trypsin exceeded 80 ng/ml. These infants were examined clinically, including sweationtophoresis. We found three children suffering from cystic fibrosis. One further child showing an elevated concentration of chloride in the sweat (60 mval/ml) could not be reexamined. The concentration of immunoreactive trypsin in the cystic fibrosis children was 230, 297, and in one case 108 ng/ml at the 76th day of life, whereas the values for the 9 other children were between 80 and 154 ng/ml. We believe these results justify to use this test for a much higher number of infants, especially because it is inexpensive and can easily be added to existing newborn screening programs for inborn errors of metabolism. (orig.) [de

  16. Etiology and one-year follow-up results of hearing loss identified by screening of newborn hearing in Japan.

    Science.gov (United States)

    Adachi, Nodoka; Ito, Ken; Sakata, Hideaki; Yamasoba, Tatsuya

    2010-07-01

    To evaluate the incidence of newborn hearing loss in a Japanese population and to elucidate etiological factors and one-year prognosis. Screening of newborn hearing. Children's tertiary referral center. Between 1999 and 2008, 101,912 newborn infants were screened, with 693 infants (0.68%) referred. Etiology investigation included CT, detection of cytomegalovirus (CMV) DNA, and connexin 26 mutation. Abnormal results (auditory brainstem response [ABR] threshold > or = 35 normal hearing level [dB nHL] in either side) were observed in 312 infants (0.31%), and 133 subjects (0.13%) with ABR thresholds > or = 50 dB nHL on both sides were classified into the habilitation group. In this group, inner ear/internal auditory meatus anomalies were detected in 20 of 121 subjects (17%) tested, middle/external ear anomalies in 14 of 121 subjects (12%), CMV DNA in 13 of 77 subjects (17%), and connexin 26 mutation in 28 of 89 subjects (31%). In 68 subjects undergoing all three investigations (CT, CMV, and connexin 26), 41 (60%) had positive results in at least one test. With inclusion of otitis media with effusion and perinatal problems, this rate amounted to 78% (53 subjects). Of the 97 infants in the habilitation group successfully followed up to one year, 36 (37%) showed a threshold change of 20 dB or more in either ear: 11 (11%) progression and 25 (26%) improvement, and 15 infants (15%) were reclassified into a less severe classification. Considering that 26 percent of infants with bilateral moderate to severe hearing loss showed improvement in one year, habilitation protocols, especially very early cochlear implantation within one year of birth, should be reconsidered. 2010 American Academy of Otolaryngology-Head and Neck Surgery Foundation. Published by Mosby, Inc. All rights reserved.

  17. Newborn blood spot screening for sickle cell disease by using tandem mass spectrometry: implementation of a protocol to identify only the disease states of sickle cell disease.

    Science.gov (United States)

    Moat, Stuart J; Rees, Derek; King, Lawrence; Ifederu, Adeboye; Harvey, Katie; Hall, Kate; Lloyd, Geoff; Morrell, Christine; Hillier, Sharon

    2014-02-01

    The currently recommended technologies of HPLC and isoelectric focusing for newborn blood spot screening for sickle cell disease (SCD) identify both the disease and carrier states, resulting in large numbers of infants being followed up unnecessarily. Analysis of blood spot tryptic peptides performed by using tandem mass spectrometry (MS/MS) is an alternative technology to detect hemoglobin (Hb) variant disorders. We analyzed 2154 residual newborn blood spots and 675 newborn blood spots from infants with Hb variants by using MS/MS after trypsin digestion. Screening cutoffs were developed by using the ratio between the variant peptide-to-wild-type peptide abundance for HbS, C, D(Punjab), O(Arab), Lepore, and E peptides. A postanalytical data analysis protocol was developed using these cutoffs to detect only the disease states of SCD and not to identify carrier states. A parallel study of 13 249 newborn blood spots from a high-prevalence SCD area were analyzed by both MS/MS and HPLC. Screening cutoffs developed distinguished the infants with the disease states of SCD, infants who were carriers of SCD, and infants with normal Hb. In the parallel study no false-negative results were identified, and all clinically relevant cases were correctly identified using the MS/MS protocol. Unblinding the data revealed a total of 328 carrier infants that were successfully excluded by the protocol. The screening protocol developed correctly identified infants with the disease states of SCD. Furthermore, large numbers of sickle cell carrier infants were successfully not identified, thereby avoiding unnecessary follow-up testing and referral for genetic counseling.

  18. Screening for C3 deficiency in newborns using microarrays.

    Directory of Open Access Journals (Sweden)

    Magdalena Janzi

    Full Text Available BACKGROUND: Dried blood spot samples (DBSS from newborns are widely used in neonatal screening for selected metabolic diseases and diagnostic possibilities for additional disorders are continuously being evaluated. Primary immunodeficiency disorders comprise a group of more than one hundred diseases, several of which are fatal early in life. Yet, a majority of the patients are not diagnosed due to lack of high-throughput screening methods. METHODOLOGY/PRINCIPAL FINDINGS: We have previously developed a system using reverse phase protein microarrays for analysis of IgA levels in serum samples. In this study, we extended the applicability of the method to include determination of complement component C3 levels in eluates from DBSS collected at birth. Normal levels of C3 were readily detected in 269 DBSS from healthy newborns, while no C3 was detected in sera and DBSS from C3 deficient patients. CONCLUSIONS/SIGNIFICANCE: The findings suggest that patients with deficiencies of specific serum proteins can be identified by analysis of DBSS using reverse phase protein microarrays.

  19. Screening Tool for Early Postnatal Prediction of Retinopathy of Prematurity in Preterm Newborns (STEP-ROP).

    Science.gov (United States)

    Ricard, Caroline A; Dammann, Christiane E L; Dammann, Olaf

    2017-01-01

    Retinopathy of prematurity (ROP) is a disorder of the preterm newborn characterized by neurovascular disruption in the immature retina that may cause visual impairment and blindness. To develop a clinical screening tool for early postnatal prediction of ROP in preterm newborns based on risk information available within the first 48 h of postnatal life. Using data submitted to the Vermont Oxford Network (VON) between 1995 and 2015, we created logistic regression models based on infants born <28 completed weeks gestational age. We developed a model with 60% of the data and identified birth weight, gestational age, respiratory distress syndrome, non-Hispanic ethnicity, and multiple gestation as predictors of ROP. We tested the model in the remaining 40%, performed tenfold cross-validation, and tested the score in ELGAN study data. Of the 1,052 newborns in the VON database, 627 recorded an ROP status. Forty percent had no ROP, 40% had mild ROP (stages 1 and 2), and 20% had severe ROP (stages 3-5). We created a weighted score to predict any ROP based on the multivariable regression model. A cutoff score of 5 had the best sensitivity (95%, 95% CI 93-97), while maintaining a strong positive predictive value (63%, 95% CI 57-68). When applied to the ELGAN data, sensitivity was lower (72%, 95% CI 69-75), but PPV was higher (80%, 95% CI 77-83). STEP-ROP is a promising screening tool. It is easy to calculate, does not rely on extensive postnatal data collection, and can be calculated early after birth. Early ROP screening may help physicians limit patient exposure to additional risk factors, and may be useful for risk stratification in clinical trials aimed at reducing ROP. © 2017 S. Karger AG, Basel.

  20. Assessing the Fragile X Syndrome Newborn Screening Landscape.

    Science.gov (United States)

    Riley, Catharine; Wheeler, Anne

    2017-06-01

    Fragile X syndrome (FXS) is the most common known inherited form of intellectual disability. Early identification is an important step in linking FXS individuals with appropriate and timely medical and social services. Newborn screening (NBS) is 1 approach that has been used for other conditions to facilitate early identification. A literature review was conducted to identify issues, barriers, challenges, and approaches to addressing challenges related to NBS for FXS. Search terms included: fragile X syndrome, FMR1, newborn screening, screening, and genetic testing. To supplement the literature review, 9 key informant interviews were conducted. Information gathered through these interviews supplemented what was identified in the literature. Information from both the literature review and supplemental interviews was reviewed by 3 researchers who discussed and came to consensus on thematic areas and categorization of issues. The barriers and challenges related to NBS for FXS identified in the literature and by experts and stakeholders are categorized into 5 thematic areas: public health burden, treatment, timing, screening/testing methodologies, and translating results. Summaries of these issues and barriers are provided, along with potential approaches to addressing them. The issues and barriers described in this article highlight limited areas of knowledge that need be addressed to improve our understanding of FXS and the potential benefit of NBS. The landscape of NBS for FXS could be influenced by a series of research findings over time or a larger breakthrough that demonstrates an effective targeted treatment that has to be implemented early in life. Copyright © 2017 by the American Academy of Pediatrics.

  1. Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.

    Science.gov (United States)

    Alfadhel, Majid; Al Othaim, Ali; Al Saif, Saif; Al Mutairi, Fuad; Alsayed, Moeenaldeen; Rahbeeni, Zuhair; Alzaidan, Hamad; Alowain, Mohammed; Al-Hassnan, Zuhair; Saeedi, Mohamad; Aljohery, Saeed; Alasmari, Ali; Faqeih, Eissa; Alwakeel, Mansour; AlMashary, Maher; Almohameed, Sulaiman; Alzahrani, Mohammed; Migdad, Abeer; Al-Dirbashi, Osama Y; Rashed, Mohamed; Alamoudi, Mohamed; Jacob, Minnie; Alahaidib, Lujane; El-Badaoui, Fahd; Saadallah, Amal; Alsulaiman, Ayman; Eyaid, Wafaa; Al-Odaib, Ali

    2017-06-01

    To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders. Heel prick dry blood spot samples were obtained from all newborns for biochemical and immunoassay testing. Recall screening testing was performed for Initial positive results and confirmed by specific biochemical assays. A total of 743 cases were identified giving an overall incidence of 1:1043. Frequently detected disorders nationwide were congenital hypothyroidism and congenital adrenal hyperplasia with an incidence of 1:7175 and 1:7908 correspondingly. The highest incidence among the IEM was propionic acidaemia with an incidence rate of 1:14 000. The article highlights the experience of the NBS Program in Saudi Arabia and providing data on specific regional incidences of all the screened disorders included in the programme; and showed that the incidence of these disorders is one of the highest reported so far world-wide. © 2017 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

  2. Burst-suppression pattern in the electroencephalogram of newborns and infants. Its clinical expression

    Directory of Open Access Journals (Sweden)

    Cervantes Blanco Jorge Mauricio

    2014-07-01

    Full Text Available Burst-suppression pattern in the electroencephalogram (EEG is associated with severe brain damage and has a bad prognosis in 85% of the cases. Objectives. To identify the prevalence of the EEG burst-suppression pattern (BSP in fullterm newborns and infants, determine its etiol- ogy, clinical features and course. Methods. A retrospective study was conducted. Between January 2008 and December 2012, 4,891 EEGs were reviewed. The EEGs of newborns and infants (< 3 months of age with BSP were selected. Results. 11 cases identified with burst suppression pattern. The overall prevalence of which was 3.5%; 8.1% among the newborns and 1.2% among infants. Seizures were the main reason for doing an EEG in the newborn period in 7 patients and after day 28 in three. The clinical manifestations were abnormal level of consciousness (n=8, hypotonia (n=2, and spasticity (n=6. The main causes were hypoxic ischemic injury, stroke and kernicterus. There were two cases of early infantile epileptic encephalopathy. Two patients died before the third month of age; 8 survived an average of 13 months. All had epilepsy, neurologic retardation and disability. Two patients had persistent EEG burst-suppression pattern; 1 and 3 months after the neonatal period respectively; 7 had focal spikes and an asymmetric pattern. Conclusions. Electroencephalographic burst-suppression pat- tern predicts a severe neurologic injury in fullterm newborns and infants.

  3. Hyperinsulinism associated with gestational exposure to bupropion in a newborn infant.

    Science.gov (United States)

    Gisslen, Tate; Nathan, Brandon; Thompson, Theodore; Rao, Raghavendra

    2011-01-01

    This case report describes severe hyperinsulinism in a term newborn infant without typical perinatal risk factors for transient hyperinsulinism. The mother had received bupropion, an antidepressant and aid to smoking cessation, throughout pregnancy. The infant presented with profound hypoglycemia and seizures on the 3rd day of life. Laboratory investigation confirmed hyperinsulinism. Stable euglycemia could be achieved only after starting diazoxide. The infant was weaned from diazoxide by 10 weeks of age without recurrence of hypoglycemia, signifying the transient nature of hyperinsulinism. This is the first reported case of a potential association between maternal bupropion use during pregnancy and neonatal hyperinsulinism, and highlights the importance of close monitoring of similar infants.

  4. Interrelationships between maternal carotenoid status and newborn infant macular pigment optical density and carotenoid status.

    Science.gov (United States)

    Henriksen, Bradley S; Chan, Gary; Hoffman, Robert O; Sharifzadeh, Mohsen; Ermakov, Igor V; Gellermann, Werner; Bernstein, Paul S

    2013-08-15

    Deposition of the macular pigment carotenoids lutein and zeaxanthin in the human retina occurs early in life. In this study, we examined the interrelationships of maternal carotenoid status and newborn infant macular pigment levels and systemic carotenoid status. As a secondary measure, we also evaluated the effects of intrauterine growth restriction (IUGR) on carotenoid status in term newborn infants. We measured mother and infant skin carotenoids using resonance Raman spectroscopy (RRS), serum carotenoids by HPLC, and mother breast milk carotenoids by HPLC. We measured infant macular pigment levels using noninvasive blue light reflectometry. We enrolled 30 healthy term infants, their mothers, and 10 IUGR infants and their mothers. A subset of 16 infants was imaged for macular pigment optical density (MPOD). Infant serum zeaxanthin levels correlated with MPOD (r = 0.68, P = 0.007). Mother serum zeaxanthin levels correlated with infant MPOD (r = 0.59, P = 0.032). Infant and mother serum lutein did not correlate with MPOD. Mother-infant correlations were found for total serum carotenoids (r = 0.42, P = 0.020) and skin carotenoids (r = 0.48, P = 0.001). No difference was seen between IUGR infants and controls in total serum or skin carotenoids. Mothers of IUGR infants had lower total serum carotenoids (P = 0.019) and breast milk carotenoids than controls (P = 0.006). Our findings suggest that maternal zeaxanthin status may play a more important role than lutein status in macular pigment deposition in utero. Controlled trials are needed to determine whether maternal zeaxanthin prenatal supplementation can raise infant macular pigment levels and/or improve ocular function.

  5. The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

    Science.gov (United States)

    Diekman, Eugene; de Sain-van der Velden, Monique; Waterham, Hans; Kluijtmans, Leo; Schielen, Peter; van Veen, Evert Ben; Ferdinandusse, Sacha; Wijburg, Frits; Visser, Gepke

    2016-01-01

    To improve the efficacy of newborn screening (NBS) for very long chain acyl-CoA dehydrogenase deficiency (VLCADD). Data on all dried blood spots collected by the Dutch NBS from October 2007 to 2010 (742.728) were included. Based solely on the C14:1 levels (cutoff ≥0.8 μmol/L), six newborns with VLCADD had been identified through NBS during this period. The ratio of C14:1 over C2 was calculated. DNA of all blood spots with a C14:1/C2 ratio of ≥0.020 was isolated and sequenced. Children homozygous or compound heterozygous for mutations in the ACADVL gene were traced back and invited for detailed clinical, biochemical, and genetic evaluation. Retrospective analysis based on the C14:1/C2 ratio with a cutoff of ≥0.020 identified an additional five children with known ACADVL mutations and low enzymatic activity. All were still asymptomatic at the time of diagnosis (age 2-5 years). Increasing the cutoff to ≥0.023 resulted in a sensitivity of 93% and a positive predictive value of 37%. The sensitivity of the previously used screening approach (C14:1 ≥0.8) was 50%. This study shows that the ratio C14:1/C2 is a more sensitive marker than C14:1 for identifying VLCADD patients in NBS. However, as these patients were all asymptomatic at the time of diagnosis, this suggests that a more sensitive screening approach may also identify individuals who may never develop clinical disease. Long-term follow-up studies are needed to establish the risk of these VLCADD-deficient individuals for developing clinical signs and symptoms.

  6. Fostering caring relationships: Suggestions to rethink liberal perspectives on the ethics of newborn screening

    NARCIS (Netherlands)

    Burg, S. van der; Oerlemans, A.J.M.

    2018-01-01

    Newborn screening (NBS) involves the collection of blood from the heel of a newborn baby and testing it for a list of rare and inheritable disorders. New biochemical screening technologies led to expansions of NBS programs in the first decade of the 21st century. It is expected that they will in

  7. Newborn jaundice

    Science.gov (United States)

    Jaundice of the newborn; Neonatal hyperbilirubinemia; Bili lights - jaundice; Infant - yellow skin; Newborn - yellow skin ... newborns have some yellowing of the skin, or jaundice. This is called physiological jaundice. It is often ...

  8. Current insights in brain protection for the sick newborn infant

    OpenAIRE

    KOOI E.M.W.

    2015-01-01

    This paper presents an overview of the modern antenatal and postnatal strategies in brain protection for both preterm and term born infants. It is known, that the two most common causes of neonatal brain injury are prematurity and hypoxic-ischemic encephalopathy (HIE) in the term born infant. Approximately one in nine babies is born before term. Nowadays these preterm born infants more often survive the neonatal period due to developments in treatment options in the last decades. They are how...

  9. Improving regional universal newborn hearing screening programmes in Italy.

    Science.gov (United States)

    Molini, E; Cristi, M C; Lapenna, R; Calzolaro, L; Muzzi, E; Ciciriello, E; Della Volpe, A; Orzan, E; Ricci, G

    2016-02-01

    The Universal Newborn Hearing Screening (UNHS) programme aims at achieving early detection of hearing impairment. Subsequent diagnosis and intervention should follow promptly. Within the framework of the Ministry of Health project CCM 2013 "Preventing Communication Disorders: a Regional Program for early Identification, Intervention and Care of Hearing Impaired Children", the limitations and strengths of current UNHS programs in Italy have been analysed by a group of professionals working in tertiary centres involved in regional UNHS programmes, using SWOT analysis and a subsequent TOWS matrix. Coverage and lost-to-follow up rates are issues related to UNHS programmes. Recommendations to improve the effectiveness of the UNHS programme have been identified. The need for homogeneous policies, high-quality information and dissemination of knowledge for operators and families of hearing-impaired children emerged from the discussion. © Copyright by Società Italiana di Otorinolaringologia e Chirurgia Cervico-Facciale.

  10. Weight loss and low age are associated with intensity of rooting behaviours in newborn infants.

    Science.gov (United States)

    Takahashi, Yuki; Jonas, Wibke; Ransjö-Arvidson, Anna-Berit; Lidfors, Lena; Uvnäs Moberg, Kerstin; Nissen, Eva

    2015-10-01

    Little is known about the developing breastfeeding behaviour of newborn infants. This study describes infants' prebreastfeeding behaviour during the second day of life and explores possible associations with infant characteristics. We studied 13 mothers and healthy full-term infants after normal births. At 24-48 hours of life, the newborns were placed in skin-to-skin contact with their mothers for breastfeeding and were video-filmed. The order, frequency and duration of predefined infant prefeeding behaviours and suckling were coded and analysed using computer-based video software. Prefeeding behaviours occurred in the following order: rooting, hand to mouth movements, licking of the nipple and hand to breast to mouth movements. The infants started to suckle at a median of one to two minutes. Rooting was the most common behaviour, observed in 12 infants. The duration of rooting movements during the last minute before breastfeeding was inversely related to neonatal age (p ≤ 0.001) and positively related to neonatal weight loss (p = 0.02) after birth. Infants exhibited a distinct sequence of prefeeding behaviours during the second day of life, and our findings suggest that rooting movements were governed by mechanisms involved in the regulation of food intake and weight gain. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  11. Newborn screening by tandem mass spectrometry: ethical and social issues.

    Science.gov (United States)

    Avard, Denise; Vallance, Hilary; Greenberg, Cheryl; Potter, Beth

    2007-01-01

    Emerging technologies like Tandem Mass Spectrometry (TMS) enable multiple tests on a single blood sample and allow the expansion of Newborn Screening (NBS) to include various metabolic diseases. Introducing TMS for NBS raises important social and ethical questions: what are the criteria for adding disorders to screening panels? What evidence justifies expansion of screening? How can equity in NBS access and standards be ensured? How can policy standards be set, given the multiplicity of stakeholders? To address emerging issues, policy-makers, patient advocates, clinicians and researchers had a workshop during the 2005 Garrod Symposium. The participants received a summary of the discussion and understood the workshop's goal was to provide a basis for further discussion. This article contributes to this ongoing discussion. Several proposed recommendations assert the centrality of including social and ethical issues in the assessment of whether or not to introduce TMS. The article outlines five key recommendations for advancing the NBS agenda: national public health leadership; transparency; increased national consistency in NBS strategy, including minimum standards; collaboration between the federal and provincial/territorial governments and diverse stakeholders; and supporting research and/or programs based on effectiveness, which integrate ethical and social issues into assessment.

  12. Understanding Midwives’ Preferences for Providing Information About Newborn Bloodspot Screening

    Directory of Open Access Journals (Sweden)

    Stuart James Wright

    2018-01-01

    Full Text Available Background: Understanding preferences for information provision in the context of health care service provision is challenging because of the number of potential attributes that may influence preferences. This study aimed to identify midwives’ preferences for the process and outcomes of information provision in an expanded national newborn bloodspot screening program. Design: A sample of practicing midwives completed a hybrid-stated preference survey including a conjoint analysis (CA and discrete choice experiment to quantify preferences for the types of, and way in which, information should be provided in a newborn bloodspot screening program. Six conjoint analysis questions captured the impact of different types of information on parents’ ability to make a decision, and 10 discrete choice experiment questions identified preferences for four process attributes (including parents’ ability to make a decision. Results: Midwives employed by the UK National Health Service (n = 134 completed the survey. All types of information content were perceived to improve parents’ ability to make a decision except for the possibility of false-positive results. Late pregnancy was seen to be the best time to provide information, followed by day 3 postbirth. Information before 20 weeks of pregnancy was viewed as reducing parents’ ability to make a decision. Midwives preferred information to be provided by an individual discussion and did not think parents should receive information on the Internet. Conclusion: A hybrid stated preference survey design identified that a wide variety of information should be provided to maximize parents’ ability to make a decision ideally provided late in pregnancy or on day 3 postbirth.

  13. Multiple versus single lumen umbilical venous catheters for newborn infants.

    Science.gov (United States)

    Kabra, N S; Kumar, M; Shah, S S

    2005-07-20

    Multiple lumen umbilical venous catheters (ML-UVCs) instead of single lumen UVCs (SL-UVCs) may decrease the need for additional venous lines. Although it seems self-evident that ML-UVCs would reduce the need of additional venous lines, the rates of associated complications might be different. To compare the effectiveness and the safety of ML-UVCs versus SL-UVCs in terms of need of additional vascular access, rates of complications, morbidity and mortality in newborn infants. Randomized and quasi-randomized trials were identified by searching the MEDLINE (1966 - February 2005), EMBASE (1980- February 2005), CINAHL (1982 - February 2005), the Cochrane Central Register of Controlled Trials (CENTRAL, The Cochrane Library, Issue 4, 2004) and Science Direct (subject area: medicine, journal and abstract database; 1967 to February 2005). Literature search also included a manual search of the abstracts of scientific meetings published in Pediatric Research (1990-2004). Additional citations were sought using references in articles retrieved from searches. Subject experts were contacted to identify the unpublished and ongoing studies. Randomized and quasi-randomized controlled clinical trials comparing safety and efficacy of multiple versus single lumen umbilical venous catheter in neonates (both term and preterm) who were in need of umbilical venous catheter insertion for vascular access in first four weeks of life. Each review author performed data extraction independently and differences were resolved by discussion. The following outcomes were determined: total number of additional peripheral intravenous lines per baby in first week and first four weeks of life, total number of additional percutaneously and surgically placed central venous lines per baby in first four weeks of life, and other safety and efficacy measures. The treatment effect estimators used were RR, RD, and WMD when appropriate along with their 95% CI. If RD was statistically significant, then number

  14. ABR-based newborn hearing screening with MB11 BERAphone® using an optimized chirp for acoustical stimulation.

    Science.gov (United States)

    Cebulla, Mario; Shehata-Dieler, Wafaa

    2012-04-01

    At our center, the Maico MB11 BERAphone(®) device is used for newborn hearing screening based on Auditory Brainstem Responses (ABR). In 2006, an optimized chirp stimulus was implemented in the device to increase the reliability and quality of the screening method. In 2002, an automated response detection algorithm had been implemented. This study analyzes the screening results using the MB11 BERAphone(®) device with the implemented chirp stimulus and automated response detection method. The data presented were collected in the well-baby nursery as part of the newborn hearing screening program following a two stage screening protocol. To focus the study on the typical routine screening, data from at-risk babies were not included. Overall, data from 6866 babies (3604 males and 3262 females) screened from March 2006 to April 2011 were analyzed in this study. Out of the 6866 babies screened, 6607 passed bilaterally prior to hospital discharge (defined as 1st stage in this hearing screening program). Therefore, the pre-discharge pass rate of the hearing screening with the MB11 BERAphone(®) device was 96.2%. The resulting referral rate was 3.8%. The median test time per ear (excluding time for preparation and data reporting) was 28s with a range of 15-112s (5-95th percentile). The number of infants referred for 2nd stage, post-discharge re-screening was 259. Of this group, 71 passed bilaterally and 188 failed the re-screening in one or both ears. Therefore, including both the pre-discharge and post-discharge screening results, the bilateral pass rate was 97.3% and 2.7% were referred for diagnostic evaluation. Diagnostic testing was performed on all of the 188 infants who were referred. Results showed that 47 of these babies had hearing loss. This equates to a positive predictive value for a refer result of 25%. The observed prevalence of hearing impairment in our population was 0.684%. Diagnostic results for 141 of the referred newborns proved that they had normal

  15. The added value of simultaneous EEG and amplitude-integrated EEG recordings in three newborn infants

    NARCIS (Netherlands)

    de Vries, Nathalie K. S.; ter Horst, Hendrik J.; Bos, Arend F.

    2007-01-01

    Amplitude-integrated electroencephalograms (aEEGs) recorded by cerebral function monitors (CFMs) are used increasingly to monitor the cerebral activity of newborn infants with encephalopathy. Recently, new CFM devices became available which also reveal the original EEG signals from the same leads.

  16. Newborn Irritability Moderates the Association between Infant Attachment Security and Toddler Exploration and Sociability

    Science.gov (United States)

    Stupica, Brandi; Sherman, Laura J.; Cassidy, Jude

    2011-01-01

    This longitudinal investigation of 84 infants examined whether the effect of 12-month attachment on 18- and 24-month exploration and sociability with unfamiliar adults varied as a function of newborn irritability. As expected, results revealed an interaction between attachment (secure vs. insecure) and irritability (highly irritable vs. moderately…

  17. Decreased cerebral blood flow after administration of sodium bicarbonate in the distressed newborn infant

    DEFF Research Database (Denmark)

    Lou, H C; Lassen, N A; Fris-Hansen, B

    1978-01-01

    with 1 to 8 meqs of sodium bicarbonate in seven distressed newborn infants. The 133 Xe clearance technique was used. The results showed in six of the seven cases a decrease in cerebral blood flow, which in most cases was reduced to 14 to 22 ml/100 g/min, which is about half the value prior...

  18. 3-D cardiac MRI in free-breathing newborns and infants: when is respiratory gating necessary?

    Energy Technology Data Exchange (ETDEWEB)

    Seeger, Achim [University Hospital of Tuebingen, Department of Diagnostic and Interventional Radiology, Tuebingen (Germany); University Hospital of Tuebingen, Department of Diagnostic and Interventional Neuroradiology, Tuebingen (Germany); Krumm, Patrick; Schaefer, Juergen F.; Kramer, Ulrich [University Hospital of Tuebingen, Department of Diagnostic and Interventional Radiology, Tuebingen (Germany); Hornung, Andreas; Sieverding, Ludger [University Hospital of Tuebingen, Department of Pediatric Cardiology, Tuebingen (Germany)

    2015-09-15

    Newborns and small infants have shallow breathing. To suggest criteria for when respiratory gating is necessary during cardiac MRI in newborns and infants. One-hundred ten data sets of newborns and infants with (n = 92, mean age: 1.9 ± 1.7 [SD] years) and without (n = 18, mean age: 1.6 ± 1.8 [SD] years) navigator gating were analysed retrospectively. The respiratory motion of the right hemidiaphragm was recorded and correlated to age, weight, body surface area and qualitative image quality on a 4-point score. Quantitative image quality assessment was performed (sharpness of the delineation of the ventricular septal wall) as well as a matched-pair comparison between navigator-gated and non-gated data sets. No significant differences were found in overall image quality or in the sharpness of the ventricular septal wall between gated and non-gated scans. A navigator acceptance of >80% was frequently found in patients ages <12 months, body surface area <0.40 m{sup 2}, body weight <10 kg and a size of <80 cm. Sequences without respiratory gating may be used in newborns and small infants, in particular if age <12 months, body surface area <0.40 m{sup 2}, body weight <10 kg and height <80 cm. (orig.)

  19. Administration of gentamicin and ampicillin by continuous intravenous infusion to newborn infants during parenteral nutrition

    DEFF Research Database (Denmark)

    Colding, H; Andersen, G E

    1982-01-01

    Gentamicin and ampicillin were dissolved in an L-amino acid solution especially prepared for newborn infants and infused intravenously over 24 h in 7 babies with serious neonatal surgical problems. Serum concentrations of the antibiotics were maintained rather constant and well above the minimal ...

  20. Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants

    NARCIS (Netherlands)

    Albersen, Monique; Groenendaal, Floris; van der Ham, Maria; de Koning, Tom J; Bosma, Marjolein; Visser, Wouter F; Visser, Gepke; de Sain-van der Velden, Monique G M; Verhoeven-Duif, Nanda M

    BACKGROUND AND OBJECTIVE: Vitamin B(6) plays a pivotal role in brain development and functioning. Differences in vitamin B(6) homeostasis between preterm and term newborn infants have been reported. The authors sought to investigate whether B(6) vitamers in cerebrospinal fluid (CSF) of preterm and

  1. Reliability of the echoMRI infant system for water and fat measurements in newborns

    Science.gov (United States)

    The precision and accuracy of a quantitative magnetic resonance (EchoMRI Infants) system in newborns were determined. Canola oil and drinking water phantoms (increments of 10 g to 1.9 kg) were scanned four times. Instrument reproducibility was assessed from three scans (within 10 minutes) in 42 heal...

  2. Decreased cerebral blood flow after administration of sodium bicarbonate in the distressed newborn infant

    DEFF Research Database (Denmark)

    Lou, H C; Lassen, N A; Fris-Hansen, B

    1978-01-01

    In the course of our studies on cerebral blood flow in newborn infants, we have observed a striking depressing effect of sodium bicarbonate infusion on cerebral blood flow which in some cases may severely aggravate cerebral ischemia. We measured cerebral blood flow before and after the treatment...... with 1 to 8 meqs of sodium bicarbonate in seven distressed newborn infants. The 133 Xe clearance technique was used. The results showed in six of the seven cases a decrease in cerebral blood flow, which in most cases was reduced to 14 to 22 ml/100 g/min, which is about half the value prior...... to the bicarbonate infusion. In one case an extreme reduction occurred: cerebral blood flow was reduced to 3 ml/100 g/min, well below the level compatible with tissue survival. The results are discussed with regard to the optimal treatment of the acidotic newborn....

  3. Newborn screening for congenital hypothyroidism in a public sector hospital

    International Nuclear Information System (INIS)

    Ghafoor, F.; Mohsin, S.N.; Mukhtar, S.; Hussain, W.

    2013-01-01

    Background: Congenital hypothyroidism if left untreated results in growth failure, irreversible mental retardation, and cretinism. National neonatal screening programs are therefore, launched to diagnose congenital hypothyroidism and manage it timely. Objectives: To screen new borns for congenital hypothyroidism in two public sector hospitals of Lahore. Study type, settings and duration:Cross sectional descriptive study conducted at departments of Gynae/Obs and Pediatric Shaikh Zayed Hospital and Jinnah Hospital, Lahore from February 2010 to November 2011. Subjects and Methods: Awareness brochures for congenital hypothyroidism were developed and attached with the antenatal card of each pregnant case attending antenatal clinic at Gynae/Obs OPD. Newborns who had stayed in hospital for more than 24 hour, and whose parents consented for heal prick were tested for blood spot thyroid-stimulating hormone. Results were reported within four days and thyroid-stimulating hormone >= 20mIU/L was taken as high value. Parents of those neonates who had high value were contacted to give a fresh sample for confirmation. Confirmed results were provided within next 4-5 days to the parents and treating pediatrician for appropriate treatment. Results: A total of 1357 samples were screened using blood spot thyroid-stimulating hormone and out of these 1330 were normal ( =20mIU/L). These 27 neonates were further tested using confirmatory tests For serum thyroid-stimulating hormone, T3 and T4. After confirmatory tests only one case had congenital hypothyroidism who was referred for treatment. Three cases were suspected to have subclinical hypothyroidism and these were retested after six months which, picked another case of confirmed subclinical hypothyroidism who was referred for treatment. The incidence of congenital hypothyroidism was 2 out of 1357 cases. Conclusion: The screening could pick 2 cases of hypothyroidism from a total of 1357 cases which is high when compared to global rates

  4. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.

    Science.gov (United States)

    Lu, Yung-Hsiu; Huang, Po-Hsun; Wang, Li-Yun; Hsu, Ting-Rong; Li, Hsing-Yuan; Lee, Pi-Chang; Hsieh, Yu-Ping; Hung, Sheng-Che; Wang, Yu-Chen; Chang, Sheng-Kai; Lee, Ya-Ting; Ho, Ping-Hsun; Ho, Hui-Chen; Niu, Dau-Ming

    2018-01-01

    Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team's aim was to develop an improved cost-effective screening method that is able to detect Fabry disease among female newborns. In Taiwan, based on a database of 916,000 newborns, ~98% of Fabry patients carry mutations out of a pool of only 21 pathogenic mutations. An Agena iPLEX platform was designed to detect these 21 pathogenic mutations using only a single-assay panel. A total of 54,791 female infants were screened and 136 female newborns with the IVS4 + 919G > A mutation and one female newborn with the c.656T > C mutation were identified. Using the current enzyme-based newborn screening approach as baseline, around 83% of female newborns are being missed. Through a family study of the IVS4 female newborns, 30 IVS4 adult family members were found to have left ventricular hypertrophy. Ten patients received endomyocardial biopsy and all were found to have significant globotriaosylceramide (Gb3) accumulation in their cardiomyocytes. All of these individuals now receive enzyme replacement therapy. We have demonstrated that the Agena iPLEX assay is a powerful tool for detecting females with Fabry disease. Furthermore, through this screening, we also have been able to identify many disease-onset adult family members who were originally undiagnosed for Fabry disease. This screening helps them to receive treatment in time before severe and irreversible cardiac damage has occurred.

  5. [Palliative care for newborn infants with congenital malformations or genetic abnormalities].

    Science.gov (United States)

    Viallard, M-L; Moriette, G

    2017-02-01

    The choice of palliative care can be made today in the perinatal period, as it can be made in children and adults. Palliative care, rather than curative treatment, may be considered in three clinical situations: babies born at the limits of viability, withholding/withdrawing treatments in the NICU, and babies with severe malformations of genetic abnormalities identified during pregnancy. Only the last situation is addressed hereafter. In newborn infants as in older patients, palliative care aims at taking care of the baby and at providing comfort and well-being. The presence of human beings by the newborn infant, most importantly the parents and family, is of utmost importance. The available time should not be used only for care and medical treatments. Sufficient time should be kept for the parents to interact with the baby and for human presence and warmth. The best interests of the newborn infant are the main element for guiding appropriate care. Before birth, the choice of palliative care for newborn infants requires successive steps: (1) establishing a diagnosis of malformation(s) or genetic abnormalities; (2) making a prognosis and ruling out intensive treatments at birth and thereafter; (3) giving the parents appropriate information; (4) assisting the pregnant woman in deciding to continue pregnancy while excluding intensive treatment of the newborn baby; (5) dialoguing with parents about the expected duration of the baby's life and the related uncertainty; (6) planning of palliative care to be implemented at birth; (7) preparing a plan with the parents for discharging the infant from the hospital and for taking care of him over a long time, when it is deemed possible that the baby may live for more than a few days. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  6. Analysis of MicroRNA Expression in Newborns with Differential Birth Weight Using Newborn Screening Cards

    Directory of Open Access Journals (Sweden)

    Patricia Rodil-Garcia

    2017-11-01

    Full Text Available Birth weight is an early predictor for metabolic diseases and microRNAs (miRNAs are proposed as fetal programming participants. To evaluate the use of dried blood spots (DBS on newborn screening cards (NSC as a source of analyzable miRNAs, we optimized a commercial protocol to recover total miRNA from normal birth weight (NBW, n = 17–20, low birth weight (LBW, n = 17–20 and high birth weight (macrosomia, n = 17–20 newborns and analyzed the relative expression of selected miRNAs by stem-loop RT-qPCR. The possible role of miRNAs on the fetal programming of metabolic diseases was explored by bioinformatic tools. The optimized extraction of RNA resulted in a 1.2-fold enrichment of miRNAs respect to the commercial kit. miR-33b and miR-375 were overexpressed in macrosomia 9.8-fold (p < 0.001 and 1.7-fold, (p < 0.05, respectively and miR-454-3p was overexpressed in both LBW and macrosomia (19.7-fold, p < 0.001 and 10.8-fold, p < 0.001, respectively, as compared to NBW. Potential target genes for these miRNAs are associated to cyclic-guanosine monophosphate (cGMP-dependent protein kinase (PKG, mitogen-activated protein kinase (MAPK, type 2 diabetes, transforming growth factor-β (TGF-βand Forkhead box O protein (FoxO pathways. In summary, we improved a protocol for analyzing miRNAs from NSC and provide the first evidence that birth weight modifies the expression of miRNAs associated to adult metabolic dysfunctions. Our work suggests archived NSC are an invaluable resource in the search for fetal programming biomarkers.

  7. Screening for secondary hyperparathyroidism in preterm infants.

    Science.gov (United States)

    Dowa, Yuri; Kawai, Masahiko; Kanazawa, Hoshinori; Iwanaga, Kougoro; Matsukura, Takashi; Heike, Toshio

    2016-10-01

    The major cause of osteopathy of prematurity is dietary phosphate deficiency, but secondary hyperparathyroidism caused by calcium deficiency or vitamin D deficiency is also important. Because parathyroid hormone (PTH) mobilizes calcium and phosphate from the bone, hyperparathyroidism worsens osteopathy of prematurity. In order to identify useful markers to screen for and diagnose hyperparathyroidism in preterm infants, we measured serum and urinary biochemical markers. Several biomarkers, including serum intact PTH (iPTH), were measured in urine and serum samples obtained from 95 preterm infants, and the relationship between serum iPTH and the other parameters was analyzed. Mean gestation was 33.2 ± 2.9 weeks, and mean birthweight was 1705 ± 402 g. Samples were collected around postnatal day 17.3 ± 7.4. Fourteen infants (14.7%) had iPTH >65 pg/mL. Cut-offs for serum alkaline phosphatase (ALP) and percent tubular reabsorption rate of phosphate (%TRP) were fixed at 1300 IU/L and 93%, respectively using receiver operating characteristic curves with iPTH cut-off of 65 pg/mL. Serum ALP was proven to be a good marker: ALP had a sensitivity of 78.6% and a specificity of 86.4%, while %TRP itself was not: %TRP had a sensitivity of 64.3% and a specificity of 58.0%. Combined measurement of serum ALP (>1300 IU/L) and %TRP (≤93%), however, had a specificity of 93.8% for detecting elevated iPTH. Measurement of serum ALP (>1300 IU/L) is considered as an effective screening method to detect hyperparathyroidism. In addition, combined assessment of ALP(>1300 IU/L) and %TRP(≤93%) is a good indicator of elevated iPTH in preterm infants. © 2016 Japan Pediatric Society.

  8. CDC’s Newborn Screening Program - Role of Laboratories

    Centers for Disease Control (CDC) Podcasts

    When newborn screening started in the U.S. 50 years ago, many questioned whether it was even possible to test every baby born in every state. Today, all states screen babies for at least 29 disorders that can be detected through laboratory testing. In this podcast, Dr. Carla Cuthbert talks about CDC’s Newborn Screening Quality Assurance Program and the role laboratories play in keeping babies healthy.

  9. Screening for congenital dislocation of the hip in the newborn: The role of clinical, ultrasonographic and radiographic examination

    International Nuclear Information System (INIS)

    Dunn, P.M.

    1987-01-01

    The concept of examining all young infants for congenital dislocation of the hip (CDH) dates back to Le Damany in 1914, though it was Ortolani who stimulated widespread clinical screening with the publication of his method of examination in 1948. His technique was improved by Barlow and others and is now often referred to as the Ortolani/Barlow manoeuvre. Meanwhile, following the method of Hilgenreiner, Putti advocated in 1933 radiological screening of all newborn hips. In 1958 Andren and Von Rosen described their new radiological technique in which hip subluxation was provoked prior to x-ray. Although radiological examination has been criticised as a screening method, it is still apparently widely used in Europe, especially in German-speaking countries. More recently dynamic sonographic examination of the hips has been used for neonatal screening

  10. Expanded newborn screening by mass spectrometry: New tests, future perspectives.

    Science.gov (United States)

    Ombrone, Daniela; Giocaliere, Elisa; Forni, Giulia; Malvagia, Sabrina; la Marca, Giancarlo

    2016-01-01

    Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical chemistry and has shown to be particularly sensitive and specific when used in newborn screening (NBS) tests. The success of tandem mass spectrometry is due to important advances in hardware, software and clinical applications during the last 25 years. MS/MS permits a very rapid measurement of many metabolites in different biological specimens by using filter paper spots or directly on biological fluids. Its use in NBS give us the chance to identify possible treatable metabolic disorders even when asymptomatic and the benefits gained by this type of screening is now recognized worldwide. Today the use of MS/MS for second-tier tests and confirmatory testing is promising especially in the early detection of new disorders such as some lysosomal storage disorders, ADA and PNP SCIDs, X-adrenoleucodistrophy (X-ALD), Wilson disease, guanidinoacetate methyltransferase deficiency (GAMT), and Duchenne muscular dystrophy. The new challenge for the future will be reducing the false positive rate by using second-tier tests, avoiding false negative results by using new specific biomarkers and introducing new treatable disorders in NBS programs. © 2015 Wiley Periodicals, Inc.

  11. INTESTINAL COLIC IN NEWBORNS AND INFANTS: FROM DIAGNOSTICS TO THE DIFFERENTIATED CORRECTION

    Directory of Open Access Journals (Sweden)

    I.A. Belyaeva

    2011-01-01

    Full Text Available Functional disorders of digestion are the most widespread disturbances of adaptation in infants. The article presents classification of colic in newborns and infants, characterizes their etiology and pathogenesis depending on maturity of a child, presence of perinatal pathology, defects of nursing and nutrition. Authors describe main principles of intestinal colic correction including diet and medicamental treatment in infants. «Mild» drugs (herbal therapy have some advantages in treatment of colic. The results of an observation of 47 mature and premature infants treated with Plantex are presented.Key words: infants, intestinal colics, dietotherapy, herbal therapy.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (2: 137–140

  12. Newborn hearing screening with transient evoked otoacoustic emissions and automatic auditory brainstem response

    OpenAIRE

    Renata Mota Mamede de Carvallo; Carla Gentile Matas; Isabela de Souza Jardim

    2008-01-01

    Objective: The aim of the present investigation was to check Transient Evoked Otoacoustic Emissions and Automatic Auditory Brainstem Response tests applied together in regular nurseries and Newborn Intensive Care Units (NICU), as well as to describe and compare the results obtained in both groups. Methods: We tested 150 newborns from regular nurseries and 70 from NICU. Rresults: The newborn hearing screening results using Transient Evoked Otoacoustic Emissions and Automatic Auditory Brainstem...

  13. Abnormal TREC-Based Newborn Screening Test in a Premature Neonate with Massive Perivillous Fibrin Deposition of the Placenta

    Directory of Open Access Journals (Sweden)

    Stefan Kostadinov

    2016-01-01

    Full Text Available Severe combined immunodeficiency (SCID, a primary immunodeficiency arising from variable defects in lymphocyte development and survival, is characterized by significant deficiency of thymus derived (T- lymphocytes and variable defects in the B-lymphocyte population. Newborn screening for SCID is based on detection of low numbers of T-cell receptor excision circles (TRECs by real time quantitative PCR (RT-qPCR. This screening allows for early identification of individuals with SCID and other disorders characterized by T-lymphopenia. Higher rates of abnormal screens are commonly seen in premature and critically ill neonates, often representing false positives. It is possible that many abnormal screens seen in these populations are result of conditions that are characterized by systemic inflammation or stress, possibly in the context of stress-induced thymic involution. We present a case of a male infant delivered at 27 weeks, 6 days of gestation, with severe intrauterine growth restriction who had an abnormal TREC screen and a massive perivillous fibrin deposition (MPFD of the placenta. This association has not been reported previously. We are raising the awareness to the fact that conditions, such as MPFD, that can create adverse intrauterine environment are capable of causing severe stress-induced thymic involution of the fetus which can present with abnormal TREC results on newborn screening.

  14. Pulmonary circulatory effects of norepinephrine in newborn infants with persistent pulmonary hypertension.

    Science.gov (United States)

    Tourneux, Pierre; Rakza, Thameur; Bouissou, Antoine; Krim, Gérard; Storme, Laurent

    2008-09-01

    To evaluate the respiratory and the pulmonary circulatory effects of norepinephrine in newborn infants with persistent pulmonary hypertension (PPHN)-induced cardiac dysfunction. Inclusion criteria were: 1) Newborn infants >35 weeks gestational age; 2) PPHN treated with inhaled nitric oxide; and 3) symptoms of circulatory failure despite adequate fluid resuscitation. Lung function and pulmonary hemodynamic variables assessed with Doppler echocardiography were recorded prospectively before and after starting norepinephrine. Eighteen newborns were included (gestational age: 37 +/- 3 weeks; birth weight: 2800 +/- 700 g). After starting norepinephrine, systemic pressure and left ventricular output increased respectively from 33 +/- 4 mm Hg to 49 +/- 4 mm Hg and from 172 +/- 79 mL/kg/min to 209+/-90 mL/kg/min (P ventilatory variables have not been changed, the post-ductal transcutaneous arterial oxygen saturation increased from 89% +/- 1% to 95% +/- 4%, whereas the oxygen need decreased from 51% +/- 24% to 41% +/- 20% (P newborn infants with PPHN through a decrease in pulmonary/systemic artery pressure ratio and improved cardiac performance.

  15. [The newborn infant of a mother with tuberculosis].

    Science.gov (United States)

    Pedicino, R; Bressan, K; Bedetta, M

    2010-06-01

    TBC is a major infectious emergency in the world. OMS suggest that there are 8 millions of affected every year and 2 millions of deaths. Italy is considered a country with low prevalence, but the increase of the immigration from Africa Asia and Est Europa (country with high risk) imposes attention to the problem. The delivery is a critical moment to investigate people at risk of disease. The infection of the newborn can happen intrauterine or in the expulsive period, but is possible also at home, from somebody affected by an active pulmonary disease. Diagnosis in the newborn is not easy for the aspecificity of clinical signs and for the frequent initial negativeness of Mantoux test. Culture of placenta, gastric aspirate, tracheal secretions, urine would be requested, cerebrospinal fluid if necessary. Neonatal disease needs therapy with isoniazide, rifampicine, pirazinamide and, or ethambutol, or streptomycin. Profilaxis of a newborn from a woman affected by an active form of tuberculosis or living with people affected by an active pulmonary form consists in giving isoniazide until diagnostic tests are negative and in removing the sicks (only with pulmonary disease). New dangerous kinds of pharmacological multiresistent tuberculosis are appeared in the last years in the world and, with the coinfection HIV-TBC and the reorganization of the surveillance system, represents the major obligation for the next years.

  16. [A new method of investigation of "child's" behavior (infant-mother attachment) of newborn rats].

    Science.gov (United States)

    Stovolosov, I S; Dubynin, V A; Kamenskiĭ, A A

    2010-01-01

    A new method of studying "child's" (maternal bonding) behavior of newborn rats was developed. The efficiency of the method was proved in estimation of dopaminergic control of the infant-mother attachment. Selective D2-antagonist clebopride applied in subthreshold for motor activity doses caused a decrease in aspiration of pups to be in contact with a dam. On the basis of features analyzed (latent periods and expression of various behavioral components), the integrated criterion for the estimation of "child's" reactions was suggested. Application of this criterion made it possible to neutralize high individual variability of the behavior typical of newborns.

  17. Newborn hearing screening vs later hearing screening and developmental outcomes in children with permanent childhood hearing impairment

    NARCIS (Netherlands)

    Korver, Anna M. H.; Konings, Saskia; Dekker, Friedo W.; Beers, Mieke; Wever, Capi C.; Frijns, Johan H. M.; Oudesluys-Murphy, Anne M.; de Vries, Jutte; Vossen, Ann; Kant, Sarina; van den Akker-van Marle, Elske; le Cessie, Saskia; Rieffe, Carolien; Ens-Dokkum, Martina; van Straaten, Irma; Uilenburg, Noelle; Elvers, Bert; Loeber, Gerard; Meuwese-Jongejeugd, Anneke; Maré, Marcel; van Zanten, Bert; Goedegebure, André; Coster, Francien; van Dijk, Pim; Goverts, Theo; Admiraal, Ronald; Cremers, Cor; Kunst, Dirk; de Leeuw, Marina; Dijkhuizen, Janette; Scharloo, Marleen; Hoeben, Dirk; Rijpma, Gerti; Graef, Wim; Linschoten, Dik; Kuijper, Jessica; Hof, Nanda; Koldewijn, Reinoud; Pans, Donné; Jorritsma, Frank; van Beurden, Maarten; ter Huurne, Christien; Brienesse, Patrick; Seekles, Lisanne; de Jong, Jantine; Thijssen, Andrea; Lievense, Andrea; van Egdom-van der Wind, Marina; Theunissen, Stephanie; Mooij, Sophie

    2010-01-01

    Newborn hearing screening programs have been implemented in many countries because it was thought that the earlier permanent childhood hearing impairment is detected, the less developmentally disadvantaged children would become. To date, however, no strong evidence exists for universal introduction

  18. Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State.

    Science.gov (United States)

    Ding, Yao; Thompson, John D; Kobrynski, Lisa; Ojodu, Jelili; Zarbalian, Guisou; Grosse, Scott D

    2016-05-01

    To evaluate the expected cost-effectiveness and net benefit of the recent implementation of newborn screening (NBS) for severe combined immunodeficiency (SCID) in Washington State. We constructed a decision analysis model to estimate the costs and benefits of NBS in an annual birth cohort of 86 600 infants based on projections of avoided infant deaths. Point estimates and ranges for input variables, including the birth prevalence of SCID, proportion detected asymptomatically without screening through family history, screening test characteristics, survival rates, and costs of screening, diagnosis, and treatment were derived from published estimates, expert opinion, and the Washington NBS program. We estimated treatment costs stratified by age of identification and SCID type (with or without adenosine deaminase deficiency). Economic benefit was estimated using values of $4.2 and $9.0 million per death averted. We performed sensitivity analyses to evaluate the influence of key variables on the incremental cost-effectiveness ratio (ICER) of net direct cost per life-year saved. Our model predicts an additional 1.19 newborn infants with SCID detected preclinically through screening, in addition to those who would have been detected early through family history, and 0.40 deaths averted annually. Our base-case model suggests an ICER of $35 311 per life-year saved, and a benefit-cost ratio of either 5.31 or 2.71. Sensitivity analyses found ICER values <$100 000 and positive net benefit for plausible assumptions on all variables. Our model suggests that NBS for SCID in Washington is likely to be cost-effective and to show positive net economic benefit. Published by Elsevier Inc.

  19. [Prognostication of immunological reactivity and the choice of the variant of reflexotherapy for a newborn infant].

    Science.gov (United States)

    Filonenko, A V; Sergeeva, A I; Filonenko, V A

    2014-01-01

    The objective of the present study was to determine the classification differences in immunological reactivity and to identify its predictors in the newborn infants. The study involved 115 full-term newborn infants presenting with grade 3 prenatal hypoxic ischemic encephalopathy in the late neonatal period. The features of immunological reactivity under the influence of acupuncture were examined. Statistical processing was carried out by means of discriminant analysis. The assessment and prediction of the effectiveness of acupuncture in the neonates suffering from cerebral ischemia are based on the index of immunological reactivity and the leukocyte index of intoxication, as well as on the ratio of monocytes to band neutrophils content. For generation of the group classifier of immunological predictors in a newborn infant and development of indications for reflex therapy, nine parameters of interest were measured. The group specificity of the child was determined by three variables, viz. leukocyte index of intoxication, monocyte and band neutrophil counts with values of the Fisher's exact test (F) and reliability (Wilks Lambda 0.90894; approximation F (3.144) = 4.809; p newborn infants and the choice of the treatment modality on an individual basis (parent, child, or both) in the "mother-newborn" system. The variant of treatment was determined by comparing the values of the results of the formulas. The newborns were referred to the subgroup with the highest value of the classification function. The predictors made it possible to reliably distinguished the second (p = 0.032) and the third (p = 0.022) subgroups from the first one, with some degree of overlapping between the edge zones of centroids of the second and third subgroups (p = 0.073). Therefore, the sensitivity of classification in the individual subgroups was lower than in the group model and was estimated at 34.4, 71.9, and 65.6% for the first, second and third groups, respectively. The mathematical models

  20. The Dried Bloodspot: Newborn Screening Research Saving the Lives of Babies

    Science.gov (United States)

    Levy-Fisch, Jill; Gartzke, Micki; Leight, Kelly

    2010-01-01

    Newborn screening is a test done on every child born in the US shortly after birth to detect diseases where, if not diagnosed and treated in the newborn period, the child will suffer significant trauma, disability or die. A few drops of blood from each baby's heel is put on a card and sent to the state's public health lab for testing. Most states…

  1. Diode laser spectroscopy for noninvasive monitoring of oxygen in the lungs of newborn infants.

    Science.gov (United States)

    Svanberg, Emilie Krite; Lundin, Patrik; Larsson, Marcus; Åkeson, Jonas; Svanberg, Katarina; Svanberg, Sune; Andersson-Engels, Stefan; Fellman, Vineta

    2016-04-01

    Newborn infants may have pulmonary disorders with abnormal gas distribution, e.g., respiratory distress syndrome. Pulmonary radiography is the clinical routine for diagnosis. Our aim was to investigate a novel noninvasive optical technique for rapid nonradiographic bedside detection of oxygen gas in the lungs of full-term newborn infants. Laser spectroscopy was used to measure contents of oxygen gas (at 760 nm) and of water vapor (at 937 nm) in the lungs of 29 healthy newborn full-term infants (birth weight 2,900-3,900 g). The skin above the lungs was illuminated using two low-power diode lasers and diffusely emerging light was detected with a photodiode. Of the total 390 lung measurements performed, clear detection of oxygen gas was recorded in 60%, defined by a signal-to-noise ratio of >3. In all the 29 infants, oxygen was detected. Probe and detector positions for optimal pulmonary gas detection were determined. There were no differences in signal quality with respect to gender, body side or body weight. The ability to measure pulmonary oxygen content in healthy full-term neonates with this technique suggests that with further development, the method might be implemented in clinical practice for lung monitoring in neonatal intensive care.

  2. Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants.

    Science.gov (United States)

    Matsuo, Nobutake; Ishii, Tomohiro; Takayama, John I; Miwa, Masayuki; Hasegawa, Tomonobu

    2014-01-01

    The present study set forth the reference values for penile size and determined the prevalence of buried penis in Japanese full-term newborns. The stretched penile length was measured and the presence of buried penis was assessed at 1-7 days of age in 547 Japanese full-term newborn infants born between 2008 and 2012 in Tokyo. The stretched penile lengths were compared at 1-12 hours and 1-7 days of age in 63 infants and by two observers in 73 infants to estimate postnatal changes and interobserver variation, respectively. The mean stretched penile length was 3.06 cm (SD, 0.26; 95% confidence interval [CI], 3.04-3.08) and the mean ratio of penile length to body length was 6.24 × 100(-1) (SD, 0.55 × 100(-1)), both of which were significantly smaller than those in Caucasian newborn infants. Buried penis was identified in 20 of 547 infants (3.7%; 95% CI, 2.1-5.2%). The first measurements of penile length at 1-12 hours were significantly smaller than the next measurements at 1-7 days (95% CI of the difference, 0.22-0.34). The 95% CI for the limits of agreement in the penile lengths measured by the two observers was -0.58 to -0.40 for the lower limit and 0.33 to 0.51 for the upper limit. These findings indicate that the penile length should be assessed after 24 hours of age by the reference standard of the same ethnicity for identifying micropenis and that buried penis is not uncommon in Japanese full-term newborns.

  3. Climate change is associated with male:female ratios of fetal deaths and newborn infants in Japan

    DEFF Research Database (Denmark)

    Fukuda, Misao; Fukuda, Kiyomi; Shimizu, Takashi

    2014-01-01

    . INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Yearly sex ratios of fetal deaths and newborn infants and monthly fetal death rates and sex ratios of newborn infants. RESULT(S): A statistically significant positive association was found between yearly temperature differences and sex ratios of fetal deaths......; a statistically significant negative association was found between temperature differences and sex ratios of newborn infants from 1968 to 2012, and between sex ratios of births and of fetal deaths. The sex ratios of fetal deaths have been increasing steadily along with temperature differences, whereas the sex......OBJECTIVE: To evaluate whether climate change is associated with male:female ratios (sex ratios) of fetal deaths and births in Japan. DESIGN: A population-based cohort study. SETTING: Not applicable. PATIENT(S): Newborn infants and fetuses spontaneously aborted after 12 weeks of gestation...

  4. Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

    Science.gov (United States)

    Catarzi, Serena; Caciotti, Anna; Thusberg, Janita; Tonin, Rodolfo; Malvagia, Sabrina; la Marca, Giancarlo; Pasquini, Elisabetta; Cavicchi, Catia; Ferri, Lorenzo; Donati, Maria A.; Baronio, Federico; Guerrini, Renzo; Mooney, Sean D.; Morrone, Amelia

    2013-01-01

    Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder of fatty acid oxidation characterized by hypoglycemic crisis under fasting or during stress conditions, leading to lethargy, seizures, brain damage, or even death. Biochemical acylcarnitines data obtained through newborn screening by liquid chromatography-tandem mass spectrometry (LC-MS/MS) were confirmed by molecular analysis of the medium-chain acyl-CoA dehydrogenase (ACADM) gene. Out of 324.000 newborns screened, we identified 14 MCADD patients, in whom, by molecular analysis, we found a new nonsense c.823G>T (p.Gly275∗) and two new missense mutations: c.253G>C (p.Gly85Arg) and c.356T>A (p.Val119Asp). Bioinformatics predictions based on both phylogenetic conservation and functional/structural software were used to characterize the new identified variants. Our findings confirm the rising incidence of MCADD whose existence is increasingly recognized due to the efficacy of an expanded newborn screening panel by LC-MS/MS making possible early specific therapies that can prevent possible crises in at-risk infants. We noticed that the “common” p.Lys329Glu mutation only accounted for 32% of the defective alleles, while, in clinically diagnosed patients, this mutation accounted for 90% of defective alleles. Unclassified variants (UVs or VUSs) are especially critical when considering screening programs. The functional and pathogenic characterization of genetic variants presented here is required to predict their medical consequences in newborns. PMID:24294134

  5. Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

    Directory of Open Access Journals (Sweden)

    Serena Catarzi

    2013-01-01

    Full Text Available Medium-chain acyl-CoA dehydrogenase deficiency (MCADD is a disorder of fatty acid oxidation characterized by hypoglycemic crisis under fasting or during stress conditions, leading to lethargy, seizures, brain damage, or even death. Biochemical acylcarnitines data obtained through newborn screening by liquid chromatography-tandem mass spectrometry (LC-MS/MS were confirmed by molecular analysis of the medium-chain acyl-CoA dehydrogenase (ACADM gene. Out of 324.000 newborns screened, we identified 14 MCADD patients, in whom, by molecular analysis, we found a new nonsense c.823G>T (p.Gly275* and two new missense mutations: c.253G>C (p.Gly85Arg and c.356T>A (p.Val119Asp. Bioinformatics predictions based on both phylogenetic conservation and functional/structural software were used to characterize the new identified variants. Our findings confirm the rising incidence of MCADD whose existence is increasingly recognized due to the efficacy of an expanded newborn screening panel by LC-MS/MS making possible early specific therapies that can prevent possible crises in at-risk infants. We noticed that the “common” p.Lys329Glu mutation only accounted for 32% of the defective alleles, while, in clinically diagnosed patients, this mutation accounted for 90% of defective alleles. Unclassified variants (UVs or VUSs are especially critical when considering screening programs. The functional and pathogenic characterization of genetic variants presented here is required to predict their medical consequences in newborns.

  6. Two faces of patient advocacy: the current controversy in newborn screening.

    Science.gov (United States)

    Arnold, Cosby G

    2014-08-01

    Newborn screening programmes began in the 1960s, have traditionally been conducted without parental permission and have grown dramatically in the last decade. Whether these programmes serve patients' best interests has recently become a point of controversy. Privacy advocates, concerned that newborn screening infringes upon individual liberties, are demanding fundamental changes to these programmes. These include parental permission and limiting the research on the blood samples obtained, an agenda at odds with the viewpoints of newborn screening advocates. This essay presents the history of newborn screening in the USA, with attention to factors that have contributed to concerns about these programmes. The essay suggests that the rapid increase in the number of disorders screened for and the addition of research without either public knowledge or informed consent were critical to the development of resistance to mandatory newborn screening and research. Future newborn screening initiatives should include public education and comment to ensure continued support. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  7. Mass spectrometry in clinical chemistry: the case of newborn screening.

    Science.gov (United States)

    la Marca, Giancarlo

    2014-12-01

    Newborn screening (NBS) program is a complex and organized system consisting of family and personnel education, biochemical tests, confirmatory biochemical and genetic tests, diagnosis, therapy, and patient follow up. The program identifies treatable metabolic disorders possibly when asymptomatic by using dried blood spot (DBS). During the last 20 years tandem mass spectrometry (TMS) has become the leading technology in NBS programs demonstrating to be versatile, sensitive and specific. There is consistent evidence of benefits from NBS for many disorders detected by TMS as well as for congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia by immune-enzymatic methods. Real time PCR tests have more recently been proposed for the detection of some severe combined immunodeficiences (SCID) along with the use of TMS for ADA and PNP SCID; a first evaluation of their cost-benefit ratio is still ongoing. Avoiding false negative results by using specific biomarkers and reducing the false positive rate by using second tier tests, is fundamental for a successful NBS program. The fully integration of NBS and diagnostic laboratories with clinical service is crucial to have the best effectiveness in a comprehensive NBS system. Copyright © 2014 Elsevier B.V. All rights reserved.

  8. Standard of hygiene and immune adaptation in newborn infants

    NARCIS (Netherlands)

    Kallionpaa, Henna; Laajala, Essi; Oling, Viveka; Harkonen, Taina; Tillmann, Vallo; Dorshakova, Natalya V.; Ilonen, Jorma; Landesmaki, Harri; Knip, Mikael; Lahesmaa, Riitta; Koski, Katriina; Koski, Matti; Ryhanen, Samppa; Siljander, Heli; Hamalainen, Anu-Maaria; Ormisson, Anne; Peet, Aleksandr; Ulich, Valentina; Kuzmicheva, Elena; Mokurov, Sergei; Markova, Svettana; Pylova, Svetlana; Isakova, Marina; Shakurova, Elena; Petrov, Vladimir; Karapetyan, Tatyana; Varlamova, Tatyana; Ilonen, Jorma; Kiviniemi, Minna; Alnek, Kristi; Janson, Helis; Uibo, Raivo; Salum, Tiit; von Mutius, Erika; Weber, Juliane; Ahlfors, Helena; Moulder, Robert; Nieminen, Janne; Ruohtula, Terhi; Vaarala, Outi; Honkanen, Hanna; Hyoty, Heikki; Kondrashova, Anita; Oikarinen, Sami; Harmsen, Hermie J. M.; De Goffau, Marcus C.; Welling, Gjalt; Alahuhta, Kirsi; Korhonen, Tuuli; Virtanen, Suvi M.

    2014-01-01

    The prevalence of immune-mediated diseases, such as allergies and type 1 diabetes, is on the rise in the developed world. In order to explore differences in the gene expression patterns induced in utero in infants born in contrasting standards of living and hygiene, we collected umbilical cord blood

  9. Opiate treatment for opiate withdrawal in newborn infants.

    Science.gov (United States)

    Osborn, David A; Jeffery, Heather E; Cole, Michael J

    2010-10-06

    Neonatal abstinence syndrome (NAS) due to opiate withdrawal may result in disruption of the mother-infant relationship, sleep-wake abnormalities, feeding difficulties, weight loss and seizures. To assess the effectiveness and safety of using an opiate compared to a sedative or non-pharmacological treatment for treatment of NAS due to withdrawal from opiates. The review was updated in 2010 with additional searches CENTRAL, MEDLINE and EMBASE supplemented by searches of conference abstracts and citation lists of published articles. Randomized or quasi-randomized controlled trials of opiate treatment in infants with NAS born to mothers with opiate dependence. Each author assessed study quality and extracted data independently. Nine studies enrolling 645 infants met inclusion criteria. There were substantial methodological concerns in all studies comparing an opiate with a sedative. Two small studies comparing different opiates were of good methodology.Opiate (morphine) versus supportive care (one study): A reduction in time to regain birth weight and duration of supportive care and a significant increase in hospital stay was noted.Opiate versus phenobarbitone (four studies): Meta-analysis found no significant difference in treatment failure. One study reported opiate treatment resulted in a significant reduction in treatment failure in infants of mothers using only opiates. One study reported a significant reduction in days treatment and admission to the nursery for infants receiving morphine. One study reported a reduction in seizures, of borderline statistical significance, with the use of opiate.Opiate versus diazepam (two studies): Meta-analysis found a significant reduction in treatment failure with the use of opiate.Different opiates (six studies): there is insufficient data to determine safety or efficacy of any specific opiate compared to another opiate. Opiates compared to supportive care may reduce time to regain birth weight and duration of supportive care

  10. The behavior of the full-term but underweight newborn infant.

    Science.gov (United States)

    Als, H; Tronick, E; Adamson, L; Brazelton, T B

    1976-10-01

    Ten underweight full-term newborns were compared with 10 full-weight newborns on the Brazelton Neonatal Behavioral Assessment Scale. The Brazelton examination differentiated the two groups clearly on the reflexes of walking, crawling and passive movements of arms and legs, and on rooting and sucking. More importantly, it differentiated the two groups on behaviors which are important for the caretaker of the baby: these are attractiveness, need for stimulation, interactive processes and motor processes. The 10 underweight infants were followed up at a later date during the first year. They showed temperamental organizational difficulties and some indication of psychosomatic reaction to stress. It is possible that the underweight newborn's fragile organization elicits anxiety in the caretaker which makes interaction difficult.

  11. Newborn screening for congenital cytomegalovirus: Options for hospital-based and public health programs.

    Science.gov (United States)

    Grosse, Scott D; Dollard, Sheila; Ross, Danielle S; Cannon, Michael

    2009-12-01

    Congenital cytomegalovirus (CMV) infection is a leading cause of sensorineural hearing loss (SNHL) and developmental disability in children. Early identification of infected children through screening could allow for early intervention and improvement in functional outcomes among the subset who develop sequelae. To outline potential options and strategies for screening newborns for congenital CMV infection and to discuss barriers to screening and data needs to inform future policy decisions. Commentary based on the literature and expert opinion on newborn dried blood spot screening, newborn hearing screening/Early Hearing Detection and Intervention (EHDI) programs, and congenital CMV. Although no population-based screening for congenital CMV is underway, pilot newborn screening studies using a variety of assays with urine or dried blood spot specimens are underway. Challenges to screening are both practical-uncertain sensitivity of blood spot assays suitable for large-scale screening and lack of infrastructure for collection of urine specimens; and evidentiary-the need to demonstrate improved outcomes and value of screening to offset the expense and potential adverse psychosocial consequences for children and families whose children require periodic monitoring but never develop sequelae. Screening for congenital CMV infection is a potentially important intervention that merits additional research, including the logistical feasibility of different screening options and psychosocial consequences for families.

  12. L-citrulline provides a novel strategy for treating chronic pulmonary hypertension in newborn infants

    Science.gov (United States)

    Fike, Candice D.; Summar, Marshall; Aschner, Judy L.

    2014-01-01

    Effective therapies are urgently needed for infants with forms of pulmonary hypertension that develop or persist beyond the first week of life. The L-arginine nitric oxide (NO) precursor, L-citrulline, improves NO signalling and ameliorates pulmonary hypertension in newborn animal models. In vitro studies demonstrate that manipulating L-citrulline transport alters NO production. Conclusion Strategies that increase the supply and transport of L-citrulline merit pursuit as novel approaches to managing infants with chronic, progressive pulmonary hypertension. PMID:24862864

  13. Magnetic resonance and cranial ultrasound characteristics of periventricular white matter abnormalities in newborn infants

    International Nuclear Information System (INIS)

    Childs, Anne-Marie; Cornette, Luc; Ramenghi, Luca A.; Tanner, Steven F.; Arthur, Rosemary J.; Martinez, Delia; Levene, Malcolm I.

    2001-01-01

    OBJECTIVE: To characterize the range of abnormalities within the periventricular white matter (PVWM) in a cohort of newborns using magnetic resonance (MR) brain imaging and to compare the focal MR abnormalities with the cranial ultrasound (CUS) findings. METHODS: Retrospective study of MR brain and CUS findings of infants born in the 18-month period 1998-1999. PVWM abnormalities were identified by MR and focal lesions were characterized by size, number and distribution using a grading scale. Correspondence with CUS findings was assessed. RESULTS: 175 MR examinations corresponding to n = 105 preterm infants, (median GA 28, range 23-36 weeks) and n = 25 term infants (median GA 39, range 37-42 weeks) were analysed for PVWM abnormalities. In the preterm group, MR demonstrated a normal PVWM in n = 76, focal areas of altered signal intensity (SI) in PVWM in n = 26 and venous infarction inn 3. In the term group, MR demonstrated a normal PVWM in n = 15, focal areas of altered SI in PVWM in n = 4, oedematous PVWM in n = 2 and a middle cerebral artery infarction in n = 4. All infants with normal MR had normal CUS findings. A focal PVWM SI abnormality detectable on MR corresponded with an abnormality on CUS in only n = 10/30. CONCLUSIONS: MR appears considerably more sensitive than CUS in demonstrating the existence and extent of focal PVWM lesions in newborn infants. Satisfactory correspondence between the two imaging investigations is obtained only for cystic PVWM lesions. Childs, A.-M. et al. (2001)

  14. The effect of surgery on lung volume and conventional monitoring parameters in ventilated newborn infants.

    Science.gov (United States)

    Proquitté, H; Freiberger, O; Yilmaz, S; Bamberg, C; Degenhardt, P; Roehr, C C; Wauer, R R; Schmalisch, G

    2010-05-01

    In newborn infants, thoraco-abdominal surgery is a serious intervention with respect to gas exchange and lung mechanics. This prospective clinical study compared surgery-induced changes in functional residual capacity (FRC) and ventilation inhomogeneity (VI) indices with changes in conventional monitoring parameters. Of 29 ventilated newborns (mean weight 2,770+/-864 g at surgery), 13, nine and seven underwent thoracic, abdominal or congenital diaphragmatic hernia (CDH) surgery, respectively. The multiple breath washout (MBWO) technique using heptafluoropropane as tracer gas (Babylog 8000; Dräger, Lübeck, Germany) was performed ventilatory monitoring parameters. FRC decreased in non-CDH infants, while FRC increased and VI indices decreased in CDH infants. Despite improvements, the differences in FRC and VI between CDH and non-CDH infants indicated persistent impaired lung function in CHD infants. MBWO can be advantageously used to measure the effect of surgery on the lung. While FRC and VI indices changed following surgery, conventional monitoring parameters did not.

  15. Delivery room continuous positive airway pressure and early pneumothorax in term newborn infants.

    Science.gov (United States)

    Clevenger, L; Britton, J R

    2017-01-01

    To assess the association between delivery room (DR) continuous positive airway pressure (CPAP) and pneumothorax (PT) in term newborns. Two studies performed in community hospitals used data extracted from computerized records of term newborns. Infants receiving positive pressure ventilation in the DR were excluded. Tabulated data included receipt of DR CPAP, PT on the day of birth, and gestational age (GA). In a case-control study from 2001-2013, infants with PT were compared to controls without PT but with respiratory distress or hypoxia persisting from birth for receipt of DR CPAP. In a cohort study from 2014-2016, infants receiving and not receiving DR CPAP were compared for the incidence of PT. In the case-control study, data were obtained for 169 cases and 850 controls. Compared to controls, PT infants were more likely to have received DR CPAP (16.8% vs. 40.2%, respectively, P CPAP (Adjusted Odds Ratio [AOR] = 3.30, 95% confidence interval [CI] = 2.31, 4.72, P CPAP and 4.8% of 228 infants receiving DR CPAP (P CPAP significantly predicted PT (OR = 59.59, 95% CI = 23.34, 147.12, P CPAP in delivery rooms are associated with increased risk of PT. A cause-and-effect relationship between CPAP and PT cannot be claimed in this study. Further research is needed to better understand this relationship.

  16. Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis

    Directory of Open Access Journals (Sweden)

    Ivan Romero Rivera

    2000-08-01

    Full Text Available Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome. These changes were later confirmed on angiography, which also showed peripheral vascular abnormalities. The electrocardiogram showed a probable hemiblock of the left anterosuperior branch, and the chest x-ray showed an excavated pulmonary trunk with normal pulmonary flow.

  17. Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.

    Science.gov (United States)

    Theda, Christiane; Gibbons, Katy; Defor, Todd E; Donohue, Pamela K; Golden, W Christopher; Kline, Antonie D; Gulamali-Majid, Fizza; Panny, Susan R; Hubbard, Walter C; Jones, Richard O; Liu, Anita K; Moser, Ann B; Raymond, Gerald V

    2014-01-01

    X-linked adrenoleukodystrophy (ALD) is characterized by adrenal insufficiency and neurologic involvement with onset at variable ages. Plasma very long chain fatty acids are elevated in ALD; even in asymptomatic patients. We demonstrated previously that liquid chromatography tandem mass spectrometry measuring C26:0 lysophosphatidylcholine reliably identifies affected males. We prospectively applied this method to 4689 newborn blood spot samples; no false positives were observed. We show that high throughput neonatal screening for ALD is methodologically feasible. Copyright © 2013 Elsevier Inc. All rights reserved.

  18. Colic in newborn and infant: a literature review

    OpenAIRE

    Sarfati Kosminsky, Fanny; Fumiko Kimura, Amélia

    2008-01-01

    This paper is a literature review on excessive crying and colic that affect babies during their first period of life. This text presents the clinical definition, etiology, colic associated factors and interventions to relief and treatment of infant colic. Articles published in medical and nursing journals indexed at MEDLINE and LILACS computerized database available in the libraries of BIREME, Universidade de São Paulo and CAPES homepage were analysed. Se trata de una revisión de literatur...

  19. [Colic in newborns and infants: a literature review].

    Science.gov (United States)

    Kosminsky, Fanny Sarfati; Kimura, Amélia Fumiko

    2004-08-01

    This paper is a literature review on excessive crying and colic that affect babies during their first period of life. This text presents the clinical definition, etiology, colic associated factors and interventions to relief and treatment of infant colic. Articles published in medical and nursing journals indexed at MEDLINE and LILACS computerized database available in the libraries of BIREME, Universidade de São Paulo and CAPES homepage were analysed.

  20. The Utility of Routine Echocardiography in Newborn Infants with a Persistent Oxygen Requirement

    LENUS (Irish Health Repository)

    Walsh, N

    2018-05-01

    In the era of antenatal screening for congenital heart disease (CHD), infants presenting with an undiagnosed significant CHD are rare. However, term infants admitted with an initial diagnosis of TTN and a prolonged oxygen requirement often undergo an echocardiogram. We aimed to assess whether this practice yields any additional cases of undiagnosed CHD. We performed a retrospective chart review over a three year period [2013 – 2015] of term (> 36 weeks) infants admitted to the NICU for ≥ 5 days with a diagnosis of TTN and received an echocardiogram. The presence of CHD on the echocardiogram was assessed. Forty-seven infants were enrolled. The median age of echocardiogram was day four [2 – 8]. No infant had a diagnosis of significant CHD on the postnatal echocardiogram. A small muscular VSD was identified in two infants. Routine echocardiography for this cohort of infants to rule out major CHD appears to be unwarranted.

  1. Seroprevalence of Bordetella pertussis among vaccinated and unvaccinated pregnant women and newborn infants in a university hospital of Buenos Aires.

    Science.gov (United States)

    Bosch, Juan J; Fernández, Hilaria; Polak, Fernando P; Musante, Gabriel; Libster, Romina; Rocca Rivarola, Manuel

    2017-08-01

    Pertussis is a highly contagious disease caused by Bordetella pertussis. It poses a high morbidity and mortality rate, especially among infants younger than 6 months old. In Argentina, pertussis incidence and mortality have increased over the past three decades. To establish Bordetella pertussisantibody titers among pregnant women in their third trimester and among newborn infants, as measured in cord blood. This was an observational, cross-sectional study. The study started in 2011; at that time, pertussis vaccination was not mandatory for pregnant women as per the national immunization schedule, only optional. Maternal antibodies were measured in the last trimester of pregnancy for women and in cord blood for newborn infants. Antibody titers were determined using Abcam's anti-Bordetella pertussis toxin (PT) IgG in vitro ELISA kit. The χ² test was used to compare prevalence rates. The study included 111 mother-newborn infant dyads; 35 infants from unvaccinated mothers (before the introduction of the vaccine) and 76 from vaccinated mothers. Positive IgG antibodies were found in 92% (70/76) of infants born from vaccinated mothers whereas 100% (35/35) of infants born from unvaccinated mothers had negative results for antibodies; p < 0.001. In the vaccinated population of this study, 92% of infants had positive IgG antibodies. This study supports the need for maternal immunization against Bordetella pertussis to provide protection to newborn infants. Sociedad Argentina de Pediatría

  2. Newborn Dried Blood Spot Polymerase Chain Reaction to Identify Infants with Congenital Cytomegalovirus-Associated Sensorineural Hearing Loss.

    Science.gov (United States)

    Ross, Shannon A; Ahmed, Amina; Palmer, April L; Michaels, Marian G; Sánchez, Pablo J; Stewart, Audra; Bernstein, David I; Feja, Kristina; Fowler, Karen B; Boppana, Suresh B

    2017-05-01

    To determine the utility of dried blood spot (DBS) polymerase chain reaction (PCR) in identifying infants with cytomegalovirus (CMV) infection-associated sensorineural hearing loss (SNHL). Newborns at 7 US hospitals between March 2007 and March 2012 were screened for CMV by saliva rapid culture and/or PCR. Infected infants were monitored for SNHL during the first 4 years of life to determine sensitivity, specificity, and positive and negative likelihood ratios of DBS PCR for identifying CMV-associated SNHL. DBS at birth was positive in 11 of 26 children (42%) with SNHL at age 4 years and in 72 of 270 children (27%) with normal hearing (P = .11). The sensitivity (42.3%; 95% CI, 23.4%-63.1%) and specificity (73.3%; 95% CI, 67.6%-78.5%) was low for DBS PCR in identifying children with SNHL at age 4 years. The positive and negative likelihood ratios of DBS PCR positivity to detect CMV-associated SNHL at age 4 years were 1.6 (95% CI, 0.97-2.6) and 0.8 (95% CI, 0.6-1.1), respectively. There was no difference in DBS viral loads between children with SNHL and those without SNHL. DBS PCR for CMV has low sensitivity and specificity for identifying infants with CMV-associated hearing loss. These findings, together with previous reports, demonstrate that DBS PCR does not identify either the majority of CMV-infected newborns or those with CMV-associated SNHL early in life. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Intraventricular hemorrhage in the newborn and very young infant

    International Nuclear Information System (INIS)

    Takagi, Takuji; Togari, Hajime; Shimizu, Kuniki

    1980-01-01

    CT has been established as a rapid, safe and non-invasive technique for the diagnosis of neonatal intraventricular hemorrhage (IVH). It demonstrates the precise extent of IVH after birth. Eight infants with IVH (5 boys and 3 girls) were studied with CT using an EMI (1010) scanner. Five of the eight infants survived. Three infants (cases 1, 2 and 6) developed severe hydrocephalus. Shunting procedure were performed on these 3 cases, and they survived. The remainder (cases 3, 4, 7 and 8), examined within 5 days after the onset of symptoms, showed IVH. Cases 3, 7 and 8 died. Case 3 had an extensive hematoma in the right lateral ventricle, while case 7 and 8 had a hematoma forming a cast in the whole ventricular system. Case 5 and 6 had clots in the trigonum of both lateral ventricles. In cases 4, 5 and 6, spinal taps were performed frequently to reduce intracranial pressure, and CT was repeated one time a week. Case 4 showed no hydrocephalus. In case 5, the clots became smaller gradually and disappeared on the 25th day after birth. The lateral ventricles distended gradually. However, the distension was spontaneously arrested in this case. Case 6 showed progressive hydrocephalus despite repeated spinal taps, so V-P shunt was performed. But the shunt system was removed on the 14th postoperative day because of malfunction in the system. Thereafter he showed no hydrocephalus. Types of IVH are classified by CT findings into 4 groups: 1) showing hydrocephalus, 2) clotting observed in one ventricle, 3) clotting observed in 2 ventricles, 4) clotting observed throughout the ventricular system. Thus, CT provides useful diagnostic information about the presence, site and distension of the IVH. Its findings enable the physician to make an appropriate prognostic judgement. (author)

  4. Informing parents about expanded newborn screening: influences on provider involvement.

    Science.gov (United States)

    Hayeems, Robin Z; Miller, Fiona A; Little, Julian; Carroll, June C; Allanson, Judith; Chakraborty, Pranesh; Wilson, Brenda J; Bytautas, Jessica P; Christensen, Robert J

    2009-09-01

    Expanded newborn screening (NBS) identifies some disorders for which clinical benefit is uncertain, as well as "incidental" findings (eg, carrier status), thus enhancing the need to inform parents about NBS before sample collection. A self-complete survey was sent to a cross-sectional, stratified, random sample of 5 provider groups in Ontario (obstetricians, midwives, family physicians, pediatricians, and nurses). Univariate and multivariate analyses were used to investigate the effects of core beliefs, perceived barriers, and demographic characteristics on the reported frequency of informing parents about NBS before sample collection. Virtually all of the midwives and almost half of the nurses reported discussing NBS with parents, whereas less than one sixth of the physicians did so. Providers who perceived a responsibility to inform parents were 3 times more likely to report doing so than those who did not perceive this responsibility (odds ratio: 2.9 [95% confidence interval: 2.1-4.1]). Those who lacked confidence to inform parents were 70% less likely to discuss NBS with parents compared with those who did not experience this cognitive barrier (odds ratio: 0.3 [95% confidence interval: 0.2-0.4]). Controlling for these covariates, family physicians and obstetricians were more likely than pediatricians to inform parents. These results provide guidance for capacity building among providers who are positioned to inform parents about NBS before sample collection. Our findings call for targeted educational interventions that consider patterns of provider practice related to prenatal and NBS care, seek to redress confidence limitations, and engage key provider groups in the importance of this professional responsibility.

  5. Have we stopped looking for a red reflex in newborn screening?

    LENUS (Irish Health Repository)

    Sotomi, O

    2012-02-03

    Best medical evidence indicates that surgical treatment of significant congenital cataracts is required within the first 3 months of life for optimal visual outcome. The aim of the present study was to review when the diagnosis of congenital cataracts was made in our region, by whom it was made, and the visual outcome at 2 years of age or more. This was a retrospective study in a region with a population of 546,000 and approximately 8500 births per annum, served by a single Regional Ophthalmology centre. All children under 15 years, diagnosed with Congenital Cataract over a 10-year period (1991-2002), were identified using the Hospital In-Patient Enquiry [HIPE] database. Children with cataract(s) from infancy from a congenital cause and those first presenting outside infancy but with salient clinical features indicating early cataract were included in the study. 27 cases of congenital and infantile cataract 15 (56%) males, 12 (44%) females were retrieved. 17 infants (63%) were diagnosed with bilateral disease, while the remainder were unilateral 10 (37%). Most of the cases 17 (63%) were diagnosed following presentation with parental\\/carer concerns about visual function (usually a squint). However only 2 of these 17 cases presented before 3 months of age. The remaining cases of congenital cataracts were diagnosed by general practitioners 8 (24%), paediatricians 4 (12%), ophthalmologists 3 (9%) or School Medical Officer (1, 3%). No case of congenital cataract was diagnosed by newborn screening examination. Six of 8 infants diagnosed with congenital cataracts before three months of age had a good visual outcome, (visual acuity < 6\\/24 at 2 years or more). In contrast only 3 of 19 cases who were diagnosed after 3 months of age had good visual outcomes. Despite their relative rarity, it is imperative that congenital cataracts are diagnosed and treated within 3 months of birth. The onus of diagnosis rests with newborn screening examiners at birth and with general

  6. Building Relationships: Integrating Infant Mental Health Services in a Newborn and Infant Critical Care Unit

    Science.gov (United States)

    Lakatos, Patricia P.; Matic, Tamara; Carson, Melissa C.; Williams, Marian E.

    2017-01-01

    Infants are born primed to develop attachment relationships. However, when infants are hospitalized in the neonatal intensive care unit at birth, the stress and trauma associated with the highly specialized medical environment can threaten the development of a nurturing and secure caregiving relationship. Infant mental health is an evidence-based…

  7. The economics of screening infants at risk of hearing impairment: an international analysis.

    Science.gov (United States)

    Burke, Martyn J; Shenton, Ruth C; Taylor, Matthew J

    2012-02-01

    Hearing impairment in children across the world constitutes a particularly serious obstacle to their optimal development and education, including language acquisition. Around 0.5-6 in every 1000 neonates and infants have congenital or early childhood onset sensorineural deafness or severe-to-profound hearing impairment, with significant consequences. Therefore, early detection is a vitally important element in providing appropriate support for deaf and hearing-impaired babies that will help them enjoy equal opportunities in society alongside all other children. This analysis estimates the costs and effectiveness of various interventions to screen infants at risk of hearing impairment. The economic analysis used a decision tree approach to determine the cost-effectiveness of newborn hearing screening strategies. Two unique models were built to capture different strategic screening decisions. Firstly, the cost-effectiveness of universal newborn hearing screening (UNHS) was compared to selective screening of newborns with risk factors. Secondly, the cost-effectiveness of providing a one-stage screening process vs. a two-stage screening process was investigated. Two countries, the United Kingdom and India, were used as case studies to illustrate the likely cost outcomes associated with the various strategies to diagnose hearing loss in infants. In the UK, the universal strategy incurs a further cost of approximately £2.3 million but detected an extra 63 cases. An incremental cost per case detected of £36,181 was estimated. The estimated economic burden was substantially higher in India when adopting a universal strategy due to the higher baseline prevalence of hearing loss. The one-stage screening strategy accumulated an additional 13,480 and 13,432 extra cases of false-positives, in the UK and India respectively when compared to a two-stage screening strategy. This represented increased costs by approximately £1.3 million and INR 34.6 million. The cost

  8. Soy protein-based infant formulas with supplemental fructooligosaccharides: gastrointestinal tolerance and hydration status in newborn infants.

    Science.gov (United States)

    Lasekan, John; Baggs, Geraldine; Acosta, Sonja; Mackey, Amy

    2015-04-22

    Unlike milk-based infant formulas, soy-based infant formulas containing supplemental fructooligosaccharides (FOS) have not been clinically evaluated. A randomized, double-blind, 28 day parallel feeding trial compared gastrointestinal (GI) tolerance and hydration in healthy term newborn infants fed either a commercialized soy formula (with history of safe use) containing sucrose as 20% of total carbohydrate, no supplemental short-chain FOS (scFOS) and no mixed carotenoids (lutein, lycopene, beta-carotene) as a control (CF, n = 62 infants) or one of two experimental soy-based formulas, EF1 (n = 64) and EF2 (n = 62) containing scFOS (2.5 g/L) and mixed carotenoids. EF1 differed from EF2 by containing sucrose. Results indicated no significant study group differences (p > 0.05) in study completion rates (CF = 81, EF1 = 86, & EF2 = 87%), growth, mean rank stool consistency, stool frequency, formula intake, spit-up/vomit, and safety measures (urine specific gravity, USG; hydration status and adverse events). Mean USGs for study groups were normal ( CF group in percent yellow stools (p < 0.01 at age 14 days). In conclusion, the study suggested that term infants fed soy-based formulas supplemented with scFOS and mixed carotenoids, with or without sucrose in the 1st 35 days of infancy demonstrated good tolerance and hydration comparable to the control soy-based formula with history of safe use.

  9. Soy Protein-Based Infant Formulas with Supplemental Fructooligosaccharides: Gastrointestinal Tolerance and Hydration Status in Newborn Infants

    Directory of Open Access Journals (Sweden)

    John Lasekan

    2015-04-01

    Full Text Available Unlike milk-based infant formulas, soy-based infant formulas containing supplemental fructooligosaccharides (FOS have not been clinically evaluated. A randomized, double-blind, 28 day parallel feeding trial compared gastrointestinal (GI tolerance and hydration in healthy term newborn infants fed either a commercialized soy formula (with history of safe use containing sucrose as 20% of total carbohydrate, no supplemental short-chain FOS (scFOS and no mixed carotenoids (lutein, lycopene, beta-carotene as a control (CF, n = 62 infants or one of two experimental soy-based formulas, EF1 (n = 64 and EF2 (n = 62 containing scFOS (2.5 g/L and mixed carotenoids. EF1 differed from EF2 by containing sucrose. Results indicated no significant study group differences (p > 0.05 in study completion rates (CF = 81, EF1 = 86, & EF2 = 87%, growth, mean rank stool consistency, stool frequency, formula intake, spit-up/vomit, and safety measures (urine specific gravity, USG; hydration status and adverse events. Mean USGs for study groups were normal (<1.03. The EF1 > CF group in percent yellow stools (p < 0.01 at age 14 days. In conclusion, the study suggested that term infants fed soy-based formulas supplemented with scFOS and mixed carotenoids, with or without sucrose in the 1st 35 days of infancy demonstrated good tolerance and hydration comparable to the control soy-based formula with history of safe use.

  10. Plasma cytokine levels fall in preterm newborn infants on nasal CPAP with early respiratory distress.

    Science.gov (United States)

    Carvalho, Clarissa Gutierrez; Silveira, Rita de Cassia; Neto, Eurico Camargo; Procianoy, Renato Soibelmann

    2015-01-01

    Early nCPAP seems to prevent ventilator-induced lung injury in humans, although the pathophysiological mechanisms underlying this beneficial effect have not been clarified yet. To evaluate plasma levels IL-1β, IL-6, IL-8, IL-10, and TNF-α immediately before the start of nCPAP and 2 hours later in preterm infants. Prospective cohort including preterm infants with 28 to 35 weeks gestational age with moderate respiratory distress requiring nCPAP. Extreme preemies, newborns with malformations, congenital infections, sepsis, surfactant treatment, and receiving ventilatory support in the delivery room were excluded. Blood samples were collected right before and 2 hours after the start of nCPAP. 23 preterm infants (birth weight 1851±403 grams; GA 32.3±1.7 weeks) were treated with nCPAP. IL-1β, IL-10, TNF-α levels were similar, IL-8 levels were reduced in 18/23 preterm infants and a significant decrease in IL-6 levels was observed after 2 hours of nCPAP. All newborns whose mothers received antenatal steroids had lower cytokine levels at the onset of nCPAP than those whose mothers didn't receive it; this effect was not sustained after 2 hours of nCPAP. Early use nCPAP is not associated with rising of plasma pro-inflammatory cytokines and it seems to be a less harmful respiratory strategy for preterm with moderate respiratory distress.

  11. Plasma cytokine levels fall in preterm newborn infants on nasal CPAP with early respiratory distress.

    Directory of Open Access Journals (Sweden)

    Clarissa Gutierrez Carvalho

    Full Text Available Early nCPAP seems to prevent ventilator-induced lung injury in humans, although the pathophysiological mechanisms underlying this beneficial effect have not been clarified yet.To evaluate plasma levels IL-1β, IL-6, IL-8, IL-10, and TNF-α immediately before the start of nCPAP and 2 hours later in preterm infants.Prospective cohort including preterm infants with 28 to 35 weeks gestational age with moderate respiratory distress requiring nCPAP. Extreme preemies, newborns with malformations, congenital infections, sepsis, surfactant treatment, and receiving ventilatory support in the delivery room were excluded. Blood samples were collected right before and 2 hours after the start of nCPAP.23 preterm infants (birth weight 1851±403 grams; GA 32.3±1.7 weeks were treated with nCPAP. IL-1β, IL-10, TNF-α levels were similar, IL-8 levels were reduced in 18/23 preterm infants and a significant decrease in IL-6 levels was observed after 2 hours of nCPAP. All newborns whose mothers received antenatal steroids had lower cytokine levels at the onset of nCPAP than those whose mothers didn't receive it; this effect was not sustained after 2 hours of nCPAP.Early use nCPAP is not associated with rising of plasma pro-inflammatory cytokines and it seems to be a less harmful respiratory strategy for preterm with moderate respiratory distress.

  12. Extracting respiratory data from pulse oximeter plethysmogram traces in newborn infants.

    Science.gov (United States)

    Wertheim, D; Olden, C; Savage, E; Seddon, P

    2009-07-01

    To investigate whether valid respiratory data can be extracted from the pulse oximeter plethysmographic (pleth) trace in healthy newborn infants, pleth data were collected from the foot, and respiratory airflow was simultaneously measured using a facemask. The pleth waveform was analysed using fast Fourier transform (FFT), low-pass filtering (LPF), and by plotting the peak-to-peak amplitude variation (PtP). Using FFT in 14 term infants, the median (range) respiratory rate from the pleth signal was 43 (30-65) breaths/min, and from the flow signal it was 44 (30-67) breaths/min (median difference 0.01 breaths/min, p>0.05). Both LPF and PtP analysis yielded waveforms with a frequency similar to the respiratory rate. Respiratory information, including respiratory rate and a respiratory-like waveform, can reliably be extracted from the pleth trace of a standard pulse oximeter in newborn infants. Such analysis may be clinically useful for non-invasive assessment of respiratory problems in infants and young children.

  13. Kinetics and dose calculations of ampicillin and gentamicin given as continuous intravenous infusion during parenteral nutrition in 88 newborn infants

    DEFF Research Database (Denmark)

    Colding, H; Møller, S; Bentzon, M W

    1983-01-01

    Ampicillin and gentamicin were administered continuously intravenously to 88 newborn infants using individually calculated dosages. For infants with a mean value of plasma clearance of the antibiotics, it was calculated that the serum ampicillin and gentamicin concentrations would be between 35-5...

  14. Continuous intravenous infusion of ampicillin and gentamicin during parenteral nutrition to 36 newborn infants using a dosage schedule

    DEFF Research Database (Denmark)

    Colding, H; Møller, S; Andersen, G E

    1984-01-01

    Ampicillin and gentamicin were given continuously i.v. to 36 newborn infants using a dosage schedule and the results were compared with those obtained in an earlier study including 88 infants who received individually calculated dosages. With the dosage schedule the variation in the serum concent...

  15. Newborn Hearing Screening and Early Diagnostic in the NICU

    Directory of Open Access Journals (Sweden)

    Maria Francisca Colella-Santos

    2014-01-01

    Full Text Available The aim was to describe the outcome of neonatal hearing screening (NHS and audiological diagnosis in neonates in the NICU. The sample was divided into Group I: neonates who underwent NHS in one step and Group II: neonates who underwent a test and retest NHS. NHS procedure was automated auditory brainstem response. NHS was performed in 82.1% of surviving neonates. For GI, referral rate was 18.6% and false-positive was 62.2% (normal hearing in the diagnostic stage. In GII, with retest, referral rate dropped to 4.1% and false-positive to 12.5%. Sensorineural hearing loss was found in 13.2% of infants and conductive in 26.4% of cases. There was one case of auditory neuropathy spectrum (1.9%. Dropout rate in whole process was 21.7% for GI and 24.03% for GII. We concluded that it was not possible to perform universal NHS in the studied sample or, in many cases, to apply it within the first month of life. Retest reduced failure and false-positive rate and did not increase evasion, indicating that it is a recommendable step in NHS programs in the NICU. The incidence of hearing loss was 2.9%, considering sensorineural hearing loss (0.91%, conductive (1.83% and auditory neuropathy spectrum (0.19%.

  16. Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

    Science.gov (United States)

    Armangue, Thais; Orsini, Joseph J; Takanohashi, Asako; Gavazzi, Francesco; Conant, Alex; Ulrick, Nicole; Morrissey, Mark A; Nahhas, Norah; Helman, Guy; Gordish-Dressman, Heather; Orcesi, Simona; Tonduti, Davide; Stutterd, Chloe; van Haren, Keith; Toro, Camilo; Iglesias, Alejandro D; van der Knaap, Marjo S; Goldbach Mansky, Raphaela; Moser, Anne B; Jones, Richard O; Vanderver, Adeline

    2017-11-01

    Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy associated with systemic autoinflammation causing interferon (IFN) elevation, central nervous system calcifications, leukodystrophy and severe neurologic sequelae. An infant with TREX1 mutations was recently found to have abnormal C26:0 lysophosphatidylcholine (C26:0 Lyso-PC) in a newborn screening platform for X-linked adrenoleukodystrophy, prompting analysis of this analyte in retrospectively collected samples from individuals affected by AGS. In this study, we explored C26:0 Lyso-PC levels and IFN signatures in newborn blood spots and post-natal blood samples in 19 children with a molecular and clinical diagnosis of AGS and in the blood spots of 22 healthy newborns. We used Nanostring nCounter™ for IFN-induced gene analysis and a high-performance liquid chromatography with tandem mass spectrometry (HPLC MS/MS) newborn screening platform for C26:0 Lyso-PC analysis. Newborn screening cards from patients across six AGS associated genes were collected, with a median disease presentation of 2months. Thirteen out of 19 (68%) children with AGS had elevations of first tier C26:0 Lyso-PC (>0.4μM), that would have resulted in a second screen being performed in a two tier screening system for X-linked adrenoleukodystrophy (X-ALD). The median (95%CI) of first tier C26:0 Lyso-PC values in AGS individuals (0.43μM [0.37-0.48]) was higher than that seen in controls (0.21μM [0.21-0.21]), but lower than X-ALD individuals (0.72μM [0.59-0.84])(p<0.001). Fourteen of 19 children had elevated expression of IFN signaling on blood cards relative to controls (Sensitivity 73.7%, 95%CI 51-88%, Specificity 95%, 95% CI 78-99%) including an individual with delayed disease presentation (36months of age). All five AGS patients with negative IFN signature at birth had RNASEH2B mutations. Consistency of agreement between IFN signature in neonatal and post-natal samples was high (0.85). This suggests that inflammatory markers

  17. Context effects on processing widely deviant sounds in newborn infants

    Directory of Open Access Journals (Sweden)

    Gábor Péter Háden

    2013-09-01

    Full Text Available Detecting and orienting towards sounds carrying new information is a crucial feature of the human brain that supports adaptation to the environment. Rare, acoustically widely deviant sounds presented amongst frequent tones elicit large event related brain potentials (ERPs in neonates. Here we tested whether these discriminative ERP responses reflect only the activation of fresh afferent neuronal populations (i.e., neuronal circuits not affected by the tones or they also index the processing of contextual mismatch between the rare and the frequent sounds.In two separate experiments, we presented sleeping newborns with 150 different environmental sounds and the same number of white noise bursts. Both sounds served either as deviants in an oddball paradigm with the frequent standard stimulus a tone (Novel/Noise deviant, or as the standard stimulus with the tone as deviant (Novel/Noise standard, or they were delivered alone with the same timing as the deviants in the oddball condition (Novel/Noise alone.Whereas the ERP responses to noise–deviants elicited similar responses as the same sound presented alone, the responses elicited by environmental sounds in the corresponding conditions morphologically differed from each other. Thus whereas the ERP response to the noise sounds can be explained by the different refractory state of stimulus specific neuronal populations, the ERP response to environmental sounds indicated context sensitive processing. These results provide evidence for an innate tendency of context dependent auditory processing as well as a basis for the different developmental trajectories of processing acoustical deviance and contextual novelty.

  18. SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba

    Directory of Open Access Journals (Sweden)

    Ernesto Carlos González Reyes PhD

    2016-07-01

    Full Text Available The ultramicroanalytic system (SUMA, created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA tests with the use of ultramicrovolumes. This technology permitted establishing large-scale newborn screening programs (NSPs for metabolic and endocrine disorders in Cuba. This article summarizes the main results of the implementation during the 30 years of SUMA technology in NSP for 5 inherited metabolic diseases, using ultramicroassays developed at the Department of Newborn Screening at the Immunoassay Center. Since 1986, SUMA technology has been used in the Cuban NSP for congenital hypothyroidism, initially studying thyroid hormone in cord serum samples. In 2000, a decentralized program for the detection of hyperphenylalaninemias using heel dried blood samples was initiated. These successful experiences permitted including protocols for screening congenital adrenal hyperplasia, galactosemia, and biotinidase deficiency in 2005. A program for the newborn screening of CH using the thyroid-stimulating hormone Neonatal ultramicro-ELISA was fully implemented in 2010. Nowadays, the NSP is supported by a network of 175 SUMA laboratories. After 30 years, more than 3.8 million Cuban newborns have been screened, and 1002 affected children have been detected. Moreover, SUMA technology has been presented in Latin America for over 2 decades and has contributed to screen around 17 million newborns. These results prove that developing countries can develop appropriate diagnostic technologies for making health care accessible to all.

  19. Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

    Directory of Open Access Journals (Sweden)

    Heydy Bravo

    2017-09-01

    Full Text Available Lysosomal storage diseases (LSDs are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not of the cases that had an abnormal result in the initial screening. We present here the methods and results of the additional investigation performed in four babies with positive initial screening results in a program of NBS for LSDs performed by a private laboratory in over 10,000 newborns in Brazil. The suspicion in these cases was of Mucopolysaccharidosis I - MPS I (in two babies, Pompe disease and Gaucher disease (one baby each. One case of pseudodeficiency for MPS I, 1 carrier for MPS I, 1 case of pseudodeficiency for Pompe disease and 1 carrier for Gaucher disease were identified. This report illustrates the challenges that may be encountered by NBS programs for LSDs, and the need of a comprehensive protocol for the rapid and precise investigation of the babies who have an abnormal screening result.

  20. Estimation of tidal ventilation in preterm and term newborn infants using electromagnetic inductance plethysmography

    International Nuclear Information System (INIS)

    Williams, E M; Pickerd, N; Kotecha, S; Eriksen, M; Øygarden, K

    2011-01-01

    Tidal volume (VT) measurements in newborn infants remain largely a research tool. Tidal ventilation and breathing pattern were measured using a new device, FloRight, which uses electromagnetic inductive plethysmography, and compared simultaneously with pneumotachography in 43 infants either receiving no respiratory support or continuous positive airway pressure (CPAP). Twenty-three infants were receiving CPAP (gestational age 28 ± 2 weeks, mean ± SD) and 20 were breathing spontaneously (gestational age 34 ± 4 weeks). The two methods were in reasonable agreement, with VT (r 2 = 0.69) ranging from 5 to 23 ml (4–11 ml kg −1 ) with a mean difference of 0.4 ml and limit of agreement of −4.7 to + 5.5 ml. For respiratory rate, minute ventilation, peak flow and breathing pattern indices, the mean difference between the two methods ranged between 0.7% and 5.8%. The facemask increased the respiratory rate (P < 0.001) in both groups with the change in VT being more pronounced in the infants receiving no respiratory support. Thus, FloRight provides an easy to use technique to measure term and preterm infants in the clinical environment without altering the infant's breathing pattern

  1. CDC’s Newborn Screening Program - Role of Laboratories

    Centers for Disease Control (CDC) Podcasts

    2013-09-03

    When newborn screening started in the U.S. 50 years ago, many questioned whether it was even possible to test every baby born in every state. Today, all states screen babies for at least 29 disorders that can be detected through laboratory testing. In this podcast, Dr. Carla Cuthbert talks about CDC’s Newborn Screening Quality Assurance Program and the role laboratories play in keeping babies healthy.  Created: 9/3/2013 by National Center for Environmental Health (NCEH).   Date Released: 9/3/2013.

  2. Bioavailability of cadmium from infant diets in newborn rats

    International Nuclear Information System (INIS)

    Eklund, G.; Oskarsson, A.; Petersson Grawe, K.

    2001-01-01

    Infants are exposed to higher levels of cadmium (Cd) from infant and follow-on formulas than from breast milk. We studied the bioavailability of 109 CdCl 2 from cows' milk formula, soy formula, wheat/oat/milk formula, wholemeal/milk formula and water in 11-day-old rat pups. The pups received a single oral dose of one diet labelled with 109 Cd, 0.1 or 0.3 mg Cd/kg body weight. After 2 or 24 h or 4, 9 or 12 days the fractional retention of 109 Cd in the whole body, in segments of rinsed small intestine and in tissue was measured in a gamma counter. Pups receiving 109 Cd in water or cows' milk formula had the highest mean whole-body retention. It ranged from 67% of the dose in the water group to 52% in the wholemeal/milk formula group 4 days after dosing. The retention of 109 Cd in the rinsed small intestine was significantly higher in the water group and the cows' milk formula group than in the cereal-based formula groups at 24 h and 4 days after dosing. It was still high in all groups on day 9, ranging from 26 to 11%. Initially most of the 109 Cd was retained in the duodenum but by day 4 it had moved further down into the jejunum. In the liver, the highest and lowest retention on day 4 was 16 permille and 3 permille of the dose in the water group and wholemeal/milk formula group, respectively. In the kidney, 109 Cd was still increasing 12 days after exposure in all groups. Whole-body retention and tissue levels were higher than previously reported in adult animals. The lower bioavailability of 109 Cd from the cereal-based formulas compared to water and cows' milk formula on the longer survival times is most likely explained by Cd binding to dietary fibre and phytic acid in the cereal-based formulas reducing the intestinal binding and decreasing the bioavailability of Cd. The high retention of 109 Cd in the small intestine, leading to a prolonged absorption period, emphasizes the importance of extending studies on neonatal Cd absorption over a long time period in

  3. Bioavailability of cadmium from infant diets in newborn rats

    Energy Technology Data Exchange (ETDEWEB)

    Eklund, G.; Oskarsson, A. [Dept. of Pharmacology and Toxicology, Swedish University of Agricultural Sciences, Uppsala (Sweden); Petersson Grawe, K. [Toxicology Div., National Food Administration, Uppsala (Sweden)

    2001-11-01

    Infants are exposed to higher levels of cadmium (Cd) from infant and follow-on formulas than from breast milk. We studied the bioavailability of {sup 109}CdCl{sub 2} from cows' milk formula, soy formula, wheat/oat/milk formula, wholemeal/milk formula and water in 11-day-old rat pups. The pups received a single oral dose of one diet labelled with {sup 109}Cd, 0.1 or 0.3 mg Cd/kg body weight. After 2 or 24 h or 4, 9 or 12 days the fractional retention of {sup 109}Cd in the whole body, in segments of rinsed small intestine and in tissue was measured in a gamma counter. Pups receiving {sup 109}Cd in water or cows' milk formula had the highest mean whole-body retention. It ranged from 67% of the dose in the water group to 52% in the wholemeal/milk formula group 4 days after dosing. The retention of {sup 109}Cd in the rinsed small intestine was significantly higher in the water group and the cows' milk formula group than in the cereal-based formula groups at 24 h and 4 days after dosing. It was still high in all groups on day 9, ranging from 26 to 11%. Initially most of the {sup 109}Cd was retained in the duodenum but by day 4 it had moved further down into the jejunum. In the liver, the highest and lowest retention on day 4 was 16 permille and 3 permille of the dose in the water group and wholemeal/milk formula group, respectively. In the kidney, {sup 109}Cd was still increasing 12 days after exposure in all groups. Whole-body retention and tissue levels were higher than previously reported in adult animals. The lower bioavailability of {sup 109}Cd from the cereal-based formulas compared to water and cows' milk formula on the longer survival times is most likely explained by Cd binding to dietary fibre and phytic acid in the cereal-based formulas reducing the intestinal binding and decreasing the bioavailability of Cd. The high retention of {sup 109}Cd in the small intestine, leading to a prolonged absorption period, emphasizes the importance of

  4. Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

    NARCIS (Netherlands)

    van der Ploeg, C. P B; van den Akker-van Marle, M. E.; Vernooij-van Langen, A. M M; Elvers, L. H.; Gille, J. J P; Verkerk, P. H.; Dankert-Roelse, J. E.; Dankert-Roelse, J. E.; Vernooij-van Langen, A. M M; Loeber, J. G.; Elvers, L. H.; Triepels, R. H.; Gille, J. J P; Van der Ploeg, C. P B; van der Pal, S. M.; Dompeling, E.; Pals, G.; van den Akker van Marle, M. E.; Gulmans, V. A M; Oey-Spauwen, M. J W; Wijnands, Y. H H M; Castricum, L. M.; Arets, H. G M; van der Ent, C. K.; Tiddens, H. A W M; de Rijke, Y. B.; Yntema, J. B.

    2015-01-01

    Background: Previous cost-effectiveness studies using data from the literature showed that newborn screening for cystic fibrosis (NBSCF) is a good economic option with positive health effects and longer survival. Methods: We used primary data to compare cost-effectiveness of four screening

  5. Newborn screening healthcare information system based on service-oriented architecture.

    Science.gov (United States)

    Hsieh, Sung-Huai; Hsieh, Sheau-Ling; Chien, Yin-Hsiu; Weng, Yung-Ching; Hsu, Kai-Ping; Chen, Chi-Huang; Tu, Chien-Ming; Wang, Zhenyu; Lai, Feipei

    2010-08-01

    In this paper, we established a newborn screening system under the HL7/Web Services frameworks. We rebuilt the NTUH Newborn Screening Laboratory's original standalone architecture, having various heterogeneous systems operating individually, and restructured it into a Service-Oriented Architecture (SOA), distributed platform for further integrity and enhancements of sample collections, testing, diagnoses, evaluations, treatments or follow-up services, screening database management, as well as collaboration, communication among hospitals; decision supports and improving screening accuracy over the Taiwan neonatal systems are also addressed. In addition, the new system not only integrates the newborn screening procedures among phlebotomy clinics, referral hospitals, as well as the newborn screening center in Taiwan, but also introduces new models of screening procedures for the associated, medical practitioners. Furthermore, it reduces the burden of manual operations, especially the reporting services, those were heavily dependent upon previously. The new system can accelerate the whole procedures effectively and efficiently. It improves the accuracy and the reliability of the screening by ensuring the quality control during the processing as well.

  6. Physiological responses of preterm newborn infants submitted to classical music therapy.

    Science.gov (United States)

    da Silva, Camila Mendes; Cação, Jessica Marcelle R; Silva, Karin Cristina dos S; Marques, Cassia Fernandes; Merey, Leila Simone F

    2013-01-01

    To evaluate the physiological effects of music therapy on hospitalized preterm newborns. A noncontrolled clinical trial including 12 newborn infants with gestational age classical music therapy twice a day (morning and afternoon) for three consecutive days. The variables: heart and respiratory rates, oxygen saturation, diastolic and systolic arterial pressures, and body temperature were analyzed before and immediately after each music therapy session. There was a decrease in the heart rate after the second session of music therapy (paired t-test; p=0.002), and an increase at the end of the third session (paired t-test; p=0.005). Respiratory rate decreased during the fourth and fifth sessions (paired t-test; p=0.01 and 0.03, respectively). Regarding oxygen saturation, there was an increase after the fifth session (p=0.008). Comparison of physiological parameters among sessions, for the six studied sessions, showed only that the gain in oxygen saturation during the fifth session was significantly higher than during the sixth one (Tukey's test after variance analysis; p=0.04). Music therapy may modify short-term physiological responses of hospitalized preterm newborn infants.

  7. Newborn Bilirubin Screening for Preventing Severe Hyperbilirubinemia and Bilirubin Encephalopathy: A Rapid Review.

    Science.gov (United States)

    Bhardwaj, Kalpana; Locke, Tiffany; Biringer, Anne; Booth, Allyson; Darling, Elizabeth K; Dougan, Shelley; Harrison, Jane; Hill, Stephen; Johnson, Ana; Makin, Susan; Potter, Beth; Lacaze-Masmonteil, Thierry; Little, Julian

    2017-01-01

    According to the 2004 American Academy of Pediatrics guideline on the management of hyperbilirubinemia, every newborn should be assessed for the risk of developing severe hyperbilirubinemia with the help of predischarge total serum bilirubin or transcutaneous bilirubin measurements and/or assessments of clinical risk factors. The aim of this rapid review is 1) to review the evidence for 1) predicting and preventing severe hyperbilirubinemia and bilirubin encephalopathy, 2) determining the efficacy of home/community treatments (home phototherapy) in the prevention of severe hyperbilirubinemia, and 3) non-invasive/transcutaneous methods for estimating serum bilirubin level. In this rapid review, studies were identified through the Medline database. The main outcomes of interest were severe hyperbilirubinemia and encephalopathy. A subset of articles was double screened and all articles were critically appraised using the SIGN and AMSTAR checklists. This review investigated if systems approach is likely to reduce the occurrence of severe hyperbilirubinemia. Fifty-two studies met the inclusion criteria. Included studies assessed the association between bilirubin measurement early in neonatal life and the subsequent development of severe hyperbilirubinemia and chronic bilirubin encephalopathy/kernicterus. It was observed that, highest priority should be given to (i) universal bilirubin screening programs; (ii) implementation of community and midwife practice; (iii) outreach to communities for education of prospective parents; and (iv) development of clinical pathways to monitor, evaluate and track infants with severe hyperbilirubinemia. We found substantial observational evidence that severe hyperbilirubinemia can be accurately predicted and prevented through universal bilirubin screening. So far, there is no evidence of any harm. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  8. Expanded newborn screening in the Health Services of the Mexican Navy

    Directory of Open Access Journals (Sweden)

    Max Trigo-Madrid

    2014-11-01

    Full Text Available In Mexico the birth prevalence of the metabolic diseases detected by expanded newborn screening is poorly known and there is little information about its performance indicators.Objective. Describe the birth prevalence of the metabolic defects detected by the expanded newborn screening program implemented in the Mexican Navy (Secretaría de Marina Armada de México, SEMAR, and to make known some of its performance indicators. Materials and Methods. A blood sample of 5 205 newborns from 18 Mexican states were taken. The age at blood sampling, the proportion of samples taken between the 3rd and the 5th days of life, and the time of results delivery were analyzed. The number and type of detected metabolic diseases, as well as the maternal age and body mass index, the type of birth, the gestational age and weight of the newborns were analized. Results. The age at blood sampling was 4.7 days and 81.15 percent of the samples were obtained in optimal time. Two cases of congenital hypothyroidism (3.8/10 000 newborns, one of adrenal congenital hyperplasia (1.9/10 000 newborns and five cases of deficiency of glucose- 6-phosphate dehydrogenase (9.6/10 000 newborns were detected. The 85.6% of mothers had pregnancies at an optimal reproductive age (20-35 years, but overweight and obesity occurred in 44.7% of them. Conclusions. In this analyzed population, the birth prevalence of metabolic defects was 15.37/10 000 newborns. The expanded newborn screening program allowed its identification and timely treatment, with the aim of preventing disability and death.

  9. Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn Infants

    Directory of Open Access Journals (Sweden)

    Zohreh Kavehmanesh

    2010-07-01

    Full Text Available "nLeukocyte adhesion deficiency type 1 (LAD 1 is an autosomal recessive hereditary disorder resulting from deficiency of CD18, characterized by recurrent bacterial infections. We report two consanguineous patients with Leukocyte adhesion deficiency type 1( LAD1. These two infant boy patients were referred to us, within a short period of time, with the complaints of recurrent infections at the age of 38 and 75 days -old, respectively. Parents of two patients were first cousins and their grandmothers also were first cousins. The history of delayed umbilical cord separation was shown in both patients. Patient 1 had history of omphalitis, conjunctivitis, skin lesion of groin area and abscess formation of vaccination site, and had infective wound of eye-lid at the last admission. Patient 2 had history of omphalitis and soft tissue infection of right wrist at the last admission. Laboratory findings showed marked leukocytosis and low CD18 levels (6.6% in Patient 1 and 2.4 % in Patient 2. In Patient 1 recurrent infections were treated with antibiotic regimens and received bone marrow transplantation but Patient 2 died because of septicemia, generalized edema, ascites and progression to acute renal failure at 4 months of age. Due to considerable rate of consanguineous marriages in parents of Leukocyte adhesion deficiency patients, sequence analysis especially for prenatal diagnosis in subsequent pregnancies and genetic counseling is recommended.

  10. Sucrose for analgesia in newborn infants undergoing painful procedures.

    Science.gov (United States)

    Stevens, Bonnie; Yamada, Janet; Ohlsson, Arne; Haliburton, Sarah; Shorkey, Allyson

    2016-07-16

    heterogeneity by the I(2) test. We assessed the risk of bias of included trials using the Cochrane 'Risk of bias' tool, and assessed the quality of the evidence using the GRADE system. Seventy-four studies enrolling 7049 infants were included. Results from only a few studies could be combined in meta-analyses and for most analyses the GRADE assessments indicated low- or moderate-quality evidence. There was high-quality evidence for the beneficial effect of sucrose (24%) with non-nutritive sucking (pacifier dipped in sucrose) or 0.5 mL of sucrose orally in preterm and term infants: Premature Infant Pain Profile (PIPP) 30 s after heel lance WMD -1.70 (95% CI -2.13 to -1.26; I(2) = 0% (no heterogeneity); 3 studies, n = 278); PIPP 60 s after heel lance WMD -2.14 (95% CI -3.34 to -0.94; I(2) = 0% (no heterogeneity; 2 studies, n = 164). There was high-quality evidence for the use of 2 mL 24% sucrose prior to venipuncture: PIPP during venipuncture WMD -2.79 (95% CI -3.76 to -1.83; I(2) = 0% (no heterogeneity; 2 groups in 1 study, n = 213); and intramuscular injections: PIPP during intramuscular injection WMD -1.05 (95% CI -1.98 to -0.12; I(2) = 0% (2 groups in 1 study, n = 232). Evidence from studies that could not be included in RevMan-analyses supported these findings. Reported adverse effects were minor and similar in the sucrose and control groups. Sucrose is not effective in reducing pain from circumcision. The effectiveness of sucrose for reducing pain/stress from other interventions such as arterial puncture, subcutaneous injection, insertion of nasogastric or orogastric tubes, bladder catherization, eye examinations and echocardiography examinations are inconclusive. Most trials indicated some benefit of sucrose use but that the evidence for other painful procedures is of lower quality as it is based on few studies of small sample sizes. The effects of sucrose on long-term neurodevelopmental outcomes are unknown. Sucrose is effective for reducing procedural pain from single

  11. Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital

    Directory of Open Access Journals (Sweden)

    Consuelo Cantú-Reyna MD

    2016-09-01

    Full Text Available Newborn screening for the detection of inborn errors of metabolism (IEM, endocrinopathies, hemoglobinopathies, and other disorders is a public health initiative aimed at identifying specific diseases in a timely manner. Mexico initiated newborn screening in 1973, but the national incidence of this group of diseases is unknown or uncertain due to the lack of large sample sizes of expanded newborn screening (ENS programs and lack of related publications. The incidence of a specific group of IEM, endocrinopathies, hemoglobinopathies, and other disorders in newborns was obtained from a Mexican hospital. These newborns were part of a comprehensive ENS program at Ginequito (a private hospital in Mexico, from January 2012 to August 2014. The retrospective study included the examination of 10 000 newborns’ results obtained from the ENS program (comprising the possible detection of more than 50 screened disorders. The findings were the following: 34 newborns were confirmed with an IEM, endocrinopathies, hemoglobinopathies, or other disorders and 68 were identified as carriers. Consequently, the estimated global incidence for those disorders was 3.4 in 1000 newborns; and the carrier prevalence was 6.8 in 1000. Moreover, a 0.04% false-positive rate was unveiled as soon as diagnostic testing revealed negative results. The most frequent diagnosis was glucose-6-phosphate dehydrogenase deficiency; and in the case of carriers, it was hemoglobinopathies. The benefit of the ENS is clear as it offers prompt treatment on the basis of an early diagnosis including proper genetic counseling. Furthermore, these results provide a good estimation of the frequencies of different forms of newborn IEM, endocrinopathies, hemoglobinopathies, and other disorders at Ginequito.

  12. Utility of newborn screening cards for detecting CMV infection in cases of stillbirth.

    Science.gov (United States)

    Howard, Jonathan; Hall, Beverley; Brennan, Lyndall Eve; Arbuckle, Susan; Craig, Maria E; Graf, Nicole; Rawlinson, William

    2009-03-01

    CMV infection may cause intrauterine deaths including stillbirths (intrauterine deaths at > or =20 weeks gestation). In 2005, there were 1979 stillbirths in Australia, which is almost double the number of deaths reported for all children between 1 and 14 years age. We evaluated the diagnostic utility of testing for the presence of CMV in newborn blood screening cards (NBSC) collected from stillborn babies, who had no known cause of death after post-mortem. Blood taken at post-mortem by cardiac puncture of 107 stillborn babies between July 2005 and December 2006, was spotted onto NBSC. CMV infection was detected using nested PCR targeting the glycoprotein gene, gp58. Of the 107 stillborn infants, 10 (9%) were CMV positive. The rate of CMV infection did not differ between early stillbirths (8%) and late stillbirths (9%). The use of NBSC is a convenient and accurate method for CMV detection in stillbirths. It is easily collected, less laborious than viral culture, diagnostically useful and could be applied for epidemiological and retrospective investigation of the virus in the stillbirth population.

  13. Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay

    Directory of Open Access Journals (Sweden)

    Mary T. Bausch-Jurken

    2017-06-01

    Full Text Available Infants born with T cell lymphopenias, especially severe combined immunodeficiency (SCID are at risk for serious, often fatal infections without intervention within the first year or two of life. The majority of these disorders can be detected through the use of the T cell recombination excision circle assay (TREC assay. The TREC assay detects the presence of non-replicating, episomal DNA that is formed during T cell development. This assay initially developed to measure thymic output during aging and HIV infection, has undergone modifications for the purpose of newborn screening (NBS for SCID. To meet the requirements for inclusion on NBS panels, the assay needed to utilize blood from dried blood spots on NBS cards, and be both sensitive and specific, avoiding the costs of false positives. Currently, the assay relies upon real time, quantitative PCR (RT-qPCR to detect TRECs in punches taken from dried blood spots. This review seeks to highlight some of the early work leading up to the initial implementation of the TREC assay for SCID detection, and the subsequent revisions made to optimize the assay.

  14. Complete rooming-in care of newborn infants

    Directory of Open Access Journals (Sweden)

    Yoo Min Lee

    2010-05-01

    Full Text Available Purpose : In Kyung Hee East-West Neo Medical Center, Seoul,Korea, efforts to raise rooming-in care success rate have been undertaken since when the hospital was established in 2006. We intended to analyze our experience over the past 3 years of period and to discuss the advantages of rooming-in. Methods : We analyzed the rooming-in practice rate, failure rate, and the breast feeding rate. Subjects were 860 normal healthy neonates from June 2006 to June 2009. Results: Among these 860 cases, 83 babies were required separation out of rooming-in in the middle of the course. Among these 83 cases, 70 cases had to stop the course due to poor condition of babies and 13 cases due to maternal condition. 70 cases of infant’s causes consist of 68 cases of NICU admission and 2 cases of poor feeding support. The other 13 cases of separation include refusal by maternal condition. Therefore the success rate of rooming-in for the last 3 years was 90.3%, that is 777 cases among the total 860 cases. The percentage of exclusive breast feeding was 64%, that of mixed feeding with breast and formula feeding was 25%, and formula feeding only was 11%. Conclusion : We experienced successful rooming-in care for the last 3 years. Nursery facilities should educate and encourage the advantages of rooming-in, including the good formation of attachment between mother and infant, emotional stability, protection from infection, and increased breast feeding rate so that rooming-in care can be fully established.

  15. Obstetric antecedents to body-cooling treatment of the newborn infant.

    Science.gov (United States)

    Nelson, David B; Lucke, Ashley M; McIntire, Donald D; Sánchez, Pablo J; Leveno, Kenneth J; Chalak, Lina F

    2014-08-01

    Obstetric antecedents were analyzed in births in which the infant received whole-body cooling for neonatal encephalopathy. This retrospective cohort study included all live-born singleton infants delivered at or beyond 36 weeks' gestation from October 2005 through December 2011. Infants who had received whole-body cooling identified by review of a prospective neonatal registry were compared with a control group comprising the remaining obstetric population delivered at greater than 36 weeks but not cooled. Univariable analysis was followed up by a staged, stepwise selection of variables with the intent to rank significant risk factors for cooling. A total of 86,371 women delivered during the study period and 98 infants received whole-body cooling (1.1 per 1000 live births). Of these 98 infants, 80 newborns (88%) had moderate encephalopathy and 10 (12%) had severe encephalopathy prior to cooling. Maternal age of 15 years or younger, low parity, maternal body habitus (body mass index of ≥40 kg/m(2)), diabetes, preeclampsia, induction, epidural analgesia, chorioamnionitis, length of labor, and mode of delivery were associated with significantly increased risk of infant cooling during a univariable analysis. Catastrophic events to include umbilical cord prolapse (odds ratio [OR], 14; 95% confidence interval [CI], 3-72), placental abruption (OR, 17; 95% CI, 7-44), uterine rupture (OR, 130; 95% CI, 11-1477) were the strongest factors associated with infant cooling after staged-stepwise logistic analysis. A variety of intrapartum characteristics were associated with infant cooling for neonatal encephalopathy, with the most powerful antecedents being umbilical cord prolapse, placental abruption, and uterine rupture. Copyright © 2014 Mosby, Inc. All rights reserved.

  16. The status of newborn infants born to women with hypertensive disorders

    Directory of Open Access Journals (Sweden)

    N. A. Shakhbazova

    2014-01-01

    Full Text Available The status of 239 newborn infants born to mothers with hypertensive syndrome (a study group and that of 51 neonates from healthy mothers (a control group were analyzed. Neonatal mortality and morbidity rates were studied in relation to gestational age and the type and severity of hypertensive disorders. Hypertensive disorders in pregnancy were found to lead to still birth in 2,1% of cases, late miscarriage in 12,1%, prematurity in 47,7%, and intrauterine growth retardation in 27,6%. The incidence of diseases in the infants born to hypertensive mothers was 6,6 times higher than that in those from healthy mothers. The most common nosological entities among the newborn infants were intracranial hemorrhage (29,3%, respiratory distress syndrome (20,1%, hypoxic-ischemic brain damage (22,6%, polycythemia (8,4%, and hyperbihrubinemia (8,8%. Reproductive losses in hypertensive disorders accounted for 17,2% and occurred in 70,7% of cases in the early postnatal period. Severe pathology and prematurity are responsible for high neonatal morbidity and mortality rates.

  17. Trends in Scottish newborn screening programme for congenital hypothyroidism 1980-2014: strategies for reducing age at notification after initial and repeat sampling.

    Science.gov (United States)

    Mansour, Chourouk; Ouarezki, Yasmine; Jones, Jeremy; Fitch, Moira; Smith, Sarah; Mason, Avril; Donaldson, Malcolm

    2017-10-01

    To determine ages at first capillary sampling and notification and age at notification after second sampling in Scottish newborns referred with elevated thyroid-stimulating hormone (TSH). Referrals between 1980 and 2014 inclusive were grouped into seven 5-year blocks and analysed according to agreed standards. Of 2 116 132 newborn infants screened, 919 were referred with capillary TSH elevation ≥8 mU/L of whom 624 had definite (606) or probable (18) congenital hypothyroidism. Median age at first sampling fell from 7 to 5 days between 1980 and 2014 (standard 4-7 days), with 22, 8 and 3 infants sampled >7 days during 2000-2004, 2005-2009 and 2010-2014. Median age at notification was consistently ≤14 days, range falling during 2000-2004, 2005-2009 and 2010-2014 from 6 to 78, 7-52 and 7-32 days with 12 (14.6%), 6 (5.6%) and 5 (4.3%) infants notified >14 days. However 18/123 (14.6%) of infants undergoing second sampling from 2000 onwards breached the ≤26-day standard for notification. By 2010-2014, the 91 infants with confirmed congenital hypothyroidism had shown favourable median age at first sample (5 days) with start of treatment (10.5 days) approaching age at notification. Most standards for newborn thyroid screening are being met by the Scottish programme, but there is a need to reduce age range at notification, particularly following second sampling. Strategies to improve screening performance include carrying out initial capillary sampling as close to 96 hours as possible; introducing 6-day laboratory reporting and use of electronic transmission for communicating repeat requests. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  18. Proceedings: regional lung function in the newborn infant assessed by means of 133Xe

    Energy Technology Data Exchange (ETDEWEB)

    Koch, G.

    1975-01-01

    Regional distribution of ventilation and perfusion was assessed in 14 normal newborn infants and in some with respiratory distress (RDS) using a gamma camera computer system and /sup 133/Xe as tracer. The normal infants were at ages when R-L shunting through fetal channels is mainly abolished but minor L-R shunting through the ductes arteriosus still may occur. In the normal infant, distribution of ventilation and perfusion is nearly identical to that in the adult. The disappearance constants after inhalation (ventilated areas) and injection (perfused areas) are high indicating great efficiency of ventilation. This finding of high ventilatory efficiency is in accordance with direct measurements of alveolar ventilation. Despite the high efficiency, however, its distribution even in the normal infant is suprisingly uneven. The most important data is the ventilation/perfusion ratio which shows, as in the adult, relative hyperperfusion basically, while relative hyperventilation in the upper parts is less pronounced than in the adult. During RDS, uneven ventilation and perfusion distribution is much more pronounced. Another striking feature is the low ventilatory efficiency, a finding in agreement with PaCO/sub 2/ data indicating alveolar hypoventilation. Repeated studies in the same infant have demonstrated striking differences in corresponding distribution data between different studies despite similar clinical conditions suggesting that the degree of regional contribution to the overall function disturbance may vary considerably in the course of the disease.

  19. Gastric emptying patterns of a liquid meal in newborn infants, measured by epigastric impedance

    DEFF Research Database (Denmark)

    Lange, Aksel; Funch-Jensen, Peter; Thommesen, Peter

    1997-01-01

    time (T50) was calculated. For mature infants it was found to be 6.9 mins. For a second meal given within an hour after the first meal the half emptying time was 5.5 mins (p times were not significant different from mature infants, but the number examined was small......  Epigastric impedance was used to measure patterns of the gastric emptying of a liquid non-caloric meal (5 ml water/kg) in newborn infants. The emptying patterns consisted of two components, theemptying signal - the DC component - and a phasic 3 cycle per minutes (CPM) signal - the AC component.......A periodic change of the impedance signal, the phasic 3 CPM signal, was observed after a meal in 24 of the infants. The median frequency was 3.03 CPM in 20 mature and 2.93 CPM in 4 preterminfants. In 9 infants a phasic 3 CPM signal was observed during fasting state. The median frequency was 2.9 CPM...

  20. Devastating metabolic brain disorders of newborns and young infants.

    Science.gov (United States)

    Yoon, Hyun Jung; Kim, Ji Hye; Jeon, Tae Yeon; Yoo, So-Young; Eo, Hong

    2014-01-01

    Metabolic disorders of the brain that manifest in the neonatal or early infantile period are usually associated with acute and severe illness and are thus referred to as devastating metabolic disorders. Most of these disorders may be classified as organic acid disorders, amino acid metabolism disorders, primary lactic acidosis, or fatty acid oxidation disorders. Each disorder has distinctive clinical, biochemical, and radiologic features. Early diagnosis is important both for prompt treatment to prevent death or serious sequelae and for genetic counseling. However, diagnosis is often challenging because many findings overlap and may mimic those of more common neonatal conditions, such as hypoxic-ischemic encephalopathy and infection. Ultrasonography (US) may be an initial screening method for the neonatal brain, and magnetic resonance (MR) imaging is the modality of choice for evaluating metabolic brain disorders. Although nonspecific imaging findings are common in early-onset metabolic disorders, characteristic patterns of brain involvement have been described for several disorders. In addition, diffusion-weighted images may be used to characterize edema during an acute episode of encephalopathy, and MR spectroscopy depicts changes in metabolites that may help diagnose metabolic disorders and assess response to treatment. Imaging findings, including those of advanced MR imaging techniques, must be closely reviewed. If one of these rare disorders is suspected, the appropriate biochemical test or analysis of the specific gene should be performed to confirm the diagnosis. ©RSNA, 2014.

  1. Auditory Screening in Infants for Early Detection of Permanent ...

    African Journals Online (AJOL)

    and acquired hearing loss in newborns and children can lead to deficiencies and ... neonatal intensive care unit, pre-maturity and birth weight less than 1,500 g. .... outer, middle and inner ear, and lower auditory pathway. These screening ...

  2. A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness.

    Science.gov (United States)

    Burton, Sarah K; Withrow, Kara; Arnos, Kathleen S; Kalfoglou, Andrea L; Pandya, Arti

    2006-12-01

    Progress in identifying genes for deafness together with implementation of universal audiologic screening of newborns has provided the opportunity for more widespread use of molecular tests to detect genetic forms of hearing loss. Efforts to assess consumer attitudes toward these advances have lagged behind. Consumer focus groups were held to explore attitudes toward genetic advances and technologies for hearing loss, views about newborn hearing screening, and reactions to the idea of adding molecular screening for hearing loss at birth. Focus group discussions were recorded, transcribed and analyzed. Five focus groups with 44 participants including hearing parents of deaf children, deaf parents and young deaf adults were held. Focus group participants supported the use of genetic tests to identify the etiology of hearing loss but were concerned that genetic information might influence reproductive decisions. Molecular newborn screening was advocated by some; however, others expressed concern about its effectiveness. Documenting the attitudes of parents and other consumers toward genetic technologies establishes the framework for discussions on the appropriateness of molecular newborn screening for hearing loss and informs specialists about potential areas of public education necessary prior to the implementation of such screening.

  3. Cost-benefit analysis: newborn screening for inborn errors of metabolism in Lebanon.

    Science.gov (United States)

    Khneisser, I; Adib, S; Assaad, S; Megarbane, A; Karam, P

    2015-12-01

    Few countries in the Middle East-North Africa region have adopted national newborn screening for inborn errors of metabolism by tandem mass spectrometry (MS/MS). We aimed to evaluate the cost-benefit of newborn screening for such disorders in Lebanon, as a model for other developing countries in the region. Average costs of expected care for inborn errors of metabolism cases as a group, between ages 0 and 18, early and late diagnosed, were calculated from 2007 to 2013. The monetary value of early detection using MS/MS was compared with that of clinical "late detection", including cost of diagnosis and hospitalizations. During this period, 126000 newborns were screened. Incidence of detected cases was 1/1482, which can be explained by high consanguinity rates in Lebanon. A reduction by half of direct cost of care, reaching on average 31,631 USD per detected case was shown. This difference more than covers the expense of starting a newborn screening programme. Although this model does not take into consideration the indirect benefits of the better quality of life of those screened early, it can be argued that direct and indirect costs saved through early detection of these disorders are important enough to justify universal publicly-funded screening, especially in developing countries with high consanguinity rates, as shown through this data from Lebanon. © The Author(s) 2015.

  4. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.

    Science.gov (United States)

    Niu, Dau-Ming; Chien, Yin-Hsiu; Chiang, Chuan-Chi; Ho, Hui-Chen; Hwu, Wuh-Liang; Kao, Shu-Min; Chiang, Szu-Hui; Kao, Chuan-Hong; Liu, Tze-Tze; Chiang, Hung; Hsiao, Kwang-Jen

    2010-10-01

    In Taiwan, during the period March 2000 to June 2009, 1,495,132 neonates were screened for phenylketonuria (PKU) and homocystinuria (HCU), and 1,321,123 neonates were screened for maple syrup urine disease (MSUD), methylmalonic academia (MMA), medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency, isovaleric academia (IVA), and glutaric aciduria type 1 (GA-1) using tandem mass spectrometry (MS/MS). In a pilot study, 592,717 neonates were screened for citrullinemia, 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) and other fatty acid oxidation defects in the MS/MS newborn screening. A total of 170 newborns and four mothers were confirmed to have inborn errors of metabolism. The overall incidence was approximately 1/5,882 (1/6,219 without mothers). The most common inborn errors were defects of phenylalanine metabolism [five classic PKU, 20 mild PKU, 40 mild hyperphenylalaninemia (HPA), and 13 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency]. MSUD was the second most common amino acidopathy and, significantly, most MSUD patients (10/13) belonged to the Austronesian aboriginal tribes of southern Taiwan. The most frequently detected among organic acid disorders was 3-MCC deficiency (14 newborns and four mothers). GA-1 and MMA were the second most common organic acid disorders (13 and 13 newborns, respectively). In fatty acid disorders, five carnitine transport defect (CTD), five short-chain acyl-CoA dehydrogenase deficiency (SCAD), and two medium-chain acyl-CoA dehydrogenase (MCAD) deficiency were confirmed. This is the largest case of MS/MS newborn screening in an East-Asian population to date. We hereby report the incidences and outcomes of metabolic inborn error diseases found in our nationwide MS/MS newborn screening program.

  5. Radiation dose estimates for adults and newborns from tungsten-178: based on distribution data in adult and infant animals

    International Nuclear Information System (INIS)

    Wiles, H.; Lacy, J.; LeBlanc, A.; Bricker, J.; Watson, E.; Stabin, M.

    1987-01-01

    Biodistribution and retention of tungsten-178 ( 178 W) were studied in adult and infant animals in order to extrapolate radiation dose estimates to human newborns and adults. Whole body retention and organ distribution of 178 W were determined at 0.5, 2, 8, 24 and 48 hours after blood-pool injection in infant and adult rats. Percent whole body retention and percent organ uptake per gram of tissue were higher in infant than adult rats at each time interval. When extrapolated to humans on the basis of percent injected activity kilogram per gram, most organs, except bone and kidney, showed higher uptake in newborns than adults. Total body radiation dose estimates for humans from 178 w based on these data were: 0.93 mGy/MBq (3.4 rad/mCi) for newborns and 0.024 mGy/MBq (0.089 rad/mCi) for adults. 13 refs.; 5 tabs

  6. [Results from ten years newborn hearing screening in a secondary hospital].

    Science.gov (United States)

    Sequi Canet, José Miguel; Sala Langa, Maria José; Collar Del Castillo, José Ignacio

    2016-10-01

    A critical analysis is performed on the results of a newborn hearing screening program in a regional hospital. Screening results from 14,247 newborns in our maternity ward from 2002 to 2013. Two step recordings of bilateral otoacoustic emissions (initial and repeat, if failed, at about one month of life). Assessment by clinical brainstem responses. The first step was performed on 14,015 newborns (98.3% of the total) reaching the screening objective. The first step pass figures were 93.7%, which implies a good pass rate with a few patients to repeat. The second step is also good because it has a pass rate of 88.9% of newborns examined (only 0.63% of initial group needed brainstem responses assessment), but 10.6% were lost to follow up, and that is a major problem. In newborns, scheduled for brainstem responses, the loss to follow-up is worse, with a figure of 29.5%, despite the high accuracy of this test given that 69.4% of those assessed showed hearing loss. This figure represents a 0.31% of the initial group, and is a similar to that published for congenital hearing loss. Including patients that were lost to follow up this figure could be greater. Newborn hearing screening is useful but needs stronger control to avoid the follow up loss. In order to achieve this, it is crucial to have a good database and a screening coordinator. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Web-based newborn screening system for metabolic diseases: machine learning versus clinicians.

    Science.gov (United States)

    Chen, Wei-Hsin; Hsieh, Sheau-Ling; Hsu, Kai-Ping; Chen, Han-Ping; Su, Xing-Yu; Tseng, Yi-Ju; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lai, Feipei

    2013-05-23

    A hospital information system (HIS) that integrates screening data and interpretation of the data is routinely requested by hospitals and parents. However, the accuracy of disease classification may be low because of the disease characteristics and the analytes used for classification. The objective of this study is to describe a system that enhanced the neonatal screening system of the Newborn Screening Center at the National Taiwan University Hospital. The system was designed and deployed according to a service-oriented architecture (SOA) framework under the Web services .NET environment. The system consists of sample collection, testing, diagnosis, evaluation, treatment, and follow-up services among collaborating hospitals. To improve the accuracy of newborn screening, machine learning and optimal feature selection mechanisms were investigated for screening newborns for inborn errors of metabolism. The framework of the Newborn Screening Hospital Information System (NSHIS) used the embedded Health Level Seven (HL7) standards for data exchanges among heterogeneous platforms integrated by Web services in the C# language. In this study, machine learning classification was used to predict phenylketonuria (PKU), hypermethioninemia, and 3-methylcrotonyl-CoA-carboxylase (3-MCC) deficiency. The classification methods used 347,312 newborn dried blood samples collected at the Center between 2006 and 2011. Of these, 220 newborns had values over the diagnostic cutoffs (positive cases) and 1557 had values that were over the screening cutoffs but did not meet the diagnostic cutoffs (suspected cases). The original 35 analytes and the manifested features were ranked based on F score, then combinations of the top 20 ranked features were selected as input features to support vector machine (SVM) classifiers to obtain optimal feature sets. These feature sets were tested using 5-fold cross-validation and optimal models were generated. The datasets collected in year 2011 were used as

  8. Newborn jaundice - discharge

    Science.gov (United States)

    ... Biliary atresia Bili lights Bilirubin blood test Bilirubin encephalopathy Exchange transfusion Jaundice and breastfeeding Newborn jaundice Premature infant Rh incompatibility Patient Instructions Newborn ...

  9. [Developmental parameters and vitality of newborn infants in the period 1991-2002 in the health centre in Subotica].

    Science.gov (United States)

    Durković, Jasmina; Pavlović, Mirjana

    2005-01-01

    Infants having a birth weight of 2500 g or less are known as low birth weight infants. There are multiple factors which affect the nutritional status of newborn children: genetic potential, maternal age, parity, maternal health and maternal nutrition, drugs, alcohol, smoking, geographical situation and socioeconomic living conditions. Developmental parameters were analyzed in 15,455 live newborn infants in Subotica, from 1991 to 2002. The following parameters were registred: body mass in the first hour of life, body length, head and thorax circumference. These parameters were examined and correlated with other indicators of maturity and vitality, such as gestational age and Apgar score values. Parameter mean values are presented for each year from 1991 to 2002. Mean body mass values ranged from 3335.74 g in 1991 to 3418.01 g in 1998. Compared with the estimates provided by World Health Organization, the percentage of newborn infants with birth weight under 2500 g has increased (5.64%) in 1991, which was the first year of war and sanctions in our country. From 1994 to 1997, there was a war in neighbouring republics and a huge number of refugees from war regions arrived. The percentage of newborn infants with low birth weight has increased (the gratest percentage 5.08% has been found in 1996). During 1999, our country was bombed and since then, we have an increased number of newborn infants with low birth weight (4.46% were registred in 1999 to 5.22% in 2002). The number of children born before 37th week of gestation is greatest in 2000 (3.17%). Average Apgar score in 1992 was (9.20), showing graduate decrease since 1999, with lowest value during 2001 (8.85). Harmful environmental factors can strongly affect fetal growth. Continual follow-up of developmental parameters and vitality of infants on populatin level is an index of interactions between genetic potential and environmental factors, pointing to quality of health care and preventive services.

  10. Severe hemolytic disease of fetus and newborn caused by red blood cell antibodies undetected at first-trimester screening (CME).

    Science.gov (United States)

    Dajak, Slavica; Stefanović, Vedran; Capkun, Vesna

    2011-07-01

    The objective was to determine clinical consequences of anti-D and non-D antibodies undetected at first-trimester screening for infant or fetus. This retrospective cohort study included all pregnant women with red blood cell (RBC) antibodies who were tested between 1993 and 2008. Data were obtained from the forms for tracking immunization at the transfusion department. Each form was analyzed for three data sets: the order of screening at which the antibodies were detected (initial or repeated screening), the order of pregnancy (first pregnancy or higher), and whether the antibodies caused severe hemolytic disease of fetus and newborn (HDFN). In D- women, anti-D was detected in 1.3% of cases. The anti-D was undetected in 72 (37%) cases on the first-trimester screening, of which eight cases were complicated by severe HDFN. In this group, three patients were primigravidae. An overall non-D incidence of 0.2% was observed. In 16 cases, non-D were undetected on the first-trimester screening (10 anti-c, two anti-E, two anti-C, one anti-S, and one case of anti-Rh17). Non-D antibodies undetected on initial screening caused 11 cases of severe HDFN (27% of all severe non-D HDFN). Ten of them were in multiparous women. Seven of 11 cases with severe HDFN that were missed were caused by anti-c. The third-trimester screening may detect RBC antibodies that were not present or detected on the first-trimester screening. Such screening may be especially relevant in D+ multiparous women due to the risk of HDFN. © 2010 American Association of Blood Banks.

  11. [Ganciclovir therapy for congenital cytomegalovirus infection in newborn infants: a meta analysis].

    Science.gov (United States)

    Hu, Jin-Tao; Chen, Ping-Yang; Xie, Zong-De; Dang, Xi-Qiang; Wang, Tao; He, Xiao-Ri; Li, Wen; Bo, Tao

    2010-01-01

    To evaluate the efficacy and safety of ganciclovir therapy for congenital cytomegalovirus (CMV) infection in newborn infants. The randomized controlled trials (RCTs) and quasi-RCTs on ganciclovir therapy for congenital CMV were reviewed in the following electronic databases: PubMed (January 1988 to January 2009), EMbase (January 1988 to January 2009), the Cochrane library (Issue 3, 2003 and Issue 1, 2009), the Chinese Journals Full-text Database (January 1994 to January 2009), the Chinese Biological Medical Disc (January 1994 to January 2009) and the Chinese Medical Current Contents (January 1994 to January 2009). Quality assessment, data extraction, and meta analysis were performed. Ten papers were included. Meta analysis showed that the ganciclovir therapy increased the improvement rate (91.4% vs 34.0%; pCMV infection indexes to become negative in more patients (87.6% vs 15.3%; pCMV infection indexes becoming negative, and decrease incidence of hearing disturbance, with few side effects, in newborn infants with CMV infection. However the supporting evidence is not strong due to few trials and more high-quality research is needed.

  12. Analysis of risk factors for hydrocephalus development in newborn infants with germinal matrix hemorrhage.

    Science.gov (United States)

    Romero, L; Ros, B; Arráez, M A; Ríus, F; González, L; Martín, A; Carrasco, A; Segura, M

    2015-10-01

    The aim of this study was to analyze risk factors for the development of hydrocephalus in newborn infants with germinal matrix (GM) hemorrhage. The study comprised 271 patients admitted to Carlos Haya University Hospital in Malaga with GM hemorrhage. The following data were recorded: gestational age, gender, twin birth, head circumference at birth, weight at birth, and Papile grade. Severe obstetrical (abruption, chorioamnionitis, pregnancy-induced hypertension, tocolytic treatment) and neonatal disorders (respiratory distress syndrome, neonatal infection, coagulation disorder, patent ductus arteriosus, necrotizing enterocolitis) were also recorded. Symptomatic hydrocephalus was diagnosed in the event of a progressive increase in head circumference and ventricular indices requiring shunting. Of the 271 patients, 139 (51%) developed posthemorrhagic ventriculomegaly; 47 patients (17%) developed symptomatic hydrocephalus and needed shunt implantation. We found a significant relationship between the development of symptomatic hydrocephalus and Papile grade, lower gestational age, lower birth weight, twin birth, and neonatal infection. Awareness of risk factors for the development of hydrocephalus in newborn infants with GM hemorrhage should be emphasized in order to enable an early diagnosis of ventriculomegaly and symptomatic hydrocephalus and thus make a correct therapeutic decision.

  13. Referential values of certain roentgenometric indices of the humerus diaphysis in newborn infants

    International Nuclear Information System (INIS)

    Georgieva, P.G.; Georgiev, I.G.

    1985-01-01

    A roentgenometric study was made on two indicies of the humerus diaphysis in the corpses of newborn infants: 1) the transverse diameter of the medullar canal in the centre of the diaphysis after Svadkovski; 2) the transverse diameter of the diaphysis at the level of the same bone after Spencer. The statistical processing of the data established had to take into consideration the fact that Gauss's distribution is not often found in biological indices. This complicates the determination of referntial values. That is why a combined method was applied which was worked out by the authors and ensures orderliness and precision. A similar mathematical-statistical apparatus has not been used by other authors. The studies made and the processing of the data obtained contribute to the following inferences on the transverse diameter of the medullar canal in the centre of the humerus diaphysis and the transverse diameter of the diaphysis at the same level of the same bone in newborn infants: 1) their referential values have Gauss's distribution; 2) sex dimorphism does not exist as an objective law; 3) their referential intervals have been determined

  14. Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France

    OpenAIRE

    Hamers, Françoise F; Rumeau-Pichon, Catherine

    2012-01-01

    Abstract Background Five diseases are currently screened on dried blood spots in France through the national newborn screening programme. Tandem mass spectrometry (MS/MS) is a technology that is increasingly used to screen newborns for an increasing number of hereditary metabolic diseases. Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is among these diseases. We sought to evaluate the cost-effectiveness of introducing MCADD screening in France. Methods We developed a decision model t...

  15. Neonatal facial coding system scores and spectral characteristics of infant crying during newborn circumcision.

    Science.gov (United States)

    Lehr, Victoria Tutag; Zeskind, Philip Sanford; Ofenstein, John P; Cepeda, Eugene; Warrier, Indulekha; Aranda, J V

    2007-06-01

    To determine the relations between Neonatal Facial Coding System (NFCS) scores and measures of infant crying during newborn circumcision. Video and audio recordings were made of infant facial activity and cry sounds, respectively, during the lysis phase of circumcisions of 44 healthy term males (analgesia before circumcision. NFCS scores were determined by blinded assistant from video recordings of facial activity. Measures of infant crying were determined via spectrum analysis of audio recordings by a blinded, independent researcher. Pearson product-moment correlations were used to examine relationship between NFCS scores and measures of crying. Principal component factor analysis detected dimensions underlying related measures of crying. Factor scores from a factor analysis were used in stepwise linear regression to predict NFCS scores. Higher NFCS scores correlated with lower peak fundamental frequency of crying (P<0.01) and with higher amplitudes of crying at peak fundamental frequency and dominant frequency and in overall cry sample (P<0.01). The factor analysis showed 3 significant orthogonal dimensions underlying measures of crying: Power and Velocity (amplitude and rapidity), Pitch of Crying (frequency characteristics), and Infant Arousal (turbulence and intensity) accounting for 42.3%, 17.8%, and 14.6% of variance, respectively. A regression analysis showed all 3 factor scores accounted for significant and separate portions of variance (P<0.001). The best predictor of NFCS score was Power and Velocity (P<0.002), followed by Infant Arousal (P<0.002), and Pitch of Crying (P<0.007). These data provide some of the first known evidence linking specific measures of infant crying with an independent, validated measure of pain.

  16. A new measure for infant mental health screening

    DEFF Research Database (Denmark)

    Ammitzbøll, Janni; Holstein, Bjorn E.; Wilms, Lisbeth

    2016-01-01

    by community health nurses (CHN) in existing service settings in Denmark. This study was conducted to describe the development of a service setting based measure to screen for infant mental health problems, to investigate problems identified by the measure and assess the validity and feasibility in existing......Background: Mental health problems are a major public health challenges, and strategies of early prevention are needed. Effective prevention depends on feasible and validated measures of screening and intervention. Previous research has demonstrated potentials for infant mental health screening...... and feasibility was demonstrated, and the participation was 91%. Conclusions:The new measure shows potentials for infant mental health screening. However, further exploration of construct validity and reliability is needed....

  17. Permissive hypercapnia for the prevention of morbidity and mortality in mechanically ventilated newborn infants.

    Science.gov (United States)

    Woodgate, P G; Davies, M W

    2001-01-01

    Experimental animal data and uncontrolled, observational studies in human infants have suggested that hyperventilation and hypocapnia may be associated with increased pulmonary and neurodevelopmental morbidity. Protective ventilatory strategies allowing higher levels of arterial CO2 (permissive hypercapnia) are now widely used in adult critical care. The aggressive pursuit of normocapnia in ventilated newborn infants may contribute to the already present burden of lung disease. However, the safe or ideal range for PCO2 in this vulnerable population has not been established. To assess whether, in mechanically ventilated neonates, a strategy of permissive hypercapnia improves short and long term outcomes (esp. mortality, duration of respiratory support, incidence of chronic lung disease and neurodevelopmental outcome). Standard strategies of the Cochrane Neonatal Review Group were used. Searches were made of the Oxford Database of Perinatal Trials, MEDLINE, CINAHL, and Current Contents. Searches were also made of previous reviews including cross-referencing, abstracts, and conference and symposia proceedings published in Pediatric Research. All randomised controlled trials in which a strategy of permissive hypercapnia was compared with conventional strategies aimed at achieving normocapnia (or lower levels of hypercapnia) in newborn infants who are mechanically ventilated were eligible. Standard methods of the Cochrane Neonatal Review Group were used. Trials identified by the search strategy were independently reviewed by each author and assessed for eligibility and trial quality. Data were extracted separately. Differences were compared and resolved. Additional information was requested from trial authors. Only published data were available for review. Results are expressed as relative risk and risk difference for dichotomous outcomes, and weighted mean difference for continuous variables. Two trials involving 269 newborn infants were included. Meta-analysis of

  18. A three-year follow-up of congenital adrenal hyperplasia newborn screening.

    Science.gov (United States)

    Pezzuti, Isabela L; Barra, Cristina B; Mantovani, Rafael M; Januário, José N; Silva, Ivani N

    2014-01-01

    congenital adrenal hyperplasia (CAH) newborn screening can prevent neonatal mortality in children with the salt-wasting form of the disease and prevent incorrect gender assignments, which can occur in females. However, the occurrence of false-positive results in preterm or low-birth-weight newborns creates some diagnostic difficulties, with consequent therapeutic implications. This study aimed to report the results of a pilot project for neonatal CAH screening conducted in the state of Minas Gerais, Brazil from 09/2007 to 05/2008 with a three-year follow-up. dried blood specimens were collected on filter paper cards three to seven days after birth of all newborns in the period. Samples were analyzed for 17-hydroxyprogesterone using an enzyme-linked immunosorbent assay (ELISA). a total of 159,415 children were screened. The apparent incidence of the classic variant of the disease was 1:9,963, based on initial diagnoses following newborn screening. During the follow-up period, eight of 16 children initially diagnosed with CAH were reclassified as unaffected, resulting in a revised incidence of 1:19,927. The false-positive rate was 0.31%, and the positive predictive value was 2.1%. Sensitivity and specificity were 100% and 99.7%, respectively. newborn screening is an important public health policy in developing countries such as Brazil, where CAH remains underdiagnosed. It has great potential to identify children with the disease who otherwise cannot be diagnosed earlier. Long-term follow-up and monitoring of all children with positive screening results are crucial to ensure a correct diagnosis and to calculate a reliable incidence ratio of the disease. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  19. Newborn hearing screening with transient evoked otoacoustic emissions and automatic auditory brainstem response

    Directory of Open Access Journals (Sweden)

    Renata Mota Mamede de Carvallo

    2008-09-01

    Full Text Available Objective: The aim of the present investigation was to check Transient Evoked Otoacoustic Emissions and Automatic Auditory Brainstem Response tests applied together in regular nurseries and Newborn Intensive Care Units (NICU, as well as to describe and compare the results obtained in both groups. Methods: We tested 150 newborns from regular nurseries and 70 from NICU. Rresults: The newborn hearing screening results using Transient Evoked Otoacoustic Emissions and Automatic Auditory Brainstem Response tests could be applied to all babies. The “pass” result for the group of babies from the nursery was 94.7% using Transient Evoked Otoacoustic Emissions and 96% using Automatic Auditory Brainstem Response. The newborn intensive care unit group obtained 87.1% on Transient Evoked Otoacoustic Emissions and 80% on the Automatic Auditory Brainstem Response, and there was no statistical difference between the procedures when the groups were evaluated individually. However, comparing the groups, Transient Evoked Otoacoustic Emissions were presented in 94.7% of the nursery babies and in 87.1% in the group from the newborn intensive care unit. Considering the Automatic Auditory Brainstem Response, we found 96 and 87%, respectively. Cconclusions: Transient Evoked Otoacoustic Emissions and Automatic Auditory Brainstem Response had similar “pass” and “fail” results when the procedures were applied to neonates from the regular nursery, and the combined tests were more precise to detect hearing impairment in the newborn intensive care unit babies.

  20. Screening for seemingly healthy newborns with congenital cytomegalovirus infection by quantitative real-time polymerase chain reaction using newborn urine: an observational study.

    Science.gov (United States)

    Yamaguchi, Akira; Oh-Ishi, Tsutomu; Arai, Takashi; Sakata, Hideaki; Adachi, Nodoka; Asanuma, Satoshi; Oguma, Eiji; Kimoto, Hirofumi; Matsumoto, Jiro; Fujita, Hidetoshi; Uesato, Tadashi; Fujita, Jutaro; Shirato, Ken; Ohno, Hideki; Kizaki, Takako

    2017-01-20

    Approximately 8-10% of newborns with asymptomatic congenital cytomegalovirus (cCMV) infection develop sensorineural hearing loss (SNHL). However, the relationship between CMV load, SNHL and central nervous system (CNS) damage in cCMV infection remains unclear. This study aimed to examine the relationship between urinary CMV load, SNHL and CNS damage in newborns with cCMV infection. The study included 23 368 newborns from two maternity hospitals in Saitama Prefecture, Japan. Urine screening for cCMV infection (quantitative real-time PCR) and newborn hearing screening (automated auditory brainstem response (AABR) testing) were conducted within 5 days of birth to examine the incidence of cCMV infection and SNHL, respectively. CNS damage was assessed by MRI of cCMV-infected newborns. The incidence of cCMV infection was 60/23 368 (0.257%; 95% CI 0.192% to 0.322%). The geometric mean urinary CMV DNA copy number in newborns with cCMV was 1.79×10 6 copies/mL (95% CI 7.97×10 5 to 4.02×10 6 ). AABR testing revealed abnormalities in 171 of the 22 229 (0.769%) newborns whose parents approved hearing screening. Of these 171 newborns, 22 had SNHL (12.9%), and 5 of these 22 were infected with cCMV (22.7%). Newborns with both cCMV and SNHL had a higher urinary CMV DNA copy number than newborns with cCMV without SNHL (p=0.036). MRI revealed CNS damage, including white matter abnormalities, in 83.0% of newborns with cCMV. Moreover, newborns with CNS damage had a significantly greater urinary CMV load than newborns without CNS damage (p=0.013). We determined the incidence of cCMV infection and urinary CMV DNA copy number in seemingly healthy newborns from two hospitals in Saitama Prefecture. SNHL and CNS damage were associated with urinary CMV DNA copy number. Quantification of urinary CMV load may effectively predict the incidence of late-onset SNHL and neurodevelopmental disorders. Published by the BMJ Publishing Group Limited. For permission to use (where not already

  1. Initial results from the newborn hearing screening programme in Ireland.

    LENUS (Irish Health Repository)

    O'Connor, A

    2013-03-02

    INTRODUCTION: Hearing screening programmes aim to detect hearing loss in the neonate. The Health Service Executive (HSE) South was the first phase of a national roll-out of a neonatal hearing screening programme in Ireland, going live on 28 April 2011. RESULTS: Over 11,738 babies have been screened for permanent childhood hearing impairment (PCHI) during the first 12 months. The percentage of eligible babies offered hearing screening was 99.2 %. Only 0.2 % (n = 25) of those offered screening declined. 493 (4 %) were referred for immediate diagnostic audiological assessment. The average time between screen and diagnostic audiology appointment was 2 weeks. 15 (1.3\\/1,000) babies have been identified with a PCHI over the 12-month period. 946 (4 %) babies screened were admitted to the neonatal intensive care unit (NICU) for >48 h. The prevalance of PCHI is 7.3\\/1,000 in the NICU population compared to 0.6\\/1000 in the well baby population. 214 (1.8 % of total babies screened) had a clear response in the screening programmes, but were deemed to be at risk of an acquired childhood hearing impairment. These babies will be reassessed with a diagnostic audiology appointment at 8-9 months of age. To date, there is one case of acquired hearing impairment through this targeted follow-up screen. Of the 15 cases of PCHI identified, 8 (53 %) of these had one or more risk factors for hearing loss and 7 (37 %) were admitted to the NICU for >48 h. Four babies were referred for assessment at the National Cochlear Implant Centre.

  2. Infant Imitation from Television Using Novel Touch Screen Technology

    Science.gov (United States)

    Zack, Elizabeth; Barr, Rachel; Gerhardstein, Peter; Dickerson, Kelly; Meltzoff, Andrew N.

    2009-01-01

    Infants learn less from a televised demonstration than from a live demonstration, the "video deficit effect." The present study employs a novel approach, using touch screen technology to examine 15-month olds' transfer of learning. Infants were randomly assigned either to within-dimension (2D/2D or 3D/3D) or cross-dimension (3D/2D or 2D/3D)…

  3. Objective assessment of induced acute pain in neonatology with the Newborn Infant Parasympathetic Evaluation index.

    Science.gov (United States)

    Cremillieux, C; Makhlouf, A; Pichot, V; Trombert, B; Patural, H

    2018-01-25

    Objective tools are needed to improve pain assessment in newborns. The aim of this study was to assess the correlation between the Newborn Infant Parasympathetic Evaluation (NIPE) index and two pain scales during a painful procedure in premature infants. Each baby born at least at 26 weeks of gestational age (GA) undergoing a planned painful procedure in the Neonatal Intensive Care Unit (NICU) was eligible. NIPE index, heart rate variability (HRV) indices and Neonatal Acute Pain scale (DAN) were recorded across three periods: the first at rest 5 min before the painful procedure (T1), the second during it (T2) and the third 3 min after the end of it (T3). The Premature Infant Pain Profile-Revised (PIPP-R) pain scale was recorded at T2. Sixty-four recordings were performed in 29 preterm infants (mean GA = 29.9 ± 4.2 weeks). Twenty-eight tachograms were coupled to NIPE for analysis. We did not find a correlation between the NIPE index and DAN and PIPP-R at the pain time T2. Between T1 and T2, heart rate was higher (159 ± 16 vs. 169 ± 12, p < 0.001). Considering the linear HRV indices, we did not observe a modification in parasympathetic or sympathetic activity, while for the nonlinear HRV indices (H exponent, Approximate and conditional Entropy), a significant change towards a loss of physiological chaotic cardiac behaviour was detected. The NIPE index seems to be not reliable to assess acute pain in the preterm infant, but other HRV indices could be explored as additional tools next to pain scales in NICUs. The NIPE monitor was developed for objective pain assessment in neonates based on HFnu variations, but it does not seem reliable enough for assessing acute pain in real time in preterm neonates. Pain assessment in preterm babies still relies on pain scales. © 2018 European Pain Federation - EFIC®.

  4. The use of ultrasonography in pediatric ophthalmology - diagnostics of ophthalmic disorders in newborns and infants

    International Nuclear Information System (INIS)

    Modrzejewska, M.; Karczewicz, D.; Wilk, G.

    2006-01-01

    Ultrasonographic (US) examinations in ophthalmology play a major role as one of the additional examination modes in the diagnostics of orbital diseases, and in cases of changes of a vascular origin it is useful in the evaluation of blood flow velocity. The special value of this examination in the assessment of the opaque optical structures on the fundus of the eye is emphasized. The aim of the study was 1) to present the ultrasonographic images and the efficacy of the method in the evaluation of some congenital and acquired bulbar diseases and 2) on the bases of the advantages of the examination, to determine whether ultrasonography could be included as a screening method in the diagnostics of preterm infants as well as a method of choice in term infants with ophthalmologic diseases. One thousand sixty-two children between the ages of 3 weeks to 12 months, of whom 1135 were preterm and 27 term infants, with ophthalmologic changes were examined. A real-time ultrasonographic apparatus with color Doppler (5-7.5 MHz sectoral and 7.5-10 MHz linear transducers). The US examinations of preterm infants were conducted four times and in term infants twice. In 105 children (8.99%) and in 184 eyes, premature retinopathy, intra-bulbar tumors, retinal ablation, posttraumatic changes, inflammatory processes in the posterior chamber of the eyeball, and congenital anomalies of the bulbar structures were diagnosed. Bulbar ultrasonography, being a safe, quick, and efficient examination, should be included as an additional screening method in preterm infants. Ultrasonography with color Doppler is an efficient method of choice for diagnosing problematic diseases of the eyeballs of infants. (author)

  5. Assessment of the feasibility and coverage of a modified universal hearing screening protocol for use with newborn babies of migrant workers in Beijing.

    Science.gov (United States)

    Qi, Beier; Cheng, Xiaohua; En, Hui; Liu, Bo; Peng, Shichun; Zhen, Yong; Cai, Zhenghua; Huang, Lihui; Zhang, Luo; Han, Demin

    2013-08-08

    Although migrant workers account for the majority of newborns in Beijing, their children are less likely to undergo appropriate universal newborn hearing screening/rescreening (UNHS) than newborns of local non-migrant residents. We hypothesised that this was at least in part due to the inadequacy of the UNHS protocol currently employed for newborn babies, and therefore aimed to modify the protocol to specifically reflect the needs of the migrant population. A total of 10,983 healthy babies born to migrant mothers between January 2007 and December 2009 at a Beijing public hospital were investigated for hearing abnormalities according to a modified UNHS protocol. This incorporated two additional/optional otoacoustic emissions (OAE) tests at 24-48 hours and 2 months after birth. Infants not passing a screening test were referred to the next test, until any hearing loss was confirmed by the auditory brainstem response (ABR) test. A total of 98.91% (10983/11104) of all newborn children underwent the initial OAE test, of which 27.22% (2990/10983) failed the test. 1712 of the failed babies underwent the second inpatient OAE test, with739 failing again; thus significantly decreasing the overall positive rate for abnormal hearing from 27.22% to 18.36% ([2990-973 /10983)]; p = 0). Overall, 1147(56.87%) babies underwent the outpatient OAE test again after1-month, of whom 228 failed and were referred for the second outpatient OAE test (i.e. 2.08% (228/10983) referral rate at 1month of age). 141 of these infants underwent the referral test, of whom 103 (73.05%) tested positive again and were referred for a final ABR test for hearing loss (i.e. final referral rate of 1.73% ([228-38/10983] at 2 months of age). Only 54 infants attended the ABR test and 35 (0.32% of the original cohort tested) were diagnosed with abnormal hearing. Our study shows that it is feasible and practical to achieve high coverage rates for screening hearing loss and decrease the referral rates in

  6. [Universal cytomegalovirus infection screening in premature newborns less than 1500 g].

    Science.gov (United States)

    Botet, F; Figueras Aloy, J; Álvarez, E; de Alba, C; Dorronsolo, I; Echaniz Urcelay, I; Rite, S; Moreno, J; Fernández Lorenzo, J R; Herranz Carrillo, G; Salguero, E; Sánchez Luna, M

    2014-10-01

    Cytomegalovirus (CMV) infection is endemic, and children who attend day care are the most important source of infection. To establish recommendations based on the medical evidence on the vertical transmission of cytomegalovirus in preterm infants weighing less than 1500g at birth. Infection in pregnant women may be primary or secondary. Although there is fetal infection, 85% of newborn infants are asymptomatic. Symptoms of infection include low birth weight, hepatosplenomegaly, thrombocytopenia, microcephaly and neurological disorders. The prognosis of symptomatic children is very poor, with high mortality and neurological disorders. The virus can be reactivated during breast feeding, and early infection is possible through breast milk, probably with little impact in term infants, although the long-term neurological outcome worsens in preterm infants. The diagnostic method of choice is the identification of CMV in urine; the determination in the first two weeks of life suggests congenital infection; later it can be acquired at birth or through breast milk or contaminated blood transfusion. Determine viral DNA at 4-6 weeks of life by protease chain reaction. If it is positive, monitoring of samples from the first days of life and breast milk are mandatory. This should allow the newborn to be classified into three states: "Without CMV infection", "Congenital CMV infection", "Acquired CMV infection". Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  7. Prevention of Vitamin K Deficiency Bleeding in Newborn Infants: A Position Paper by the ESPGHAN Committee on Nutrition

    NARCIS (Netherlands)

    Mihatsch, Walter A.; Braegger, Christian; Bronsky, Jiri; Campoy, Cristina; Domellöf, Magnus; Fewtrell, Mary; Mis, Nataša F.; Hojsak, Iva; Hulst, Jessie; Indrio, Flavia; Lapillonne, Alexandre; Mlgaard, Christian; Embleton, Nicholas; van Goudoever, Johannes

    2016-01-01

    Vitamin K deficiency bleeding (VKDB) due to physiologically low vitamin K plasma concentrations is a serious risk for newborn and young infants and can be largely prevented by adequate vitamin K supplementation. The aim of this position paper is to define the condition, describe the prevalence,

  8. Effects of antiretroviral agents during pregnancy on liver enzymes and amylase in HIV-exposed, uninfected newborn infants

    Directory of Open Access Journals (Sweden)

    Patrícia El Beitune

    Full Text Available This study assessed the effect of antiretroviral drugs administered to pregnant women on amylase and liver enzymes of the neonate. A prospective study was conducted on 52 neonates divided into three groups: infants born to HIV-infected mothers taking zidovudine (ZDV group, n = 18, infants born to mothers taking zidovudine + lamivudine + nelfinavir (TT group, n = 22 and infants born to normal women (control group, n = 12. Umbilical cord blood from the newborn infant was used to determine liver transaminases and amylase. Data were analyzed statistically by nonparametric tests, with the level of significance set at p<0.05. The median levels for TT group newborns were 33.3 U/L for oxaloacetic transaminase, 21.5 U/L for pyruvic transaminase, 1.9 mg/dL for total bilirubin, 153 mg/dL for alkaline phosphatase, and 9.6 U/L for amylase. These results did not differ from those obtained for Control newborns or newborns exposed to ZDV alone. No association was observed between the use of antiretroviral drugs during pregnancy and adverse effects on neonatal amylase and hepatic parameters at birth.

  9. Bacterial meningitis in newborn and infant: correlation between organism, CT findings and clinical outcome

    International Nuclear Information System (INIS)

    Choi, Hye Young; Park, Young Seo; Yoo, Shi Joon; Suh, Dae Chul; Chung, Young Kyo

    1993-01-01

    Acute bacterial meningitis often results in significant neurologic complications regardless of the antibiotics treatment Computed tomographic (CT) finding of tuberculous meningitis is fairly well known but not the findings of bacterial meningitis. This study was performed to determine the incidence of causative organisms and to correlate between the organisms and computed tomographic (CT) findings with clinical outcome of bacterial meningitis in newborns and infants. We analyzed the brain CT and clinical records of 15 infants who had been diagnosed as bacterial meningitis by CSF culture. We found that the most common organisms were Group B streptococcus in neonates without no neurologic complications in all but one and Hemophilus influenza in infants whose clinical outcomes were poor in all except one. CT findings related with poor prognosis in this study were cerebral edema, basal cisternal obliteration and enhancement, and cerebral infarction on initial CT and ventriculomegaly on follow-up CT. We concluded that CT diagnosed intracranial complications of bacterial meningitis well and could contributed to better treatment of bacterial meningitis

  10. VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

    DEFF Research Database (Denmark)

    Boneh, A; Andresen, Brage Storstein; Gregersen, Niels

    2006-01-01

    samples taken at age 48-72 h were diagnostic whereas repeat samples at an older age were normal in 4/6 babies. Urine analysis was normal in 5/5. We conclude that the timing of blood sampling for newborn screening is important and that it is important to perform mutation analysis to avoid false......-negative diagnoses of VLCADD in asymptomatic newborn babies. In view of the emerging genotype-phenotype correlation in this disorder, the information derived from mutational analysis can be helpful in designing the appropriate follow-up and therapeutic regime for these patients....

  11. High-throughput assay of 9 lysosomal enzymes for newborn screening.

    Science.gov (United States)

    Spacil, Zdenek; Tatipaka, Haribabu; Barcenas, Mariana; Scott, C Ronald; Turecek, Frantisek; Gelb, Michael H

    2013-03-01

    There is interest in newborn screening of lysosomal storage diseases (LSDs) because of the availability of treatments. Pilot studies have used tandem mass spectrometry with flow injection of samples to achieve multiplex detection of enzyme products. We report a multiplexing method of 9 enzymatic assays that uses HPLC-tandem mass spectrometry (MS/MS). The assay of 9 enzymes was carried out in 1 or 2 buffers with a cassette of substrates and internal standards and 1 or 2 punches of a dried blood spot (DBS) from a newborn screening card as the source of enzymes. The pre-HPLC-MS/MS sample preparation required only 4 liquid transfers before injection into a dual-column HPLC equipped with switching valves to direct the flow to separation and column equilibration. Product-specific and internal standard-specific ion fragmentations were used for MS/MS quantification in the selected reaction monitoring mode. Analysis of blood spots from 58 random newborns and lysosomal storage disease-affected patients showed that the assay readily distinguished affected from nonaffected individuals. The time per 9-plex analysis (1.8 min) was sufficiently short to be compatible with the workflow of newborn screening laboratories. HPLC-MS/MS provides a viable alternative to flow-injection MS/MS for the quantification of lysosomal enzyme activities. It is possible to assay 9 lysosomal enzymes using 1 or 2 reaction buffers, thus minimizing the number of separate incubations necessary.

  12. Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

    Directory of Open Access Journals (Sweden)

    Kejian Guo

    2018-04-01

    Full Text Available The incidence of inborn errors of metabolisms (IEMs varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs. Thirty mutations in nine IEMs-associated genes were identified in 28 confirmed cases. As 19 cases with the mutations in phenylalanine hydroxylase (PAH, solute carrier family 22 member 5 (SLC22A5, and methylmalonic aciduria (cobalamin deficiency cblC type with homocystinuria (MMACHC genes, respectively, it suggested that mutations in the PAH, SLC22A5, and MMACHC genes are the predominant causes of IEMs, leading to the high incidence of phenylketonuria, primary carnitine deficiency, and methylmalonic acidemia, respectively. Our work indicated that the overall incidence of IEMs is high and the mutations in PAH, SLC22A5, and MMACHC genes are the leading causes of IEMs in Jining area. Therefore, it is critical to increase the coverage of expanded newborn screening by MS/MS and prenatal genetic consulting in Jining area.

  13. Newborn screening for congenital adrenal hyperplasia in Cuba: six years of experience.

    Science.gov (United States)

    González, Ernesto Carlos; Carvajal, Frank; Frómeta, Amarilys; Arteaga, Ana Luisa; Castells, Elisa María; Espinosa, Tania; Coto, Remigio; Pérez, Pedro Lucio; Tejeda, Yileidis; Del Río, Lesley; Segura, Mary Triny; Almenares, Pedro; Robaina, René; Fernández, José Luis

    2013-06-05

    Since 2005, a newborn screening program for congenital adrenal hyperplasia (CAH) by measuring 17-alpha-hydroxyprogesterone (17OHP) in dried blood spots was introduced in Cuba. The hormone was measured by the 17OHP Neonatal UMELISA method, in samples collected on the 5th day as average. Confirmatory test was performed to those neonates with 17OHP values above 55 nmol/l. Some perinatal factors that can influence on 17OHP levels were studied. From January 2005 to December 2010, 621,303 newborns were screened and 39 CAH cases were detected. Coverage of the program reached 98%. The incidence of CAH in Cuba was 1:15,931, similar to that reported by other programs. A recall for suspected CAH was performed in 10,799 cases (1.74%). Therapy in classical CAH patients was started at the mean age of 22 days. 17OHP levels were significantly higher in newborns with lower birth-weight (BW) and/or gestational age (GA). In addition, 17OHP values were affected by the gender, twin status or mode of delivery. In Cuba, the nationwide newborn screening program has allowed the early detection of CAH. The use of an optimized cut-off level for BW or GA could lead to a reduction in the percentage of recalled babies. Copyright © 2013 Elsevier B.V. All rights reserved.

  14. Effects of Diagnosis by Newborn Screening for Cystic Fibrosis on Weight and Length in the First Year of Life.

    Science.gov (United States)

    Leung, Daniel H; Heltshe, Sonya L; Borowitz, Drucy; Gelfond, Daniel; Kloster, Margaret; Heubi, James E; Stalvey, Michael; Ramsey, Bonnie W

    2017-06-01

    Since the implementation of universal newborn screening (NBS) for cystic fibrosis (CF), the timing and magnitude of growth deficiency or its association with correlates of disease among infants with CF who underwent NBS has not been well described. To examine incremental weight gain, linear growth, and clinical features in the first year of life among infants with CF who underwent NBS. The Baby Observational and Nutrition Study (BONUS), a multicenter, longitudinal, observational cohort study, was conducted during regular CF clinic visits in the first 12 months of life at 28 US Cystic Fibrosis Foundation-accredited Care Centers from January 7, 2012, through May 31, 2015. Participants included 231 infants younger than 3.5 months who underwent NBS and had confirmed CF, with a gestational age of at least 35 weeks, birth weight of at least 2.5 kg, and toleration of full oral feeds. Of these, 222 infants (96.1%) had follow-up beyond 6 months of age and 215 (93.1%) completed 12 months of follow-up. Cystic fibrosis. Attained weight and length for age and World Health Organization normative z scores at ages 1 to 6 and 8, 10, and 12 months (defined a priori). Of the 231 infants enrolled, 110 infants (47.6%) were female and 121 (52.4%) were male, with a mean (SD) age of 2.58 (0.69) months. BONUS infants had lower than mean birth weights (mean z score, -0.15; 95% CI, -0.27 to -0.04) and higher birth lengths (mean z score, 0.44; 95% CI, 0.26 to 0.62). They achieved normal weight by 12 months, a significant improvement over a prescreening cohort of newborns with CF from 20 years before the contemporary cohort (mean z score increase, 0.57; 95% CI, 0.37-0.77). However, length was lower than the mean at 12 months (mean z score, -0.56; 95% CI, -0.70 to -0.42). Only 30 infants (13.6%) were at less than the 10th percentile of weight for age, whereas 53 (23.9%) were at less than the 10th percentile of length for age at more than half their visits. Male sex, pancreatic insufficiency

  15. Hepatitis B maternal screening, infant vaccination, and infant prophylaxis practices in North Carolina.

    Science.gov (United States)

    Pierce, R L; Smith, S; Rowe-West, B; Sterritt, B

    1999-06-01

    To determine if the Advisory Committee on Immunization Practices hepatitis B screening, vaccination, and prophylaxis recommendations were being followed in North Carolina, and to establish a baseline hepatitis B seroprevalence rate. A survey of mother and infant birthing facility medical records. Four birthing facilities selected from each of the 7 districts in North Carolina (a total of 28 facilities). A probability proportional to size survey design was used to select 4763 mother-infant record pairs. All records came from the 1996 birth cohort. Maternal hepatitis B screening status, infant vaccination status, infants prophylaxis status, hepatitis B seroprevalence rate, demographic and clinical predictors for maternal infection, failure to receive prenatal care or for whom status was unknown, failure to screen, and failure to vaccinate. Ninety-two percent of pregnant women were screened for hepatitis B surface antigen. Eighty-six percent of infants received dose 1 of the hepatitis B vaccine. Four of the 9 infants with mothers who were hepatitis B surface antigen-positive did not receive both vaccine and hepatitis B immune globulin. The hepatitis B seroprevalence rate was 0.2%. Mothers who were not screened for infection were 3.4 times more likely to have infants who were not vaccinated. White mothers were twice as likely not to have their child vaccinated as mothers of other races. Not all infants with hepatitis B-infected mothers were receiving vaccine and hepatitis B immune globulin as recommended. Seroprevalence of hepatitis B infection may be lower in North Carolina than in other states. Hepatitis B laboratory test results should be included in every mother's medical record.

  16. Dipstick screening for urinary tract infection in febrile infants.

    Science.gov (United States)

    Glissmeyer, Eric W; Korgenski, E Kent; Wilkes, Jacob; Schunk, Jeff E; Sheng, Xiaoming; Blaschke, Anne J; Byington, Carrie L

    2014-05-01

    This study compares the performance of urine dipstick alone with urine microscopy and with both tests combined as a screen for urinary tract infection (UTI) in febrile infants aged 1 to 90 days. We queried the Intermountain Healthcare data warehouse to identify febrile infants with urine dipstick, microscopy, and culture performed between 2004 and 2011. UTI was defined as >50 000 colony-forming units per milliliter of a urinary pathogen. We compared the performance of urine dipstick with unstained microscopy or both tests combined ("combined urinalysis") to identify UTI in infants aged 1 to 90 days. Of 13 030 febrile infants identified, 6394 (49%) had all tests performed and were included in the analysis. Of these, 770 (12%) had UTI. Urine culture results were positive within 24 hours in 83% of UTIs. The negative predictive value (NPV) was >98% for all tests. The combined urinalysis NPV was 99.2% (95% confidence interval: 99.1%-99.3%) and was significantly greater than the dipstick NPV of 98.7% (98.6%-98.8%). The dipstick positive predictive value was significantly greater than combined urinalysis (66.8% [66.2%-67.4%] vs 51.2% [50.6%-51.8%]). These data suggest 8 febrile infants would be predicted to have a false-positive combined urinalysis for every 1 infant with UTI initially missed by dipstick screening. Urine dipstick testing compares favorably with both microscopy and combined urinalysis in febrile infants aged 1 to 90 days. The urine dipstick test may be an adequate stand-alone screen for UTI in febrile infants while awaiting urine culture results. Copyright © 2014 by the American Academy of Pediatrics.

  17. Comparison of Newborn Hearing Screening in Well-Baby Nursery and NICU: A Study Applied to Reduce Referral Rate in NICU.

    Science.gov (United States)

    Li, Pei-Chun; Chen, Wei-I; Huang, Chih-Ming; Liu, Ching-Ju; Chang, Hsiu-wen; Lin, Hung-Ching

    2016-01-01

    To determine whether newborn hearing screening in a well-baby nursery (WBN) and neonatal intensive care unit (NICU) nursery: 1) meet three targeted, screening, referral, and diagnostic follow-up rates; 2) compare the average age of diagnosis for infants admitted to the WIN and NICU; and 3) determine prevalence of hearing loss in neonatal population; and 4) try to find a practical newborn hearing screening time algorithm to reduce refer rate in NICU. It examined 15,624 newborns in the WBN (13,676) and NICU (1948) screened for congenital HL using AABR. The variables analyzed in it were the screening rate, referral rate, follow-up rate, diagnostic rate and diagnostic age, prevalence rate, degrees of congenital bilateral HL. The study was approved by the hospital's institutional review board (13MMHISO23). The screening rates were 99.8% and 99.6% in the WBN and NICU groups, respectively, without significant difference. The referral rates were 0.7% and 2.8% in the WBN and NICU groups, with significant difference. Furthermore, the diagnostic follow-up rates were 76.7% and 89.1% in the WBN and NICU groups, without significant difference. The average initial diagnostic ages were 1.9 months and 3.8 months in the WBN and NICU groups, with significant difference. The prevalence of congenital bilateral hearing loss were 0.27% and 1.6% in the WBN and NICU groups, with significant difference. The screening, referral and follow-up rate in the WBN and NICU groups were equivalent to the quality indicators. For NICU group, screening and diagnostic follow up were performed later than those in WBN group; however the lower referral rate in our NICU group was successfully achieved in this study and can be applied clinically. The prevalence of congenital bilateral hearing loss was higher in the NICU group than in the WBN group.

  18. Elevated phenylalanine on newborn screening: follow-up testing may reveal undiagnosed galactosaemia.

    Science.gov (United States)

    Shakespeare, Lynette; Downing, Melanie; Allen, Joyce; Casbolt, Ann-Marie; Ellin, Sheila; Maloney, Martin; Race, Gillian; Bonham, Jim

    2010-11-01

    Introduction Newborn screening for phenylketonuria (PKU) can reveal other conditions which lead to an increased blood spot phenylalanine (Phe) concentration. We have investigated the proportion of blood spot samples that gave a positive screen due to clinically significant conditions other than PKU, compared the positive predictive value (PPV) of our referral Phe cut-off with that recommended by the UK Newborn Screening Programme Centre (UKNSPC) (>210 and >240 μmol/L, respectively) and evaluated the effectiveness of reflex testing for galactosaemia using a lower blood spot Phe cut-off concentration of 130 μmol/L. All blood spot samples that screened positive, for an increased Phe concentration, between April 2001 and March 2008, were identified from the records of the Sheffield Newborn Screening Laboratory and the diagnoses noted. In addition, all cases of galactosaemia detected in or notified to our screening laboratory within this time were also examined and the screened Phe concentrations compared. Out of 438,674 babies who were screened, 67 had Phe concentration >210 μmol/L (15 per 100,000). Of these, 40 had PKU or persistent hyperphenylalaninaemia with a Phe concentration identified by screening between 270 and 2350 μmol/L. A further 11 were diagnosed with another clinically significant disorder: galactosaemia (n = 8), biopterin defects (n = 2), tyrosinaemia Type 1 (n = 1). In addition, 16 had transient elevations in Phe. In total, nine cases of galactosaemia were identified, of whom, three had Phe concentrations 240 μmol/L) will not affect the detection rate of classical PKU, but will improve the PPV from 76% to 80%. The use of a lower cut-off (130 μmol/L) for reflex galactosaemia testing enables the timely identification of asymptomatic cases that benefit particularly from early treatment, without prompting any unnecessary clinical referrals or delaying any referrals. This intervention may reduce mortality in this vulnerable group.

  19. Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I

    Directory of Open Access Journals (Sweden)

    MCH Janssen

    2014-06-01

    Full Text Available We report three adult sibs (one female, two males with symptomatic glutaric acidura type I, who were diagnosed after a low carnitine level was found by newborn screening in a healthy newborn of the women. All three adults had low plasma carnitine, elevated glutaric acid levels and pronounced 3-hydroxyglutaric aciduria. The diagnosis was confirmed by undetectable glutaryl-CoA dehydrogenase activity in lymphocytes and two pathogenic heterozygous mutations in the GCDH gene (c.1060A>G, c.1154C>T. These results reinforce the notion that abnormal metabolite levels in newborns may lead to the diagnosis of adult metabolic disease in the mother and potentially other family members.

  20. [Renal response to intravenous administration of sodium bicarbonate in newborn infants of different gestational ages].

    Science.gov (United States)

    Jasso-Gutiérrez, L; Araujo, B; Fuse-Moteji, R; del Castillo, E D

    1976-01-01

    The study comprised a series of 16 neonates made up of 5 patients of 33 weeks of gestation, 5 infants of 35 weeks and 6 more of 40 weeks of gestation. Blood pH, PaCO2 and HCO3- were measured together with bicarbonate, ammonium, titrable acidity and hydrogen ions in urine before and after intravenous infusion of sodium bicarbonate. Before infusion of bicarbonate, titrable acidity, ammonium and net acidity in urine were higher in accordance with a greater gestational age. As the administration of bicarbonate elapsed, titrable acidity, ammonium and net acidity dropped with increase in concentration of bicarbonate. A hypothesis is set forth that the differences found in the factors evaluated in urine before administration of bicarbonate depend on the physiologic characteristics set in the newborn by gestational age.

  1. The Methodology of Doppler-Derived Central Blood Flow Measurements in Newborn Infants

    Directory of Open Access Journals (Sweden)

    Koert A. de Waal

    2012-01-01

    Full Text Available Central blood flow (CBF measurements are measurements in and around the heart. It incorporates cardiac output, but also measurements of cardiac input and assessment of intra- and extracardiac shunts. CBF can be measured in the central circulation as right or left ventricular output (RVO or LVO and/or as cardiac input measured at the superior vena cava (SVC flow. Assessment of shunts incorporates evaluation of the ductus arteriosus and the foramen ovale. This paper describes the methodology of CBF measurements in newborn infants. It provides a brief overview of the evolution of Doppler ultrasound blood flow measurements, basic principles of Doppler ultrasound, and an overview of all used methodology in the literature. A general guide for interpretation and normal values with suggested cutoffs of CBFs are provided for clinical use.

  2. Desferrioxamine treatment of iron overload secondary to RH isoimmunization and intrauterine transfusion in a newborn infant.

    Science.gov (United States)

    Yalaz, Mehmet; Bilgin, Betül Siyah; Köroğlu, Ozge Altun; Ay, Yılmaz; Arıkan, Ciğdem; Sagol, Sermet; Akısü, Mete; Kültürsay, Nilgün

    2011-11-01

    Intrauterine transfusion is the standard of care in the management of severe Rh isoimmunization. Desferrioxamine has been used for the treatment of iron overload secondary to hemolysis and intrauterine transfusions in Rh isoimmunization cases. Here, we report a preterm infant born at 34 weeks of gestational age who had formerly received intrauterine transfusions for Rhesus hemolytic disease and presented with severe hyperferritinemia and elevated liver enzymes in the first week of life. Desferrioxamine treatment was started due to a ferritin level of 28,800 ng/ml and continued for 13 weeks. Although the treatment was successful, we observed resistant leukopenia which resolved after the cessation of treatment. In conclusion, iron overload secondary to intrauterine transfusions can be treated successfully with desferrioxamine; however, neonatologists must be aware of the possible side effects of this drug which has been used in only a limited number of newborns.

  3. Significant decrease in congenital malformations in newborn infants of an unselected population of diabetic women

    DEFF Research Database (Denmark)

    Damm, P; Mølsted-Pedersen, L

    1989-01-01

    In an unselected and consecutive series of 1858 newborn infants of diabetic mothers, born in the Rigshospital, Copenhagen, in the period 1967 to 1986, congenital malformations were studied. The malformation rate in White Classes B to F was remarkably constant from 1967 to 1981, but a significant...... decrease in major congenital malformations was found in the period 1982 to 1986 versus 1977 to 1981 (2.7% vs. 7.4%, p less than 0.05). This decrease was mainly due to a fourfold decline in major congenital malformations in White Classes D and F (p less than 0.01), and consequently a correlation between...... the severity of maternal diabetes and the frequency of congenital malformations was no longer present. In the offspring of a control group of 1715 nondiabetic women, major congenital malformations were found in 1.7% (p greater than 0.05). Seventy-five percent of the diabetic pregnancies were planned...

  4. Newborn hearing screening: a regional example for national care.

    LENUS (Irish Health Repository)

    Adelola, O A

    2010-05-01

    Congenital Permanent Childhood Hearing Impairment (PCHI) is known to have a negative effect on language acquisition, cognitive development and social integration. Since 2000 our department has implemented a UNHS program in the West of Ireland. We describe our experience and detail our results to date. All neonates born from October 2000 to November 2007 were screened using a 2-stage protocol. Transient evoked oto-acoustic emissions (TEOAEs) were used to screen all neonates, followed by automated auditory brainstem response (AABR) in those who did not pass TEOAE, and all neonates at audiological risk. 26,281 babies were born over the eight year period. 25,742 underwent the screening process, achieving a coverage rate of 98%. The prevalence of PCHI in the population tested was 1.21\\/1000 live births (31\\/25,731). Our results show that a hospital based 2-stage UNHS protocol using TEOAEs and AABR is accurate, feasible and effective.

  5. Colestasis del recién nacido y del lactante Cholestasis of newborn and infant

    Directory of Open Access Journals (Sweden)

    Norma Hondal Álvarez

    2010-09-01

    Full Text Available Los recién nacidos y lactantes pequeños tienen una inmadurez funcional y anatómica que justifica que las enfermedades hepáticas que se manifiestan en estas edades tengan la ictericia como signo principal y que otros procesos extrahepáticos o sistémicos puedan condicionar colestasis. La colestasis del lactante es un síndrome clínico caracterizado por ictericia, acolia o hipocolia, y coluria, que evoluciona con elevación de la bilirrubina directa y de los ácidos biliares séricos. La evaluación diagnóstica del lactante con colestasis, realizada por un equipo multidisciplinario, debe minimizar la realización de pruebas innecesarias para lograr un diagnóstico correcto en el menor tiempo posible, diferenciar entre colestasis intrahepática o extrahepática y lograr un diagnóstico etiológico, que incluya aquellos procesos que ponen en peligro la vida o requieren un tratamiento específico médico o quirúrgico. El presente trabajo pretende revisar las principales causas, procedimientos diagnósticos y el enfoque terapéutico de la colestasis del recién nacido y del lactante en aras de contribuir a su diagnóstico temprano y su tratamiento adecuado.The small newborns and infants have a functional anatomical immaturity justifying that liver diseases present at these ages have the jaundice as leading sign and that other extra-hepatic or systemic processes may conditioning the Cholestasis. Infant Cholestasis is a clinical syndrome characterized by jaundice, acholia or hypoacholia and choluria evolving with a rise of direct bilirubin and of serum biliary acids. The diagnostic assessment of infant presenting with Cholestasis made by a multidisciplinary staff must to minimize the carrying out of unnecessary tests to obtain an appropriate diagnosis in less time, to differentiate among the intrahepatic or extrahepatic cholestasis and to achieve an etiologic diagnosis including the processes threatening the life or that requiring a medical or

  6. Presentation of Aural Stimuli to Newborns and Premature Infants: An Audiological Perspective.

    Science.gov (United States)

    Cassidy

    1999-01-01

    The purpose of this study was twofold: (a) to examine extant research in the field of music with premature and full term infants in order to identify protocols being used in the presentation of musical stimuli to neonates and (b) to use knowledge gleaned from audiology as a basis for suggesting a standardized protocol for use of musical stimuli with infants. Articles considered appropriate for inclusion in the analysis met the following criteria: (a) presented data for the effects of music on a dependent measure, (b) had subjects who were identified as either premature or term newborns receiving treatment after birth and prior to discharge from the hospital, and (c) used music for some or all of the aural stimuli. Articles (N = 20) were categorized by demographic information, types of aural stimuli, independent variables, dependent measures, and protocol used to present the musical stimuli. Of primary importance to this study was the protocol used in each study to present musical stimuli. Data regarding total duration of stimuli per day, longest duration of stimuli per day, method of stimuli presentation, placement of speakers, decibel level of stimuli, and where;he decibel level was measured reveal that there is no standard protocol being followed with regard to the presentation of aural stimuli. Recommendations include future research on (a) determining a minimum gestational age where music therapy may be appropriate, (b) determining the frequency spectrum perceived by a premature infant, (c) determining the decibel levels reaching the ear drum and assessing appropriate levels for minimum stimulation with maximum results, and (d) carefully considering the method of stimulus presentation as it will have an impact on the decibel level reaching the ear drum of these infants.

  7. [The comparison of two newborn cytomegalovirus IgG antibody screening ELISA kits].

    Science.gov (United States)

    Zhang, Shun-Xian; He, Xiao-Zhou; Wang, Shi-Wen; Wang, Xiao-Fang

    2013-10-01

    This study compared two newborn Cytomegalovirus (CMV) IgG antibody screening ELISA kits and evaluated the detection effectiveness of Abnova kit. CMV IgG antibodies were detected by both SeraQuest and Abnova kits from dried blood spot (DBS) samples of 488 newborn heel sticks. The detection abilities of these two kits were compared in different sample dilution concentrations. Relative detection effectiveness of the Abnova kit was defined by statistical method using the SeraQuest kit as a point of comparison. Compared to the SeraQuest screening test kit, the Abnova kit revealed a sensitivity of 98.9%, specificity of 78.6%, positive predictive value of 99.3%, negative predictive value of 68.8%, and the coincidence rate for these two screening test kits at 98.3%. The consistency check of both kits based on interpretation of the kappa statistic was relatively good. For the Abnova kit, the "area under the ROC curve" was 0.887, which indicates moderate accuracy. Abnova kit can be applied to newborn screening for congenital CMV infections. However, repeating the test for ambiguous results is suggested to increase the specificity and negative predictive value.

  8. The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.

    Science.gov (United States)

    la Marca, Giancarlo; Giocaliere, Elisa; Malvagia, Sabrina; Funghini, Silvia; Ombrone, Daniela; Della Bona, Maria Luisa; Canessa, Clementina; Lippi, Francesca; Romano, Francesca; Guerrini, Renzo; Resti, Massimo; Azzari, Chiara

    2014-01-01

    Severe combined immunodeficiency due to adenosine-deaminase defect (ADA-SCID) is usually deadly in childhood because of severe recurrent infections. When clinical diagnosis is done, permanent damages due to infections or metabolite accumulation are often present. Gene therapy, bone marrow transplantation or enzyme replacement therapy may be effective if started early. The aim of this study was to set-up a robust method suitable for screening with a minimized preparation process and with inexpensive running costs, for diagnosing ADA-SCID by tandem mass spectrometry. ADA-SCID satisfies all the criteria for inclusion in a newborn screening program. We describe a protocol revised to incorporate adenosine and 2-deoxyadenosine testing into an expanded newborn screening program. We assessed the effectiveness of this approach testing dried blood spots from 4 genetically confirmed early-onset and 5 delayed-onset ADA-SCID patients. Reference values were established on 50,000 healthy newborns (deoxyadenosine ADA) gene. The results show that the method having great simplicity, low cost and low process preparations can be fully applicable to a mass screening program. Copyright © 2013 Elsevier B.V. All rights reserved.

  9. Systematic review of knowledge of, attitudes towards, and practices for newborn hearing screening among healthcare professionals.

    Science.gov (United States)

    Ravi, Rohit; Gunjawate, Dhanshree R; Yerraguntla, Krishna; Rajashekhar, Bellur

    2018-01-01

    The success of newborn hearing screening programs lies in the timely identification, diagnosis, and management of children with hearing loss accomplished via a multidisciplinary newborn hearing screening (NHS) team. The team is typically comprised of various healthcare professionals who act as decision makers as well as facilitators for different stages in the screening process. Team members' knowledge of, attitudes towards, and practices for early hearing detection and intervention programs are critical for success and prevention of loss to follow up. In this context, it becomes crucial to understand their knowledge of, attitudes towards, and practices for towards newborn hearing screening. A systematic review was conducted on the following databases; PubMed/Medline, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Scopus, Web of Science, Science Direct and Cochrane Library. This search was carried out using various keywords such as practitioners, newborn hearing screening, knowledge, attitudes, and practices in different combinations. The review was conducted based on Preferred Reporting Items for Systematic Reviews and Meta-analyses statement guidelines. A total of 271 hits were obtained of which 20 articles were found suitable for inclusion in the final review. Overall, similar results were found regarding team members' knowledge of NHS programs, regardless of country of origin. Similarly, attitudes toward NHS programs were positive. Team members' experiences with NHS programs varied from country-to-country and across healthcare professionals. Results consistently showed gaps in team members' knowledge suggesting the need for outreach and professional education programs on NHS. NHS teams members from different countries, healthcare systems, and early hearing detection and intervention programs show gaps in critical knowledge warranting outreach and educational programs. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. Higher versus lower amino acid intake in parenteral nutrition for newborn infants.

    Science.gov (United States)

    Osborn, David A; Schindler, Tim; Jones, Lisa J; Sinn, John Kh; Bolisetty, Srinivas

    2018-03-05

    Sick newborn and preterm infants frequently are not able to be fed enterally, necessitating parenteral fluid and nutrition. Potential benefits of higher parenteral amino acid (AA) intake for improved nitrogen balance, growth, and infant health may be outweighed by the infant's ability to utilise high intake of parenteral AA, especially in the days after birth. The primary objective is to determine whether higher versus lower intake of parenteral AA is associated with improved growth and disability-free survival in newborn infants receiving parenteral nutrition.Secondary objectives include determining whether:• higher versus lower starting or initial intake of amino acids is associated with improved growth and disability-free survival without side effects;• higher versus lower intake of amino acids at maximal intake is associated with improved growth and disability-free survival without side effects; and• increased amino acid intake should replace non-protein energy intake (glucose and lipid), should be added to non-protein energy intake, or should be provided simultaneously with non-protein energy intake.We conducted subgroup analyses to look for any differences in the effects of higher versus lower intake of amino acids according to gestational age, birth weight, age at commencement, and condition of the infant, or concomitant increases in fluid intake. We used the standard search strategy of the Cochrane Neonatal Review Group to search the Cochrane Central Register of Controlled Trials (2 June 2017), MEDLINE (1966 to 2 June 2017), Embase (1980 to 2 June 2017), and the Cumulative Index to Nursing and Allied Health Literature (CINAHL) (1982 to 2 June 2017). We also searched clinical trials databases, conference proceedings, and citations of articles. Randomised controlled trials of higher versus lower intake of AAs as parenteral nutrition in newborn infants. Comparisons of higher intake at commencement, at maximal intake, and at both commencement and maximal

  11. Early skin-to-skin contact for mothers and their healthy newborn infants.

    Science.gov (United States)

    Moore, E R; Anderson, G C; Bergman, N

    2007-07-18

    Mother-infant separation postbirth is common in Western culture. Early skin-to-skin contact (SSC) begins ideally at birth and involves placing the naked baby, covered across the back with a warm blanket, prone on the mother's bare chest. According to mammalian neuroscience, the intimate contact inherent in this place (habitat) evokes neurobehaviors ensuring fulfillment of basic biological needs. This time may represent a psychophysiologically 'sensitive period' for programming future behavior. To assess the effects of early SSC on breastfeeding, behavior, and physiological adaptation in healthy mother-newborn dyads. Cochrane Pregnancy and Childbirth Group's and Neonatal Group's Trials Registers (August 2006), Cochrane Central Register of Controlled Trials (The Cochrane Library 2006, Issue 2), MEDLINE (1976 to 2006). Randomized and quasi-randomized clinical trials comparing early SSC with usual hospital care. We independently assessed trial quality and extracted data. Study authors were contacted for additional information. Thirty studies involving 1925 participants (mother-infant dyads), were included. Data from more than two trials were available for only 8-of-64 outcome measures. We found statistically significant and positive effects of early SSC on breastfeeding at one to four months postbirth (10 trials; 552 participants) (odds ratio (OR) 1.82, 95% confidence interval (CI) 1.08 to 3.07), and breastfeeding duration (seven trials; 324 participants) (weighted mean difference (WMD) 42.55, 95% CI -1.69 to 86.79). Trends were found for improved summary scores for maternal affectionate love/touch during observed breastfeeding (four trials; 314 participants) (standardized mean difference (SMD) 0.52, 95% CI 0.07 to 0.98) and maternal attachment behavior (six trials; 396 participants) (SMD 0.52, 95% CI 0.31 to 0.72) with early SSC. SSC infants cried for a shorter length of time (one trial; 44 participants) (WMD -8.01, 95% CI -8.98 to -7.04). Late preterm infants had

  12. Clinical evaluation of the Nanoduct sweat test system in the diagnosis of cystic fibrosis after newborn screening

    NARCIS (Netherlands)

    Vernooij-van Langen, Annette; Dompeling, Edward; Yntema, Jan-Bart; Arets, HGM; Tiddens, Harm; Loeber, Gerard; Dankert-Roelse, Jeannette

    After a positive newborn screening test for cystic fibrosis (CF), a sweat test is performed to confirm the diagnosis. The success rate of the generally acknowledged methods (Macroduct/Gibson and Cooke) in newborns varies between 73 and 99 %. The Nanoduct sweat test system is easier to perform and

  13. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry : A worldwide collaborative project

    NARCIS (Netherlands)

    McHugh, David M. S.; Cameron, Cynthia A.; Abdenur, Jose E.; Abdulrahman, Mahera; Adair, Ona; Al Nuaimi, Shahira Ahmed; Ahlman, Henrik; Allen, Jennifer J.; Antonozzi, Italo; Archer, Shaina; Au, Sylvia; Auray-Blais, Christiane; Baker, Mei; Bamforth, Fiona; Beckmann, Kinga; Pino, Gessi Bentz; Berberich, Stanton L.; Binard, Robert; Boemer, Francois; Bonham, Jim; Breen, Nancy N.; Bryant, Sandra C.; Caggana, Michele; Caldwell, S. Graham; Camilot, Marta; Campbell, Carlene; Carducci, Claudia; Cariappa, Rohit; Carlisle, Clover; Caruso, Ubaldo; Cassanello, Michela; Miren Castilla, Ane; Castineiras Ramos, Daisy E.; Chakraborty, Pranesh; Chandrasekar, Ram; Ramos, Alfredo Chardon; Cheillan, David; Chien, Yin-Hsiu; Childs, Thomas A.; Chrastina, Petr; Sica, Yuri Cleverthon; Cocho de Juan, Jose Angel; Elena Colandre, Maria; Cornejo Espinoza, Veronica; Corso, Gaetano; Currier, Robert; Cyr, Denis; Czuczy, Noemi; D'Apolito, Oceania; Davis, Tim; de Sain-Van der Velden, Monique G.; Delgado Pecellin, Carmen; Di Gangi, Iole Maria; Di Stefano, Cristina Maria; Dotsikas, Yannis; Downing, Melanie; Downs, Stephen M.; Dy, Bonifacio; Dymerski, Mark; Rueda, Inmaculada; Elvers, Bert; Eaton, Roger; Eckerd, Barbara M.; El Mougy, Fatma; Eroh, Sarah; Espada, Mercedes; Evans, Catherine; Fawbush, Sandy; Fijolek, Kristel F.; Fisher, Lawrence; Franzson, Leifur; Frazier, Dianne M.; Garcia, Luciana R. C.; Garcia-Valdecasas Bermejo, Maria Sierra; Gavrilov, Dimitar; Gerace, Rosemarie; Giordano, Giuseppe; Irazabal, Yolanda Gonzalez; Greed, Lawrence C.; Grier, Robert; Grycki, Elyse; Gu, Xuefan; Gulamali-Majid, Fizza; Hagar, Arthur F.; Han, Lianshu; Hannon, W. Harry; Haslip, Christa; Hassan, Fayza Abdelhamid; He, Miao; Hietala, Amy; Himstedt, Leslie; Hoffman, Gary L.; Hoffman, William; Hoggatt, Philis; Hopkins, Patrick V.; Hougaard, David M.; Hughes, Kerie; Hunt, Patricia R.; Hwu, Wuh-Liang; Hynes, June; Ibarra-Gonzalez, Isabel; Ingham, Cindy A.; Ivanova, Maria; Jacox, Ward B.; John, Catharine; Johnson, John P.; Jonsson, Jon J.; Karg, Eszter; Kasper, David; Klopper, Brenda; Katakouzinos, Dimitris; Khneisser, Issam; Knoll, Detlef; Kobayashi, Hirinori; Koneski, Ronald; Kozich, Viktor; Kouapei, Rasoul; Kohlmueller, Dirk; Kremensky, Ivo; la Marca, Giancarlo; Lavochkin, Marcia; Lee, Soo-Youn; Lehotay, Denis C.; Lemes, Aida; Lepage, Joyce; Lesko, Barbara; Lewis, Barry; Lim, Carol; Linard, Sharon; Lindner, Martin; Lloyd-Puryear, Michele A.; Lorey, Fred; Loukas, Yannis L.; Luedtke, Julie; Maffitt, Neil; Magee, J. Fergall; Manning, Adrienne; Manos, Shawn; Marie, Sandrine; Hadachi, Sonia Marchezi; Marquardt, Gregg; Martin, Stephen J.; Matern, Dietrich; Gibson, Stephanie K. Mayfield; Mayne, Philip; McCallister, Tonya D.; McCann, Mark; McClure, Julie; McGill, James J.; McKeever, Christine D.; McNeilly, Barbara; Morrissey, Mark A.; Moutsatsou, Paraskevi; Mulcahy, Eleanor A.; Nikoloudis, Dimitris; Norgaard-Pedersen, Bent; Oglesbee, Devin; Oltarzewski, Mariusz; Ombrone, Daniela; Ojodu, Jelili; Papakonstantinou, Vagelis; Reoyo, Sherly Pardo; Park, Hyung-Doo; Pasquali, Marzia; Pasquini, Elisabetta; Patel, Pallavi; Pass, Kenneth A.; Peterson, Colleen; Pettersen, Rolf D.; Pitt, James J.; Poh, Sherry; Pollak, Arnold; Porter, Cory; Poston, Philip A.; Price, Ricky W.; Queijo, Cecilia; Quesada, Jonessy; Randell, Edward; Ranieri, Enzo; Raymond, Kimiyo; Reddic, John E.; Reuben, Alejandra; Ricciardi, Charla; Rinaldo, Piero; Rivera, Jeff D.; Roberts, Alicia; Rocha, Hugo; Roche, Geraldine; Greenberg, Cheryl Rochman; Egea Mellado, Jose Maria; Jess Juan-Fita, Maria; Ruiz, Consuelo; Ruoppolo, Margherita; Rutledge, S. Lane; Ryu, Euijung; Saban, Christine; Sahai, Inderneel; Salazar Garcia-Blanco, Maria Isabel; Santiago-Borrero, Pedro; Schenone, Andrea; Schoos, Roland; Schweitzer, Barb; Scott, Patricia; Seashore, Margretta R.; Seeterlin, Mary A.; Sesser, David E.; Sevier, Darrin W.; Shone, Scott M.; Sinclair, Graham; Skrinska, Victor A.; Stanley, Eleanor L.; Strovel, Erin T.; Jones, April L. Studinski; Sunny, Sherlykutty; Takats, Zoltan; Tanyalcin, Tijen; Teofoli, Francesca; Thompson, J. Robert; Tomashitis, Kathy; Domingos, Mouseline Torquado; Torres, Jasmin; Torres, Rosario; Tortorelli, Silvia; Turi, Sandor; Turner, Kimberley; Tzanakos, Nick; Valiente, Alf G.; Vallance, Hillary; Vela-Amieva, Marcela; Vilarinho, Laura; von Doebeln, Ulrika; Vincent, Marie-Francoise; Vorster, B. Chris; Watson, Michael S.; Webster, Dianne; Weiss, Sheila; Wilcken, Bridget; Wiley, Veronica; Williams, Sharon K.; Willis, Sharon A.; Woontner, Michael; Wright, Katherine; Yahyaoui, Raquel; Yamaguchi, Seiji; Yssel, Melissa; Zakowicz, Wendy M.

    Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. Methods: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742

  14. First Colombian multicentric newborn screening for congenital toxoplasmosis.

    Directory of Open Access Journals (Sweden)

    Jorge Enrique Gómez-Marin

    Full Text Available AIMS: To determine the incidence of congenital toxoplasmosis in Colombian newborns from 19 hospital or maternal child health services from seven different cities of five natural geographic regions (Caribbean, Central, Andean, Amazonia and Eastern. MATERIALS AND METHODS: We collected 15,333 samples from umbilical cord blood between the period of March 2009 to May 2010 in 19 different hospitals and maternal-child health services from seven different cities. We applied an IgM ELISA assay (Vircell, Spain to determine the frequency of IgM anti Toxoplasma. The results in blood cord samples were confirmed either by western blot and repeated ELISA IgM assay. In a sub-sample of 1,613 children that were negative by the anti-Toxoplasma IgM assay, the frequency of specific anti-Toxoplasma IgA by the ISAGA assay was determined. All children with positive samples by IgM, IgA, clinical diagnosis or treatment during pregnancy were recalled for confirmatory tests after day 10 of life. RESULTS: 61 positive samples for specific IgM (0.39% and 9 positives for IgA (0.5% were found. 143 questionnaires were positive for a clinical diagnosis or treatment for toxoplasmosis during pregnancy. 109 out of the 218 children that had some of the criteria for postnatal confirmatory tests were followed. Congenital toxoplasmosis infection was confirmed in 15 children: 7 were symptomatic, and three of them died before the first month of life (20% of lethality. A significant correlation was found between a high incidence of markers for congenital toxoplasmosis and higher mean annual rainfall for the city. CONCLUSIONS: Incidence for congenital toxoplasmosis is significantly different between hospitals or maternal child health services from different cities in Colombia. Mean annual rainfall was correlated with incidence of congenital toxoplasmosis.

  15. Study of the knowledge of Pediatricians and Senior Residents Relating to the Importance of Hearing Impairment and Deafness Screening Among Newborns in Isfahan city in 2012

    Directory of Open Access Journals (Sweden)

    Mehrdad Rogha

    2014-04-01

    Full Text Available Introduction: Newborn hearing screening leads to the early detection of hearing impairment. The aim of screening is to decrease or remove the effect of hearing impairment on development of speech and language by timely diagnosis and effective treatment. A number of risk factors lead to delayed start of decreased hearing ability including: 1. Congenital infection with cytomegalovirus  (CMV virus, 2. Meningitis, 3. Mumps, 4. Positive family history, 5. Head trauma, 6. Chemotherapy, 7. Syndrome pertaining to delayed start of decreased hearing. Unfortunately, lack of attention to early diagnosis of hearing impairment is becoming a general health problem. No research has yet been carried out relating to the knowledge of pediatricians on this issue, particularly the importance of hearing impairment and hearing screening. The aim of this study was to determine the attitude to newborn hearing screening among pediatricians.   Materials and Methods: This cross-sectional, descriptive-analytic study was conducted in Isfahan in 2012 among 300 pediatricians and final-year pediatric residents. An adjusted 22-question version of the Early Hearing Detection and Intervention (EHDI questionnaire was used to collect data. The validity and reliability of the EHDI questionnaire was previously demonstrated by Boys Town National Research Hospital and its Farsi translated version was validated by the EDC Center at the Isfahan University of Medical Sciences.   Results: In our study, 83% of pediatricians agreed on the importance of hearing impairment screening for all infants. However 65% were not aware of special needs for hearing-impaired patients.   Conclusion:  Newborn hearing impairment and deafness screening is important, irrespective of the costs, and lack of timely diagnosis results in both individual and social consequences. The majority of physicians use textbooks to gain information about hearing screening, but recognize that this is insufficient. Although

  16. Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey

    Directory of Open Access Journals (Sweden)

    Cecelia A. Bellcross

    2015-10-01

    Full Text Available Newborn screening (NBS follow-up protocols vary significantly by state, and there is a need to better understand the infrastructure and communication flow of NBS programs. In addition, assessment of the educational needs of families and providers with regard to the implications of NBS results is required to inform the development of appropriate informational resources and training opportunities. To begin to address these issues, we administered a web-based survey to state NBS coordinators within the Southeast Regional Newborn Screening & Genetics Collaborative (SERC. Fourteen coordinators responded to the survey, including at least one from each of the 10 SERC states/territories. Over one-third of respondents had never received formal training regarding the metabolic conditions identified on NBS. Most communicated results via telephone or fax, though two centers indicated use of a web-based platform. Only two programs were involved in directly reporting results to the family. Four programs reported a long-term follow-up protocol. Deficits were noted for primary care provider (PCP knowledge of metabolic disorders identified on NBS, and how to inform parents of abnormal results. Close to half indicated that the adequacy of the number of genetic counselors, dietitians, and medical/biochemical geneticists was minimal to insufficient. Respondents uniformly recognized the importance of providing additional educational and informational resources in multiple categories to NBS staff, PCPs, and families.

  17. Effects of Fructans from Mexican Agave in Newborns Fed with Infant Formula: A Randomized Controlled Trial.

    Science.gov (United States)

    López-Velázquez, Gabriel; Parra-Ortiz, Minerva; Mora, Ignacio De la Mora-De la; García-Torres, Itzhel; Enríquez-Flores, Sergio; Alcántara-Ortigoza, Miguel Angel; Angel, Ariadna González-Del; Velázquez-Aragón, José; Ortiz-Hernández, Rosario; Cruz-Rubio, José Manuel; Villa-Barragán, Pablo; Jiménez-Gutiérrez, Carlos; Gutiérrez-Castrellón, Pedro

    2015-10-29

    The importance of prebiotics consumption is increasing all over the world due to their beneficial effects on health. Production of better prebiotics from endemic plants raises possibilities to enhance nutritional effects in vulnerable population groups. Fructans derived from Agave Plant have demonstrated their safety and efficacy as prebiotics in animal models. Recently, the safety in humans of two fructans obtained from Agave tequilana (Metlin(®) and Metlos(®)) was demonstrated. This study aimed to demonstrate the efficacy as prebiotics of Metlin(®) and Metlos(®) in newborns of a randomized, double blind, controlled trial with a pilot study design. Biological samples were taken at 20 ± 7 days, and three months of age from healthy babies. Outcomes of efficacy include impact on immune response, serum ferritin, C-reactive protein, bone metabolism, and gut bacteria changes. There were differences statistically significant for the groups of infants fed only with infant formula and with formula enriched with Metlin(®) and Metlos(®). Our results support the efficacy of Metlin(®) and Metlos(®) as prebiotics in humans, and stand the bases to recommend their consumption. ClinicalTrials.gov, NCT 01251783.

  18. Effects of Fructans from Mexican Agave in Newborns Fed with Infant Formula: A Randomized Controlled Trial

    Directory of Open Access Journals (Sweden)

    Gabriel López-Velázquez

    2015-10-01

    Full Text Available Background: The importance of prebiotics consumption is increasing all over the world due to their beneficial effects on health. Production of better prebiotics from endemic plants raises possibilities to enhance nutritional effects in vulnerable population groups. Fructans derived from Agave Plant have demonstrated their safety and efficacy as prebiotics in animal models. Recently, the safety in humans of two fructans obtained from Agave tequilana (Metlin® and Metlos® was demonstrated. Methods: This study aimed to demonstrate the efficacy as prebiotics of Metlin® and Metlos® in newborns of a randomized, double blind, controlled trial with a pilot study design. Biological samples were taken at 20 ± 7 days, and three months of age from healthy babies. Outcomes of efficacy include impact on immune response, serum ferritin, C-reactive protein, bone metabolism, and gut bacteria changes. Results: There were differences statistically significant for the groups of infants fed only with infant formula and with formula enriched with Metlin® and Metlos®. Conclusions: Our results support the efficacy of Metlin® and Metlos® as prebiotics in humans, and stand the bases to recommend their consumption. Trial Registration: ClinicalTrials.gov, NCT 01251783.

  19. Comprehensive approach to newborns and infants with brachial plexus impairment – proposal of Slovenian guidelines

    Directory of Open Access Journals (Sweden)

    Katja Groleger Sršen

    2015-06-01

    Full Text Available The impairment of brachial plexus (IBP in the neonate and infant remains an important problem. Risk factors for IBP are well known, but the mechanisms of impairment are not yet fully understood. It is important to identify early signs of IBP and to evaluate the hand function. In the guidelines we propose to use the Toronto scale for evaluation of hand function. The newborn with IBP should be referred to physiotherapy, and then regularly followed-up once a month. If the arm and hand function, especially flexion of the elbow, is not improving at the age of two months, the infant should be referred to the tertiary level rehabilitation centre and to department for plastic surgery at the University Medical Centre in Ljubljana. When necessary, the reconstructive procedure should be done by the age of three to six months. After reconstruction of brachial plexus, the child needs a comprehensive therapy program, which involves passive stretching, sensory stimulation, exercises to promote the development of active voluntary movements, bimanual activities, and symmetrical posture and movement patterns.

  20. [Diagnosis of pulmonary hemorrhage of the newborn infants using lung ultrasonography].

    Science.gov (United States)

    Liu, J; Fu, W; Chen, S W; Wang, Y

    2017-01-02

    Objective: To investigate the accuracy and reliability of lung ultrasound in diagnosis of pulmonary hemorrhage of the newborn infants. Method: From January 2014 to May 2016, 142 neonates from the Army General Hospital of the Chinese PLA were enrolled in the study. They were divided into two groups: a study group of 42 neonates, who were diagnosed with pulmonary hemorrhage according to their medical history, clinical manifestations and chest X-ray findings, and a control group of 100 neonates with no lung disease. All subjects underwent bedside lung ultrasound in a quiet state in a supine, lateral or prone posture, performed by a single experienced physician. The ultrasound findings were compared between the two groups.Fisher's exact test was uesd for comparison between two groups. Result: The lung ultrasound main findings associated with pulmonary hemorrhage included: (1) Shred sign: which was seen in 40 patients(95%). (2) Lung consolidation with air bronchograms: which were seen in 35 patients(83%). (3) Pleural effusion: which was seen in 34 infants(81%), pleurocentesis confirmed that the fluid was really bleeding.(4)Atelectasis: which was seen in 14 cases(33%). (5) Pleural line abnormalities and disappearing A-lines with an incidence of 100%. (6) Alveolar-interstitial syndrome: 5 patients(12%)had the main manifestations of alveolar-interstitial syndrome. The above signs were not seen in normal controls (all P hemorrhage, which is suitable for routine application for the diagnosis of pulmonary hemorrhage in the neonatal intensive care unit.

  1. Common criteria among States for storage and use of dried blood spot specimens after newborn screening

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    Carlo Petrini

    2012-06-01

    Full Text Available Biological samples collected in biobanks are a resource with significant research potential. The Italian Joint Group cNB - cNBBSV (National committee of Bioethics - National committee for Biosecurity, Biotechnologies and Life Sciences published a document reporting recommendations on storage and use of dried blood spot (DBS and on the development of a National Network of Regional Newborn Screening Repositories for collection of residual DBS. Several ethical questions (about consent, possible use of genetic information, unanticipated possible usages for research purposes rise from residual newborn screening specimens collections. Moreover, legal and ethical controversies are accentuated by the conflicts between the interests of sample donors, biobank holders, researchers and the public. To overcome these difficulties the identification of a few criteria for storage and research usage of DBS is crucial.

  2. Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

    Science.gov (United States)

    2012-04-06

    Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations, laboratory testing is categorized on the basis of the level of testing complexity as either waived (i.e., from routine regulatory oversight) or nonwaived testing (which includes tests of moderate and high complexity). Laboratories that perform biochemical genetic testing are required by CLIA regulations to meet the general quality systems requirements for nonwaived testing and the personnel requirements for high-complexity testing. Laboratories that perform public health newborn screening are subject to the same CLIA regulations and applicable state requirements. As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. To help ensure the quality of laboratory testing, CDC collaborated with the Centers for Medicare & Medicaid Services, the Food and Drug Administration, the Health Resources and Services Administration, and the National Institutes of Health to develop guidelines for laboratories to meet CLIA requirements and apply additional quality assurance measures for these areas of genetic testing. This report provides recommendations for good laboratory practices that were developed based on recommendations from the Clinical Laboratory Improvement Advisory Committee, with additional input from the Secretary's Advisory Committee on Genetics, Health, and Society; the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; and representatives of newborn

  3. Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong.

    Science.gov (United States)

    Mak, Chloe Miu; Lam, Ching-Wan; Chim, Stella; Siu, Tak-Shing; Ng, King-Fai; Tam, Sidney

    2013-01-01

    Tyrosinemia type I is an autosomal recessive disorder in tyrosine metabolism. In areas without expanded newborn screening, patients present with acute hepatorenal failure in early infancy. Diagnosis can be elusive when clinical presentation is non-specific and biochemical abnormalities are masked by secondary changes. This is the first Hong Kong Chinese report. A two-month-old Chinese male infant with unremarkable antenatal and postnatal history presented with progressive abdominal distension for three days. He suffered from end-stage liver failure, hypoglycemia and hepatic encephalopathy. Diagnostic work-up was complicated starting from rule-out sepsis, intestinal obstruction, volvulus, peritonitis, septic ileus, poisoning to metabolic diseases. Clinical, biochemical and genetic data was described. The patient showed increases in multiple plasma amino acids including tyrosine, phenylalanine and methionine, and hyper-excretions of 4-hydroxyphenyl-acetate, -pyruvate, and -lactate, as well as N-acetyltyrosine which could be seen in liver failure due to both tyrosinemia type I and non-metabolic conditions. Because of the volatile nature, succinylacetone was almost undetectable. The diagnosis was confirmed by genetic analysis of FAH with two novel mutations, viz. NM_000137.2:c.1063-1G>A and NM_000137.2:c.1035_1037del. Living-related liver transplantation was done. However, the patient still suffered many complications after the severe metabolic insult with hypoxic ischemic encephalopathy, cerebral atrophy, global developmental delay and cortical visual impairment. Because of the lack of expanded newborn screening in Hong Kong, this child unfortunately presented in the most severe form of tyrosinemia type I. Expanded newborn screening can save life and reduce the burden of diagnostic complexity. This illustrates the need for expanded newborn screening in Hong Kong. Copyright © 2012 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights

  4. NAA, GC(EC) and SRXRF study of Hg species in head hair of mothers and their newborn infants

    International Nuclear Information System (INIS)

    Feng Weiyue; Qian Qinfang; Zhang Peiqun; Chai Zhifang

    1997-01-01

    Twenty-seven pairs of head from mothers and their new-born infants were collected at the time of delivery in a hospital in Beijing. The total mercury content in the hair samples was determined by INAA. The correlation between mercury content in hair of mothers and their new-born infants has been investigated. In addition, the change of Hg content in pregnant women's hair during their pregnancy was also studied by INAA and SRXRF. The results indicate a significant positive correlation between the mercury content in maternal and infant head hairs (r = +0.862, p < 0.001). The average content of Hg in infant and maternal hairs was (0.66 +- 0.31) μg/g and (0.59 +- 0.25) μg/g, respectively. The infant level exceeded the maternal by 12%. The Hg content in maternal head hair gradually reduced during pregnancy. Further, the methylmercury (Me-Hg) content in 3 maternal hair samples was analyzed by GC(EC). The Me-Hg was in accordance with the total mercury content. Thus a conclusion can be drawn that damage to the infant from Hg occurred in the early stages of pregnancy

  5. NAA, GC(EC) and SRXRF study of Hg species in head hair of mothers and their newborn infants

    International Nuclear Information System (INIS)

    Feng, W.Y.; Qian, Q.F.; Zhang, P.Q.; Chai, C.F.

    1995-01-01

    Twenty-seven pairs of head hair from mothers and their new-born infants were collected at the time of delivery in a hospital in Beijing. The total mercury content in the hair samples was determined by INAA. The correlation between mercury content in hair of mothers and their new-born infants has been investigated. In addition, the change of Hg content in pregnant women's hair during their pregnancy was also studied by INAA and SRXRF. The results indicate a significant positive correlation between the mercury content in maternal and infant head hairs (r = +0.862, p< 0.001). The average content of Hg in infant and maternal hairs was 0.66 ± 0.31 μg/g and 0.59 ± 0.25 μg/g, respectively. The infant level exceeded the maternal by 12%. The Hg content in maternal head hair gradually reduced during pregnancy. Further, the methylmercury (Me-Hg) content in 3 maternal hair samples was analyzed by GC(EC). The Me-Hg was in accordance with the total mercury content. Thus a conclusion can be drawn that damage to the infant from Hg occurred in the early stages of pregnancy. (author). 9 refs., 5 figs., 2 tabs

  6. White matter tract integrity and developmental outcome in newborn infants with hypoxic-ischemic encephalopathy treated with hypothermia.

    Science.gov (United States)

    Massaro, An N; Evangelou, Iordanis; Fatemi, Ali; Vezina, Gilbert; Mccarter, Robert; Glass, Penny; Limperopoulos, Catherine

    2015-05-01

    To determine whether corpus callosum (CC) and corticospinal tract (CST) diffusion tensor imaging (DTI) measures relate to developmental outcome in encephalopathic newborn infants after therapeutic hypothermia. Encephalopathic newborn infants enrolled in a longitudinal study underwent DTI after hypothermia. Parametric maps were generated for fractional anisotropy, mean, radial, and axial diffusivity. CC and CST were segmented by DTI-based tractography. Multiple regression models were used to examine the association of DTI measures with Bayley-II Mental (MDI) and Psychomotor Developmental Index (PDI) at 15 months and 21 months of age. Fifty-two infants (males n=32, females n=20) underwent DTI at median age of 8 days. Two were excluded because of poor magnetic resonance imaging quality. Outcomes were assessed in 42/50 (84%) children at 15 months and 35/50 (70%) at 21 months. Lower CC and CST fractional anisotropy were associated with lower MDI and PDI respectively, even after controlling for gestational age, birth weight, sex, and socio-economic status. There was also a direct relationship between CC axial diffusivity and MDI, while CST radial diffusivity was inversely related to PDI. In encephalopathic newborn infants, impaired microstructural organization of the CC and CST predicts poorer cognitive and motor performance respectively. Tractography provides a reliable method for early assessment of perinatal brain injury. © 2014 Mac Keith Press.

  7. Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?†

    OpenAIRE

    Cannon, Michael J.; Griffiths, Paul D.; Aston, Van; Rawlinson, William D.

    2014-01-01

    Congenital CMV infection is a leading cause of childhood disability. Many children born with congenital CMV infection are asymptomatic or have nonspecific symptoms and therefore are typically not diagnosed. A strategy of newborn CMV screening could allow for early detection and intervention to improve clinical outcomes. Interventions might include antiviral drugs or nonpharmaceutical therapies such as speech-language therapy or cochlear implants. Using published data from developed countries,...

  8. Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry

    OpenAIRE

    Yoon, Hye-Ran

    2015-01-01

    The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorders, at their earliest to start treatment before the clinical manifestations become evident. Understanding and tracing the biochemical data obtained from tandem mass spectrometry is vital for early diagnosis of metabolic diseases associated with such disorders. Accordingly, it is important to focus on the entire diagnostic process, including differential and confirmatory diagnostic options, and ...

  9. How to motivate newborn hearing screening in the absence of a national programme: a collaboration between parents and professionals.

    Science.gov (United States)

    Cutler, Jodi; Lenzi, Giovanni; Berrettini, Stefano; Martini, Alessandro; Martinelli, Stefano

    2012-10-01

    The establishment of the Italian Pediatric Federation Newborn Hearing Screening Network and the Italian Society of Neonatology Infant Hearing Study Group is the result of an international collaboration between Parents and Medical Professionals in order to promote an effective model in developing Early Hearing Detection Intervention Programs that recognize the role of parents as partners in the process. Among other factors, one important component frequently underestimated in most early intervention programs, both in the USA and other countries, involves the role of parental involvement within the Early Hearing Detection Intervention (EHDI) process. When a parent receives the news of their child's hearing loss, reactions may include, but are not limited to denial, grief, guilt, shame, fear and impotency. A parent may begin to ask certain questions: How do we know if the professionals in our children's lives are capable, educated, trained, up to date in their chosen fields of expertise? Do they respect our children and us as parents? Do they understand the needs of children who are deaf or hard of hearing? A life-long health professional - parental collaboration begins at the moment of the diagnosis of that child. When analyzing the habilitation process of a deaf child, the relationship between health professionals and the crucial role of parents in raising that child is a 50-50 shared responsibility. An objective of EHDI programs must be to empower parents by providing support from the beginning of the process. Distributing informative literature regarding the newborn hearing screening process and providing parents with access to resources such as parental support groups upon diagnosis equips parents with the tools necessary to immediately begin advocating for their children. The Italian Federation Pediatric Audiology Network was created by combining the parental perspective and medical protocols in order to establish the roots for stronger EHDI programs.

  10. Urinary tract infection in full-term newborn infants: risk factor analysis

    Directory of Open Access Journals (Sweden)

    Falcão Mário Cícero

    2000-01-01

    Full Text Available OBJECTIVE: To analyze the correlation of risk factors to the occurrence of urinary tract infection in full-term newborn infants. PATIENTS AND METHODS: Retrospective study (1997 including full-term infants having a positive urine culture by bag specimen. Urine collection was based on: fever, weight loss > 10% of birth weight, nonspecific symptoms (feeding intolerance, failure to thrive, hypoactivity, debilitate suction, irritability, or renal and urinary tract malformations. In these cases, another urine culture by suprapubic bladder aspiration was collected to confirm the diagnosis. To compare and validate the risk factors in each group, the selected cases were divided into two groups: Group I - positive urine culture by bag specimen collection and negative urine culture by suprapubic aspiration, and Group II - positive urine culture by bag specimen collection and positive urine culture by suprapubic aspiration . RESULTS: Sixty one infants were studied, Group I, n = 42 (68.9% and Group II, n = 19 (31.1%. The selected risk factors (associated infectious diseases, use of broad-spectrum antibiotics, renal and urinary tract malformations, mechanical ventilation, parenteral nutrition and intravascular catheter were more frequent in Group II (p<0.05. Through relative risk analysis, risk factors were, in decreasing importance: parenteral nutrition, intravascular catheter, associated infectious diseases, use of broad-spectrum antibiotics, mechanical ventilation, and renal and urinary tract malformations. CONCLUSION: The results showed that parenteral nutrition, intravascular catheter, and associated infectious diseases contributed to increase the frequency of neonatal urinary tract infection, and in the presence of more than one risk factor, the occurrence of urinary tract infection rose up to 11 times.

  11. Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry

    Directory of Open Access Journals (Sweden)

    Hye-Ran Yoon

    2015-09-01

    Full Text Available The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorders, at their earliest to start treatment before the clinical manifestations become evident. Understanding and tracing the biochemical data obtained from tandem mass spectrometry is vital for early diagnosis of metabolic diseases associated with such disorders. Accordingly, it is important to focus on the entire diagnostic process, including differential and confirmatory diagnostic options, and the major factors that influence the results of biochemical analysis. Compared to regular biochemical testing, this is a complex process carried out by a medical physician specialist. It is comprised of an integrated program requiring multidisciplinary approach such as, pediatric specialist, expert scientist, clinical laboratory technician, and nutritionist. Tandem mass spectrometry is a powerful tool to improve screening of newborns for diverse metabolic diseases. It is likely to be used to analyze other treatable disorders or significantly improve existing newborn tests to allow broad scale and precise testing. This new era of various screening programs, new treatments, and the availability of detection technology will prove to be beneficial for the future generations.

  12. Parental knowledge reduces long term anxiety induced by false-positive test results after newborn screening for cystic fibrosis

    NARCIS (Netherlands)

    Vernooij-van Langen, A.M.M.; Pal, S.M. van der; Reijntjens, A.J.T.; Loeber, J.G.; Dompeling, E.; Dankert-Roelse, J.E.

    2014-01-01

    Background: False-positive screening results in newborn screening for cystic fibrosis may lead to parental stress, family relationship problems and a changed perception of the child's health. Aim of the study: To evaluate whether parental anxiety induced by a false positive screening result

  13. Comparison of the effect of topical application of human milk and dry cord care on the bacterial colonization of umbilical cord in newborn infants

    OpenAIRE

    Fatemeh Abbaszadeh; zanab Hajizadeh; Mahboobeh Kafaei Atrian; Azam Bagheri; Nahid Sarafraz

    2014-01-01

    Background: Breast milk contains significant amounts of compounds that act as natural antimicrobial agents. This study was conducted to compare the effect of topical application of human milk and dry cord care on bacterial colonization in the umbilical cord of newborn infants. Methods: This clinical trial study was carried out on 174 infants in Kashan. The newborns were randomized to mother's milk group and dry cord care group from the birth. In group 1, the mother rubbed her own milk on ...

  14. Vacuum assisted birth and risk for cerebral complications in term newborn infants: a population-based cohort study

    Science.gov (United States)

    2014-01-01

    Background Few studies have focused on cerebral complications among newborn infants delivered by vacuum extraction (VE). The aim of this study was to determine the risk for intracranial haemorrhage and/or cerebral dysfunction in newborn infants delivered by VE and to compare this risk with that after cesarean section in labour (CS) and spontaneous vaginal delivery, respectively. Methods Data was obtained from Swedish national registers. In a population-based cohort from 1999 to 2010 including all singleton newborn infants delivered at term after onset of labour by VE (n = 87,150), CS (75,216) or spontaneous vaginal delivery (n = 851,347), we compared the odds for neonatal intracranial haemorrhage, traumatic or non-traumatic, convulsions or encephalopathy. Logistic regressions were used to calculate adjusted (for major risk factors and indication) odds ratios (AOR), using spontaneous vaginal delivery as reference group. Results The rates of traumatic and non-traumatic intracranial hemorrhages were 0.8/10,000 and 3.8/1,000. VE deliveries provided 58% and 31.5% of the traumatic and non-traumatic cases, giving a ten-fold risk [AOR 10.05 (4.67-21.65)] and double risk [AOR 2.23 (1.57-3.16)], respectively. High birth weight and short mother were associated with the highest risks. Infants delivered by CS had no increased risk for intracranial hemorrhages. The risks for convulsions or encephalopathy were similar among infants delivered by VE and CS, exceeding the OR after non-assisted spontaneous vaginal delivery by two-to-three times. Conclusion Vacuum assisted delivery is associated with increased risk for neonatal intracranial hemorrhages. Although causality could not be established in this observational study, it is important to be aware of the increased risk of intracranial hemorrhages in VE deliveries, particularly in short women and large infants. The results warrant further studies in decision making and conduct of assisted vaginal delivery. PMID:24444326

  15. Medical practice and legal background of decisions for severely ill newborn infants: viewpoints from seven European countries.

    Science.gov (United States)

    Sauer, P J J; Dorscheidt, J H H M; Verhagen, A A E; Hubben, J H

    2013-02-01

    To comparing attitudes towards end-of-life (EOL) decisions in newborn infants between seven European countries. One paediatrician and one lawyer from seven European countries were invited to attend a conference to discuss the practice of EOL decisions in newborn infants and the legal aspects involved. All paediatricians/neonatologists indicated that the best interest of the child should be the leading principle in all decisions. However, especially when discussing cases, important differences in attitude became apparent, although there are no significant differences between the involved countries with regard to national legal frameworks. Important differences in attitude towards neonatal EOL decisions between European countries exist, but they cannot be explained solely by medical or legal reasons. ©2012 The Author(s)/Acta Paediatrica ©2012 Foundation Acta Paediatrica.

  16. A Qualitative Secondary Evaluation of Statewide Follow-Up Interviews for Abnormal Newborn Screening Results for Cystic Fibrosis and Sickle Cell Hemoglobinopathy

    Science.gov (United States)

    La Pean, Alison; Collins, Jenelle L.; Christopher, Stephanie A.; Eskra, Kerry L.; Roedl, Sara; Tluczek, Audrey; Farrell, Michael H.

    2011-01-01

    Purpose The purpose of this qualitative analysis was to assess parental acceptability of large-scale, telephone follow-up regarding their infants' newborn screening (NBS) results indicating carrier status for sickle cell hemoglobinopathy (SCH) and cystic fibrosis (CF). Methods Analysis of 195 interview transcripts focused on parents' responses to two open-ended questions “What was your reaction to being called by me?” and “What do you think of the state newborn screening program having follow-up people calling parents like you?” Responses were coded using conventional content analysis procedures and non-parametric tests were performed to analyze quantitative data. Results Most parents reported favorable opinions about the follow-up. Favorable opinions were associated with several emotional reactions to receiving follow-up (pinterview beneficial (pinterview. Conclusion Parents of CF and SCH carrier infants had favorable opinions and identified specific benefits to receiving follow-up contact. This analysis demonstrates an information deficit among carrier parents and illustrates the importance of NBS follow-up and need for comprehensive communication and counseling. PMID:22261754

  17. [Sensitivity and specificity of the cerebral blood flow reactions to acupuncture in the newborn infants presenting with hypoxic ischemic encephalopathy].

    Science.gov (United States)

    Filonenko, A V; Vasilenko, A M; Khan, M A

    2015-01-01

    To evaluate the effects of acupuncture integrated into the standard therapy, the condition of cerebral blood flow, and other syndromes associated with cerebral ischemia in the newborn infants. MATERIAL AND METHODS. A total of 131 pairs of puerperae and newborns with hypoxic ischemic encephalopathy were divided into four treatment groups. 34 children of the first group were given standard therapy (control), in the second group comprised of 33 mothers and children the standard treatment was supplemented by acupuncture, the third group included only 32 mothers given the acupuncture treatment alone, and the fourth group contained only 32 newborn infants treated by acupuncture. Each course of acupuncture treatment consisted of five sessions. Sensitivity and specificity of cerebral blood flow reactions were determined based on the results of the ROC-analysis and the area under the curve before and after the treatment. The treatment with the use of acupuncture greatly improved the cerebrospinal hemodynamics (p newborn babies. The high level of sensitivity (84.4-94.8%) associated with good specificity makes it possible to distinguish between the true positive and true negative cases. Acupuncture integrated into the treatment of "mother-baby" pairs presenting with hypoxic ischemic encephalopathy can be used to improve the initially low level of cerebral blood flow in neonates presenting with this condition.

  18. Otoacoustic Emissions in Rural Nicaragua: Cost Analysis and Implications for Newborn Hearing Screening.

    Science.gov (United States)

    Wong, Lye-Yeng; Espinoza, Francisca; Alvarez, Karen Mojica; Molter, Dave; Saunders, James E

    2017-05-01

    Objective (1) Determine the incidence and risk factors for congenital hearing loss. (2) Perform cost analysis of screening programs. Study Design Proportionally distributed cross-sectional survey. Setting Jinotega, Nicaragua. Subjects and Methods Otoacoustic emissions (OAEs) were used to screen 640 infants home birth settings. Data on 15 risk factors were analyzed. Cost of 4 implementation strategies was studied: universal screening, screening at the regional health center (RHC), targeted screening, and screening at the RHC plus targeted screening. Cost-effectiveness analysis over 10 years was based on disability-adjusted life year estimates, with the World Health Organization standard of cost-effectiveness ratio (CER) / gross domestic product (GDP) births, 325 (50.8%) were in the RHC, 69 (10.8%) in the neonatal intensive care unit, and 29 (4.5%) at home. Family history and birth defect were significant in univariate analysis; birth defect was significant in multivariate analysis. Cost-effectiveness analysis demonstrated that OAE screening is cost-effective without treatment (CER/GDP = 0.06-2.00) and with treatment (CER/GDP = 0.58-2.52). Conclusions Our rate of OAE failures was comparable to those of developed countries and lower than hearing loss rates noted among Nicaraguan schoolchildren, suggesting acquired or progressive etiology in the latter. Birth defects and familial hearing loss correlated with OAE failure. OAE screening of infants is feasible and cost-effective in rural Nicaragua, although highly influenced by estimated hearing loss severity in identified infants and the high travel costs incurred in a targeted screening strategy.

  19. [The regulation of microecological disorders of the intestines in newborn infants with perinatal pathology using the new probiotic bifidumbacterin-forte].

    Science.gov (United States)

    Iakushenko, M N; Tkhagapsoeva, Zh M; Bondarenko, V M

    1997-01-01

    The study was made on 93 newborn infants with perinatal pathology, among them infants with the perinatal lesion of the central nervous system (52), hemolytic disease of newborns (19) and conjugation jaundice (12). All newborn infants were examined for the presence of intestinal microflora in its dynamics and for the state microbiocenosis, evaluated by the rapid method based on the determination of the caseinolytic activity of fecal supernatants after the correction of normal flora with bifidumbacterin in 55 infants and with bifidumbacterin-forte in 38 infants. The comparative study of these two preparations revealed that the use of probiotics containing Bifidobacterium bifidum was mainly substitutional, promoting the colonization of the intestine by lactobacteria, which later determined the suppression opportunistic microflora. The effectiveness of bifidumbacterin-forte containing live B. bifidum, immobilized on sorbent, proved to be most pronounced.

  20. Congenital cytomegalovirus infection : disease burden and screening tools : towards newborn screening

    NARCIS (Netherlands)

    Vries, Jutte Jacoba Catharina de

    2012-01-01

    Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature

  1. Newborn length predicts early infant linear growth retardation and disproportionately high weight gain in a low-income population.

    Science.gov (United States)

    Berngard, Samuel Clark; Berngard, Jennifer Bishop; Krebs, Nancy F; Garcés, Ana; Miller, Leland V; Westcott, Jamie; Wright, Linda L; Kindem, Mark; Hambidge, K Michael

    2013-12-01

    Stunting is prevalent by the age of 6 months in the indigenous population of the Western Highlands of Guatemala. The objective of this study was to determine the time course and predictors of linear growth failure and weight-for-age in early infancy. One hundred and forty eight term newborns had measurements of length and weight in their homes, repeated at 3 and 6 months. Maternal measurements were also obtained. Mean ± SD length-for-age Z-score (LAZ) declined from newborn -1.0 ± 1.01 to -2.20 ± 1.05 and -2.26 ± 1.01 at 3 and 6 months respectively. Stunting rates for newborn, 3 and 6 months were 47%, 53% and 56% respectively. A multiple regression model (R(2) = 0.64) demonstrated that the major predictor of LAZ at 3 months was newborn LAZ with the other predictors being newborn weight-for-age Z-score (WAZ), gender and maternal education∗maternal age interaction. Because WAZ remained essentially constant and LAZ declined during the same period, weight-for-length Z-score (WLZ) increased from -0.44 to +1.28 from birth to 3 months. The more severe the linear growth failure, the greater WAZ was in proportion to the LAZ. The primary conclusion is that impaired fetal linear growth is the major predictor of early infant linear growth failure indicating that prevention needs to start with maternal interventions. © 2013.

  2. Impact of age at onset and newborn screening on outcome in organic acidurias

    DEFF Research Database (Denmark)

    Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M

    2016-01-01

    analyses, symptomatic patients were divided into those presenting with first symptoms during (i.e. early onset, EO) or after the newborn period (i.e. late onset, LO). RESULTS: Patients identified by newborn screening (NBS) had a significantly lower median age of diagnosis (8 days) compared to the LO group...... % versus 39 %, p = 0.002; GA1: 26 % versus 73 %, p age-adjusted intake of natural protein and calories was significantly higher in LO patients than in EO patients reflecting different disease severities. Variable drug...... combinations, ranging from 12 in MMA-Cbl(-) to two in isovaleric aciduria, were used for maintenance treatment. The effects of specific metabolic treatment strategies on the health outcomes remain unclear because of the strong influences of age at onset (EO versus LO), diagnostic mode (NBS versus selective...

  3. NEWBORN SCREENING PROGRAM: WHY TO COLLECT IN HIGH THE HOSPITAL ONE?

    Directory of Open Access Journals (Sweden)

    Maria Ribeiro Lacerda

    2003-12-01

    Full Text Available The National Program of Newborn Screening for research of the Phenylketonuria, Congenital Hypothyroidism,Cystic Fibrosis, Sickle Cell Disease and other Hemoglobinopathies, it has as objective precociously todetect and to treat illnesses that, if prevented, prevent sequels as the mental deficiency and others. We intend,through this article, to awake the attention of the health professionals, mainly of the nurses, who act in the attendanceof the just-been newborn, of the gestante, the woman in labor and in puerperium, on the importance of theprecocious diagnosis of the diseases searched in the Program, with primordial purposes to assist the suckle for itsgood physical, neurological, psychological and intellectual development, besides offering to familiar the o geneticadvise. The examination gratuitous and is supported by law, and so that the prevention is effective, all the Maternitiesmust always carry through the collections of sample of blood of the heel of the high baby in the hospital one.

  4. Urinary paraben concentrations among pregnant women and their matching newborn infants of Korea, and the association with oxidative stress biomarkers

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Sungeun; Kim, Sunmi [School of Public Health, Seoul National University (Korea, Republic of); Park, Jeongim [College of Natural Sciences, Soonchunhyang University (Korea, Republic of); Kim, Hae-Joong [College of Medicine, Korea University (Korea, Republic of); Lee, Jeongjae; Choi, Gyuyeon [College of Medicine, Soonchunhyang University (Korea, Republic of); Choi, Sooran; Kim, Sungjoo [College of Medicine, Hallym University (Korea, Republic of); Kim, Su Young [College of Medicine, Jeju National University (Korea, Republic of); Moon, Hyo-Bang [College of Science and Technology, Hanyang University (Korea, Republic of); Kim, Sungkyoon [School of Public Health, Seoul National University (Korea, Republic of); Kho, Young Lim [Department of Health, Environment and Safety, Eulji University (Korea, Republic of); Choi, Kyungho, E-mail: kyungho@snu.ac.kr [School of Public Health, Seoul National University (Korea, Republic of)

    2013-09-01

    Parabens have been used in multiple products including personal care products, pharmaceuticals, and foods for more than 50 years but increasing numbers of studies have raised concerns on their safety. The present study was designed to determine urinary paraben levels among pregnant women and their matching newborn infants (< 48 h after delivery), and the association between paraben levels and stress markers. Pregnant women (n = 46) and their matching newborn infants were recruited from four university hospitals located in Seoul, Ansan and Jeju of Korea, 2011. Parabens including methyl paraben (MP), ethyl paraben (EP), n-propyl paraben (PP), and n-butyl paraben (BP) were measured in the urine using an automatic, high throughput online SPE–LC–MS/MS method. Urinary concentrations were normalized with specific gravity (SG). Free cortisol, malondealdehyde (MDA) and 8-hydroxydeoxyguanosine (8-OHdG) were measured in the urine as stress marker. Urinary MP was detected as the highest, and BP was detected as the lowest paraben in the urine samples of both pregnant women and their infants. Significant correlations between paraben concentrations of maternal and their newborn infant's urine were observed. The levels of urinary parabens among Korean pregnant women are comparable to those reported elsewhere, except for EP which were 4–9 folds higher than pregnant women of other countries. The ratios of infant to maternal urinary paraben concentrations varied between 0.5 and 0.6 for MP and PP, but approximately 10 fold lower for EP. Urinary MP or EP levels were associated with several oxidative stress related biomarkers such as urinary 8-OHdG and MDA, even after the adjustment of relevant covariates such as maternal age, mode of delivery, pre-pregnancy BMI, gestational age and parity. This is the first study that reported the levels of major parabens in the first urine of newborn infants. Further studies are warranted to understand the implications of paraben exposure

  5. Retinopathy of prematurity: the high cost of screening regional and remote infants.

    Science.gov (United States)

    Yu, Tzu-Ying; Donovan, Tim; Armfield, Nigel; Gole, Glen A

    2018-01-25

    Demand for retinopathy of prematurity (ROP) screening is increasing for infants born at rural and regional hospitals where the service is not generally available. The health system cost for screening regional/remote infants has not been reported. The objective of this study is to evaluate the cost of ROP screening at a large centralized tertiary neonatal service for infants from regional/rural hospitals. This is a retrospective study to establish the cost of transferring regional/rural infants to the Royal Brisbane and Women's Hospital for ROP screening over a 28-month period. A total of 131 infants were included in this study. Individual infant costs were calculated from analysis of clinical and administrative records. Economic cost of ROP screening for all transfers from regional/rural hospitals to Royal Brisbane and Women's Hospital. The average economic cost of ROP screening for this cohort was AUD$5110 per infant screened and the total cost was AUD$669 413. The average cost per infant screened was highest for infants from a regional centre with a population of 75 000 (AUD$14 856 per child), which was also geographically furthest from Brisbane. No infant in this cohort transferred from a regional nursery reached criteria for intervention for ROP by standard guidelines. Health system costs for ROP screening of remote infants at a centralized hospital are high. Alternative strategies using telemedicine can now be compared with centralized screening. © 2018 Royal Australian and New Zealand College of Ophthalmologists.

  6. Prevalence of venous obstruction in permanent endovenous pacing in newborns and infants: follow-up study.

    Science.gov (United States)

    Stojanov, Petar; Vranes, Mile; Velimirovic, Dusan; Zivkovic, Mirjana; Kocica, Mladen J; Davidovic, Lazar; Neskovic, Voislava; Stajevic, Mila

    2005-05-01

    We examined the prevalence of venous obstruction in 12 newborns and infants with permanent endovenous ventricular pacing, clinically, and by ultrasonographic assessment of hemodynamics (spontaneity, phasicity, velocity, and turbulence of flow) and morphologic parameters (compressibility, wall thickness, and thrombus presence). All implantations of single ventricular unipolar endovenous steroid leads, were performed via cephalic vein, and pacemakers were placed in subcutaneous pocket in right prepectoral region. After the vascular surgeon has carefully examined all children for presence of venous collaterals in the chest wall, morphologic and hemodynamic parameters of the subclavian, axillary, and internal jugular veins, were assessed by linear-array color Doppler. Lead capacity (LC) was calculated for each patient. Mean age of patients at implant was 6.2 months (range 1 day-12 months), mean weight 6.5 kg (range 2.25-10 kg), and mean height 60.9 cm (range 48-78 cm). Mean LC was 1.99 (range 1.14-3.07). Total follow-up was 1023 and mean follow-up 85.2 pacing months (range 3-156). No clinical signs of venous obstruction were observed. Mild stenosis (20%) of subclavian vein was found by color Doppler in 2/12 patients. Both had adequate lead diameter for body surface. Permanent endovenous pacing is a feasible procedure, even in children of body weight less than 10 kg, with quite acceptable impact on venous system patency.

  7. The window of opportunity: decision theory and the timing of prognostic tests for newborn infants.

    Science.gov (United States)

    Wilkinson, Dominic

    2009-11-01

    In many forms of severe acute brain injury there is an early phase when prognosis is uncertain, followed later by physiological recovery and the possibility of more certain predictions of future impairment. There may be a window of opportunity for withdrawal of life support early, but if decisions are delayed there is the risk that the patient will survive with severe impairment. In this paper I focus on the example of neonatal encephalopathy and the question of the timing of prognostic tests and decisions to continue or to withdraw life-sustaining treatment. Should testing be performed early or later; and how should parents decide what to do given the conflicting values at stake? I apply decision theory to the problem, using sensitivity analysis to assess how different features of the tests or different values would affect a decision to perform early or late prognostic testing. I draw some general conclusions from this model for decisions about the timing of testing in neonatal encephalopathy. Finally I consider possible solutions to the problem posed by the window of opportunity. Decision theory highlights the costs of uncertainty. This may prompt further research into improving prognostic tests. But it may also prompt us to reconsider our current attitudes towards the palliative care of newborn infants predicted to be severely impaired.

  8. [Dermohypodermitis and gut translocation Escherichia coli septicemia in a newborn infant].

    Science.gov (United States)

    Gouache, E; Chantier, E; Hubert, N; Rivière, M-F

    2013-01-01

    The burden of neonatal bacterial infections continues. They remain a significant cause of death and morbidity, despite recommendations for prevention. The epidemiology of these infections has changed. Currently the two most causative pathogens for early-onset neonatal sepsis and for late-onset sepsis in term infants are Group B streptococci (GBS) and Escherichia coli. E. coli's role is increasingly important since the widespread use of intrapartum antibiotic prophylaxis. In late-onset infections, one of the suggested pathophysiological mechanisms is microbial translocation in the gut secondary to digestive colonization, particularly when E. coli is isolated in blood cultures. This can occur either before or after birth. Bacterial sepsis can be associated with various non-specific peripheral manifestations involving skin and soft tissues. We report the case of a full-term, 26-day-old newborn admitted to the hospital for fever. She presented with dermohypodermitis of the left trunk and was diagnosed with E. coli septicemia. She was discharged in good condition after appropriate intravenous antibiotic therapy. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  9. A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

    Directory of Open Access Journals (Sweden)

    Mamatha Ramaswamy

    2017-03-01

    Full Text Available Malonic aciduria is a rare autosomal recessive organic acid disorder. With the widespread use of tandem mass spectrometry for analysis of the amino acid/acylcarnitine profile on dried blood spots for newborn screening (NBS, this condition can be readily diagnosed and can be included in the organic acid screen in NBS programs. In Qatar, we report the first case of an asymptomatic baby screened and diagnosed with malonic aciduria through NBS. This patient has a genetic variant of malonyl-CoA decarboxylase that has not been previously reported in the literature. This condition should be differentiated from a similar disorder, combined malonic and methylmalonic aciduria. The clinical phenotype of malonic aciduria is variable and the pathophysiology is not fully understood. There is no established guidance or recommendations regarding the appropriate treatment regimen, dietary therapy or regular follow-up of these patients. Most available evidence for treatment is based on a single study or case report.

  10. Conservation of the fourth gene among rotaviruses recovered from asymptomatic newborn infants and its possible role in attenuation

    International Nuclear Information System (INIS)

    Flores, J.; Midthun, K.; Hoshino, Y.; Green, K.; Gorziglia, M.; Kapikian, A.Z.; Chanock, R.M.

    1986-01-01

    RNA-RNA hybridization was performed to assess the extent of genetic relatedness among human rotaviruses isolated from children with gastroenteritis and from asymptomatic newborn infants. 32 P-labeled single-stranded RNAs produced by in vitro transcription from viral cores of the different strains tested were used as probes in two different hybridization assays: (1) undenatured genomic RNAs were resolved by polyacrylamide gel electrophoresis, denatured in situ, electrophoretically transferred to diazobenzyloxymethyl-paper (Northern blots), and then hybridized to the probes under two different conditions of stringency; and (ii) denatured genomic double-stranded RNAs were hybridized to the probes in solution and the hybrids which formed were identified by polyacrylamide gel electrophoresis. When analyzed by Northern blot hybridization at a low level of stringency, all genes from the strains tested cross-hybridized, providing evidence for some sequence homology in each of the corresponding genes. However, when hybridization stringency was increased, a difference in gene 4 sequence was detected between strains recovered from asymptomatic newborn infants (nursery strains) and strains recovered from infants and young children with diarrhea. Although the nursery strains exhibited serotypic diversity, the fourth gene appeared to be highly conversed. These results were confirmed and extended during experiments in which the RNA-RNA hybridization was carried out in solution and the resulting hybrids were analyzed by polyacrylamide gel electrophoresis. Full-length hybrids did not form between the fourth genes from the nursery strains and the corresponding genes from the strains recovered from symptomatic infants and young children

  11. Exogenous surfactant therapy in 2013: what is next? who, when and how should we treat newborn infants in the future?

    Science.gov (United States)

    2013-01-01

    Background Surfactant therapy is one of the few treatments that have dramatically changed clinical practice in neonatology. In addition to respiratory distress syndrome (RDS), surfactant deficiency is observed in many other clinical situations in term and preterm infants, raising several questions regarding the use of surfactant therapy. Objectives This review focuses on several points of interest, including some controversial or confusing topics being faced by clinicians together with emerging or innovative concepts and techniques, according to the state of the art and the published literature as of 2013. Surfactant therapy has primarily focused on RDS in the preterm newborn. However, whether this treatment would be of benefit to a more heterogeneous population of infants with lung diseases other than RDS needs to be determined. Early trials have highlighted the benefits of prophylactic surfactant administration to newborns judged to be at risk of developing RDS. In preterm newborns that have undergone prenatal lung maturation with steroids and early treatment with continuous positive airway pressure (CPAP), the criteria for surfactant administration, including the optimal time and the severity of RDS, are still under discussion. Tracheal intubation is no longer systematically done for surfactant administration to newborns. Alternative modes of surfactant administration, including minimally-invasive and aerosolized delivery, could thus allow this treatment to be used in cases of RDS in unstable preterm newborns, in whom the tracheal intubation procedure still poses an ethical and medical challenge. Conclusion The optimization of the uses and methods of surfactant administration will be one of the most important challenges in neonatal intensive care in the years to come. PMID:24112693

  12. Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.

    Science.gov (United States)

    Salinas, Danieli B; Sosnay, Patrick R; Azen, Colleen; Young, Suzanne; Raraigh, Karen S; Keens, Thomas G; Kharrazi, Martin

    2016-01-01

    Of the 2007 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations, 202 have been assigned disease liability. California's racially diverse population, along with CFTR sequencing as part of newborn screening model, provides the opportunity to examine the phenotypes of children with uncategorized mutations to help inform disease liability and penetrance. We conducted a retrospective cohort study based on children screened from 2007 to 2011 and followed for two to six years. Newborns that screened positive were divided into three genotype groups: those with two CF-causing mutations (CF-C); those with one mutation of varying clinic consequence (VCC); and those with one mutation of unknown disease liability (Unknown). Sweat chloride tests, pancreatic sufficiency status, and Pseudomonas aeruginosa colonization were compared. Children with two CF-causing mutations had a classical CF phenotype, while 5% of VCC (4/78) and 11% of Unknown (27/244) met diagnostic criteria of CF. Children carrying Unknown mutations 2215insG with D836Y, and T1036N had early and classical CF phenotype, while others carrying 1525-42G>A, L320V, L967S, R170H, and 296+28A>G had a benign clinical presentation, suggesting that these are non-CF causing. While most infants with VCC and Unknown CFTR mutations do not meet diagnostic criteria for CF, a small proportion do. These findings highlight the range of genotypes and phenotypes in the first few years of life following CF newborn screening when CFTR sequencing is performed.

  13. Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.

    Directory of Open Access Journals (Sweden)

    Danieli B Salinas

    Full Text Available Of the 2007 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR mutations, 202 have been assigned disease liability. California's racially diverse population, along with CFTR sequencing as part of newborn screening model, provides the opportunity to examine the phenotypes of children with uncategorized mutations to help inform disease liability and penetrance.We conducted a retrospective cohort study based on children screened from 2007 to 2011 and followed for two to six years. Newborns that screened positive were divided into three genotype groups: those with two CF-causing mutations (CF-C; those with one mutation of varying clinic consequence (VCC; and those with one mutation of unknown disease liability (Unknown. Sweat chloride tests, pancreatic sufficiency status, and Pseudomonas aeruginosa colonization were compared.Children with two CF-causing mutations had a classical CF phenotype, while 5% of VCC (4/78 and 11% of Unknown (27/244 met diagnostic criteria of CF. Children carrying Unknown mutations 2215insG with D836Y, and T1036N had early and classical CF phenotype, while others carrying 1525-42G>A, L320V, L967S, R170H, and 296+28A>G had a benign clinical presentation, suggesting that these are non-CF causing.While most infants with VCC and Unknown CFTR mutations do not meet diagnostic criteria for CF, a small proportion do. These findings highlight the range of genotypes and phenotypes in the first few years of life following CF newborn screening when CFTR sequencing is performed.

  14. Factors associated with failure to screen newborns for retinopathy of prematurity.

    Science.gov (United States)

    Bain, Lisa Charo; Dudley, R Adams; Gould, Jeffrey B; Lee, Henry C

    2012-11-01

    To evaluate ROP screening rates in a population-based cohort; and to identify characteristics of patients that were missed. We used the California Perinatal Quality Care Collaborative data from 2005-2007 for a cross-sectional study. Using eligibility criteria, screening rates were calculated for each hospital. Multivariable regression was used to assess associations between patient clinical and sociodemographic factors and the odds of missing screening. Overall rates of missed ROP screening decreased from 18.6% in 2005 to 12.8% in 2007. Higher gestational age (OR = 1.25 for increase of 1 week, 95% CI, 1.21-1.29), higher birth weight (OR = 1.13; 95% CI, 1.10-1.15), and singleton birth (OR = 1.2; 95% CI, 1.07-1.34) were associated with higher probability of missing screening. Level II neonatal intensive care units and neonatal intensive care units with lower volume were more likely to miss screenings. Although ROP screening rates improved over time, larger and older infants are at risk for not receiving screening. Furthermore, large variations in screening rates exist among hospitals in California. Identification of gaps in quality of care creates an opportunity to improve ROP screening rates and prevent impaired vision in this vulnerable population. Copyright © 2012 Mosby, Inc. All rights reserved.

  15. Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?

    Science.gov (United States)

    Cannon, Michael J; Griffiths, Paul D; Aston, Van; Rawlinson, William D

    2014-09-01

    Congenital CMV infection is a leading cause of childhood disability. Many children born with congenital CMV infection are asymptomatic or have nonspecific symptoms and therefore are typically not diagnosed. A strategy of newborn CMV screening could allow for early detection and intervention to improve clinical outcomes. Interventions might include antiviral drugs or nonpharmaceutical therapies such as speech-language therapy or cochlear implants. Using published data from developed countries, we analyzed existing evidence of potential benefit that could result from newborn CMV screening. We first estimated the numbers of children with the most important CMV-related disabilities (i.e. hearing loss, cognitive deficit, and vision impairment), including the age at which the disabilities occur. Then, for each of the disabilities, we examined the existing evidence for the effectiveness of various interventions. We concluded that there is good evidence of potential benefit from nonpharmaceutical interventions for children with delayed hearing loss that occurs by 9 months of age. Similarly, we concluded that there is fair evidence of potential benefit from antiviral therapy for children with hearing loss at birth and from nonpharmaceutical interventions for children with delayed hearing loss occurring between 9 and 24 months of age and for children with CMV-related cognitive deficits. We found poor evidence of potential benefit for children with delayed hearing loss occurring after 24 months of age and for children with vision impairment. Overall, we estimated that in the United States, several thousand children with congenital CMV could benefit each year from newborn CMV screening, early detection, and interventions. Copyright © 2014 John Wiley & Sons, Ltd.

  16. Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?†

    Science.gov (United States)

    Cannon, Michael J.; Griffiths, Paul D.; Aston, Van; Rawlinson, William D.

    2015-01-01

    SUMMARY Congenital CMV infection is a leading cause of childhood disability. Many children born with congenital CMV infection are asymptomatic or have nonspecific symptoms and therefore are typically not diagnosed. A strategy of newborn CMV screening could allow for early detection and intervention to improve clinical outcomes. Interventions might include antiviral drugs or nonpharmaceutical therapies such as speech-language therapy or cochlear implants. Using published data from developed countries, we analyzed existing evidence of potential benefit that could result from newborn CMV screening. We first estimated the numbers of children with the most important CMV-related disabilities (i.e. hearing loss, cognitive deficit, and vision impairment), including the age at which the disabilities occur. Then, for each of the disabilities, we examined the existing evidence for the effectiveness of various interventions. We concluded that there is good evidence of potential benefit from nonpharmaceutical interventions for children with delayed hearing loss that occurs by 9 months of age. Similarly, we concluded that there is fair evidence of potential benefit from antiviral therapy for children with hearing loss at birth and from nonpharmaceutical interventions for children with delayed hearing loss occurring between 9 and 24 months of age and for children with CMV-related cognitive deficits. We found poor evidence of potential benefit for children with delayed hearing loss occurring after 24 months of age and for children with vision impairment. Overall, we estimated that in the United States, several thousand children with congenital CMV could benefit each year from newborn CMV screening, early detection, and interventions. Copyright © 2014 John Wiley & Sons, Ltd. PMID:24760655

  17. 21 CFR 862.1055 - Newborn screening test system for amino acids, free carnitine, and acylcarnitines using tandem...

    Science.gov (United States)

    2010-04-01

    ..., free carnitine, and acylcarnitines using tandem mass spectrometry. 862.1055 Section 862.1055 Food and... screening test system for amino acids, free carnitine, and acylcarnitines using tandem mass spectrometry. (a) Identification. A newborn screening test system for amino acids, free carnitine, and acylcarnitines using tandem...

  18. Newborn Congenital Cytomegalovirus Screening Based on Clinical Manifestations and Evaluation of DNA-based Assays for In Vitro Diagnostics.

    Science.gov (United States)

    Fujii, Tomoyuki; Oka, Akira; Morioka, Ichiro; Moriuchi, Hiroyuki; Koyano, Shin; Yamada, Hideto; Saito, Shigeru; Sameshima, Hiroshi; Nagamatsu, Takeshi; Tsuchida, Shinya; Inoue, Naoki

    2017-10-01

    To establish a strategy for congenital cytomegalovirus (cCMV) screening and to establish confirmatory assays approved as in vitro diagnostics by the regulatory authorities, we evaluated the clinical risks and performance of diagnostic assays developed by commercial companies, since cCMV infection has significant clinical consequences. Newborns with clinical manifestations considered to be consequences of cCMV infection (n = 575) were screened for the presence of cytomegalovirus (CMV) DNA in urine specimens collected onto filter paper placed in their diapers using the polymerase chain reaction-based assay reported previously. Liquid urine specimens were obtained from all of 20 CMV-positive newborns and 107 of the CMV-negative newborns identified in the screening. We used these 127 specimens, as well as 12 from cCMV cases identified in a previous study and 41 from healthy newborns, to compare the performance of 2 commercial assays and 1 in-house assay. The risk-based screening allowed the identification of cCMV cases at least 10-fold more efficiently than our previous universal screening, although there appears to be a limit to the identification of asymptomatically infected newborns. Although CMV-specific IgM during pregnancy was found frequently in mothers of cCMV newborns, CMV-IgM alone is not an effective diagnostic marker. The urine-filter-based assay and the 3 diagnostic assays yielded identical results. Although risk-based and universal newborn screening strategies for cCMV infection each have their respective advantages and disadvantages, urine-filter-based assay followed by confirmatory in vitro diagnostics assays is able to identify cCMV cases efficiently.

  19. Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening.

    Science.gov (United States)

    Barends, M; Pitt, J; Morrissy, S; Tzanakos, N; Boneh, A

    2014-01-01

    In recent years it has become clear that newborn screening (NBS) programmes using tandem mass spectrometry identify "patients" with "classical" inborn errors of metabolism who are asymptomatic. This observation raises issues regarding medicalization of "non-diseases," potentially unnecessary treatment and unnecessary anxiety to parents. This study aims to identify possible markers that may assist in predicting the need for treatment of infants with "classical" organic acidaemias (OA) and urea cycle disorders (UCD) diagnosed through NBS. Medical records of all patients with classical OA and UCD detected through the Victorian NBS programme from February 2002 to January 2014, or diagnosed clinically between 1990 and January 2002 were retrospectively reviewed. Neonatal presentation did not always predict the need for on-going strict treatment. Blood concentrations of amino acids and acyl-carnitines and the changes thereof in follow-up samples correlated with severity in citrullinaemia-I, possibly isovaleric acidaemia but not in argininosuccinic aciduria or propionic acidaemia. Some specific mutations correlate with "attenuated" citrullinaemia-I. Gender may affect clinical outcome in propionic acidaemia. Changes in blood concentration of certain metabolites (amino acids, acyl-carnitines) in the first weeks of life may be predictive of the need for treatment in some disorders but not in others. Mutation analysis may be predictive in some disorders but whether or not this should be considered as second-tier testing in NBS should be discussed separately. Copyright © 2014 Elsevier Inc. All rights reserved.

  20. Maternal and neonatal factors associated with mode of delivery under a universal newborn hearing screening programme in Lagos, Nigeria

    Directory of Open Access Journals (Sweden)

    Solanke Olumuyiwa A

    2009-09-01

    Full Text Available Abstract Background Emerging evidence from a recent pilot universal newborn hearing screening (UNHS programme suggests that the burden of obstetric complications associated with mode of delivery is not limited to maternal and perinatal mortality but may also include outcomes that undermine optimal early childhood development of the surviving newborns. However, the potential pathways for this association have not been reported particularly in the context of a resource-poor setting. This study therefore set out to establish the pattern of delivery and the associated neonatal outcomes under a UNHS programme. Methods A cross-sectional study in which all consenting mothers who delivered in an inner-city tertiary maternity hospital in Lagos, Nigeria from May 2005 to December 2007 were enrolled during the UNHS programme. Socio-demographic, obstetric and neonatal factors independently associated with vaginal, elective and emergency caesarean deliveries were determined using multinomial logistic regression analyses. Results Of the 4615 mothers enrolled, 2584 (56.0% deliveries were vaginal, 1590 (34.4% emergency caesarean and 441 (9.6% elective caesarean section. Maternal age, parity, social class and all obstetric factors including lack of antenatal care, maternal HIV and multiple gestations were associated with increased risk of emergency caesarean delivery compared with vaginal delivery. Only parity, lack of antenatal care and prolonged/obstructed labour were associated with increased risk of emergency compared with elective caesarean delivery. Infants delivered by vaginal method or by emergency caesarean section were more likely to be associated with the risk of sensorineural hearing loss but less likely to be associated with hyperbilirubinaemia compared with infants delivered by elective caesarean section. Emergency caesarean delivery was also associated with male gender, low five-minute Apgar scores and admission into special care baby unit compared

  1. T-cell receptor and K-deleting recombination excision circles in newborn screening of T- and B-cell defects: review of the literature and future challenges

    Directory of Open Access Journals (Sweden)

    Marco Chiarini

    2013-05-01

    Full Text Available Since its introduction as a public health programme in the United States in the early 1960s, newborn blood screening (NBS has evolved from the detection of phenylalanine levels on filter paper to the application of DNA-based technologies to identify T-cell lymphopenia in infants with severe combined immunodeficiency. This latter use of NBS has required the development of an assay for T-cell lymphopenia based on the quantification of T-cell receptor excision circles (TRECs that could be performed on dried blood spots routinely collected from newborn infants. The TREC-based NBS was developed six years ago, and there have already been 7 successful pilot studies since then. Similarly, efforts are now being made to establish a screen for B-cell defects, in particular agammaglobulinaemia, taking advantage of the introduction of the method for the quantification of K-deleting recombination excision circles (KRECs. A further achievement of NBS could be the simultaneous recognition of T- and B-cell defects using the combined quantification of TRECs and KRECs from Guthrie card blood spots. This approach may help the early identification of infants with T- and B-cell deficiencies so that they can then be referred to specialised paediatric centres, where a precise diagnosis of severe combined immunodeficiency and agammaglobulinaemia can be performed, and where then they can immediately receive specific therapy. Simultaneous TREC and KREC quantification should also allow classification of patients into subgroups and help identify children with less serious primary immunodeficiencies. This would help avoid the opportunistic infections and frequent hospitalisations that result from a late or lack of diagnosis.

  2. Evaluating the feasibility of integrating salivary testing for congenital CMV into the Newborn Hearing Screening Programme in the UK.

    Science.gov (United States)

    Kadambari, Seilesh; Luck, Suzanne; Davis, Adrian; Walter, Simone; Agrup, Charlotte; Atkinson, Claire; Stimson, Laura; Williams, Eleri; Berrington, Janet; Griffiths, Paul; Sharland, Mike

    2015-08-01

    Congenital cytomegalovirus (cCMV) accounts for 20% of all childhood sensorineural hearing loss (SNHL) but is not routinely tested for at birth. Valganciclovir has been shown to prevent hearing deterioration and improve neurocognitive outcomes if started in the first month of life. This study aimed to assess the feasibility of integrating testing for cCMV using salivary swabs into the Newborn Hearing Screening Programme (NHSP). Parents of newborns newborn hearing screen for further audiological testing, were approached by hearing screeners to obtain a saliva sample for CMV DNA polymerase chain reaction (PCR). Eighty percent (203/255) of newborns who were eligible had a saliva swab taken by the hearing screener. Over 99% of results were delivered within the first month of life. Two newborns were identified with cCMV and both seen on day 10 of life by the paediatric specialist. All saliva samples tested delivered a result using real-time PCR. It is feasible for hearing screeners to obtain saliva swabs to test for CMV DNA using real-time PCR in newborns referred after their initial hearing screen. Rapid diagnostic testing for cCMV needs a more detailed clinical and cost-effectiveness analysis.

  3. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: A BabySeq Project case report.

    Science.gov (United States)

    Murry, Jaclyn B; Machini, Kalotina; Ceyhan-Birsoy, Ozge; Kritzer, Amy; Krier, Joel B; Lebo, Matthew S; Fayer, Shawn; Genetti, Casie A; Vannoy, Grace E; Yu, Timothy W; Agrawal, Pankaj B; Parad, Richard B; Holm, Ingrid A; McGuire, Amy L; Green, Robert C; Beggs, Alan H; Rehm, Heidi L; Project, The BabySeq

    2018-05-04

    Here, we report a newborn female infant from the well-baby cohort of the BabySeq Project who was identified with compound heterozygous BTD gene variants. The two identified variants included a well-established pathogenic variant (c.1612C>T, p.Arg538Cys) that causes profound biotinidase deficiency (BTD) in homozygosity. In addition, a novel splice variant (c.44+1G>A, p.?) was identified in the invariant splice donor region of intron 1, potentially predictive of loss of function. The novel variant was predicted to impact splicing of exon 1; however, given the absence of any reported pathogenic variants in exon 1 and the presence of alternative splicing with exon 1 absent in most tissues in the GTEx database, we assigned an initial classification of uncertain significance. Follow-up medical record review of state mandated newborn screen (NBS) results revealed an initial out-of-range biotinidase activity level. Levels from a repeat NBS sample barely passed cut-off into the normal range. To determine whether the infant was biotinidase deficient, subsequent diagnostic enzyme activity testing was performed, confirming partial BTD, and resulted in a change of management for this patient. This led to reclassification of the novel splice variant based on these results. In conclusion, combining the genetic and NBS results together prompted clinical follow-up that confirmed partial biotinidase deficiency, and informed this novel splice site's reclassification emphasizing the importance of combining iterative genetic and phenotypic evaluations. Cold Spring Harbor Laboratory Press.

  4. Severe hemolytic disease of the newborn in a group B African-American infant delivered by a group O mother.

    Science.gov (United States)

    Drabik-Clary, Kathryn; Reddy, Vishnu V B; Benjamin, William H; Boctor, Fouad N

    2006-01-01

    Maternal-fetal ABO incompatibility is a common hematological problem affecting the newborn. In general, hemolysis is minimal and the clinical course is relatively benign, rarely causing the escalating levels of hyperbilirubinemia and significant anemia commonly associated with Rh hemolytic disease of the newborn (HDN). The incidence of HDN ranges from one in 150 births to 1:3000 births, depending on the degree of anemia and level of serum bilirubin. The etiology of ABO hemolytic disease of the newborn (ABO-HDN) is complex because anti-A and anti-B antibodies are composed mainly of IgM. Since only IgG antibodies cross the placenta, those pregnant women with high levels of IgG anti-A,B, anti-A, or anti-B with an ABO incompatible fetus will be the ones to give birth to an infant with ABO-HDN. We describe a case of a B/Rh positive term newborn born to an O/Rh negative African-American mother demonstrating aggressive hemolysis and a robust response of the bone marrow. This case was successfully managed with phototherapy and simple RBC transfusion without the need for exchange transfusion.

  5. Newborn hearing screening programme in Belgium: a consensus recommendation on risk factors.

    Science.gov (United States)

    Vos, Bénédicte; Senterre, Christelle; Lagasse, Raphaël; Levêque, Alain

    2015-10-16

    Understanding the risk factors for hearing loss is essential for designing the Belgian newborn hearing screening programme. Accordingly, they needed to be updated in accordance with current scientific knowledge. This study aimed to update the recommendations for the clinical management and follow-up of newborns with neonatal risk factors of hearing loss for the newborn screening programme in Belgium. A literature review was performed, and the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system assessment method was used to determine the level of evidence quality and strength of the recommendation for each risk factor. The state of scientific knowledge, levels of evidence quality, and graded recommendations were subsequently assessed using a three-round Delphi consensus process (two online questionnaires and one face-to-face meeting). Congenital infections (i.e., cytomegalovirus, toxoplasmosis, and syphilis), a family history of hearing loss, consanguinity in (grand)parents, malformation syndromes, and foetal alcohol syndrome presented a 'high' level of evidence quality as neonatal risk factors for hearing loss. Because of the sensitivity of auditory function to bilirubin toxicity, hyperbilirubinaemia was assessed at a 'moderate' level of evidence quality. In contrast, a very low birth weight, low Apgar score, and hospitalisation in the neonatal intensive care unit ranged from 'very low' to 'low' levels, and ototoxic drugs were evidenced as 'very low'. Possible explanations for these 'very low' and 'low' levels include the improved management of these health conditions or treatments, and methodological weaknesses such as confounding effects, which make it difficult to conclude on individual risk factors. In the recommendation statements, the experts emphasised avoiding unidentified neonatal hearing loss and opted to include risk factors for hearing loss even in cases with weak evidence. The panel also highlighted the cumulative effect

  6. Alterações condutivas em neonatos que falharam na triagem auditiva neonatal Conductive impairment in newborn who failed the newborn hearing screening

    Directory of Open Access Journals (Sweden)

    Priscila Karla Santana Pereira

    2010-06-01

    Full Text Available Na triagem auditiva neonatal pouca importância é atribuída às alterações de orelha média. As crianças que apresentam otites secretoras no período neonatal são de risco para desenvolver otite média no primeiro ano de vida. OBJETIVO: Verificar se as crianças que falharam na triagem auditiva por alteração condutiva têm mais episódios de comprometimento condutivo durante o primeiro ano de vida. MATERIAL E MÉTODO: O grupo estudo foi constituído por 62 crianças que falharam na triagem por comprometimento condutivo. O controle foi formado por 221 que passaram. Ambos tiveram acompanhamento audiológico e otorrinolaringológico e foram comparados quanto à ocorrência de comprometimento condutivo. Foram utilizados para análise estatística o teste Exato de Fisher e modelos de Regressão Logística. O estudo foi prospectivo e retrospectivo. RESULTADOS: As crianças que falharam na triagem por comprometimento condutivo tiveram mais episódios de otite média durante o primeiro ano de vida do que as que não falharam, com diferença significante. CONCLUSÃO: Os neonatos que falharam na triagem no primeiro mês de vida por alteração condutiva têm maior chance de apresentarem otite no primeiro ano de vida. A elevada ocorrência de otite indica a necessidade da atuação conjunta com otorrinolaringologista para o diagnóstico de tais alterações.In newborn hearing screening little importance is attributed to changes in the middle ear. Children with secretory otitis in the neonatal period are at risk for developing otitis media in the first year of life. AIM: To determine if children who failed the hearing screening because of conductive hearing loss have more episodes of conductive hearing impairment during their first years of life. MATERIALS AND METHODS: The study group comprised 62 children who failed the screening for conductive impairment. The control was made up of 221 who passed. Both had audiologic and otolaryngological

  7. Continuous glucose monitoring in newborn infants: how do errors in calibration measurements affect detected hypoglycemia?

    Science.gov (United States)

    Thomas, Felicity; Signal, Mathew; Harris, Deborah L; Weston, Philip J; Harding, Jane E; Shaw, Geoffrey M; Chase, J Geoffrey

    2014-05-01

    Neonatal hypoglycemia is common and can cause serious brain injury. Continuous glucose monitoring (CGM) could improve hypoglycemia detection, while reducing blood glucose (BG) measurements. Calibration algorithms use BG measurements to convert sensor signals into CGM data. Thus, inaccuracies in calibration BG measurements directly affect CGM values and any metrics calculated from them. The aim was to quantify the effect of timing delays and calibration BG measurement errors on hypoglycemia metrics in newborn infants. Data from 155 babies were used. Two timing and 3 BG meter error models (Abbott Optium Xceed, Roche Accu-Chek Inform II, Nova Statstrip) were created using empirical data. Monte-Carlo methods were employed, and each simulation was run 1000 times. Each set of patient data in each simulation had randomly selected timing and/or measurement error added to BG measurements before CGM data were calibrated. The number of hypoglycemic events, duration of hypoglycemia, and hypoglycemic index were then calculated using the CGM data and compared to baseline values. Timing error alone had little effect on hypoglycemia metrics, but measurement error caused substantial variation. Abbott results underreported the number of hypoglycemic events by up to 8 and Roche overreported by up to 4 where the original number reported was 2. Nova results were closest to baseline. Similar trends were observed in the other hypoglycemia metrics. Errors in blood glucose concentration measurements used for calibration of CGM devices can have a clinically important impact on detection of hypoglycemia. If CGM devices are going to be used for assessing hypoglycemia it is important to understand of the impact of these errors on CGM data. © 2014 Diabetes Technology Society.

  8. Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy.

    Science.gov (United States)

    Wood, Molly F; Hughes, Sarah C; Hache, Lauren P; Naylor, Edwin W; Abdel-Hamid, Hoda Z; Barmada, M Michael; Dobrowolski, Steven F; Stickler, David E; Clemens, Paula R

    2014-06-01

    Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue. Copyright © 2013 Wiley Periodicals, Inc.

  9. Delay in blood sampling for routine newborn screening is associated with increased risk of schizophrenia

    DEFF Research Database (Denmark)

    Nordentoft, Merete; Tidselbak Larsen, Janne; Pedersen, Carsten Bøcker

    2015-01-01

    for this association. Therefore, we investigated whether the increased risk can be explained by other risk factors for schizophrenia. METHODS: A case-control design was applied. A total of 846 cases with schizophrenia were selected from the Danish Psychiatric Case Register. One control was selected for each case......BACKGROUND: The Danish Neonatal Screening Biobank, containing dried blood spot samples from all newborn in Denmark, is a unique source of data that can be utilized for analyses of genetic and environmental exposures related to schizophrenia and other mental disorders. In previous analyses, we have...... found that early and late blood sampling, compared to sampling at day 5, was associated with increased risk of schizophrenia. As delay in sampling of blood for neonatal screening cannot in itself influence the risk of schizophrenia, it must be seen as a proxy for unknown underlying causes responsible...

  10. Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice.

    Science.gov (United States)

    Kai, J; Ulph, F; Cullinan, T; Qureshi, N

    2009-11-01

    To describe and explore current practice, methods and experience of communicating carrier status information following newborn screening for cystic fibrosis (CF) and sickle cell (SC) disorders, to inform practice and further research. Three linked qualitative studies. All nine health regions in England. Child health screening coordinators in all English health regions, health professionals communicating results to parents and parents of newborn carriers. A preliminary phase of semi-structured telephone interviews with child health screening coordinators in all nine English health regions, and thematic analysis of data; semi-structured face-to-face interviews with purposeful samples of 67 family members of 51 infants identified by universal newborn screening as carriers of CF or SC with data analysis by constant comparison; and semi-structured telephone interviews, and focus groups, with a key informant sample of 16 differing health professionals currently tasked with communicating results to parents in a range of ways, with thematic analysis of data. Methods for and respondents' experiences of communication of carrier results varied considerably within and between regions, and within and between SC and CF contexts. Approaches ranged from letter or telephone call alone, to in-person communication in the clinic or at home, with health professionals from haemoglobinopathy, CF, screening and genetics backgrounds, or from community and primary care, such as health visitors with SC carrier results. Health professionals identified pros and cons of different methods, preferring opportunity for face-to-face communication with parents where possible, particularly for CF carrier results. They were concerned by regional variations in protocols, the lack of availability of translated information on SC carrier results, and the feasibility of sustaining more 'specialist' involvement at current levels, particularly for SC carriers. Parents were often poorly prepared for the

  11. Newborn screening blood spot analysis in the UK: influence of spot size, punch location and haematocrit.

    Science.gov (United States)

    Lawson, A J; Bernstone, L; Hall, S K

    2016-03-01

    In dried blood spot analysis, punch location and variations in applied sample volume and haematocrit can produce different measured concentrations of analytes. We investigated the magnitude of these effects in newborn screening in the UK. Heparinized blood spiked with thyroid stimulating hormone (TSH), phenylalanine, tyrosine, leucine, methionine, octanoyl carnitine (C8), and immunoreactive trypsinogen (IRT) was spotted onto filter paper: (i) at a constant haematocrit of 50% at various volumes, and (ii) at a range of haematocrits using a constant volume. Subpunches (3.2 mm) of the dried blood spots were then analysed. Compared with a central punch from a 50 µL blood spot with 50% haematocrit, 10 µL spots can have significantly lower measured concentrations of all analytes, with decreases of 15% or more observed for leucine, methionine, phenylalanine, and tyrosine. Punching at the edge of a spot can increase measured concentrations up to 35%. Higher haematocrit decreased measured TSH and C8 yet increased amino acids and IRT by 15% compared with 50% haematocrit. Lower haematocrits had the opposite effect, but only with higher concentrations of some analytes. Differences in blood spot size, haematocrit and punch location substantially affect measured concentrations for analytes used in the UK newborn screening programme, and this could affect false positive and negative rates. To minimize analytical bias, these variables should be controlled or adjusted for where possible. © The Author(s) 2015.

  12. Fostering caring relationships: Suggestions to rethink liberal perspectives on the ethics of newborn screening.

    Science.gov (United States)

    van der Burg, Simone; Oerlemans, Anke

    2018-03-01

    Newborn screening (NBS) involves the collection of blood from the heel of a newborn baby and testing it for a list of rare and inheritable disorders. New biochemical screening technologies led to expansions of NBS programs in the first decade of the 21st century. It is expected that they will in time be replaced by genetic sequencing technologies. These developments have raised a lot of ethical debate. We reviewed the ethical literature on NBS, analyzed the issues and values that emerged, and paid particular interest to the type of impacts authors think NBS should have on the lives of children and their families. Our review shows that most authors keep their ethical reflection confined to policy decisions, about for instance (a) the purpose of the program, and (b) its voluntary or mandatory nature. While some authors show appreciation of how NBS information empowers parents to care for their (diseased) children, most authors consider these aspects to be 'private' and leave their evaluation up to parents themselves. While this division of moral labor fits with the liberal conviction to leave individuals free to decide how they want to live their private lives, it also silences the ethical debate about these issues. Given the present and future capacity of NBS to offer an abundance of health-related information, we argue that there is good reason to develop a more substantive perspective to whether and how NBS can contribute to parents' good care for children. © 2018 The Authors. Bioethics Published by John Wiley & Sons Ltd.

  13. Delayed cystic fibrosis presentation in children in the absence of newborn screening.

    LENUS (Irish Health Repository)

    Jackson, A

    2010-04-01

    Newborn cystic fibrosis (CF) screening facilitates early diagnosis and nutritional intervention, which prevents malnourishment and improves growth in childhood. To provide baseline information on the natural history of CF in the Republic of Ireland, where newborn screening has not yet been introduced and CF incidence is high (1:1353 live births), we examined the effect of presentation mode, symptom type and gender on age at diagnosis. Median age at diagnosis was calculated by gender and for presentation mode\\/symptom type for 601 CF registry children diagnosed 1986-2007. Modes of presentation were each significantly associated with delayed presentation. An adjusted odds ratio of 4.5 (95% CI: 1.8, 11.1) was determined for presentation with family history, 43.1 for gastrointestinal symptoms presentation (95% CI: 18.3, 101.4), 96.9 for both respiratory and gastrointestinal symptoms (95% CI: 38.6, 243,4), and 115.4 for respiratory symptoms (95% CI: 45.2, 294.7). Children with respiratory symptoms had the greatest likelihood of delayed diagnosis (median age: 20.4 months), followed by those with respiratory and gastrointestinal symptoms (9.2 months). Gender was not significantly associated with a delayed presentation when presentation mode was taken into account.

  14. Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte

    Directory of Open Access Journals (Sweden)

    Shane C. Quinonez

    2014-01-01

    Full Text Available Dihydrolipoamide dehydrogenase deficiency, also known as maple syrup urine disease (MSUD type III, is caused by the deficiency of the E3 subunit of branched chain alpha-ketoacid dehydrogenase (BCKDH, α-ketoglutarate dehydrogenase (αKGDH, and pyruvate dehydrogenase (PDH. DLD deficiency variably presents with either a severe neonatal encephalopathic phenotype or a primarily hepatic phenotype. As a variant form of MSUD, it is considered a core condition recommended for newborn screening. The detection of variant MSUD forms has proven difficult in the past with no asymptomatic DLD deficiency patients identified by current newborn screening strategies. Citrulline has recently been identified as an elevated dried blood spot (DBS metabolite in symptomatic patients affected with DLD deficiency. Here we report the retrospective DBS analysis and second-tier allo-isoleucine testing of 2 DLD deficiency patients. We show that an elevated citrulline and an elevated allo-isoleucine on second-tier testing can be used to successfully detect DLD deficiency. We additionally recommend that DLD deficiency be included in the “citrullinemia/elevated citrulline” ACMG Act Sheet and Algorithm.

  15. Evidence on Adrenaline Use in Resuscitation and Its Relevance to Newborn Infants: A Non-Systematic Review.

    Science.gov (United States)

    Pinto, Merlin; Solevåg, Anne Lee; OʼReilly, Megan; Aziz, Khalid; Cheung, Po-Yin; Schmölzer, Georg M

    2017-01-01

    Guidelines for newborn resuscitation state that if the heart rate does not increase despite adequate ventilation and chest compressions, adrenaline administration should be considered. However, controversy exists around the safety and effectiveness of adrenaline in newborn resuscitation. The aim of this review was to summarise a selection of the current knowledge about adrenaline during resuscitation and evaluate its relevance to newborn infants. A search in PubMed, Embase, and Google Scholar until September 1, 2015, using search terms including adrenaline/epinephrine, cardiopulmonary resuscitation, death, severe brain injury, necrotizing enterocolitis, bronchopulmonary dysplasia, and adrenaline versus vasopressin/placebo. Adult data indicate that adrenaline improves the return of spontaneous circulation (ROSC) but not survival to hospital discharge. Newborn animal studies reported that adrenaline might be needed to achieve ROSC. Intravenous administration (10-30 μg/kg) is recommended; however, if there is no intravenous access, a higher endotracheal dose (50-100 μg/kg) is needed. The safety and effectiveness of intraosseous adrenaline remain undetermined. Early and frequent dosing does not seem to be beneficial. In fact, negative hemodynamic effects have been observed, especially with doses ≥30 μg/kg intravenously. Little is known about adrenaline in birth asphyxia and in preterm infants, but observations indicate that hemodynamics and neurological outcomes may be impaired by adrenaline administration in these conditions. However, a causal relationship between adrenaline administration and outcomes cannot be established from the few available retrospective studies. Alternative vasoconstrictors have been investigated, but the evidence is scarce. More research is needed on the benefits and risks of adrenaline in asphyxia-induced bradycardia or cardiac arrest during perinatal transition. © 2016 S. Karger AG, Basel.

  16. Different methods for assessment of nutritional status in newborn infants based on physical and anthropometric indexes: a short review article

    Directory of Open Access Journals (Sweden)

    Ali Asghar Rashidi

    2017-01-01

    Full Text Available Several complications during childhood is associated with nutritional status of infants at birth. Therefore, nutritional status of newborns must be evaluated properly after birth. Assessment of the nutritional status of neonates based on anthropometric and physical indices is simple and inexpensive without the need for advanced medical equipment. However, no previous studies have focused on the assessment methods of the nutritional status of infants via anthropometric and physical indices. This study aimed to review some of the key methods used to determine the nutritional status of neonates using anthropometric and physical indices. To date, most studies have focused on the diagnosis of fetal malnutrition (FM and growth monitoring. In order to diagnose FM, researchers have used growth charts and Ponderal index (PI based on anthropometric indices, as well as Clinical Assessment of Nutritional (CAN Score based on physical features. Moreover, in order to assess the growth status of infants, growth charts were used. According to the findings of this study, standard intrauterine growth curves and the PI are common measurement tools in the diagnosis of FM. Furthermore, CAN score is widely used in the evaluation of the nutritional status of neonates. Given the differences in the physical features of term and preterm infants, this index should be adjusted for preterm neonates. Longitudinal growth charts are one of the most prominent methods used for monitoring of the growth patterns of infants.

  17. Antenatal smoking and substance-misuse, infant and newborn response to hypoxia

    OpenAIRE

    Ali, Kamal; Rosser, Thomas; Bhat, Ravindra; Wolff, Kim; Hannam, Simon; Rafferty, Gerrard F.; Greenough, Anne

    2016-01-01

    Objectives: To determine at the peak age for sudden infant death syndrome (SIDS) the ventilatory response to hypoxia of infants whose mothers substance misused in pregnancy (SM infants), or smoked during pregnancy (S mothers) and controls whose mothers neither substance misused or smoked. In addition, we compared the ventilatory response to hypoxia during the neonatal period and peak age of SIDS. Working hypothesis: Infants of S or SM mothers compared to control infants would have a poorer ve...

  18. Noninvasive ventilatory strategies in the management of a newborn infant and three children with congenital central hypoventilation syndrome.

    Science.gov (United States)

    Tibballs, James; Henning, Robert D

    2003-12-01

    Four children with congenital central hypoventilation syndrome (CCHS) treated with noninvasive techniques of ventilation are presented. Two infants (one in the newborn period) were treated with nasal mask bilevel positive airway pressure (BiPAP), and then both were transitioned to negative pressure chamber ventilation at several years of age because of possible midface hypoplasia. Tracheostomies were not performed. Two older children were transitioned from mechanical ventilation via tracheostomy to nasal mask BiPAP, and then in one case to negative pressure chamber ventilation, and in the other to phrenic nerve pacing. Their tracheostomies were removed. Copyright 2003 Wiley-Liss, Inc.

  19. [Using an employee survey as a means of quality assurance in newborn hearing screening].

    Science.gov (United States)

    Depenbrock, A; Matulat, P; am Zehnhoff-Dinnesen, A

    2013-03-01

    Studies drawing information not only from technical data but also from surveying human resources behind the universal newborn hearing screening (UNHS) appear to be a rarity. This study aims at showing how the state of both knowledge and practical skills among the screening staff are essential aspects in future quality management. A self-developed questionnaire was sent to hospital staff addressing a total of 710 nurses who were registered as having undertaken a UNHS training course. Questions were aimed at aspects of organization, personal practical skills, current problems and improvement possibilities. High rates of occupancy, lack of trained personnel, technical issues and background noise disturbances were considered to be factors that increased time pressure and slowed down procedures. Of the participants 16 % considered communicating a "refer" result to parents a difficult step and 8 % felt insecure when explaining the aims and procedures to parents. There was a high interest in further training sessions. This survey served well to reveal aspects of improvement in screening procedures and meeting staff needs. The training sessions should outline practical aspects of conducting screening and also professional, sensitive communication to parents.

  20. Triagem neonatal: o que os pediatras deveriam saber Newborn screening: what pediatricians should know

    Directory of Open Access Journals (Sweden)

    Letícia Lima Leão

    2008-08-01

    Full Text Available OBJETIVO: Revisão da literatura para avaliar a situação da triagem neonatal no mundo e no Brasil. Definir o papel do pediatra nos programas de triagem neonatal. FONTES DOS DADOS: Artigos científicos selecionados por meio de pesquisa feita nos sites de busca médica MEDLINE, Cochrane, PubMed (MeSH e MD Consult, usando as palavras-chave newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics e seus correspondentes em português de forma isolada e combinada, livros médicos sobre genética e erros inatos do metabolismo, publicados entre janeiro de 1998 e dezembro de 2007, manual de normas técnicas e rotinas do Programa Nacional de Triagem Neonatal, portaria 822/2001, do Ministério da Saúde. SÍNTESE DOS DADOS: Os dados da literatura mostram grande diversidade no número de doenças incluídas na triagem neonatal em cada país. No Brasil, foi criado o Programa Nacional de Triagem Neonatal em 2001, determinando a realização da triagem para fenilcetonúria, hipotireoidismo congênito, doença falciforme e fibrose cística. A triagem ampliada por espectrometria de massa é, hoje, motivo de controvérsias e discussões sobre questões financeiras e éticas. CONCLUSÕES: A triagem neonatal representa um dos principais avanços para a prevenção de doenças na pediatria. Entretanto, sua implantação é complexa, multidisciplinar, depende de políticas públicas de saúde e não há, até o momento, consenso sobre quais doenças devam ser incluídas. Diversas questões científicas e éticas precisam ser discutidas para melhor definição dos painéis a serem seguidos. O pediatra tem papel importante em todas as etapas dos programas de triagem neonatal.OBJECTIVE: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. SOURCES: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane

  1. Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France

    Directory of Open Access Journals (Sweden)

    Hamers Françoise F

    2012-06-01

    Full Text Available Abstract Background Five diseases are currently screened on dried blood spots in France through the national newborn screening programme. Tandem mass spectrometry (MS/MS is a technology that is increasingly used to screen newborns for an increasing number of hereditary metabolic diseases. Medium chain acyl-CoA dehydrogenase deficiency (MCADD is among these diseases. We sought to evaluate the cost-effectiveness of introducing MCADD screening in France. Methods We developed a decision model to evaluate, from a societal perspective and a lifetime horizon, the cost-effectiveness of expanding the French newborn screening programme to include MCADD. Published and, where available, routine data sources were used. Both costs and health consequences were discounted at an annual rate of 4%. The model was applied to a French birth cohort. One-way sensitivity analyses and worst-case scenario simulation were performed. Results We estimate that MCADD newborn screening in France would prevent each year five deaths and the occurrence of neurological sequelae in two children under 5 years, resulting in a gain of 128 life years or 138 quality-adjusted life years (QALY. The incremental cost per year is estimated at €2.5 million, down to €1 million if this expansion is combined with a replacement of the technology currently used for phenylketonuria screening by MS/MS. The resulting incremental cost-effectiveness ratio (ICER is estimated at €7 580/QALY. Sensitivity analyses indicate that while the results are robust to variations in the parameters, the model is most sensitive to the cost of neurological sequelae, MCADD prevalence, screening effectiveness and screening test cost. The worst-case scenario suggests an ICER of €72 000/QALY gained. Conclusions Although France has not defined any threshold for judging whether the implementation of a health intervention is an efficient allocation of public resources, we conclude that the expansion of the French

  2. Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.

    Science.gov (United States)

    Hamers, Françoise F; Rumeau-Pichon, Catherine

    2012-06-08

    Five diseases are currently screened on dried blood spots in France through the national newborn screening programme. Tandem mass spectrometry (MS/MS) is a technology that is increasingly used to screen newborns for an increasing number of hereditary metabolic diseases. Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is among these diseases. We sought to evaluate the cost-effectiveness of introducing MCADD screening in France. We developed a decision model to evaluate, from a societal perspective and a lifetime horizon, the cost-effectiveness of expanding the French newborn screening programme to include MCADD. Published and, where available, routine data sources were used. Both costs and health consequences were discounted at an annual rate of 4%. The model was applied to a French birth cohort. One-way sensitivity analyses and worst-case scenario simulation were performed. We estimate that MCADD newborn screening in France would prevent each year five deaths and the occurrence of neurological sequelae in two children under 5 years, resulting in a gain of 128 life years or 138 quality-adjusted life years (QALY). The incremental cost per year is estimated at €2.5 million, down to €1 million if this expansion is combined with a replacement of the technology currently used for phenylketonuria screening by MS/MS. The resulting incremental cost-effectiveness ratio (ICER) is estimated at €7 580/QALY. Sensitivity analyses indicate that while the results are robust to variations in the parameters, the model is most sensitive to the cost of neurological sequelae, MCADD prevalence, screening effectiveness and screening test cost. The worst-case scenario suggests an ICER of €72 000/QALY gained. Although France has not defined any threshold for judging whether the implementation of a health intervention is an efficient allocation of public resources, we conclude that the expansion of the French newborn screening programme to MCADD would appear to be cost

  3. Conservative treatment of congenital false joint of shin in newborns and infants

    Directory of Open Access Journals (Sweden)

    O. V. Shchokin

    2017-04-01

    Full Text Available Congenital false joint of shin occurs in 1 case per 28 000 - 190 000 live births, but it is hard-to-treat and disabling disease. Objective: Improving treatment outcomes, reducing the number of surgical interventions for the treatment of congenital false joint of shin. Materials and Methods. The method is carried out using staged plaster casts with the gradual correction of deformities. When axis of the leg approximates to the normal one, axial load is added. First, it is done by tapping on the heel. When the child was 7-8 months old he was put on the legs and taught to walk. The plaster bandage is replaced by "Scotch cast" and "soft cast" bandage. The treatment lasted up to reaching of clinical effect – correction of shin deformation and absence of pathological mobility. Clinical effect must be confirmed by roentgenography which must demonstrate filling of false joint zone with bone tissue and restoration of intramedullary canal. During all the period of treating alternate courses of electrophoresis with calcium chloride, medical mud extracts and magnetic therapy are conducted. In the period from 1995 till 2015 in the Regional Zaporizhzhia Children Clinical Hospital 4 children (6 shins aged from 1 to 7 months with false joint of shin were treated using proposed method. Results and discussion. All 4 children (6 shins treated in clinic with proposed conservative method showed filling of false joint zone with bone tissue, restoration of intramedullary canal and significant extension of axis of the shin. The load on the leg in early terms results in compression of bone fragments (as in compression-distraction osteosynthesis, magnetic therapy, electrophoresis with calcium chloride and medical mud extracts promote active functioning of the muscles that improves regional blood supply and improves osteogenesis. Conclusions. Using the proposed method of treatment of congenital false joint of shins in newborns and infants can allow avoiding surgical

  4. Discordant expression of pro-B-type and pro-C-type natriuretic peptide in newborn infants of mothers with type 1 diabetes

    DEFF Research Database (Denmark)

    Nybo, Mads; Nielsen, Lars Bo; Nielsen, Søren Junge

    2007-01-01

    CNP-derived peptides in newborn infants. METHODS: Plasma concentrations of proCNP-derived peptides were measured in umbilical cord plasma and human placental tissue extracts using sequence-specific radioimmunoassays raised against N-terminal and C-terminal proCNP regions, respectively. RESULTS: The median pro...... in umbilical cord plasma compared to adult plasma (4.6 vs. 1.1), which parallels our earlier findings for proBNP and BNP peptides. CONCLUSIONS: There is a discordant expression of CNP and BNP peptides in newborn infants of mothers with diabetes. Moreover, fetal metabolism of proCNP and CNP appears to differ...

  5. Imaging evaluation of infants with neuroblastoma detected by VMA screening spot test

    International Nuclear Information System (INIS)

    Fujioka, M.; Saiki, N.; Aihara, T.; Yamamoto, K.

    1988-01-01

    In the Saitama Prefecture in Japan, VMA (vanillyl manderic acid) screening spot test for detection of neuroblastoma has been performed in 173,046 infants in the years 1981-1986 and 15 infants were found to have neuroblastoma. Two infants had mediastinal tumors and the remainder, 13, had intraabdominal tumors. Only 7 infants had palpable masses. Although CT was documented to be the best imaging procedure to provide sufficient information for treatment, conventional radiographic examinations of the chest and abdomen, and abdominal ultrasonography were able, as initial imaging procedures, to detect reasonably small neuroblastomas in infants with a positive VMA screening test. (orig.)

  6. Putting newborn hearing screening on the political agenda in Belgium: local initiatives toward a community programme - a qualitative study.

    Science.gov (United States)

    Vos, Bénédicte; Lagasse, Raphaël; Levêque, Alain

    2014-07-01

    The Kingdon model, based on the convergence of three streams (problem, policy, and politics) and the opening of a policy window, analyses the process by which a health issue is placed on the political agenda. We used this model to document the political agenda-setting process of the newborn hearing screening programme in Belgium. A qualitative study based on a document review and on semi-directed interviews was carried out. The interviews were conducted with nine people who had played a role in putting the issue in question on the political agenda, and the documents reviewed included scientific literature and internal reports and publications from the newborn hearing screening programme. The thematic analysis of the data collected was carried out on the basis of the Kingdon model's three streams. The political agenda-setting of this screening programme was based on many factors. The problem stream included factors external to the context under study, such as the technological developments and the contribution of the scientific literature which led to the recommendation to provide newborn hearing screening. The two other streams (policy and politics) covered factors internal to the Belgian context. The fact that it was locally feasible with financial support, the network of doctors convinced of the need for newborn hearing screening, the drafting of various proposals, and the search for financing were all part of the policy stream. The Belgian political context and the policy opportunities concerning preventive medicine were identified as significant factors in the third stream. When these three streams converged, a policy window opened, allowing newborn hearing screening onto the political agenda and enabling the policy decision for its introduction. The advantage of applying the Kingdon model in our approach was the ability to demonstrate the political agenda-setting process, using the three streams. This made it possible to identify the many factors involved in

  7. Tc-99m-labeled red blood cells for the measurement of red cell mass in newborn infants: concise communication

    International Nuclear Information System (INIS)

    Linderkamp, O.; Betke, K.; Fendel, H.; Klemm, J.; Lorenzen, K.; Riegel, K.P.

    1980-01-01

    In vitro and in vivo investigations were performed to examine the binding of Tc-99m to neonatal red blood cells (RBC). Labeling efficiency was about 90%, and unbound Tc-99m less than 3% after one washing, in premature and full-term newborns and in children. Thus presence of high percentages of fetal hemoglobin (Hb F) did not influence the labeling of RBCs with Tc-99m. RBCs of 11 newborns were hemolysed and the distribution of Tc-99m on RBC components was analyzed. Although Hb F percentage averaged (60.0 +- 8.10)% (s.d.), only (11.9 +- 3.7)% of Tc-99m was bound by Hb F, whereas (45.0 +- 6.1)% was associated with Hb A. RBC membranes bound (13.7 +- 4.3)% and (29.3 +- 4.0)% were found unbound in hemolysates. These results indicate that Tc-99m preferentially binds to beta chains. In vivo equilibration of Tc-99m RBCs and of albumin labeled with Evans blue was investigated in five newborn infants. Tc-99m RBCs were stable in each case during the first hour after injection. Elution of Tc-99m from RBCs was (3.4 +- 1.5)% per h. Body-to-venous hematocrit ratio averaged 0.86 +- 0.03

  8. Noninvasive monitoring of gas in the lungs and intestines of newborn infants using diode lasers: feasibility study.

    Science.gov (United States)

    Lundin, Patrik; Svanberg, Emilie Krite; Cocola, Lorenzo; Lewander Xu, Märta; Somesfalean, Gabriel; Andersson-Engels, Stefan; Jahr, John; Fellman, Vineta; Svanberg, Katarina; Svanberg, Sune

    2013-12-01

    Preterm newborn infants have a high morbidity rate. The most frequently affected organs where free gas is involved are the lungs and intestines. In respiratory distress syndrome, both hyperexpanded and atelectatic (collapsed) areas occur, and in necrotizing enterocolitis, intramural gas may appear in the intestine. Today, these conditions are diagnosed with x-ray radiography. A bed-side, rapid, nonintrusive, and gas-specific technique for in vivo gas sensing would improve diagnosis. We report the use of noninvasive laser spectroscopy, for the first time, to assess gas content in the lungs and intestines of three full-term infants. Water vapor and oxygen were studied with two low-power diode lasers, illuminating the skin and detecting light a few centimeters away. Water vapor was easily detected in the intestines and was also observed in the lungs. The relatively thick chest walls of the infants prevented detection of the weaker oxygen signal in this study. However, results from a previous phantom study, together with scaling of the results presented here to the typical chest-wall thickness of preterm infants, suggest that oxygen also should be detectable in their lungs.

  9. Statistical modeling of the mother-baby system in newborn infants with cerebral ischemia

    Directory of Open Access Journals (Sweden)

    A. V. Filonenko

    2014-01-01

    Full Text Available The statistical model could consider the influence of specific maternal psychoemotional and personality factors on a newborn with cerebral ischemia and develop a procedure to prevent negative consequences of postpartum depression in the mother-baby system.

  10. After the Introduction into the National Newborn Screening Program : Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

    NARCIS (Netherlands)

    Kaufmann, J. O.; Krapels, I. P. C.; Van Brussel, B. T. J.; Zekveld-Vroon, R. C.; Oosterwijk, J. C.; van Erp, F.; van Echtelt, J.; Zwijnenburg, P. J. G.; Petrij, F.; Bakker, E.; Giordano, P. C.

    2014-01-01

    OBJECTIVE: Universal newborn screening for hemoglobinopathies started in The Netherlands in 2007. Herewith severe conditions, such as sickle cell disease, β-thalassemia major and hemoglobin H disease are putatively identified. Additionally, at least 1,800 carriers of hemoglobin variants associated

  11. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening

    DEFF Research Database (Denmark)

    Pedersen, Christina B; Bischoff, Claus; Christensen, Ernst

    2006-01-01

    or compound heterozygous for variations in the IBD gene have been reported. We present IBD deficiency in an additional four newborns with elevated C(4)-carnitine identified by tandem mass spectrometry (MS/MS) screening in Denmark and the United States. Three showed urinary excretions of isobutyryl...

  12. Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen.

    Science.gov (United States)

    Fogel, Benjamin N; Nguyen, Hong Loan T; Smink, Gayle; Sekhar, Deepa L

    2018-04-01

    We conducted an inventory of state-based recommendations for follow-up of alpha thalassemia silent carrier and trait identified on newborn screen. We found wide variability in the nature and timing of these recommendations. We recommend a standardized recommendation to guide pediatricians in evidenced-based care for this population. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. The effect of improved compliance with hygiene guidelines on transmission of Staphylococcus aureus to newborn infants: the Swedish Hygiene Intervention and Transmission of S aureus study.

    Science.gov (United States)

    Mernelius, Sara; Löfgren, Sture; Lindgren, Per-Eric; Blomberg, Marie; Olhager, Elisabeth; Gunnervik, Christina; Lenrick, Raymond; Thrane, Malena Tiefenthal; Isaksson, Barbro; Matussek, Andreas

    2013-07-01

    Newborn infants are often colonized with Staphylococcus aureus originating from health care workers (HCWs). We therefore use colonization with S aureus of newborn infants to determine the effect of an improved compliance with hygiene guidelines on bacterial transmission. Compliance with hygiene guidelines was monitored prior to (baseline) and after (follow-up) a multimodal hygiene intervention in 4 departments of obstetrics and gynecology. spa typing was used to elucidate transmission routes of S aureus collected from newborn infants, mothers, fathers, staff members, and environment. The compliance with hygiene guidelines increased significantly from baseline to follow-up. The transmission of S aureus from HCWs to infants was however not affected. Fathers had the highest colonization rates. Persistent carriage was indicated in 18% of the HCWs. The most commonly isolated spa type was t084, which was not detected in a previous study from the same geographic area. It is possible to substantially improve the compliance with hygiene guidelines, by using multimodal hygiene intervention. The improved compliance did not decrease the transmission of S aureus from sources outside the own family to newborn infants. Furthermore, we show the establishment of a new spa type (t084), which now is very common in our region. Copyright © 2013 Association for Professionals in Infection Control and Epidemiology, Inc. Published by Mosby, Inc. All rights reserved.

  14. Parental Intentions to Enroll Children in a Voluntary Expanded Newborn Screening Program

    Science.gov (United States)

    Paquin, Ryan S.; Peay, Holly L.; Gehtland, Lisa M.; Lewis, Megan A.; Bailey, Donald B.

    2016-01-01

    Background and Objectives Nearly all babies in the United States are tested at birth for rare, serious, and treatable disorders through mandatory state newborn screening (NBS). Recently, there have been calls for an expanded, voluntary model to facilitate early diagnosis and treatment of a wider range of disorders. We applied the reasoned action framework to examine parental intentions to participate in voluntary expanded screening. Methods We recruited a national cohort of recent and expectant parents living in the U.S. who completed a self-administered online survey (N = 1,001). Using a mixed-level fractional factorial experiment, we studied parental participation intentions and preferences for timing of consent, cost, consent format, and testing options. Results We conducted a hierarchical regression analysis assessing parental intentions to participate in voluntary expanded NBS. Attitudes, perceived normative influence, and perceived behavioral control explained substantial variance in intention, with perceived normative influence emerging as the strongest predictor. We found no evidence that the manipulated program features altered mean levels of intention, but timing of parental permission, cost, and permission format moderated the relative importance of reasoned action constructs on intention. Conclusion Program design features may impact the psychological mechanisms underlying parental decision making for voluntary expanded screening. These results have important implications for parent education, outreach, and informed parental permission procedures. PMID:27526258

  15. Parental intentions to enroll children in a voluntary expanded newborn screening program.

    Science.gov (United States)

    Paquin, Ryan S; Peay, Holly L; Gehtland, Lisa M; Lewis, Megan A; Bailey, Donald B

    2016-10-01

    Nearly all babies in the United States are tested at birth for rare, serious, and treatable disorders through mandatory state newborn screening (NBS). Recently, there have been calls for an expanded, voluntary model to facilitate early diagnosis and treatment of a wider range of disorders. We applied the reasoned action framework to examine parental intentions to participate in voluntary expanded screening. We recruited a national cohort of recent and expectant parents living in the U.S. who completed a self-administered online survey (N = 1001). Using a mixed-level fractional factorial experiment, we studied parental participation intentions and preferences for timing of consent, cost, consent format, and testing options. We conducted a hierarchical regression analysis assessing parental intentions to participate in voluntary expanded NBS. Attitudes, perceived normative influence, and perceived behavioral control explained substantial variance in intention, with perceived normative influence emerging as the strongest predictor. We found no evidence that the manipulated program features altered mean levels of intention, but timing of parental permission, cost, and permission format moderated the relative importance of reasoned action constructs on intention. Program design features may impact the psychological mechanisms underlying parental decision making for voluntary expanded screening. These results have important implications for parent education, outreach, and informed parental permission procedures. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. Tele-health: assessment of websites on newborn hearing screening in Portuguese Language.

    Science.gov (United States)

    Chaves, Juliana Nogueira; Libardi, Ana Lívia; Agostinho-Pesse, Raquel Sampaio; Morettin, Marina; Alvarenga, Kátia de Freitas

    2015-01-01

    To verify the aspects of technical quality and the content of websites on neonatal hearing screening in Portuguese. Eighteen audiologists, invited to participate according to the inclusion criteria, selected descriptors of websites for research using the Delphi technique. Later, they were fed into Google Trends to get the possible terms to be used by parents in finding information on the Internet about the subject. They were then fed into Google to search the websites. The following assessment instruments were used: list of topics on newborn hearing screening, Flesch Reading Ease Score Formula, Health-Related Web Site Evaluation Emory Form, and PageRank. The most discussed topics in the 19 websites were on the objectives and benefits of neonatal hearing screening, as well as the process of audiological diagnosis. The least discussed were about the false-negative result, development of hearing and language, false-positive results, audiologic, interpretation of results - "Pass"/"Do not pass", retest, and protocol. Difficult reading level was prevalent, with aspects of technical quality considered the best quality-related content, audience, navigation, and structure. The results also showed there is no culture of inserting links on Brazilian national websites, so they had little relevance on Google. The sites differed in the aspects addressed because there is a need to revise the reading level of the content and quality of the technical aspects regarding the accuracy and timeliness of information, authorship, and links.

  17. Heptadecanoylcarnitine (C17) a novel candidate biomarker for propionic and methylmalonic acidemias during expanded newborn screening

    Science.gov (United States)

    Malvagia, Sabrina; Haynes, Christopher A.; Grisotto, Laura; Ombrone, Daniela; Funghini, Silvia; Moretti, Elisa; McGreevy, Kathleen; Buggeri, Annibale; Guerrini, Renzo; Yahyaoui, Raquel; Garg, Uttam; Seeterlin, Mary; Chace, Donald; De Jesus, Victor; la Marca, Giancarlo

    2017-01-01

    Background 3-hydroxypalmitoleoyl-carnitine (C16:1-OH) was recently reported to be elevated in acylcarnitine profile of propionic acidemia (PA) or methylmalonic acidemia (MMA) patients during expanded newborn screening (NBS). High levels of C16:1-OH, combined with other hydroxylated long chain acylcarnitines are related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). Methods The acylcarnitine profile of two LCHADD patients was evaluated using liquid chromatography-tandem mass spectrometric method. A specific retention time was reported for each hydroxylated long chain acylcarnitine. The same method was applied to some neonatal dried blood spots (DBS) from PA and MMA patients presenting abnormal C16:1-OH concentrations. Results The final retention time of the peak corresponding to C16:1-OH in LCHADD patients differed from those in MMA and PA patients. Heptadecanoylcarnitine (C17) has been identified as the novel biomarker specific for PA and MMA patients through high resolution mass spectrometry (Orbitrap) experiments. We found that 21 out of 23 neonates (22 MMA, and 1PA) diagnosed through the Tuscany region NBS program had significantly higher levels of C17 compared to levels detected in controls. Twenty-three maternal deficiencies (21 vitamin B12 deficiency, 1 homocystinuria and 1 gastrin deficiency) and 82 false positive for propionylcarnitine (C3) results were also analyzed. Conclusions This paper reports on the characterization of a novel biomarker able to detect propionate disorders during expanded newborn screening (NBS). The use of this new biomarker may improve the analytical performances of NBS programs especially in laboratories where second tier tests are not performed. PMID:26368264

  18. Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.

    Science.gov (United States)

    Malvagia, Sabrina; Haynes, Christopher A; Grisotto, Laura; Ombrone, Daniela; Funghini, Silvia; Moretti, Elisa; McGreevy, Kathleen S; Biggeri, Annibale; Guerrini, Renzo; Yahyaoui, Raquel; Garg, Uttam; Seeterlin, Mary; Chace, Donald; De Jesus, Victor R; la Marca, Giancarlo

    2015-10-23

    3-Hydroxypalmitoleoyl-carnitine (C16:1-OH) has recently been reported to be elevated in acylcarnitine profiles of patients with propionic acidemia (PA) or methylmalonic acidemia (MMA) during expanded newborn screening (NBS). High levels of C16:1-OH, combined with other hydroxylated long chain acylcarnitines are related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and trifunctional protein (TFP) deficiency. The acylcarnitine profile of two LCHADD patients was evaluated using liquid chromatography-tandem mass spectrometric method. A specific retention time was determined for each hydroxylated long chain acylcarnitine. The same method was applied to some neonatal dried blood spots (DBSs) from PA and MMA patients presenting abnormal C16:1-OH concentrations. The retention time of the peak corresponding to C16:1-OH in LCHADD patients differed from those in MMA and PA patients. Heptadecanoylcarnitine (C17) has been identified as the novel biomarker specific for PA and MMA patients through high resolution mass spectrometry (Orbitrap) experiments. We found that 21 out of 23 neonates (22 MMA, and 1PA) diagnosed through the Tuscany region NBS program exhibited significantly higher levels of C17 compared to controls. Twenty-three maternal deficiency (21 vitamin B12 deficiency, 1 homocystinuria and 1 gastrin deficiency) samples and 82 false positive for elevated propionylcarnitine (C3) were also analyzed. We have characterized a novel biomarker able to detect propionate disorders during expanded newborn screening (NBS). The use of this new biomarker may improve the analytical performances of NBS programs especially in laboratories where second tier tests are not performed. Copyright © 2015 Elsevier B.V. All rights reserved.

  19. Chlamydia trachomatis Infections: Implications for Pregnant Adolescents and Their Infants

    Directory of Open Access Journals (Sweden)

    Marlene Melzer-Lange

    1994-01-01

    trachomatis in pregnant adolescents. This study was undertaken to determine if aggressive screening for C. trachomatis in pregnant adolescents and early treatment with erythromycin can prevent complications in their newborn infants.

  20. Impaired autoregulation of cerebral blood flow in the distressed newborn infant

    DEFF Research Database (Denmark)

    Lou, H C; Lassen, N A; Friis-Hansen, B

    1979-01-01

    Cerebral blood flow was measured, using the 133Xe clearance technique, a few hours after birth in 19 infants with varying degrees of respiratory distress syndrome. Ten of these infants had had asphyxia at birth. The least affected infants with normotension (systolic blood pressure 60 to 65 mm Hg......) had CBF values of about 40 ml/100 gm/minute. Hypotensive infants with asphyxia at birth or RDS or both had values for CBF of about 20 ml/100 gm/minute, or less. CBF was strongly correlated with the arterial blood pressure, showing a linear relationship that was identical in infants with asphyxia...

  1. Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program.

    Science.gov (United States)

    Sabarense, Alessandra P; Lima, Gabriella O; Silva, Lívia M L; Viana, Marcos Borato

    2015-01-01

    To characterize the deaths of 193 children with sickle cell disease screened by a neonatal program from 1998 to 2012 and contrast the initial years with the final years. Deaths were identified by active surveillance of children absent to scheduled appointments in Blood Bank Clinical Centers (Hemominas). Clinical and epidemiological data came from death certificates, neonatal screening database, medical records, and family interviews. Between 1998 and 2012, 3,617,919 children were screened and 2,591 had sickle cell disease (1:1,400). There were 193 deaths (7.4%): 153 with SS/Sβ(0)-thalassemia, 34 SC and 6 Sβ(+)thalassemia; 76.7% were younger than five years; 78% died in the hospital and 21% at home or in transit. The main causes of death were infection (45%), indeterminate (28%), and acute splenic sequestration (14%). In 46% of death certificates, the term "sickle cell" was not recorded. Seven-year death rate for children born between 1998 and 2005 was 5.43% versus 5.12% for those born between 2005 and 2012 (p = 0.72). Medical care was provided to 75% of children; 24% were unassisted. Medical care was provided within 6 hours of symptom onset in only half of the interviewed cases. In 40.5% of cases, death occurred within the first 24 hours. Low family income was recorded in 90% of cases, and illiteracy in 5%. Although comprehensive and effective, neonatal screening for sickle cell disease was not sufficient to significantly reduce mortality in a newborn screening program. Economic and social development and increase of the knowledge on sickle cell disease among health professionals and family are needed to overcome excessive mortality. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  2. Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program

    Directory of Open Access Journals (Sweden)

    Alessandra P. Sabarense

    2015-06-01

    Full Text Available OBJECTIVE: To characterize the deaths of 193 children with sickle cell disease screened by a neonatal program from 1998 to 2012 and contrast the initial years with the final years. METHODS: Deaths were identified by active surveillance of children absent to scheduled appointments in Blood Bank Clinical Centers (Hemominas. Clinical and epidemiological data came from death certificates, neonatal screening database, medical records, and family interviews. RESULTS: Between 1998 and 2012, 3,617,919 children were screened and 2,591 had sickle cell disease (1:1,400. There were 193 deaths (7.4%: 153 with SS/Sß0-talassemia, 34 SC and 6 Sß+thalassemia; 76.7% were younger than five years; 78% died in the hospital and 21% at home or in transit. The main causes of death were infection (45%, indeterminate (28%, and acute splenic sequestration (14%. In 46% of death certificates, the term "sickle cell" was not recorded. Seven-year death rate for children born between 1998 and 2005 was 5.43% versus 5.12% for those born between 2005 and 2012 (p = 0.72. Medical care was provided to 75% of children; 24% were unassisted. Medical care was provided within 6 hours of symptom onset in only half of the interviewed cases. In 40.5% of cases, death occurred within the first 24 hours. Low family income was recorded in 90% of cases, and illiteracy in 5%. CONCLUSIONS: Although comprehensive and effective, neonatal screening for sickle cell disease was not sufficient to significantly reduce mortality in a newborn screening program. Economic and social development and increase of the knowledge on sickle cell disease among health professionals and family are needed to overcome excessive mortality.

  3. Screening of Pregnant Women for Anti-Toxoplasma Antibodies and their Newborn for Vertical Transmission

    Directory of Open Access Journals (Sweden)

    Aysha Yasmeen

    2017-10-01

    the pregnant women in Kolar region, possess anti-Toxoplasma IgG antibodies and are immune to toxoplasmosis. The rest, constituting a large proportion, are susceptible and run the risk of infection during pregnancy. Routine screening of women for Toxoplasma infections during pregnancy and screening of newborns for congenital toxoplasmosis are recommended.

  4. In utero exposure to dioxins and dioxin-like compounds and anogenital distance in newborns and infants.

    Science.gov (United States)

    Vafeiadi, Marina; Agramunt, Silvia; Papadopoulou, Eleni; Besselink, Harrie; Mathianaki, Kleopatra; Karakosta, Polyxeni; Spanaki, Ariana; Koutis, Antonis; Chatzi, Leda; Vrijheid, Martine; Kogevinas, Manolis

    2013-01-01

    Anogenital distance in animals is used as a measure of fetal androgen action. Prenatal exposure to dioxins and dioxin-like compounds in rodents causes reproductive changes in male offspring and decreases anogenital distance. We assessed whether in utero exposure to dioxins and dioxin-like compounds adversely influences anogenital distance in newborns and young children (median age, 16 months; range, 1-31 months). We measured anogenital distance among participants of the "Rhea" mother-child cohort study in Crete and the Hospital del Mar (HMAR) cohort in Barcelona. Anogenital distance (AGD; anus to upper penis), anoscrotal distance (ASD; anus to scrotum), and penis width (PW) were measured in 119 newborn and 239 young boys; anoclitoral (ACD; anus to clitoris) and anofourchetal distance (AFD; anus to fourchette) were measured in 118 newborn and 223 young girls. We estimated plasma dioxin-like activity in maternal blood samples collected at delivery with the Dioxin-Responsive Chemically Activated LUciferase eXpression (DR CALUX®) bioassay. Anogenital distances were sexually dimorphic, being longer in males than females. Plasma dioxin-like activity was negatively associated with AGD in male newborns. The estimated change in AGD per 10 pg CALUX®-toxic equivalent/g lipid increase was -0.44 mm (95% CI: -0.80, -0.08) after adjusting for confounders. Negative but smaller and nonsignificant associations were observed for AGD in young boys. No associations were found in girls. Male infants may be susceptible to endocrine-disrupting effects of dioxins. Our findings are consistent with the experimental animal evidence used by the Food and Agriculture Organization/World Health Organization to set recommendations for human dioxin intake.

  5. A Picture You Can Handle: Infants Treat Touch-Screen Images More Like Photographs than Objects.

    Science.gov (United States)

    Ziemer, Christine J; Snyder, Makenna

    2016-01-01

    Infants actively explore their world in order to determine the different ways in which they can interact with various objects. Although research on infant perception has focused on how infants understand the differences between 2- and 3-dimensional objects, today's infants increasingly encounter 2D images with interactive qualities on smart-phone screens, tablets, and laptops. The purpose of this experiment was to examine the types of manual behaviors infants direct toward tablet images and to compare these actions to those evoked by 2D photographs or 3D when tactile feedback is controlled. Infants between the ages of 7-10 months sat on their parent's lap in front of a table with a built-in well covered by a clear, plastic sheet while the three types of displays (photographs, objects, and screen images on a tablet) were presented for 30 s each. Infants saw three examples of each type of display presented in the built-in well so that tactile feedback information from the different displays was controlled. Coders noted the proportion of trials in which infants grasped, scratched, rubbed, or patted the display. Results indicate that infants direct significantly more grasps, scratches, and rubs toward 3D objects than 2D photographs. Infants also direct more grasps to objects compared to screen images. Our data suggests that infants are treating screen images more similarly to 2D photographs than 3D objects.

  6. A Picture You Can Handle: Infants Treat Touch-Screen Images More Like Photographs than Objects

    Directory of Open Access Journals (Sweden)

    Christine J Ziemer

    2016-08-01

    Full Text Available Infants actively explore their world in order to determine the different ways in which they can interact with various objects. Although research on infant perception has focused on how infants understand the differences between 2- and 3-dimensional objects, today’s infants increasingly encounter 2D images with interactive qualities on smart-phone screens, tablets, and laptops. The purpose of this experiment was to examine the types of manual behaviors infants direct towards tablet images and to compare these actions to those evoked by 2D photographs or 3D when tactile feedback is controlled. Infants between the ages of 7-10 months sat on their parent’s lap in front of a table with a built-in well covered by a clear, plastic sheet while the three types of displays (photographs, objects, and screen images on a tablet were presented for 30 seconds each. Infants saw three examples of each type of display presented in the built-in well so that tactile feedback information from the different displays was controlled. Coders noted the proportion of trials in which infants grasped, scratched, rubbed, or patted the display. Results indicate that infants direct significantly more grasps, scratches, and rubs towards 3D objects than 2D photographs. Infants also direct more grasps to objects compared to screen images. Our data suggests that infants are treating screen images more similarly to 2D photographs than 3D objects.

  7. Radiological evaluation of the lungs in children with cystic fibrosis diagnosed during newborn screening examinations

    International Nuclear Information System (INIS)

    Iwanowska, B.; Kopys-Wiszniewska, I.; Sands, D.

    2006-01-01

    Cystic fibrosis is an inherited, autosomal, recessive disease. This disorder is caused by defects in the gene for cystic fibrosis transmembrane conductance regulator (CFTR), which encodes for a protein that functions as a chloride channel. Mutations in the gene for CFTR result in ion disorders, and consequently in disturbances of exocrine glands in the respiratory, gastrointestinal, and genitourinary tracts. Pulmonary involvement occurs in 90% of patients, and is the main cause of death. The diagnosis of CF in Poland is based on clinical symptoms and positive results of the sweat test. Diacrisis is usually reached late in the 3 rd year of life. In 1999-2003, newborn screening examinations were performed at the Mother and Child Institute. The idea of these studies was to establish a diagnosis and begin treatment as early as possible, even in the asymptomatic period of the disease. The level of immunoreactive trypsinogen was determined in the blood of 4-6-day-old newborns, as well as the mutation of gene CFTR. The mean age of CF diagnosis was about 38 days. The aim of our study was to assess the influence of early commencement of treatment on the rapidity of progression of pulmonary involvement. 59 children with CF diagnosed by screening were examined by chest radiography in various periods of the disease, the earliest in the neonatal period. Pulmonary involvement (hyperinflation, periobronchial thickening, pulmonary nodules, cysts, parenchymal density, atelectasis and fibrous changes) were assessed according to Brasfield score. The control group consisted of 19 children with symptomatic CF, born in 1997-2003.They were also examined by chest radiography. Various pulmonary changes were recognized in 42 children diagnosed by screening. In the control group pulmonary involvement was found in 16 children. In both groups progression was found in 28% of the children, but significant progression was seen in 7% of those children with a screening diagnosis, and in 25% of the

  8. Outbreak of Late-onset Group B Streptococcal Infections in Healthy Newborn Infants after Discharge from a Maternity Hospital: A Case Report

    OpenAIRE

    Kim, Hyung Jin; Kim, Soo Young; Seo, Won Hee; Choi, Byung Min; Yoo, Young; Lee, Kee Hyoung; Eun, Baik Lin; Kim, Hai Joong

    2006-01-01

    During a four-week period, four healthy term newborn infants born at a regional maternity hospital in Korea developed late-onset neonatal group B Streptococcus (GBS) infections, after being discharged from the same nursery. More than 10 days after their discharge, all of the infants developed fever, lethargy, and poor feeding behavior, and were subsequently admitted to the Korea University Medical Center, Ansan Hospital. GBS was isolated from the blood cultures of three babies; furthermore, G...

  9. Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry

    Directory of Open Access Journals (Sweden)

    Susan Elliott

    2016-09-01

    Full Text Available In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, Niemann-Pick-A/B, Gaucher, and Krabbe, (Elliott, et al., 2016 [1]. We also provide the mass spectrometry peak areas for the product and internal standard ions typically observed with a dried blood spot punch from a random newborn, and we provide the daily variation of the daily mean activities for all 6 enzymes.

  10. Beyond Critical Congenital Heart Disease: Newborn Screening Using Pulse Oximetry for Neonatal Sepsis and Respiratory Diseases in a Middle-Income Country.

    Science.gov (United States)

    Jawin, Vida; Ang, Hak-Lee; Omar, Asma; Thong, Meow-Keong

    2015-01-01

    Studies on pulse oximetry screening for neonatal sepsis and respiratory disease in a middle-income country are lacking. Newborn screening for critical congenital heart disease (CCHD) using pulse oximetry is an effective and life-saving strategy in developed countries. While most studies have reported false-positive results during CCHD screening, they have not elaborated on the detected disease types. We studied the effectiveness and outcomes of pulse oximetry newborn screening for non-cardiac hypoxemic diseases such as neonatal sepsis, respiratory diseases, and CCHD in a middle-income country. In a pilot study performed at the University Malaya Medical Centre (UMMC), Malaysia, all apparently healthy term newborns, delivered at UMMC were screened pre-discharge using pulse oximetry. Echocardiography was performed for newborns that had positive screening results on two separate occasions, 1-h apart. Newborns with normal echocardiograms were evaluated and treated for other non-cardiac diseases. Fifteen of 5247 term newborns had positive screening results. The median age at screening was 20 h. Thirteen newborns (0.24%) had significant non-cardiac diseases: sepsis (n = 2) and respiratory diseases (n = 11) that required hospitalization and treatment. The remaining two newborns with normal antenatal ultrasonograms had positive screening test and confirmed to have CCHD. Another 18 newborns with negative screening test were later admitted for treatment of sepsis (n = 16) and penumonia (n = 2). All newborns were treated and alive at the end of the study. The sensitivity and specificity of pulse oximetry screening for non-cardiac diseases were 42% and 99.9% respectively, and 100% and 99.7% for CCHD, respectively. Routine pulse oximetry screening test was effective in identifying newborns with CCHD and other hypoxemia illnesses, which may led to potential life-threatening condition. This study showed that the expanded use of pulse oximetry has immediate implications for low

  11. Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

    Directory of Open Access Journals (Sweden)

    Mengel Eugen

    2011-06-01

    Full Text Available Abstract Background National newborn screening programmes based on tandem-mass spectrometry (MS/MS and other newborn screening (NBS technologies show a substantial variation in number and types of disorders included in the screening panel. Once established, these methods offer the opportunity to extend newborn screening panels without significant investment and cost. However, systematic evaluations of newborn screening programmes are rare, most often only describing parts of the whole process from taking blood samples to long-term evaluation of outcome. Methods In a prospective single screening centre observational study 373 cases with confirmed diagnosis of a metabolic disorder from a total cohort of 1,084,195 neonates screened in one newborn screening laboratory between January 1, 1999, and June 30, 2009 and subsequently treated and monitored in five specialised centres for inborn errors of metabolism were examined. Process times for taking screening samples, obtaining results, initiating diagnostic confirmation and starting treatment as well as the outcome variables metabolic decompensations, clinical status, and intellectual development at a mean age of 3.3 years were evaluated. Results Optimal outcome is achieved especially for the large subgroup of patients with medium-chain acyl-CoA dehydrogenase deficiency. Kaplan-Meier-analysis revealed disorder related patterns of decompensation. Urea cycle disorders, organic acid disorders, and amino acid disorders show an early high and continuous risk, medium-chain acyl-CoA dehydrogenase deficiency a continuous but much lower risk for decompensation, other fatty acid oxidation disorders an intermediate risk increasing towards the end of the first year. Clinical symptoms seem inevitable in a small subgroup of patients with very early disease onset. Later decompensation can not be completely prevented despite pre-symptomatic start of treatment. Metabolic decompensation does not necessarily result in

  12. Outcomes of very low birth weight infants in a newborn tertiary center in Turkey, 1997-2000.

    Science.gov (United States)

    Atasay, Begüm; Günlemez, Ayla; Unal, Sevim; Arsan, Saadet

    2003-01-01

    .3%) of the infants, respectively. Overall survival rate was 83.5% (111/133); most of the deceased cases were under 750 g (12/22). It was prospectively shown that 111 (100%) of the surviving infants could be regularly followed in a newborn follow-up clinic to provide health maintenance, developmental assessment and support. Compared with reports from other developing countries, VLBW infants at our center had higher survival rates. Compared to developed countries, survival rate was lower, especially for extremely very low birth weight infants. There is interaction between birth weight and survival rate. Among selected neonatal outcomes, chronic lung disease, threshold retinopathy, severe intraventricular hemorrhage (IVH > or = grade III) and nosocomial infection rates at this center were comparable with some reports from developed nations.

  13. Ethical, legal, and social issues in health technology assessment for prenatal/preconceptional and newborn screening: a workshop report.

    Science.gov (United States)

    Potter, B K; Avard, D; Entwistle, V; Kennedy, C; Chakraborty, P; McGuire, M; Wilson, B J

    2009-01-01

    Prenatal/preconceptional and newborn screening programs have been a focus of recent policy debates that have included attention to ethical, legal, and social issues (ELSIs). In parallel, there has been an ongoing discussion about whether and how ELSIs may be addressed in health technology assessment (HTA). We conducted a knowledge synthesis study to explore both guidance and current practice regarding the consideration of ELSIs in HTA for prenatal/preconceptional and newborn screening. As the concluding activity for this project, we held a Canadian workshop to discuss the issues with a diverse group of stakeholders. Based on key workshop themes integrated with our study results, we suggest that population-based genetic screening programs may present particular types of ELSIs and that a public health ethics perspective is potentially highly relevant when considering them. We also suggest that approaches to addressing ELSIs in HTA for prenatal/preconceptional and newborn screening may need to be flexible enough to respond to diversity in HTA organizations, cultural values, stakeholder communities, and contextual factors. Finally, we highlight a need for transparency in the way that HTA producers move from evidence to conclusions and the ways in which screening policy decisions are made. Copyright © 2008 S. Karger AG, Basel.

  14. Effect of hematocrit and systolic blood pressure on cerebral blood flow in newborn infants

    International Nuclear Information System (INIS)

    Younkin, D.P.; Reivich, M.; Jaggi, J.L.; Obrist, W.D.; Delivoria-Papadopoulos, M.

    1987-01-01

    The effects of hematocrit and systolic blood pressure on cerebral blood flow were measured in 15 stable, low birth weight babies. CBF was measured with a modification of the xenon-133 ( 133 Xe) clearance technique, which uses an intravenous bolus of 133 Xe, an external chest detector to estimate arterial 133 Xe concentration, eight external cranial detectors to measure cephalic 133 Xe clearance curves, and a two-compartmental analysis of the cephalic 133 Xe clearance curves to estimate CBF. There was a significant inverse correlation between hematocrit and CBF, presumably due to alterations in arterial oxygen content and blood viscosity. Newborn CBF varied independently of systolic blood pressure between 60 and 84 mm Hg, suggesting an intact cerebrovascular autoregulatory mechanism. These results indicate that at least two of the factors that affect newborn animal CBF are operational in human newborns and may have important clinical implications

  15. Funding Decisions for Newborn Screening: A Comparative Review of 22 Decision Processes in Europe

    Directory of Open Access Journals (Sweden)

    Katharina Elisabeth Fischer

    2014-05-01

    Full Text Available Decision-makers need to make choices to improve public health. Population-based newborn screening (NBS is considered as one strategy to prevent adverse health outcomes and address rare disease patients’ needs. The aim of this study was to describe key characteristics of decisions for funding new NBS programmes in Europe. We analysed past decisions using a conceptual framework. It incorporates indicators that capture the steps of decision processes by health care payers. Based on an internet survey, we compared 22 decisions for which answers among two respondents were validated for each observation. The frequencies of indicators were calculated to elicit key characteristics. All decisions resulted in positive, mostly unrestricted funding. Stakeholder participation was diverse focusing on information provision or voting. Often, decisions were not fully transparent. Assessment of NBS technologies concentrated on expert opinion, literature review and rough cost estimates. Most important appraisal criteria were effectiveness (i.e., health gain from testing for the children being screened, disease severity and availability of treatments. Some common and diverging key characteristics were identified. Although no evidence of explicit healthcare rationing was found, processes may be improved in respect of transparency and scientific rigour of assessment.

  16. Stability of ampicillin, piperacillin, cefotaxime, netilmicin and amikacin in an L-amino acid solution prepared for total parenteral nutrition of newborn infants

    DEFF Research Database (Denmark)

    Goldstein, K; Colding, H; Andersen, G E

    1988-01-01

    The stability of ampicillin, piperacillin and cefotaxime, alone or in combination with either netilmicin or amikacin, was tested by microbiological methods at 29 degrees C (ampicillin, also at 22 degrees C) in an L-amino acid solution specially prepared for newborn infants. In the case of ampicil...

  17. Antenatal smoking and substance-misuse, infant and newborn response to hypoxia.

    Science.gov (United States)

    Ali, Kamal; Rosser, Thomas; Bhat, Ravindra; Wolff, Kim; Hannam, Simon; Rafferty, Gerrard F; Greenough, Anne

    2017-05-01

    To determine at the peak age for sudden infant death syndrome (SIDS) the ventilatory response to hypoxia of infants whose mothers substance misused in pregnancy (SM infants), or smoked during pregnancy (S mothers) and controls whose mothers neither substance misused or smoked. In addition, we compared the ventilatory response to hypoxia during the neonatal period and peak age of SIDS. Infants of S or SM mothers compared to control infants would have a poorer ventilatory response to hypoxia at the peak age of SIDS. Prospective, observational study. Twelve S; 12 SM and 11 control infants were assessed at 6-12 weeks of age and in the neonatal period. Changes in minute volume, oxygen saturation, heart rate, and end tidal carbon dioxide levels on switching from breathing room air to 15% oxygen were assessed. Maternal and infant urine samples were tested for cotinine, cannabinoids, opiates, amphetamines, methadone, cocaine, and benzodiazepines. The S and SM infants had a greater decline in minute volume (P = 0.037, P = 0.016, respectively) and oxygen saturation (P = 0.031) compared to controls. In all groups, the magnitude of decline in minute volume in response to hypoxia was higher in the neonatal period compared to at 6-12 weeks (P ventilatory decline was more marked in the neonatal period compared to the peak age for SIDS indicating a maturational effect. Pediatr Pulmonol. 2017;52:650-655. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  18. [Extracorporeal gas exchange--an alternative to ventilation of the premature newborn infant with respiratory insufficiency].

    Science.gov (United States)

    Schmidt, S; Dudenhausen, J W; Langner, K; Laiblin, C; Saling, E

    1984-01-01

    In spite of improvements in its prophylaxis and therapy the membrane syndrome is still one of the main causes of morbidity and mortality in newborns. In many perinatal centers in the United States extracorporeal gas exchange via an artificial lung is the ultimate step in therapy for this group of patients today. As a result of our own research work we are able to introduce an extracorporeal circulation system which is especially suited to the particular situation of the immature newborn and which enables a complete immobilization of the lung to avoid baro-trauma with alveolar oxygen diffusion and CO2-removal through the membrane lung. Using appropriate dimensions the system can be housed in a newborn incubator. With low total resistance the perfusion in the newborn is performed via an arterio-venous shunt of the umbilical vessels alternatively with and without a mechanical pump. We tested this perfusion system on premature lambs with a gestational age of 128 to 130 days. During a test period of from 6 to 8 hours at a low blood flow rate (200 ml/min) we achieved a sufficient CO2-removal via the membrane lung with enough oxygen supply through the non-ventilated lung. By means of suitable materials, and using CO2 gas priming procedure and employing prostacyclin analogons to inhibit thrombocyte aggregation, it was possible to lower the heparine dosage to a minimum.

  19. Prenatal Education of Parents About Newborn Screening and Residual Dried Blood Spots: A Randomized Clinical Trial.

    Science.gov (United States)

    Botkin, Jeffrey R; Rothwell, Erin; Anderson, Rebecca A; Rose, Nancy C; Dolan, Siobhan M; Kuppermann, Miriam; Stark, Louisa A; Goldenberg, Aaron; Wong, Bob

    2016-06-01

    Research clearly indicates that current approaches to newborn blood spot screening (NBS) education are ineffective. Incorporating NBS education into prenatal care is broadly supported by lay and professional opinion. To determine the efficacy and effect of prenatal education about newborn screening and use of residual dried blood spots (DBS) in research on parental knowledge, attitudes, and behaviors. A randomized clinical trial of prenatal educational interventions, with outcomes measured by survey at 2 to 4 weeks postpartum. Participants were recruited from obstetric clinics in Salt Lake City, Utah; San Francisco, California; and the Bronx, New York. Eligible women were English- or Spanish-speaking adults and did not have a high-risk pregnancy. A total of 901 women were enrolled. Participants who completed the follow-up survey included 212 women in the usual care group (70% retention), 231 in the NBS group (77% retention), and 221 women in the NBS + DBS group (75% retention). Those who completed the survey were similar across the 3 groups with respect to age, ethnicity, race, education, marital status, income, obstetric history, and language. Participants were randomized into 1 of 3 groups: usual care (n = 305), those viewing an NBS movie and brochure (n = 300), and those viewing both the NBS and DBS movies and brochures (n = 296). Two to four weeks postpartum, women completed a 91-item survey by telephone, addressing knowledge, attitudes, and behavior with respect to opting out of NBS or DBS for their child. A total of 901 women (mean age, 31 years) were randomized and 664 completed the follow-up survey. The total correct responses on the knowledge instrument in regard to NBS were 69% in the usual care group, 79% in the NBS group, and 75% in the NBS + DBS group, a significant between-group difference (P Educational interventions can be implemented in the prenatal clinic, using multimedia tools and electronic platforms. Prenatal education is

  20. Measurement of fecal elastase improves performance of newborn screening for cystic fibrosis.

    Science.gov (United States)

    Barben, Juerg; Rueegg, Corina S; Jurca, Maja; Spalinger, Johannes; Kuehni, Claudia E

    2016-05-01

    The aim of newborn screening (NBS) for CF is to detect children with 'classic' CF where early treatment is possible and improves prognosis. Children with inconclusive CF diagnosis (CFSPID) should not be detected, as there is no evidence for improvement through early treatment. No algorithm in current NBS guidelines explains what to do when sweat test (ST) fails. This study compares the performance of three different algorithms for further diagnostic evaluations when first ST is unsuccessful, regarding the numbers of children detected with CF and CFSPID, and the time until a definite diagnosis. In Switzerland, CF-NBS was introduced in January 2011 using an IRT-DNA-IRT algorithm followed by a ST. In children, in whom ST was not possible (no or insufficient sweat), 3 different protocols were applied between 2011 and 2014: in 2011, ST was repeated until it was successful (protocol A), in 2012 we proceeded directly to diagnostic DNA testing (protocol B), and 2013-2014, fecal elastase (FE) was measured in the stool, in order to determine a pancreas insufficiency needing immediate treatment (protocol C). The ratio CF:CFSPID was 7:1 (27/4) with protocol A, 2:1 (22/10) with protocol B, and 14:1 (54/4) with protocol C. The mean time to definite diagnosis was significantly shorter with protocol C (33days) compared to protocol A or B (42 and 40days; p=0.014 compared to A, and p=0.036 compared to B). The algorithm for the diagnostic part of the newborn screening used in the CF centers is important and affects the performance of a CF-NBS program with regard to the ratio CF:CFSPID and the time until definite diagnosis. Our results suggest to include FE after initial sweat test failure in the CF-NBS guidelines to keep the proportion of CFSPID low and the time until definite diagnosis short. Copyright © 2016 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  1. Positive ventriculography and computer assisted tomography of the skull in the evaluation of megalocephaly in newborns and infants

    International Nuclear Information System (INIS)

    Kellermann, K.; Heuser, L.; Bliesener, J.A.

    1979-01-01

    To clarify indications and limits of computer assisted tomography and positive ventriculography the results of both methods were compared with each other retrospectively in 55 macrocephalic newborns and infants. It could be shown that positive ventriculography, even if combined with coronal views, was superseded by computer assisted tomography to only a certain extent. To complete the appropriate diagnosis preoperatively positive ventriculography was necessary most often in patients with paranatal disturbances who had undergone intensive care treatment. The non-invasive method of computer assisted tomography often yielded sufficient information on localisation, size, and nature of the underlying pathologic process. Both methods turned out to be complementary when topographical and functional interrelations of cranial cysts were to be analysed, or when anatomical details had to be demonstrated, especially structures of the midline and of the posterior fossa, which could not be visualized by computer assisted tomography alone. (orig.) [de

  2. Problems of the decrease in periventricular density due to hypoxia in computer tomograms of new-born infants

    Energy Technology Data Exchange (ETDEWEB)

    Kotlarek, F.; Bruell, D.; Sturm, K.W.; Zeumer, H.

    200 premature and mature neonates with clinical evidence of hypoxia or traumatic encephalopathy were examined by cranial computerized tomography (CT) during the first two weeks postnatally. The findings were compared with those in a control-group consisting of 14 neonates with extraneural malformations. Cerebral hemorrhages were easily identified by their high density, in CT images. Bilateral areas of lowered density within the periventricular white matter, however, could not always be attributed to irreversible tissue damage prior to about 14 days after the hypoxic event in term newborns, and in preterm infants even later. During this early period of life an apparent decrease of periventricular density was regularily observed that must not be mistaken for a pathological change. In two cases persistent periventricular areas of decreased density were caused by neuropathologically verified foci of incomplete leucomalacia.

  3. The problems of the decrease in periventricular density due to hypoxia in computer tomograms of new-born infants

    International Nuclear Information System (INIS)

    Kotlarek, F.; Bruell, D.; Sturm, K.W.; Zeumer, H.

    1982-01-01

    200 premature and mature neonates with clinical evidence of hypoxia or traumatic encephalopathy were examined by cranial computerized tomography (CT) during the first two weeks postnatally. The findings were compared with those in a ''control-group'' consisting of 14 neonates with extraneural malformations. Cerebral hemorrhages were easily identified by their high density, in CT images. Bilateral areas of lowered density within the periventricular white matter, however, could not always be attributed to irreversible tissue damage prior to about 14 days after the hypoxic event in term newborns, and in preterm infants even later. During this early period of life an apparent decrease of periventricular density was regularily observed that must not be mistaken for a pathological change. In two cases persistent periventricular areas of decreased density were caused by neuropathologically verified foci of incomplete leucomalacia. (orig.) [de

  4. Slight Hydronephrosis in Newborns and Breast-fed Infants: Can the Presence of Vesicoureteral Reflux Be Predicted?

    International Nuclear Information System (INIS)

    Berrocal, T.; Pablo, T. de; Gutierrez, J.; Prieto, C.; Hoyo, M. L. del

    2003-01-01

    The purpose of this study was to determine the value of slight-to moderate echo graphically detected hydronephrosis in newborns and breast-fed infants that might serve as indicator for Vesicoureteral reflux (VUR), and to evaluate the necessity of performing micturating cystourethrougraphy (MCUG) in these patients. There were reviewed MCUG of 237 patients (174 boys and 63 girls between the ages of 0 and 18 months) with slight echo graphically detected hydronephrosis in order to evaluate the presence of primary VUR. Patients with secondary reflux or those that presented anomalies which made impossible an exact reflux gradind were excluded. However, normal kidneys with reflux which were contralateral to hydronephrotic kidneys were included in the study. For a statistical analysis of the data, each kidney was considered separately, thereby forming a total of 474 kidneys. Slight hydronephrosis was diagnosed when the renal pelvis anteroposterior diameter was observed to measure between 0.5 and 1.5 cm. The International Grading System was used to grade reflux during MCUG. Of the 474 kidneys evaluated, 306 showed slight hydromephrosis in the echography. Only 98 of these presented reflux (32%) (14 grade 1.50 grade II, 32 grade III and 2 grade IV). The echography was normal (i. e. hydronephrosis not present) in 52 kidneys with reflux (31%) which were contralateral to hydronephrotic kidneys, although 38 of these had reflux of grade II or higher. The echography showed slight hydronephrosis in 208 kidneys that did not have reflux during MCUG (68%). There were no significant differences in the incidence of VUR among normal or hydronephrotic kidneys. There is a poor correlation between slight hydronephrosis and presence or grade of reflux in newborns and breast-fed infants. The latter should not, therefore, be considered an indication for MCUC. (Author) 33 refs

  5. A new holder and surface MRI coil for the examination of the newborn infant hip

    Energy Technology Data Exchange (ETDEWEB)

    Krasny, R. (Dept. of Diagnostic Radiology, Univ. of Technology, Aachen (Germany)); Casser, H.R. (Dept. of Orthopedics, Univ. of Technology, Aachen (Germany)); Requardt, H. (Siemens AG, Erlangen (Germany)); Botschek, A. (Dept. of Diagnostic Radiology, Univ. of Technology, Aachen (Germany))

    1993-11-01

    A special holder was developed for examination of the infant hip joint using MRI. This holder allows the infant hip joint to be examined both in a neutral position and in various defined functional positions. A special integrated surface coil, also developed for this purpose, provides the high spatial resolution required for assessment of the fine joint structures. Thirty infants were examined and the new device has proved useful in advanced hip dysplasia, therapy-resistant subluxation and luxation, and for operative therapy planning (reconstruction of the acetabular roof, redirectional osteotomies). Interpretation errors due to misprojection can be eliminated to a large extent since the holder allows standardized and reproducible positioning. (orig.)

  6. Surveillance of extreme hyperbilirubinaemia in Denmark. A method to identify the newborn infants

    DEFF Research Database (Denmark)

    Bjerre, J.V.; Petersen, Jes Reinholdt; Ebbesen, F.

    2008-01-01

    birth and the others after having been discharged. The maximum TSB was 485 (450-734) micromol/L (median [range]) and appeared latest amongst those infants admitted from home, but was not different from the maximum TSB of the nondischarged infants. Forty-three infants had symptoms of early-phase acute....... The observed incidence of extreme hyperbilirubinaemia is higher than previously reported in Denmark. This is mainly due to a very sensitive method of identifying the study group Udgivelsesdato: 2008/8...

  7. The newborn period problems of the infants born to diabetic mothers

    Directory of Open Access Journals (Sweden)

    Deniz Anuk ince

    2014-09-01

    Results: A total of 31 infants were included. The incidence of insulin dependent diabetes mellitus was %22,6 and the incidence of gestational diabetes was %77,4. Mothers' mean age was 32,6+/-7,9 years and HbA1c level was 5,4+/-1 (4,2-10,2. The mean gestational age of infants was 37,5+/-1,5 weeks and the mean birth weight of infants was 3322,5+/- 695,8 g. Macrosomia was present in 32.2% of infants. Hypoglycemia was present in 9,7% of infants, hypocalcemia was seen 3.2%, polycytemia was seen 6.5%, anemia was seen 6.5%, thrombocytopenia was seen 9.2%, hyperbilirubinemia was seen 41.9%, respiratory distress syndrome was seen 12.9%, congenital anomaly was seen 3.7% of all infants. There was no correlation between HbA1c levels of mothers and hypoglycemia, hypocalcemia, anemia and respiratory distress syndrome. Conclusion: Many complications may be prevented with appropriate management, obstetric care and neonatal management. It is possible to reduce morbidities with the identification of gestational diabetes and metabolic control of hyperglycemia, the determination of risk factors, the close contact between the diabetic mother and her infant in the first hours of delivery and the close follow-up of infants of diabetic mothers with rooming-in who do not need neonatal intensive care unit care. [J Contemp Med 2014; 4(3.000: 115-120

  8. First-day newborn weight loss predicts in-hospital weight nadir for breastfeeding infants.

    Science.gov (United States)

    Flaherman, Valerie J; Bokser, Seth; Newman, Thomas B

    2010-08-01

    Exclusive breastfeeding reduces infant infectious disease. Losing > or =10% birth weight may lead to formula use. The predictive value of first-day weight loss for subsequent weight loss has not been studied. The objective of the present study was to evaluate the relationship between weight loss at or =10%. For 1,049 infants, we extracted gestational age, gender, delivery method, feeding type, and weights from medical records. Weight nadir was defined as the lowest weight recorded during birth hospitalization. We used multivariate logistic regression to assess the effect of first-day weight loss on subsequent in-hospital weight loss. Mean in-hospital weight nadir was 6.0 +/- 2.6%, and mean age at in-hospital weight nadir was 38.7 +/- 18.5 hours. While in the hospital 6.4% of infants lost > or =10% of birth weight. Infants losing > or =4.5% birth weight at or =10% (adjusted odds ratio 3.57 [1.75, 7.28]). In this cohort, 798 (76.1%) infants did not have documented weight gain while in the hospital. Early weight loss predicts higher risk of > or =10% in-hospital weight loss. Infants with high first-day weight loss could be targeted for further research into improved interventions to promote breastfeeding.

  9. Education and parental involvement in decision-making about newborn screening: understanding goals to clarify content.

    Science.gov (United States)

    Potter, Beth K; Etchegary, Holly; Nicholls, Stuart G; Wilson, Brenda J; Craigie, Samantha M; Araia, Makda H

    2015-06-01

    A challenge in designing effective education for parents about newborn screening (NBS) has been uncertainty about appropriate content. Arguing that the goals of education may be usefully tied to parental decision-making, we sought to: (1) explore how different ways of implementing NBS differ in their approaches to parental engagement in decision-making; (2) map the potential goals of education onto these "implementation models"; and (3) consider the content that may be needed to support these goals. The resulting conceptual framework supports the availability of comprehensive information about NBS for parents, irrespective of the model of implementation. This is largely because we argue that meeting parental expectations and preferences for communication is an important goal regardless of whether or notparents are actively involved in making a decision. Our analysis supports a flexible approach, in which some educational messages are emphasized as important for all parents to understand while others are made available depending on parents' preferences. We have begun to define the content of NBS education for parents needed to support specific goals. Further research and discussion is important to determine the most appropriate strategies for delivering the tailored approach to education that emerged from our analysis.

  10. Psychosocial effects in parents and children 12 years after newborn genetic screening for type 1 diabetes

    Science.gov (United States)

    Kerruish, Nicola J; Healey, Dione M; Gray, Andrew R

    2017-01-01

    Little is known about the psychosocial consequences of testing newborns for genetic susceptibility to multifactorial diseases. This study reports quantitative psychosocial evaluations of parents and children 12 years after screening for type 1 diabetes (T1D). Two parent-child cohorts participated: children at increased genetic risk of T1D and children at low genetic risk. T1D risk status was determined at birth as part of a prospective study investigating potential environmental triggers of autoimmunity. Parent measures included ratings of children's emotional, behavioural and social functioning (Child Behaviour Checklist) and parenting style (Alabama Parenting Questionnaire). Child self-concept was assessed using the self-description questionnaire (SDQ1). Statistical analyses were conducted to test for differences between the groups. Twelve years after testing there was no evidence that knowledge of a child's increased genetic risk of T1D adversely affected parental ratings of their child's emotional, behavioural or social functioning, or impacted upon parenting style. There was no adverse effect upon the child's assessment of their self-concept. This study provides important preliminary data concerning longer-term psychosocial effects of incorporating tests for genetic risk of complex disorders into NBS panels. While it is reassuring that no significant adverse effects have been detected, more data will be required to adequately inform policy. PMID:28120838

  11. Plasma Brain-Derived Neurotrophic Factor Levels in Newborn Infants with Neonatal Abstinence Syndrome.

    Science.gov (United States)

    Subedi, Lochan; Huang, Hong; Pant, Amrita; Westgate, Philip M; Bada, Henrietta S; Bauer, John A; Giannone, Peter J; Sithisarn, Thitinart

    2017-01-01

    Brain-derived neurotrophic factor (BDNF) is a type of growth factor that promotes growth and survival of neurons. Fetal exposure to opiates can lead to postnatal withdrawal syndrome, which is referred as neonatal abstinence syndrome (NAS). Preclinical and clinical studies have shown an association between opiates exposure and alteration in BDNF expression in the brain and serum levels in adult. However, to date, there are no data available on the effects of opiate exposure on BDNF levels in infant who are exposed to opiates in utero and whether BDNF level may correlate with the severity of NAS. To compare plasma BDNF levels among NAS and non-NAS infants and to determine the correlation of BDNF levels and the severity of NAS. This is a prospective cohort study with no intervention involved. Infants ≥35 weeks of gestation were enrolled. BDNF level was measured using enzyme-linked immunosorbent assay technique from blood samples drawn within 48 h of life. The severity of NAS was determined by the length of hospital stay, number of medications required to treat NAS. 67 infants were enrolled, 34 NAS and 33 non-NAS. Mean gestational age did not differ between the two groups. Mean birth weight of NAS infants was significantly lower than the non-NAS infants (3,070 ± 523 vs. 3,340 ± 459 g, p  = 0.028). Mean BDNF level in NAS group was 252.2 ± 91.6 ng/ml, significantly higher than 211.3 ± 66.3 ng/ml in the non-NAS group ( p  = 0.04). There were no differences in BDNF levels between NAS infants that required one medication vs. more than one medication (254 ± 91 vs. 218 ± 106 ng/ml, p  = 0.47). There was no correlation between the BDNF levels and length of hospital stay ( p  = 0.68) among NAS infants. Overall, there were no significant correlations between BDNF levels and NAS scores except at around 15 h after admission (correlation 0.35, p  = 0.045). Plasma BDNF level was significantly increased in NAS infants

  12. Severe pulmonary hemorrhage in the premature newborn infant: analysis of presurfactant and surfactant eras.

    Science.gov (United States)

    Braun, K R; Davidson, K M; Henry, M; Nielsen, H C

    1999-01-01

    We undertook a case-control study of premature infants who developed clinically significant, severe pulmonary hemorrhage (PH) in the presurfactant and surfactant eras to learn more about the cause of severe PH and whether the pathogenesis of severe PH has changed with the advent of surfactant therapy. Severe PH was defined as an acute onset of severe endotracheal bleeding with an acute drop in hematocrit and the development of multilobar infiltrates on chest radiograph. Eleven premature infants from the presurfactant era population and 17 premature infants from the surfactant era population met the criteria for severe PH, all with gestational ages <32 weeks and birth weights <1,500 g (very low birth weight infants). These were each matched by gestational age, date of birth, birth order (for twins), and birth weight to 2 controls. The incidence of severe PH in infants of gestational age <32 weeks was similar in the two eras (1.8% in the presurfactant era and 3.0% in the surfactant era). Severe PH was not associated with maternal characteristics such as drug use or prenatal care, pregnancy complications, evidence of intrauterine anoxia, hyaline membrane disease, frequency of endotracheal suctioning, or patent ductus arteriosus. Premature infants suffering from severe PH in the presurfactant era required more delivery room resuscitation and had more severe early respiratory disease during the first 12 h of life as compared with their controls. However, these differences were not present in the group from the surfactant era. Infants with severe PH were more likely to have birth weights below the third percentile for gestation (severe intrauterine growth restriction). The proportion of infants receiving surfactant, and the number of surfactant doses used, did not differ between severe-PH infants and their controls in the surfactant era group. We conclude that severe intrauterine growth restriction represents a risk factor for severe PH in very low birth weight infants

  13. Hip sonography in the newborn

    International Nuclear Information System (INIS)

    Riboni, G.; Serantoni, S.; De Simoni, M.; Bascape', P.; Facchini, R.; Pirovano, G.

    1991-01-01

    The authors report the data relative to 1507 cases studied with clinical and US examinations, in the neonatal period, in order to exclude hip dysplasia dislocation. US examination was carried out according to Graf's technique and the newborns were classified according to US hip type, to clinical examination and to possible risk factors. The patients were included in a protocol including orthopedic and US controls. Seventeen treated infants were considered as pathologic. Ten of them had IIc or D hips ar birth; the other 7, with IIa hips at birth, presented a X-ray pathologic hip after the 4th months of life. At about one year of age all infants could normally walk, excpet for one who was being treated with herness. No statistically significant differences were observed between the number of pathologic infants in the risk group (1.7%) and that in the no-risk group (0.8%). Clinical examination of the newborn has low sensitivity in detecting pathologic hips. On the basis of their results, thw authors belive US examination of the newborn to be a valuable screening method to diagnose hip dysplasia/dislocation. Moreover, Graf's morphologic method is the best one for US screening of the hip in the neonatal period

  14. Infant hearing screening in a developing-country context: Status in ...

    African Journals Online (AJOL)

    2017-12-14

    Dec 14, 2017 ... and infant hearing screening (NIHS) at primary healthcare level (clinic- .... up clinics; KMC = kangaroo mothercare; DSC = Down syndrome clinic; ... of the current reliance on caregiver concern as the primary identifier of.

  15. A newborn infant chimpanzee snatched and cannibalized immediately after birth: Implications for "maternity leave" in wild chimpanzee.

    Science.gov (United States)

    Nishie, Hitonaru; Nakamura, Michio

    2018-01-01

    This study reports on the first observed case of a wild chimpanzee infant being snatched immediately after delivery and consequently cannibalized by an adult male in the Mahale Mountains, Tanzania. We demonstrate "maternity leave" from long-term data from the Mahale M group and suggest that it functions as a possible counterstrategy of mother chimpanzees against the risk of infanticide soon after delivery. The subjects of this study were the M group chimpanzees at Mahale Mountains, Tanzania. The case of cannibalism was observed on December 2, 2014. We used the long-term daily attendance record of the M group chimpanzees between 1990 and 2010 to calculate the lengths of "maternity leave," a perinatal period during which a mother chimpanzee tends to hide herself and gives birth alone. We observed a very rare case of delivery in a wild chimpanzee group. A female chimpanzee gave birth in front of other members, and an adult male snatched and cannibalized the newborn infant immediately after birth. Using the long-term data, we demonstrate that the length of "maternity leave" is longer than that of nonmaternity leave among adult and adolescent female chimpanzees. We argue that this cannibalism event immediately after birth occurred due to the complete lack of "maternity leave" of the mother chimpanzee of the victim, who might lack enough experience of delivery. We suggest that "maternity leave" taken by expecting mothers may function as a possible counterstrategy against infanticide soon after delivery. © 2017 Wiley Periodicals, Inc.

  16. Healthcare professionals' and parents' experiences of the confirmatory testing period: a qualitative study of the UK expanded newborn screening pilot.

    Science.gov (United States)

    Moody, Louise; Atkinson, Lou; Kehal, Isher; Bonham, James R

    2017-05-08

    With further expansion of the number of conditions for which newborn screening can be undertaken, it is timely to consider the impact of positive screening results and the confirmatory testing period on the families involved. This study was undertaken as part of a larger programme of work to evaluate the Expanded Newborn Screening (ENBS) programme in the United Kingdom (UK). It was aimed to determine the views and experiences of healthcare professionals (HCPs) and parents on communication and interaction during the period of confirmatory testing following a positive screening result. Semi-structured interviews were undertaken with parents of children who had received a positive ENBS result and HCPs who had been involved with the diagnosis and support of parents. Ten parents and 11 healthcare professionals took part in the in-depth interviews. Questions considered the journey from the positive screening result through confirmatory testing to a confirmed diagnosis and the communication and interaction between the parents and HCPs that they had been experienced. Key themes were identified through thematic analysis. The results point to a number of elements within the path through confirmatory testing that are difficult for parents and could be further developed to improve the experience. These include the way in which the results are communicated to parents, rapid turnaround of results, offering a consistent approach, exploring interventions to support family relationships and reviewing the workload and scheduling implications for healthcare professionals. As technology enables newborn screening of a larger number of conditions, there is an increasing need to consider and mediate the potentially negative effects on families. The findings from this study point to a number of elements within the path through confirmatory testing that are difficult for parents and could be further developed to benefit the family experience.

  17. Indicadores en adolescentes con ingresos de recién nacidos en cuidados especiales neonatales Indicators of adolescent mothers having newborn infants admitted to Neonatal Intensive Care Unit

    Directory of Open Access Journals (Sweden)

    Nuvia Suárez Garcia

    2013-02-01

    Full Text Available Introducción: el embarazo en adolescentes constituye un indicador negativo de salud ocasionando serias consecuencias materno- infantiles. Objetivo: evaluar indicadores materno-perinatales y neonatales en adolescentes atendidos en el Hospital "Abel Santamaría Cuadrado" durante el 2010. Métodos: se realizó una investigación aplicada, observacional, analítica, retrospectiva tipo caso-control, cuyo universo englobó 5363 nacimientos vivos en el período, asignándose como casos(n=59: aquellos neonatos que ingresaron en cuidados especiales neonatales (CEN hijos de madres adolescentes (Introduction: pregnancy in adolescence constitutes a negative health indicator that provokes serious maternal-child consequences. Objective: to evaluate maternal-perinatal and neonatal indicators in adolescent mothers admitted at "Abel Santamaria Cuadrado" University General Hospital during 2010. Material and method: an applied, observational, analytical, retrospective, case-control type study which target group comprised 5363 live-born babies during the period, assigning as cases (n=59: newborn infants who were admitted to Neonatal Intensive Care Unit (NICU, newborn infants of adolescent mothers ( Results: the majority of the adolescents whose newborn infants were admitted to NICU were primigravida (69.49% (OR=5.63; CI 95%: 2.7-11.8; 45, 6% suffered from some affection (OR=2.27; CI 95%: 1.12-4.59, prevailing Premature Rupture of Membranes (18.64% and pregnancy-induced hypertension (11.86%, 49,15% of newborn infants were premature (OR=3.11; CI 95 %: 1.53-6.38, 52.54% were low-birth-weight infants (OR=3.4; CI 95%: 1.67-3.95 and 59,32% got the Apgar score of Conclusions: adolescence had a negative influence on perinatal and neonatal indicators increasing the risks of diseases associated with pregnancy: prematurity, low-weight and depression at birth.

  18. Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.

    Science.gov (United States)

    Navarrete-Martínez, Juana Inés; Limón-Rojas, Ana Elena; Gaytán-García, Maria de Jesús; Reyna-Figueroa, Jesús; Wakida-Kusunoki, Guillermo; Delgado-Calvillo, Ma Del Rocío; Cantú-Reyna, Consuelo; Cruz-Camino, Héctor; Cervantes-Barragán, David Eduardo

    2017-05-01

    To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease. Screen-positive cases were confirmed using leukocyte enzymatic activity and DNA molecular analysis. From July 2012 to April 2016, 20,018 patients were screened; 20 patients were confirmed to have an LSD phenotype (99.9 in 100,000 newborns). Final distributions include 11 Pompe disease, five Fabry disease, two MPS-I, and two Niemann-Pick type A/B patients. We did not find any Gaucher or Krabbe patients. A final frequency of 1 in 1001 LSD newborn phenotypes was established. NBS is a major public health achievement that has decreased the morbidity and mortality of inborn errors of metabolism. The introduction of NBS for LSD presents new challenges. This is the first multiplex Latin-American study of six LSDs detected through NBS. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Analysis on screening results of 2 203 premature infants with retinopathy

    Directory of Open Access Journals (Sweden)

    Qian Wang

    2018-06-01

    Full Text Available AIM: To investigate the incidence and risk factors of retinopathy of prematurity(ROPin preterm infants. METHODS: The wide-field digital pediatric Retinal imaging system was used to screen 2 203 preterm infants with gestational age RESULTS: Totally 367 infants(621 eyeswere diagnosed as retinopathy among 2 203 premature infants and the incidence of ROP was 16.66%; 236 cases(399 eyesof ROP(26.61%were detected in 887 cases of premature infants in accord with screening standard of the Chinese Premature Retinopathy Screening Guidelines(2014, and 131 cases(222 eyesof ROP(9.95%was detected in 1 316 cases of premature infants outside the screening standard. In our research, the incidence of ROP was related with gestational age, birth weight, oxygen duration and mechanical ventilation. However, the relationship had not been found with artificial insemination, caesarean birth, gender, polyembryony, acute respiratory distress syndrome(ARDS, hypertensive disorders in pregnancy, gestational diabetes mellitus, intrauterine infection, intrauterine distress, premature rupture of membrane. The incidence of ROP was statistically significant between different gestational age groups, different birth weight groups and different oxygen groups(PCONCLUSION: The incidence of ROP is 16.66% in this study, and there is still a certain proportion outside the screening standard of the Chinese Premature Retinopathy Screening Guidelines(2014. Gestational age, birth weight, oxygen duration and mechanical ventilation are high risk factors for ROP.

  20. Delay in blood sampling for routine newborn screening is associated with increased risk of schizophrenia.

    Science.gov (United States)

    Nordentoft, Merete; Larsen, Janne Tidselbak; Pedersen, Carsten Bøcker; Sørensen, Holger Jelling; Hollegaard, Mads Villiam; Hougaard, David Michael; Mortensen, Preben Bo; Petersen, Liselotte

    2015-03-01

    The Danish Neonatal Screening Biobank, containing dried blood spot samples from all newborn in Denmark, is a unique source of data that can be utilized for analyses of genetic and environmental exposures related to schizophrenia and other mental disorders. In previous analyses, we have found that early and late blood sampling, compared to sampling at day 5, was associated with increased risk of schizophrenia. As delay in sampling of blood for neonatal screening cannot in itself influence the risk of schizophrenia, it must be seen as a proxy for unknown underlying causes responsible for this association. Therefore, we investigated whether the increased risk can be explained by other risk factors for schizophrenia. A case-control design was applied. A total of 846 cases with schizophrenia were selected from the Danish Psychiatric Case Register. One control was selected for each case, matched on sex and exact date of birth. Both early and late blood sampling was associated with increased risk for schizophrenia. Compared to blood sampling at day 5, sampling at days 0 to 4 after birth was associated with an incidence rate ratio (IRR) of 1.46 (95% CI 1.15-1.87) for development of schizophrenia, and sampling at days 6 to 9 and at days 10 to 53 was associated with an IRR of 1.5 (95% CI 1.13-1.98) and 3.00 (95% CI 1.59-5.67), respectively. After adjusting the estimates for place of birth, both parents' psychiatric illness, maternal and paternal age, parents' country of origin, child admission, and parental education and income, the estimates were slightly different. Thus, blood collection at 0-4days was associated with an IRR of 1.27 (95% CI 0.94-1.71), 6-9days 1.31 (95% CI 0.94-1.84) and 10+days 3.52 (95% CI 1.50 to 8.24). After adjusting risk estimates for well-known risk factors, delay in sampling of blood for neonatal screening was associated with unexplained increased risk of schizophrenia. Thus, a key finding is that age at test is a proxy for unobserved risk factors

  1. Oral dextrose gel for the treatment of hypoglycaemia in newborn infants.

    Science.gov (United States)

    Weston, Philip J; Harris, Deborah L; Battin, Malcolm; Brown, Julie; Hegarty, Joanne E; Harding, Jane E

    2016-05-04

    Neonatal hypoglycaemia, a common condition, can be associated with brain injury. It is frequently managed by providing infants with an alternative source of glucose, given enterally with formula or intravenously with dextrose solution. This often requires that mother and baby are cared for in separate environments and may inhibit breast feeding. Dextrose gel is simple and inexpensive and can be administered directly to the buccal mucosa for rapid correction of hypoglycaemia, in association with continued breast feeding and maternal care. To assess the effectiveness of dextrose gel in correcting hypoglycaemia and in reducing long-term neurodevelopmental impairment. We searched MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials (CENTRAL), the Cumulative Index to Nursing and Allied Health Literature (CINAHL) and Web of Science from inception of the database to February 2016. We also searched international clinical trials networks and handsearched proceedings of specific scientific meetings. Randomised and quasi-randomised studies comparing dextrose gel versus placebo, no treatment or other therapies for treatment of neonatal hypoglycaemia. Two review authors independently assessed trial quality and extracted data and did not assess publications for which they themselves were study authors. We included two trials involving 312 infants. No data were available for correction of hypoglycaemia for each hypoglycaemic event. We found no evidence of a difference between dextrose gel and placebo gel for major neurosensory disability at two-year follow-up (risk ratio (RR) 6.27, 95% confidence interval (CI) 0.77 to 51.03; one trial, n = 184; quality of evidence very low). Dextrose gel compared with placebo gel or no gel did not alter the need for intravenous treatment for hypoglycaemia (typical RR 0.78, 95% CI 0.46 to 1.32; two trials, 312 infants; quality of evidence very low). Infants treated with dextrose gel were less likely to be separated from their

  2. Glutamine supplementation of parenteral nutrition does not improve intestinal permeability, nitrogen balance, or outcome in newborns and infants undergoing digestive-tract surgery: results from a double-blind, randomized, controlled trial

    NARCIS (Netherlands)

    E.W. Steyerberg (Ewout); F.W.J. Hazebroek (Frans); M. Mourik; G.J.J.M. Borsboom (Gerard); T. Rietveld (Trinet); J.G.M. Huijmans (Jan); D. Tibboel (Dick); M.J.I.J. Albers (Marcel)

    2005-01-01

    textabstractOBJECTIVE: To assess the effect of isocaloric isonitrogenous parenteral glutamine supplementation on intestinal permeability and nitrogen loss in newborns and infants after major digestive-tract surgery. SUMMARY BACKGROUND DATA: Glutamine supplementation in critically

  3. Plasma Brain-Derived Neurotrophic Factor Levels in Newborn Infants with Neonatal Abstinence Syndrome

    Directory of Open Access Journals (Sweden)

    Lochan Subedi

    2017-11-01

    Full Text Available BackgroundBrain-derived neurotrophic factor (BDNF is a type of growth factor that promotes growth and survival of neurons. Fetal exposure to opiates can lead to postnatal withdrawal syndrome, which is referred as neonatal abstinence syndrome (NAS. Preclinical and clinical studies have shown an association between opiates exposure and alteration in BDNF expression in the brain and serum levels in adult. However, to date, there are no data available on the effects of opiate exposure on BDNF levels in infant who are exposed to opiates in utero and whether BDNF level may correlate with the severity of NAS.ObjectiveTo compare plasma BDNF levels among NAS and non-NAS infants and to determine the correlation of BDNF levels and the severity of NAS.MethodsThis is a prospective cohort study with no intervention involved. Infants ≥35 weeks of gestation were enrolled. BDNF level was measured using enzyme-linked immunosorbent assay technique from blood samples drawn within 48 h of life. The severity of NAS was determined by the length of hospital stay, number of medications required to treat NAS.Results67 infants were enrolled, 34 NAS and 33 non-NAS. Mean gestational age did not differ between the two groups. Mean birth weight of NAS infants was significantly lower than the non-NAS infants (3,070 ± 523 vs. 3,340 ± 459 g, p = 0.028. Mean BDNF level in NAS group was 252.2 ± 91.6 ng/ml, significantly higher than 211.3 ± 66.3 ng/ml in the non-NAS group (p = 0.04. There were no differences in BDNF levels between NAS infants that required one medication vs. more than one medication (254 ± 91 vs. 218 ± 106 ng/ml, p = 0.47. There was no correlation between the BDNF levels and length of hospital stay (p = 0.68 among NAS infants. Overall, there were no significant correlations between BDNF levels and NAS scores except at around 15 h after admission (correlation 0.35, p = 0.045.ConclusionPlasma BDNF

  4. [Evaluation of central parenteral alimentation in critically ill newborn infants at a provincial pediatric hospital].

    Science.gov (United States)

    Yunes-Zárraga, J L; de la Garza-Garza, G; Velázquez-Quintana, N

    1989-04-01

    A revision was made on files of newborns whom received total parenteral nutrition (TPN) in the neonatal intensive care unit of the Hospital Infantil de Tamaulipas during a two and a half years period. We try to correlate dosage and caloric intake with weight gain, survival and complications. We reviewed the principal indications that motivated the use of total parenteral nutrition. The average period of administration was 15 days and caloric intake average 75 cal. There was significance in weight gain in newborns older than 35 weeks (14.6 g/kg/day) compared with younger than 34 weeks (9.2 g/kg/day) (p less than 0.001). There was no relation between days and dosage in both groups. Only one case showed cholestatic jaundice. Hyperglycemia was present statistically more frequent in the group lesser gestational age. There were no important electrolytic disturbances. Necrotizing enterocolitis was present more frequent in the older group. Some comments are made in relation to sepsis and a discussion of possible causes that do no permit a better assimilation of nutrients in these babies.

  5. [Effects of maternal hyperthyroidism and antithyroid drug therapy on thyroid function of newborn infants].

    Science.gov (United States)

    Lian, Xiao-lan; Bai, Yao; Xun, Yun-hua; Dai, Wei-xin; Guo, Zhi-sheng

    2005-12-01

    To evaluate the relationship between the incidence of abnormal thyroid function of newborns and maternal hyperthyroidism with antithyroid drug therapy. The clinical data of 35 neonates born to mothers with hyperthyroidism from 1983 to 2003 in Peking Union Medical College Hospital were retrospectively analyzed. According to the maternal thyroid function and the antithyroid drugs taken during pregnancy, subjects were divided into different groups. The proportion of abnormal thyroid function in newborn was 48.6% (17/35). The prevalences of primary hypothyroidism, subclinical hypothyroidism, hypothyroxinemia, and central hypothyroidism were 29.4%, 29.4%, 35.3%, and 5.9%, respectively. The incidence of abnormal thyroid function of neonates whose mothers did not take the antithyroid drugs (ATDs) until the third trimester of pregnancy was significantly higher than those without and with ATDs during the first or second trimester (P hyperthyroid mothers did not take ATDs until the third trimester of pregnancy may be increased. Prompt diagnosis and appropriate treatment of hyperthyroidism in pregnant women are essential for the prevention of neonatal thyroid functional abnormality.

  6. Clinical practices in the hospital care of healthy newborn infant in Brazil.

    Science.gov (United States)

    Moreira, Maria Elisabeth Lopes; Gama, Silvana Granado Nogueira da; Pereira, Ana Paula Esteves; Silva, Antonio Augusto Moura da; Lansky, Sônia; Souza Pinheiro, Rossiclei de; Carvalho Gonçalves, Annelise de; Carmo Leal, Maria do

    2014-08-01

    The aim of this study was to evaluate the care of healthy full-term newborns and to identify variations in childbirth care and practices in the first hour of life. We used data from the Birth in Brazil survey. Unadjusted and adjusted odds ratio (OR) of hospital-delivered care for the mother and during childbirth were estimated for the following outcomes: upper airways and gastric aspiration, use of inhaled oxygen, use of incubator, skin-to-skin contact after birth, rooming-in and breastfeeding in the delivery room and within the first hour of life. We observed wide variations in the care of healthy full-term newborn in the delivery room. Practices considered inadequate, such as use of inhaled oxygen, (9.5%) aspiration of airways (71.1%) and gastric suctioning (39.7%), and the use of incubator (8.8%) were excessively used. Breastfeeding in the delivery room was low (16%), even when the Baby-Friendly Hospital Initiative had been implemented (24%). The results suggest poor knowledge and compliance by health practitioners to good clinical practice. Such noncompliance was probably not due to the differences in resources, since most births take place in hospitals where the necessary resources are available.

  7. Learning, Play, and Your Newborn

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Learning, Play, and Your Newborn KidsHealth / For Parents / Learning, ... Some Other Ideas Print What Is My Newborn Learning? Play is the chief way that infants learn ...

  8. Early diagnosis of congenital toxoplasmosis in newborn infants using IgG subclasses against two Toxoplasma gondii recombinant proteins

    Directory of Open Access Journals (Sweden)

    Carlos Henryque de Souza e Silva

    2012-05-01

    Full Text Available The aim of this work was to evaluate the utility of ELISA-based testing of total IgG (IgGt antibodies and its subclasses (IgG1, IgG2, IgG3 and IgG4 against soluble (STAg and recombinant (rSAG1 and rMIC3 antigens of Toxoplasma gondii for diagnosing congenital toxoplasmosis. Sera from 217 newborns initially testing positive for specific IgM in filter paper dried blood spots were tested for specific IgM and IgG by ELFA-VIDAS®. Congenital toxoplasmosis was confirmed in 175 and ruled out in 42 infants. The validity of the ELISA tests was determined using the persistence of IgG antibodies (ELFA-VIDAS® kit at the end of 12 months, which is considered the reference test for the diagnosis of congenital toxoplasmosis. The frequency of positivity with IgGt against STAg, rSAG1 and rMIC3 was found in 97.2%, 96.3% and 80.2%, respectively, of the newborns with confirmed congenital toxoplasmosis. IgG1 reacted with all three antigens, while IgG3 and IgG4 reacted preferentially with rMIC3. Higher mean values of reactivity (sample optical density/cut-off were found for all subclasses when using rMIC3. All of the antigens showed high sensitivity and low specificity in detecting anti-T. gondii IgGt and IgG1 and low sensitivity and high specificity in detecting IgG3 and IgG4. In conclusion, the combined detection of IgG antibody subclasses against recombinant toxoplasmic antigens may be useful for the early diagnosis of congenital toxoplasmosis.

  9. Cup feeding versus other forms of supplemental enteral feeding for newborn infants unable to fully breastfeed.

    Science.gov (United States)

    Flint, Anndrea; New, Karen; Davies, Mark W

    2016-08-31

    Breast milk provides optimal nutrition for term and preterm infants, and the ideal way for infants to receive breast milk is through suckling at the breast. Unfortunately, this may not always be possible for medical or physiological reasons such as being born sick or preterm and as a result requiring supplemental feeding. Currently, there are various ways in which infants can receive supplemental feeds. Traditionally in neonatal and maternity units, bottles and nasogastric tubes have been used; however, cup feeding is becoming increasingly popular as a means of offering supplemental feeds in an attempt to improve breastfeeding rates. There is no consistency to guide the choice of method for supplemental feeding. To determine the effects of cup feeding versus other forms of supplemental enteral feeding on weight gain and achievement of successful breastfeeding in term and preterm infants who are unable to fully breastfeed. We used the standard search strategy of the Cochrane Neonatal Review group to search the Cochrane Central Register of Controlled Trials (CENTRAL 2016, Issue 1), MEDLINE via PubMed (1966 to 31 January 2016), Embase (1980 to 31 January 2016), and CINAHL (1982 to 31 January 2016). We also searched clinical trials' databases, conference proceedings, and the reference lists of retrieved articles for randomised controlled trials and quasi-randomised trials. Randomised or quasi-randomised controlled trials comparing cup feeding to other forms of enteral feeding for the supplementation of term and preterm infants. Data collection and analysis was performed in accordance with the methods of Cochrane Neonatal. We used the GRADE approach to assess the quality of evidence.The review authors independently conducted quality assessments and data extraction for included trials. Outcomes reported from these studies were: weight gain; proportion not breastfeeding at hospital discharge; proportion not feeding at three months of age; proportion not feeding at six

  10. Challenges and Opportunities in Establishing and Maintaining Newborn Screening in a Rural Area of Andhra Pradesh - Task Force Study by Indian Council of Medical Research.

    Science.gov (United States)

    Radha Rama Devi, A; Ananthalakshmi, Y; Srimannarayana Rao, K

    2018-02-19

    The primary objective was to evaluate the feasibility of setting up newborn screening in rural areas in India. Secondary objective was to enhance the knowledge and awareness towards early detection of diseases by newborn screening, management of the affected baby and to impart genetic counseling. Awareness programs were conducted at different mandals in the district for the medical practioners during the preparatory phase of the Task Force Project. Educative lectures and clinical meetings regarding the importance and relevance of newborn screening were held every 3 months initially and half yearly later. Families were counselled during antenatal check-ups. Good co-operation was obtained from medical doctors and their willingness to participate in sample collection from the hospitals. Families accepted screening after an initial period of resistance. The fact that screening of this kind will help their babies made a positive impact. Many families started promoting newborn screening to their friends and relations. Confirmation of diagnosis, treatment, and follow-up were satisfactory with almost negligible number of cases lost to follow-up. With proper planning and commitment on the part of health authorities, it is possible to implement newborn screening in rural areas in India as well.

  11. Resuscitation of the Newborn

    Science.gov (United States)

    Kilduff, C. J.

    1975-01-01

    All infants have some degree of hypoxia and respiratory acidosis at birth, but these conditions are more profound in the asphyxiated newborn. The newborn infant is very susceptible to cooling and may require warming. Skin temperature should be maintained between 36-36.5°.2 Resuscitation of the asphyxiated newborn must include both ventilatory and metabolic correction. Newborn infants may have cardiorespiratory problems due to asphyxia, drugs given to the mother, intrathoracic disease, anemia, hypovolemia (due to antepartum hemorrhage), hypotension, etc. There is no substitute for oxygen which is the drug of choice in respiratory depression of the newborn. The use of stimulating drugs like Coramine, picrotoxin, alphalobectine, and Megamide has no place in the resuscitation of the asphyxiated newborn. Imagesp74-ap74-bp74-cp74-d PMID:20469196

  12. Validation of a Dutch language screening instrument for 5-year-old preterm infants.

    NARCIS (Netherlands)

    Knuijt, S.; Sondaar, M.; Kleine, M.J. de; Kollee, L.A.A.

    2004-01-01

    AIM: The validation of the Dutch Taal Screenings Test (TST), a language-screening test, which is included in a follow-up instrument developed to enable paediatricians to assess 5-y-old preterm infants for their motor, cognitive and speech and language development. METHODS: The speech and language

  13. Serial cytokine alterations and abnormal neuroimaging in newborn infants with encephalopathy.

    Science.gov (United States)

    O'Hare, Fiona M; Watson, R William G; O'Neill, Amanda; Segurado, Ricardo; Sweetman, Deirdre; Downey, Paul; Mooney, Eoghan; Murphy, John; Donoghue, Veronica; Molloy, Eleanor J

    2017-04-01

    Inflammatory cytokines may play a role in the final common pathway in the pathogenesis of hypoxic-ischaemic injury in experimental models. We aimed to profile the systemic pro-and anti-inflammatory response over the first week of life in term infants at risk of neonatal encephalopathy. In a tertiary referral university neonatal intensive care unit, serial blood samples were analysed from 41 term infants (requiring resuscitation at birth) in this prospective observational pilot study. Serum levels of 10 pro-and anti-inflammatory cytokines were evaluated including interleukin(IL)-1α, IL-1β, IL-6, IL-8, IL-10, tumour necrosis factor(TNF)-α, interferon (IFN)-γ, vascular endothelial growth factor (VEGF), granulocyte/colony-stimulating factor (G-CSF) and granulocyte macrophage/colony-stimulating factor (GM-CSF). Infants with neonatal encephalopathy and abnormal neuroimaging (n = 15) had significantly elevated granulocyte macrophage/colony-stimulating factor at 0-24 h and interleukin-8, interleukin-6 and interleukin-10 at 24-48 hour. Tumour necrosis factor-α and vascular endothelial growth factor levels were lower at 72-96 hour (p < 0.05). Significantly elevated levels of interleukin-10 were associated with mortality. Serum cytokine changes and innate immune dysregulation in the first week of life may be indicators of outcome in neonatal encephalopathy but require validation in larger studies. ©2017 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  14. GENERAL ANESTHESIA: IS IT SAFE FOR NEWBORNS, INFANTS AND YOUNG CHILDREN ?

    Directory of Open Access Journals (Sweden)

    Nancheva Jasminka

    2016-07-01

    Full Text Available The exposure of neonates, infants and small children to general anesthesia is becoming a common occurrence. Accumulating preclinical data indicate that exposure to commonly used general anesthetic agents during key periods of brain development in this population(between late gestation and 3 to 4 years of age, can lead to apoptotic neurodegeneration, synapse loss, and cognitive and neurobehavioral deficits that persist as the organism matures. New work suggests that infants and small children undergoing some types of surgery could have better recovery if they receive regional anesthesia rather than general anesthesia. In response to this concerns, the Food and drug administration (FDA and the International Research Society in anesthesia (IARS started an initiative called Smart Tots (Strategies for Mitigating Anesthesia- related neuro Toxicity in Tots which examine the effects of anesthesia on brain development. Also another two major prospective studies are ongoing in children : PANDA (Pediatric Anesthesia Neurodevelopment assessment Study project is a large, multi-center study based at the Morgan Stanley Children’s Hospital of New York at Columbia University, and another one is GAS study which is a multisite randomized controlled trial comparing neurodevelopment outcomes in infant receiving general anesthesia compared to spinal and other regional anesthetics to the stress response to surgery. The findings from these studies will help researches to design the safest anesthetic regimens and to develop the new and safer anesthetic drugs for use in pediatric medicine.

  15. Methodological issues in assessing plasma 25-hydroxyvitamin D concentration in newborn infants.

    Science.gov (United States)

    Gallo, Sina; Comeau, Kathryn; Agellon, Sherry; Vanstone, Catherine; Sharma, Atul; Jones, Glenville; L'abbé, Mary; Khamessan, Ali; Weiler, Hope; Rodd, Celia

    2014-04-01

    Although no gold standard exists, liquid chromatography tandem mass spectrometry (LC-MS/MS) is a precise and accurate method for the analysis of plasma 25-hydroxyvitamin D (25(OH)D). Immunoassays are more readily available and require small volume sampling, ideal for infant testing. The objective was to compare two commercially available immunoassays for measuring circulating 25(OH)D concentration in infant plasma against LC-MS/MS. Capillary blood samples from 103 infants were analyzed for plasma 25(OH)D using an enzyme immunoassay (EIA, Octeia, IDS Ltd.) and radioimmunoassay (RIA, DiaSorin). Plasma 25(OH)D(3), C-3 epimer of 25(OH)D(3) (3-epi-25(OH)D(3)) and 24,25-dihydroxyvitamin D (24,25(OH)(2)D(3)) were measured on the same samples using LC-MS/MS. To establish whether plasma 24,25(OH)(2)D(3) or 3-epi-25(OH)D(3) interferes with these immunoassay results, the zero 25(OH)D calibrator from each assay kit was spiked with increasing amounts of 24,25(OH)(2)D(3) or 3-epi-25(OH)D(3). Classifying infants below the common vitamin D status targets of 50 nmol/L and 75 nmol/L respectively, 58% and 99% fell below using the RIA, 19% and 56% with the EIA and 31% and 76% with LC-MS/MS. Compared to LC-MS/MS, both immunoassays showed poor Bland-Altman limits of agreement for 25(OH)D concentrations (RIA: limits of agreement -27 to +13%; EIA: -12 to +41%), and mountain plots (folded cumulative distribution) depicted significant skew and bias. Spiked 24,25(OH)2D3 concentrations, but not 3-epi-25(OH)D3, appeared as >100% of known values on the EIA but not on the RIA thus, suggesting that the EIA may cross-react with 24,25(OH)(2)D(3) to a greater extent than 3-epi-25(OH)D(3). Two common immunoassays resulted in very different classifications of vitamin D status possibly related to the interference of other vitamin D metabolites. Based on these data, LC-MS/MS assessment of vitamin D status is recommended in young infants (4-6 weeks of age). Copyright © 2014 Elsevier Inc. All rights

  16. Resuscitation of asphyxiated newborn infants with room air or oxygen: an international controlled trial: the Resair 2 study.

    Science.gov (United States)

    Saugstad, O D; Rootwelt, T; Aalen, O

    1998-07-01

    Birth asphyxia represents a serious problem worldwide, resulting in approximately 1 million deaths and an equal number of serious sequelae annually. It is therefore important to develop new and better ways to treat asphyxia. Resuscitation after birth asphyxia traditionally has been carried out with 100% oxygen, and most guidelines and textbooks recommend this; however, the scientific background for this has never been established. On the contrary, theoretic considerations indicate that resuscitation with high oxygen concentrations could have detrimental effects. We have performed a series of animal studies as well as one pilot study indicating that resuscitation can be performed with room air just as efficiently as with 100% oxygen. To test this more thoroughly, we organized a multicenter study and hypothesized that room air is superior to 100% oxygen when asphyxiated newborn infants are resuscitated. In a prospective, international, controlled multicenter study including 11 centers from six countries, asphyxiated newborn infants with birth weight >999 g were allocated to resuscitation with either room air or 100% oxygen. The study was not blinded, and the patients were allocated to one of the two treatment groups according to date of birth. Those born on even dates were resuscitated with room air and those born on odd dates with 100% oxygen. Informed consent was not obtained until after the initial resuscitation, an arrangement in agreement with the new proposal of the US Food and Drug Administration's rules governing investigational drugs and medical devices to permit clinical research on emergency care without the consent of subjects. The protocol was approved by the ethical committees at each participating center. Entry criterion was apnea or gasping with heart rate Apgar score at 5 minutes, heart rate at 90 seconds, time to first breath, time to first cry, duration of resuscitation, arterial blood gases and acid base status at 10 and 30 minutes of age, and

  17. The angle of insonation for Doppler measurements of left and right ventricular output in newborns and infants

    Directory of Open Access Journals (Sweden)

    Karin Sprenkelder

    2014-12-01

    Full Text Available Background: The angle of insonation can be an important determinant of Doppler-derived cardiac output measurements. It is known anatomically that there is a larger insonation angle for the left vs. right ventricular outflow area, but variability and calculated angles have not been described. The aim of this study was to describe the anatomical position of the left and right outflow areas and determine the geometric angle of insonation in newborn and infants. Methods: Magnetic resonance images of infants ≤ 2 years of age were explored. For each outflow, the position was determined relative to an anatomical reference point. To obtain the angle of insonation, the angle between the outflow and the hypothetical position of the ultrasound probe beam was calculated. Results: Forty-five patients were included with a median age of 71 days old. Anatomically, the left outflow is directed almost vertically upwards in sagittal images with a 40º angle to the right in coronal images. The right outflow is directed 53º upwards in sagittal images with a slight angle to the left on axial images. The median (range angle of insonation for the left ventricular outflow area using the apical or subcostal view was 40° (22-51 and 28° (7-47 respectively, and 23° (2-40 for the right ventricular outflow area using the parasternal view. Conclusions: The median geometric angle of insonation of the left outflow was larger than the right. The variation within the group was large, but in each individual case the angle for left was larger than for right.

  18. Development of a screening MRI for infants at risk for abusive head trauma

    Energy Technology Data Exchange (ETDEWEB)

    Flom, Lynda; Panigrahy, Ashok [Children' s Hospital of Pittsburgh of UPMC, Department of Radiology, Pittsburgh, PA (United States); Fromkin, Janet [University of Pittsburgh, Department of Pediatrics, Children' s Hospital of Pittsburgh of UPMC, Pittsburgh, PA (United States); Tyler-Kabara, Elizabeth [University of Pittsburgh, Department of Neurosurgery, Children' s Hospital of Pittsburgh of UPMC, McGowan Institute for Regenerative Medicine, Pittsburgh, PA (United States); Berger, Rachel P. [University of Pittsburgh, Department of Pediatrics, Children' s Hospital of Pittsburgh of UPMC, Pittsburgh, PA (United States); University of Pittsburgh, Safar Center for Resuscitation Research, Pittsburgh, PA (United States)

    2016-04-15

    Abusive head trauma (AHT) is an important cause of morbidity in infants. Identifying which well-appearing infants are at risk for AHT and need neuroimaging is challenging, and concern about radiation exposure limits the use of head CT. Availability of an MRI protocol that is highly sensitive for intracranial hemorrhage would allow for AHT screening of well-appearing infants without exposing them to radiation. To develop a screening MRI protocol to identify intracranial hemorrhage in well-appearing infants at risk for AHT. Infants enrolled in a parent study of well-appearing infants at increased risk for AHT were eligible for the current study if they underwent both head CT and conventional brain MRI. A derivation cohort of nine infants with AHT was used to identify sequences that provided the highest sensitivity for intracranial hemorrhage. A validation cohort of 78 infants including both controls with normal neuroimaging and cases with AHT was used to evaluate the accuracy of the selected sequences. Three pulse sequences - axial T2, axial gradient recalled echo (GRE) and coronal T1-W inversion recovery - were 100% sensitive for intracranial hemorrhage in the derivation cohort. The same sequences were 100% sensitive (25/25) and 83% specific (44/53) for intracranial hemorrhage in the validation cohort. A screening MRI protocol including axial T2, axial GRE and coronal T1-W inversion recovery sequences is highly sensitive for intracranial hemorrhage and may be useful as a screening tool to differentiate well-appearing infants at risk for AHT who should undergo head CT from those who can safely be discharged without head CT. Additional research is needed to evaluate the feasibility of this approach in clinical practice. (orig.)

  19. Infant hearing screening at primary healthcare immunisation clinics ...

    African Journals Online (AJOL)

    detection of infant hearing loss in the SA private healthcare sector. Scheepers et al.[18] examined the .... It appears that economic indicators may have ... behavioural responses to environmental sound stimuli incorporating noisemaker and/or ...

  20. UK-born ethnic minority women and their experiences of feeding their newborn infant.

    Science.gov (United States)

    Twamley, Katherine; Puthussery, Shuby; Harding, Seeromanie; Baron, Maurina; Macfarlane, Alison

    2011-10-01

    to explore the factors that impact on UK-born ethnic minority women's experiences of and decisions around feeding their infant. in-depth semi-structured interviews. 34 UK-born women of Black African, Black Caribbean, Pakistani, Bangladeshi, Indian and Irish parentage and 30 health-care professionals. women and health-care professionals were recruited primarily from hospitals serving large numbers of ethnic minority women in London and Birmingham. despite being aware of the benefits of exclusive breast feeding, many women chose to feed their infant with formula. The main barriers to breast feeding were the perceived difficulties of breast feeding, a family preference for formula feed, and embarrassment about breast feeding in front of others. Reports from women of South Asian parentage, particularly those who lived with an extended family, suggested that their intentions to breast feed were compromised by the context of their family life. The lack of privacy in these households and grandparental pressure appeared to be key issues. Unlike other participants, Irish women reported an intention to feed their infant with formula before giving birth. The key facilitators to breast feeding were the self-confidence and determination of women and the supportive role of health-care professionals. these findings point to common but also culturally specific mechanisms that may hinder both the initiation and maintenance of breast feeding in UK-born ethnic minority women. They signal potential benefits from the inclusion of family members in breast-feeding support programmes. Copyright © 2010 Elsevier Ltd. All rights reserved.

  1. Variation in Formula Supplementation of Breastfed Newborn Infants in New York Hospitals.

    Science.gov (United States)

    Nguyen, Trang; Dennison, Barbara A; Fan, Wei; Xu, Changning; Birkhead, Guthrie S

    2017-07-01

    We examined the variation between 126 New York hospitals in formula supplementation among breastfed infants after adjusting for socioeconomic, maternal, and infant factors and stratifying by level of perinatal care. We used 2014 birth certificate data for 160 911 breastfed infants to calculate hospital-specific formula supplementation percentages by using multivariable hierarchical logistic regression models. Formula supplementation percentages varied widely among hospitals, from 2.3% to 98.3%, and was lower among level 1 hospitals (18.2%) than higher-level hospitals (50.6%-57.0%). Significant disparities in supplementation were noted for race and ethnicity (adjusted odds ratios [aORs] were 1.54-2.05 for African Americans, 1.85-2.74 for Asian Americans, and 1.25-2.16 for Hispanics, compared with whites), maternal education (aORs were 2.01-2.95 for ≤12th grade, 1.74-1.85 for high school or general education development, and 1.18-1.28 for some college or a college degree, compared with a Master's degree), and insurance coverage (aOR was 1.27-1.60 for Medicaid insurance versus other). Formula supplementation was higher among mothers who smoked, had a cesarean delivery, or diabetes. At all 4 levels of perinatal care, there were exemplar hospitals that met the HealthyPeople 2020 supplementation goal of ≤14.2%. After adjusting for individual risk factors, the hospital-specific, risk-adjusted supplemental formula percentages still revealed a wide variation. A better understanding of the exemplar hospitals could inform future efforts to improve maternity care practices and breastfeeding support to reduce unnecessary formula supplementation, reduce disparities, increase exclusive breastfeeding and breastfeeding duration, and improve maternal and child health outcomes. Copyright © 2017 by the American Academy of Pediatrics.

  2. Inborn errors of metabolism and expanded newborn screening: review and update.

    Science.gov (United States)

    Mak, Chloe Miu; Lee, Han-Chih Hencher; Chan, Albert Yan-Wo; Lam, Ching-Wan

    2013-11-01

    Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning metabolism and/or the accumulation of toxic intermediate metabolites. To date, more than 1000 different IEM have been identified. While individually rare, the cumulative incidence has been shown to be upwards of 1 in 800. Clinical presentations are protean, complicating diagnostic pathways. IEM are present in all ethnic groups and across every age. Some IEM are amenable to treatment, with promising outcomes. However, high clinical suspicion alone is not sufficient to reduce morbidities and mortalities. In the last decade, due to the advent of tandem mass spectrometry, expanded newborn screening (NBS) has become a mandatory public health strategy in most developed and developing countries. The technology allows inexpensive simultaneous detection of more than 30 different metabolic disorders in one single blood spot specimen at a cost of about USD 10 per baby, with commendable analytical accuracy and precision. The sensitivity and specificity of this method can be up to 99% and 99.995%, respectively, for most amino acid disorders, organic acidemias, and fatty acid oxidation defects. Cost-effectiveness studies have confirmed that the savings achieved through the use of expanded NBS programs are significantly greater than the costs of implementation. The adverse effects of false positive results are negligible in view of the economic health benefits generated by expanded NBS and these could be minimized through increased education, better communication, and improved technologies. Local screening agencies should be given the autonomy to develop their screening programs in order to keep pace with international advancements. The development of biochemical genetics is closely linked with expanded NBS. With ongoing advancements in nanotechnology and molecular genomics, the field of biochemical genetics

  3. Scintigraphic hepatobiliary function studies in newborn infants to diagnose biliary hypoplasia or atresia

    International Nuclear Information System (INIS)

    Askari-Sabi, Z.

    1987-01-01

    The results obtained from scintigraphic hepatobiliary function studies, intraoperative cholangiography and histological examinations in a total of 17 infants suspected of having biliary atresia were compared and analysed with reference to the clinical signs and symptoms observed. In most cases, the individual diagnostic procedures led to consistent findings, even though there were some variations in the clinical picture. Patient outcome is largely determined by the site of atresia, due to which fact surgical correction should be carried out as soon as possible, in any case before the 8th week post partum. (TRV) [de

  4. A laminar flow unit for the care of critically ill newborn infants

    Directory of Open Access Journals (Sweden)

    Perez JM

    2013-10-01

    Full Text Available Jose MR Perez,1 Sergio G Golombek,2 Carlos Fajardo,3 Augusto Sola41Stella Maris Hospital, International Neurodevelopment Neonatal Center (CINN, Sao Paulo, Brazil; 2M Fareri Children’s Hospital, Westchester Medical Center, New York Medical College, Valhalla, NY, USA; 3University of Calgary, Calgary, Canada; 4St Jude Hospital, Fullerton, California, CA, USAIntroduction: Medical and nursing care of newborns is predicated on the delicate control and balance of several vital parameters. Closed incubators and open radiant warmers are the most widely used devices for the care of neonates in intensive care; however, several well-known limitations of these devises have not been resolved. The use of laminar flow is widely used in many fields of medicine, and may have applications in neonatal care.Objective: To describe the neonatal laminar flow unit, a new equipment we designed for care of ill newborns.Methods: The idea, design, and development of this device was completed in Sao Paulo, Brazil. The unit is an open mobile bed designed with the objective of maintaining the advantages of the incubator and radiant warmer, while overcoming some of their inherent shortcomings; these shortcomings include noise, magnetic fields and acrylic barriers in incubators, and lack of isolation and water loss through skin in radiant warmers. The unit has a pump that aspirates environmental air which is warmed by electrical resistance and decontaminated with High Efficiency Particulate Air Filter (HEPA filters (laminar flow. The flow is directed by an air flow directioner. The unit has an embedded humidifier to increase humidity in the infant’s microenvironment and a servo control mechanism for regulation of skin temperature.Results: The laminar flow unit is open and facilitates access of care providers and family, which is not the case in incubators. It provides warming by convection at an air velocity of 0.45 m/s, much faster than an incubator (0.1 m/s. The system

  5. Changes in superior sagittal sinus blood velocities due to postural alterations and pressure on the head of the newborn infant.

    Science.gov (United States)

    Cowan, F; Thoresen, M

    1985-06-01

    A pulsed Doppler bidirectional ultrasound system has been used to measure alterations in the blood velocities in the superior sagittal sinus of the healthy term newborn infant in response to unilateral and bilateral jugular venous occlusion. These maneuvers were performed with the baby lying in different positions: supine, prone, and on the side (both left and right), the neck flexed or extended, and with the head in the midline or turned 90 degrees to the side (both left and right). Transfontanel pressure was also measured in these positions during occlusions. Results show that turning the head effectively occludes the jugular vein on the side to which the head is turned and that occluding the other jugular vein does not force blood through this functional obstruction. The effect of different forms of external pressure to the head on the superior sagittal sinus velocities was also examined. Alterations in velocities were frequently profound although they varied considerably from baby to baby. This work shows how readily large fluctuations in cranial venous velocities and pressures can occur in the course of normal handling of babies.

  6. The effect of maternal anthropometric characteristics and social factors on gestational age and birth weight in Sudanese newborn infants

    Directory of Open Access Journals (Sweden)

    Schmalisch Gerd

    2008-07-01

    Full Text Available Abstract Background In Africa low birth weight (LBW ( Methods In 1000 Sudanese mothers with singleton births, anthropometric measurements (weight, height, mid-arm circumference and newborn birth weight were taken within 24 hours of delivery. Furthermore, maternal education and socio-economic status were recorded. The effect of these maternal variables on gestational age and birth weight was investigated by receiver operating characteristic (ROC curves and by multivariate logistic regression analysis. Results Although maternal height was significantly correlated (p = 0.002 with gestational age, we did not find maternal characteristics of value in determining the risk for preterm birth. Birth order was the strongest determinant of birth weight compared to other maternal characteristics. The LBW rate of first born babies of 12.2% was nearly twice that of infants of multiparous mothers. Maternal age and all maternal anthropometric measurements were positively correlated (p 12 years of education. Conclusion Birth order and maternal height were found to be the most important maternal parameters which influences birth weight and the risk for LBW. The duration of maternal education and not social class was found to significantly affect the risk for LBW.

  7. The effect of maternal anthropometric characteristics and social factors on gestational age and birth weight in Sudanese newborn infants.

    Science.gov (United States)

    Elshibly, Eltahir M; Schmalisch, Gerd

    2008-07-18

    In Africa low birth weight (LBW) (birth weight. In 1000 Sudanese mothers with singleton births, anthropometric measurements (weight, height, mid-arm circumference) and newborn birth weight were taken within 24 hours of delivery. Furthermore, maternal education and socio-economic status were recorded. The effect of these maternal variables on gestational age and birth weight was investigated by receiver operating characteristic (ROC) curves and by multivariate logistic regression analysis. Although maternal height was significantly correlated (p = 0.002) with gestational age, we did not find maternal characteristics of value in determining the risk for preterm birth. Birth order was the strongest determinant of birth weight compared to other maternal characteristics. The LBW rate of first born babies of 12.2% was nearly twice that of infants of multiparous mothers. Maternal age and all maternal anthropometric measurements were positively correlated (p birth weight. A maternal height of birth weight, while the number of years of education was positively correlated with birth weight (p = 0.01). The LBW rate decreased from 9.2% for 12 years of education. Birth order and maternal height were found to be the most important maternal parameters which influences birth weight and the risk for LBW. The duration of maternal education and not social class was found to significantly affect the risk for LBW.

  8. Triagem auditiva neonatal: das alterações auditivas à análise molecular Newborn hearing screening: from audiological alterations to molecular analyses

    Directory of Open Access Journals (Sweden)

    Jaqueline Medeiros de Mello

    2011-10-01

    Full Text Available OBJETIVO: verificar a prevalência da deficiência auditiva em um programa de triagem auditiva neonatal e investigar mutações do gene GJB2 naqueles com suspeita de deficiência auditiva. MÉTODO: foi realizado estudo longitudinal com 908 RN a termo, pós-termo e pré-termo que foram submetidos à realização da triagem auditiva por meio do teste de Emissão Otoacústica Evocada por Estímulo Transiente (EOA-T e reflexo cócleo-palpebral (RCP. Para os recém-nascidos, em que houve falha na triagem auditiva em uma ou ambas as orelhas, eram encaminhados para uma segunda avaliação. No reteste, quando o teste de EOA-T resultasse em não passa em uma ou ambas as orelhas, a criança era encaminhada para avaliação e conduta otorrinolaringológica. Após realização do Potencial Evocado Auditivo de Tronco Encefálico (PEATE a equipe de avaliadores decidia se deveria encaminhar a criança para investigação da mutação. Quando havia suspeita de deficiência auditiva era colhido 3 mL de sangue venoso periférico para a pesquisa de mutação do gene da conexina 26. RESULTADOS: foi constatado a presença de deficiência auditiva condutiva em 2 recém-nascidos (0,22% e neurossensorial em 1 (0,11%. Na criança com deficiência auditiva neurossensorial foi detectada a presença da mutação 35delG. CONCLUSÃO: a avaliação audiológica em conjunto com exames moleculares das principais mutações do gene GJB2 em recém-nascidos com suspeita da deficiência auditiva contribuiu para a rapidez do diagnóstico audiológico, visando uma intervenção precoce, aconselhamento genético e prognóstico educacional da criança.PURPOSE: to assess the prevalence of hearing loss in a newborn hearing screening program and investigate mutations in the GJB2 gene in those with suspected hearing loss. METHOD: we performed longitudinal study of 908 term infants, post-term and preterm infants who underwent hearing screening by the test Emission Transient Evoked

  9. Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

    Directory of Open Access Journals (Sweden)

    Tiffany Wotton

    2018-02-01

    Full Text Available Fragile X syndrome (FXS is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS program within Australia. This paper aims to assess the feasibility and reliability of population screening for FXS using a pilot study in one hospital. A total of 1971 mothers consented for 2000 newborns to be tested using routine NBS dried blood spot samples. DNA was extracted and a modified PCR assay with a chimeric CGG primer was used to detect fragile X alleles in both males and females in the normal, premutation, and full mutation ranges. A routine PCR-based fragile X assay was run in parallel to validate the chimeric primer assay. Babies with CGG repeat number ≥59 were referred for family studies. One thousand nine hundred and ninety NBS samples had a CGG repeat number less than 55 (1986 < 50; 10 had premutation alleles >54 CGG repeats (1/123 females and 1/507 males. There was complete concordance between the two PCR-based assays. A recent review revealed no clinically identified cases in the cohort up to 5 years later. The cost per test was $AUD19. Fragile X status can be determined on routine NBS samples using the chimeric primer assay. However, whilst this assay may not be considered cost-effective for population screening, it could be considered as a second-tier assay to a developed immunoassay for fragile X mental retardation protein (FMRP.

  10. Parents are interested in newborn genomic testing during the early postpartum period.

    Science.gov (United States)

    Waisbren, Susan E; Bäck, Danielle K; Liu, Christina; Kalia, Sarah S; Ringer, Steven A; Holm, Ingrid A; Green, Robert C

    2015-06-01

    We surveyed parents to ascertain interest in newborn genomic testing and determine whether these queries would provoke refusal of conventional state-mandated newborn screening. After a brief genetics orientation, parents rated their interest in receiving genomic testing for their healthy newborn on a 5-point Likert scale and answered questions about demographics and health history. We used logistic regression to explore factors associated with interest in genomic testing and tracked any subsequent rejection of newborn screening. We queried 514 parents within 48 hours after birth while still in hospital (mean age (SD) 32.7 (6.4) years, 65.2% female, 61.2% white, 79.3% married). Parents reported being not at all (6.4%), a little (10.9%), somewhat (36.6%), very (28.0%), or extremely (18.1%) interested in genomic testing for their newborns. None refused state-mandated newborn screening. Married participants and those with health concerns about their infant were less interested in newborn genomic testing (P = 0.012 and P = 0.030, respectively). Degree of interest for mothers and fathers was discordant (at least two categories different) for 24.4% of couples. Interest in newborn genomic testing was high among parents of healthy newborns, and the majority of couples had similar levels of interest. Surveying parents about genomic sequencing did not prompt rejection of newborn screening.Genet Med 17 6, 501-504.

  11. Non-invasive gas monitoring in newborn infants using diode laser absorption spectroscopy: a case study

    Science.gov (United States)

    Lundin, Patrik; Svanberg, Emilie K.; Cocola, Lorenzo; Lewander, Märta; Andersson-Engels, Stefan; Jahr, John; Fellman, Vineta; Svanberg, Katarina; Svanberg, Sune

    2012-03-01

    Non-invasive diode laser spectroscopy was, for the first time, used to assess gas content in the intestines and the lungs of a new-born, 4 kg, baby. Two gases, water vapor and oxygen, were studied with two low-power tunable diode lasers, illuminating the surface skin tissue and detecting the diffusely emerging light a few centimeters away. The light, having penetrated into the tissue, had experienced absorption by gas located in the lungs and in the intestines. Very distinct water vapor signals were obtained from the intestines while imprint from oxygen was lacking, as expected. Detectable, but minor, signals of water vapor were also obtained from the lungs, illuminating the armpit area and detecting below the collar bone. Water vapor signals were seen but again oxygen signals were lacking, now due to the difficulties of penetration of the oxygen probing light into the lungs of this full-term baby. Ultra-sound images were obtained both from the lungs and from the stomach of the baby. Based on dimensions and our experimental findings, we conclude, that for early pre-term babies, also oxygen should be detectable in the lungs, in addition to intestine and lung detection of water vapor. The present paper focuses on the studies of the intestines while the lung studies will be covered in a forthcoming paper.

  12. Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.

    Science.gov (United States)

    Céspedes, Nora; Valencia, Angela; Echeverry, Carlos Alberto; Arce-Plata, Maria Isabel; Colón, Cristóbal; Castiñeiras, Daisy E; Hurtado, Paula Margarita; Cocho, Jose Angel; Herrera, Sócrates; Arévalo-Herrera, Myriam

    2017-09-30

    Inborn errors of metabolism (IEM) represent an important public health problem due to current diagnosis and treatment limitations, poor life quality of affected patients, and consequent untimely child death. In contrast to classical methods, tandem mass spectrometry (MS/MS) has allowed simultaneous evaluation of multiple metabolites associated with IEM offering higher sensitivity, low false positive rates and high throughput. Determine concentration levels for amino acids and acylcarnitines in blood of newborns from Colombia, to establish reference values for further use in diagnosis of IEM. Implementation of a method to determine amino acids, acylcarnitines and succinylacetone in newborn dried blood spots using MS/MS, and its application in a cross-sectional study conducted in 891 healthy neonates from Cali and Quibdo cities is described. fifty-seven analytes that allow the diagnosis of more than 40 different pathologies were tested. The method showed to be linear, precise and accurate. Healthy neonates 1-18 days of age were included, 523 from Cali and 368 from Quibdo; 52% male and 48% female. Age-related differences on the concentration levels of amino acids and acylcarnitines were observed whereas no significant differences by gender were found. The study has contributed to reveal the usual concentration levels of amino acids, acylcarnitines and succinylacetone that could be used as reference for the establishment of a newborn metabolic screening program in Colombia.

  13. [Evaluations of newborn screening program performance and enzymatic diagnosis of glucose-6-phosphate dehydrogenase deficiency in Guangzhou].

    Science.gov (United States)

    Tang, F; Huang, Y L; Jiang, X; Jia, X F; Li, B; Feng, Y; Chen, Q Y; Tang, C F

    2018-05-02

    Objective: To reveal the molecular epidemiologic characteristics of glucose-6-phosphate dehydrogenase (G6PD) gene and to evaluate based on the genetic analysis the newborn screening program performance and enzymatic diagnosis of G6PD deficiency in Guangzhou. Methods: G6PD enzyme activities were measured by quantitative fluorescence assay in dry blood spots of 16 319 newborns(8 725 males, 7 594 females) 3-7 days after birth in Guangzhou Newborn Center. They were born in Guangzhou form Oct. 1 to 20, 2016. The cutoff value of G6PD was less than 2.6 U/g Hb in dry blood spots. G6PD deficiency was diagnosed when G6PDblood cells. Genetic analysis of G6PD gene was performed on the dry blood spot samples of 823 newborns (including positive 346, negative 477)with various levels of G6PD enzyme activities through fluorescence PCR melting curve analysis(FMCA) to detect 15 kinds of mutations reported to be common among Chinese.G6PD gene Sanger sequency was performed in seven highly suspicious patients with negative results by FMCA. Results: (1) Using the cutoff value of G6PDT, c.551C>T, c.835A>T hemizygote were found in 3 male's samples, respectively. (3) The estimated prevalence of harboring mutation was 6.0% in males and 13.5% in females according to rates of mutation in samples with various levels of G6PD enzyme activities. Six common mutations were c.1388G>A、c.1376G>T, c.95A> G, c.871G>A, c.1024C>T, c.392G>T, accounting for 95.5% of detected alleles .(4) based on results of G6PD gene analysis, the newborn scereening of G6PD deficiency with cutoff value G6PDblood cells were 95.5%, 97.2%, respectively. Conclusions: The prevalence of G6PD deficiency in males was 6.0% in Guangzhou. Six mutations c.1388G>A, c.1376G>T, c.95A>G, c.871G>A, c.1024C>T, c.392G>T accounted for 95.5%. The cutoff value of G6PD<2.6 U/g Hb innewborn screening program and the criteria of biochemical diagnosis could accurately identify G6PD deficiency . Combined with biochemical and molecular analysis will

  14. Surface-enhanced Raman scattering (SERS) for detection of phenylketonuria for newborn screening

    Science.gov (United States)

    Javanmard, M.; Davis, R. W.

    2014-02-01

    Diagnosis of Phenylketonuria (PKU) in newborns is important because it can potentially help prevent mental retardation since it is treatable by dietary means. PKU results in phenylketonurics having phenylalanine levels as high as 2 mM whereas the normal upper limit in healthy newborns is 120 uM. To this end, we are developing a microfluidic platform integrated with a SERS substrate for detection of high levels of phenylalanine. We have successfully demonstrated SERS detection of phenylalanine using various SERS substrates fabricated using nanosphere lithography, which exhibit high levels of field enhancement. We show detection of SERS at clinically relevant levels.

  15. In praise of a doctor who welcomes the newborn infant person.

    Science.gov (United States)

    Trevarthen, Colwyn

    2013-08-01

    This article recalls how Dr. Berry Brazelton, in the past 50 years, has transformed pediatrics and childcare and supported parents' understanding of their young children. Berry's work as a pediatrician and basic research in the psychobiology of childbirth and infant communication and care have proved to be richly complementary. Brazelton and the author were fortunate to meet in the context of the wide exploration of human nature and adaptations of human intelligence for cooperative life encouraged by Jerome Bruner's vision of how cultural awareness of meaning may be generated in affectionate relations from infancy. This opened a new awareness of the adaptations of the human mind for sharing the creation of a meaningful world by exploring playful imagination with companions. © 2013 Wiley Periodicals, Inc.

  16. Late versus early surgical correction for congenital diaphragmatic hernia in newborn infants.

    Science.gov (United States)

    Moyer, V; Moya, F; Tibboel, R; Losty, P; Nagaya, M; Lally, K P

    2002-01-01

    Congenital diaphragmatic hernia, although rare (1 per 2-4,000 births), is associated with high mortality and cost. Opinion regarding the timing of surgical repair has gradually shifted from emergent repair to a policy of stabilization using a variety of ventilatory strategies prior to operation. Whether delayed surgery is beneficial remains controversial. To summarize the available data regarding whether surgical repair in the first 24 hours after birth rather than later than 24 hours of age improves survival to hospital discharge in infants with congenital diaphragmatic hernia who are symptomatic at or immediately after birth. Search of MEDLINE (1966-2002), EMBASE (1978-2002) and the Cochrane databases using the terms "congenital diaphragmatic hernia" and "surg*"; citations search, and contact with experts in the field to locate other published and unpublished studies. Studies were eligible for inclusion if they were randomized or quasi-randomized trials that addressed infants with CDH who were symptomatic at or shortly after birth, comparing early (24 hours) surgical intervention, and evaluated mortality as the primary outcome. Data were collected regarding study methods and outcomes including mortality, need for ECMO and duration of ventilation, both from the study reports and from personal communication with investigators. Analysis was performed in accordance with the standards of the Cochrane Neonatal Review Group. Two trials met the pre-specified inclusion criteria for this review. Both were small trials (total n<90) and neither showed any significant difference between groups in mortality. Meta-analysis was not performed because of significant clinical heterogeneity between the trials. There is no clear evidence which favors delayed (when stabilized) as compared with immediate (within 24 hours of birth) timing of surgical repair of congenital diaphragmatic hernia, but a substantial advantage to either one cannot be ruled out. A large, multicenter randomized

  17. Evaluating eosin-5-maleimide binding as a diagnostic test for hereditary spherocytosis in newborn infants.

    Science.gov (United States)

    Christensen, R D; Agarwal, A M; Nussenzveig, R H; Heikal, N; Liew, M A; Yaish, H M

    2015-05-01

    Neonates with undiagnosed hereditary spherocytosis (HS) are at risk for developing hazardous hyperbilirubinemia and anemia. Making an early diagnosis of HS in a neonate can prompt anticipatory guidance to prevent these adverse outcomes. A recent comparison study showed that a relatively new diagnostic test for HS, eosin-5-maleimide (EMA)-flow cytometry, performs better than other available tests in confirming HS. However, reports have not specifically examined the performance of this test among neonates. We compared EMA-flow cytometry from blood samples of healthy control neonates vs samples from neonates suspected of having HS on the basis of severe Coombs-negative jaundice and spherocytes on blood film. The diagnosis of HS was later either confirmed or excluded based on clinical findings and next generation sequencing (NGS) after which we correlated the EMA-flow results with the diagnosis. EMA-flow was performed on the blood of 31 neonates; 20 healthy term newborns and 11 who were suspected of having HS. Eight of the 11 were later confirmed positive for HS and one was confirmed positive for hereditary elliptocytosis (HE). All nine had persistently abnormal erythroid morphology, reticulocytosis and anemia, and eight of the nine had relevant mutations discovered using NGS. The other was confirmed positive for HS on the basis that a parent had HS, and the neonate's spherocytosis, reticulocytosis and anemia persisted. The 20 healthy controls and the 2 in whom HS was initially suspected but later excluded all had EMA-flow results in the range reported in healthy children and adults. In contrast, all nine in whom HS or HE was confirmed had abnormal EMA-flow results consistent with previous reports in older children and adults with HS. Although our sample size is small, our findings are consistent with the literature in older children and adults suggesting that EMA-flow cytometric testing performs well in supporting the diagnosis of HS/HE during the early neonatal

  18. A study of the effects of pinealectomy on intestinal cell proliferation in infant newborn rats

    Directory of Open Access Journals (Sweden)

    Dalio Marcelo Belini

    2006-01-01

    Full Text Available PURPOSE: Study the proliferation rate of jejunum and large intestine crypt epithelial cells, in rats pinealectomized immediately after borning. METHODS: Twenty-four male Wistar rats were distributed into two groups: Acute group (n=12 and Chronic group (n=12. Six animals of each group were operated for removal of the pineal gland (pinealectomy-PnX, and other six were controls (sham pinealectomy-C. Animals from acute and chronic group were sacrificed 15 and 90 days after the surgery, respectively. RESULTS: In acute group, pinealectomy of new-born rats has not caused significant alteration in cell proliferation (PnX=58,77?1,77 and C=60,88?1,10 in the descending colon/ PnX=31,56?0,45 and C=31,73?0,47 in the proximal jejunum and in crypt cell population (PnX=24,92?4,82 and C=23,60?2,48 in the descending colon/ PnX=39,92?3,49 and C=44,32?5,56 in the proximal jejunum. However, in chronic group there was an uprising crypt cell production per crypt in the proximal jejunum (PnX=57,54?2,19 and C=47,19?7,3and in the descending colon (PnX=37,78?2,22 and C=17,92?2,28. CONCLUSION: As the increase of intestinal crypts epithelial cells in chronic group is a carcinogenesis predetermining factor, the understanding of the interaction between pineal gland and this event has great importance.

  19. Screening for seemingly healthy newborns with congenital cytomegalovirus infection by quantitative real-time polymerase chain reaction using newborn urine: an observational study

    OpenAIRE

    Yamaguchi, Akira; Oh-ishi, Tsutomu; Arai, Takashi; Sakata, Hideaki; Adachi, Nodoka; Asanuma, Satoshi; Oguma, Eiji; Kimoto, Hirofumi; Matsumoto, Jiro; Fujita, Hidetoshi; Uesato, Tadashi; Fujita, Jutaro; Shirato, Ken; Ohno, Hideki; Kizaki, Takako

    2017-01-01

    Objective Approximately 8?10% of newborns with asymptomatic congenital cytomegalovirus (cCMV) infection develop sensorineural hearing loss (SNHL). However, the relationship between CMV load, SNHL and central nervous system (CNS) damage in cCMV infection remains unclear. This study aimed to examine the relationship between urinary CMV load, SNHL and CNS damage in newborns with cCMV infection. Study design The study included 23?368 newborns from two maternity hospitals in Saitama Prefecture, Ja...

  20. A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.

    Science.gov (United States)

    Armour, Christine M; Brebner, Alison; Watkins, David; Geraghty, Michael T; Chan, Alicia; Rosenblatt, David S

    2013-07-01

    A neonate, who was found to have an elevated C3/C2 ratio and minimally elevated propionylcarnitine on newborn screening, was subsequently identified as having the rare cblF inborn error of vitamin B12 (cobalamin) metabolism. This disorder is characterized by the retention of unmetabolized cobalamin in lysosomes such that it is not readily available for cellular metabolism. Although cultured fibroblasts from the patient did not show the expected functional abnormalities of the cobalamin-dependent enzymes, methylmalonyl-CoA mutase and methionine synthase, they did show reduced synthesis of the active cobalamin cofactors adenosylcobalamin and methylcobalamin. Mutation analysis of LMBRD1 established that the patient had the cblF disorder. Treatment was initiated promptly, and the patient showed a robust response to regular injections of cyanocobalamin, and she was later switched to hydroxocobalamin. Currently, at 3 years of age, the child is clinically well, with appropriate development. Adjusted newborn screening cutoffs in Ontario allowed detection of a deficiency that might not have otherwise been identified, allowing early treatment and perhaps preventing the adverse sequelae seen in some untreated patients.

  1. The Effect of Maternal Body Composition and Triglyceride Levels on Newborn Weight in Non-Diabetic Women with Positive Diabetic Screens

    OpenAIRE

    Cüneyt Eftal Taner; Seçil Kurtulmuş; Ümit Nayki; Ayşen Kızılyar; Yasemin Baskın

    2008-01-01

    OBJECTIVE: To determine the effect of maternal body composition and triglyceride levels on newborn weight in nondiabetic women with positive diabetic screening. STUDY DESIGN : 40 pregnant women with positive diabetic screenings and negative glucose tolerance tests were enrolled as the study group. 72 pregnant women with negative diabetic screenings were enrolled as the control group. 50-gram glucose challenge tests were performed at 24-32 weeks of gestations and serum lipid levels were mea...

  2. Assessment of a new piezoelectric transducer sensor for noninvasive cardiorespiratory monitoring of newborn infants in the NICU.

    Science.gov (United States)

    Sato, Shinichi; Ishida-Nakajima, Wako; Ishida, Akira; Kawamura, Masanari; Miura, Shinobu; Ono, Kyoichi; Inagaki, Nobuya; Takada, Goro; Takahashi, Tsutomu

    2010-01-01

    Electrocardiogram (ECG) and impedance pneumography (IPG), the most widely used techniques for cardiorespiratory monitoring in the neonatal intensive care unit (NICU), have the disadvantage of causing skin damage when used for very premature newborn infants. To prevent skin damage, we designed a new piezoelectric transducer (PZT) sensor. To assess the potential of the PZT sensor for cardiorespiratory monitoring in the NICU. The PZT sensor was placed under a folded towel under a neonate to detect an acoustic cardiorespiratory signal, from which heart rate (HR) and breathing rate (BR) were calculated, together with simultaneous ECG/IPG recording for 1-9 days for long and brief (1-min) assessment. The brief assessment showed average correlation coefficients of 0.92 +/- 0.12 and 0.95 +/- 0.02 between instantaneous HRs/BRs detected by the PZT sensor and ECG/IPG in 27 and 11 neonates examined. During the long assessment, the HR detection rate by the PZT sensor was approximately 10% lower than that by ECG (82.6 +/- 12.9 vs. 91.8 +/- 4.1%; p = 0.001, n = 27), although comparable (90.3 +/- 4.1 vs. 92.5 +/- 3.4%, p = 0.081) in approximately 70% (18/27) of neonates examined; BR detection rate was comparable between the PZT sensor and IPG during relatively stable signal conditions (95.9 +/- 4.0 vs. 95.3 +/- 3.5%; p = 0.38, n = 11). The PZT sensor caused neither skin damage nor body movement increase in all neonates examined. The PZT sensor is noninvasive and does not cause skin irritation, and we believe it does provide a reliable, accurate cardiorespiratory monitoring tool for use in the NICU, although the issue of mechanical-ventilation noise remains to be solved. Copyright 2010 S. Karger AG, Basel.

  3. Impact of retrospective calibration algorithms on hypoglycemia detection in newborn infants using continuous glucose monitoring.

    Science.gov (United States)

    Signal, Matthew; Le Compte, Aaron; Harris, Deborah L; Weston, Philip J; Harding, Jane E; Chase, J Geoffrey

    2012-10-01

    Neonatal hypoglycemia is common and may cause serious brain injury. Diagnosis is by blood glucose (BG) measurements, often taken several hours apart. Continuous glucose monitoring (CGM) could improve hypoglycemia detection, while reducing the number of BG measurements. Calibration algorithms convert sensor signals into CGM output. Thus, these algorithms directly affect measures used