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.
Vernooij-van Langen, A.M.M.; Pal, S.M. van der; Reijntjens, A.J.T.; Loeber, J.G.; Dompeling, E.; Dankert-Roelse, J.E.
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
Stewart, D L; Pearlman, A
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.
Lak, Rohollah; Yazdizadeh, Bahareh; Davari, Majid; Nouhi, Mojtaba; Kelishadi, Roya
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
... 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 ...
Gustavo J. C. Borrajo PhD
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.
Cüneyt Eftal Taner; Seçil Kurtulmuş; Ümit Nayki; Ayşen Kızılyar; Yasemin Baskın
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...
Harder, Katja Majlund; Cowan, Susan; Eriksen, Mette Brandt
to examine the effectiveness of universal HBV-screening of pregnant women and HBV-immunizations of their newborn, and to provide a prevalence-estimate for HBV in Denmark. On a opt out basis all women in Denmark attending antenatal care were tested for hepatitis B serology. Vaccination data of the newborns...... follow-up two transmissions (0.5%) have been notified. Among children born of the positive mothers prior to the trial-period 7.3% had been notified. Thus the prevalence of HBV positive mothers has more than doubled in Denmark over the last 40 years, but among women of Danish origin it has decreased 10......-fold. By replacing selective screening with universal, identification of newborns in need of HBV-immunization was increased from 50% to almost complete coverage, and also identifies mothers with high viral load for evaluation of pre-term treatment to interrupt in utero transmission....
James R. Bonham
Full Text Available While the early and asymptomatic recognition of treatable conditions offered by newborn screening confers clear health benefits for the affected child, the clinical referral of patients with screen positive results can cause significant harm for some families. The use of pivalate-containing antibiotics and more recently the inclusion of neopentanoate as a component within moisturising creams used as nipple balms by nursing mothers can result in a significant number of false positive results when screening for isovaleric acidaemia (IVA by measuring C5 acylcarnitine. A recent survey conducted within centres from nine countries indicated that this form of contamination had been or was a significant confounding factor in the detection of IVA in seven of the nine who responded. In three of these seven the prominent cause was believed to derive from the use of moisturising creams and in another three from antibiotics containing pivalate; one country reported that the cause was mixed. As a result, four of these seven centres routinely perform second tier testing to resolve C5 isobars when an initial C5 result is elevated, and a fifth is considering making this change within their national programme. The use of creams containing neopentanoate by nursing mothers and evolving patterns in the prescription of pivalate-containing antibiotics during pregnancy require those involved in the design and operation of newborn screening programmes used to detect IVA and the doctors who receive clinical referrals from these programmes to maintain an awareness of the potential impact of this form of interference on patient results.
Salinas, Danieli B; Sosnay, Patrick R; Azen, Colleen; Young, Suzanne; Raraigh, Karen S; Keens, Thomas G; Kharrazi, Martin
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.
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.
von Voß, Hubertus
our former health technology assessment report was updated. Results: Universal newborn hearing screening programs are able to substantially reduce the age at identification and the age at intervention of children with CHL to six months of age in the German health care setting. High coverage rates, low fail rates and - if tracking systems are implemented – high follow-up-rates to diagnostic evaluation for test positives were achieved. New publications on potential benefits of early intervention could not be retrieved. For a final assessment of cost-effectiveness of newborn hearing screening evidence based long-term data are lacking. Decision analytic models with lifelong time horizon assuming that early detection results in improved language abilities and lower educational costs and higher life time productivity showed a potential of UNHS for long term cost savings compared to selective screening and no screening. For the short-term cost-effectiveness with a time horizon up to diagnostic evaluation more evidence based data are available. The average costs per case diagnosed range from 16,000 EURO to 33,600 EURO in Germany and hence are comparable to the cost of other implemented newborn screening programs. Empirical data for cost of selective screening in the German health care setting are lacking. Our decision analytic model shows that selective screening is more cost-effective but detects only 50% of all cases of congenital hearing loss. Discussion: There is good evidence that UNHS-Programs with appropriate quality management can reduce the age at start of intervention below six months. Up to now there is no indication of considerable negative consequences of screening for children with false positive test results and their parents. However, it is more difficult to prove the efficacy of early intervention to improve long-term outcomes. Randomized clinical trials of the efficacy of early intervention for children with CHL hearing losses are inappropriate because of
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.
Horvath, Gabriella A; Davidson, A G F; Stockler-Ipsiroglu, Sylvia G
. 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...
Din, Erica S; Brown, Cedric J; Grosse, Scott D; Wang, Chengbin; Bialek, Stephanie R; Ross, Danielle S; Cannon, Michael J
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.
Berrettini, Stefano; Ghirri, Paolo; Lazzerini, Francesco; Lenzi, Giovanni; Forli, Francesca
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
Stroek, Kevin; Bouva, Marelle J; Schielen, Peter C J I; Vaz, Frédéric M; Heijboer, Annemieke C; de Jonge, Robert; Boelen, Anita; Bosch, Annet M
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
Vancor, Emily; Shapiro, Eugene D; Loyal, Jaspreet
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: firstname.lastname@example.org.
... 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, ...
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
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.
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
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).
Diekman, Eugene; de Sain-van der Velden, Monique; Waterham, Hans; Kluijtmans, Leo; Schielen, Peter; van Veen, Evert Ben; Ferdinandusse, Sacha; Wijburg, Frits; Visser, Gepke
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
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…
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.
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.
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
Merritt, J Lawrence; Brody, Linnea L; Pino, Gisele; Rinaldo, Piero
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.
Fagela-Domingo, C; Padilla, C D; Cutiongco, E M
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.
Diekman, Eugene; de Sain-van der Velden, Monique; Waterham, Hans; Kluijtmans, Leo; Schielen, Peter; van Veen, Evert Ben; Ferdinandusse, Sacha; Wijburg, Frits; Visser, Gepke
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.
Green, A; Pollitt, R J
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.
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
Johnson, Kay; Lloyd-Puryear, Michele A; Mann, Marie Y; Ramos, Lauren Raskin; Therrell, Bradford L
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.
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
Stuart James Wright
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.
Consuelo Cantú-Reyna MD
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.
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
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.
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…
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.
Houston, K. Todd; Bradham, Tamala S.; Munoz, Karen F.; Guignard, Gayla Hutsell
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…
van Trotsenburg, A. S. P.; Vulsma, T.; van Santen, H. M.; Cheung, W.; de Vijlder, J. J. M.
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
Pezzuti, Isabela L; Barra, Cristina B; Mantovani, Rafael M; Januário, José N; Silva, Ivani N
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.
Ombrone, Daniela; Giocaliere, Elisa; Forni, Giulia; Malvagia, Sabrina; la Marca, Giancarlo
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.
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.
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
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
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
Taraka R. Donti
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.
la Marca, Giancarlo
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.
Shakespeare, Lynette; Downing, Melanie; Allen, Joyce; Casbolt, Ann-Marie; Ellin, Sheila; Maloney, Martin; Race, Gillian; Bonham, Jim
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.
Vries, Jutte Jacoba Catharina de
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...
Pastorino, Giancarlo; Sergi, Paola; Mastrangelo, Massimo; Ravazzani, Paolo; Tognola, Gabriella; Parazzini, Marta; Mosca, Fabio; Pugni, Lorenza; Grandori, Ferdinando
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
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.
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
Yang, Lan; Chen, Jiajia; Shen, Bairong
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.
Lund, Allan Meldgaard; Hougaard, David Michael; Simonsen, Henrik
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...
Hayeems, Robin Z; Miller, Fiona A; Little, Julian; Carroll, June C; Allanson, Judith; Chakraborty, Pranesh; Wilson, Brenda J; Bytautas, Jessica P; Christensen, Robert J
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.
Heidendael, J. F.; Tabbers, M. M.; de Vreede, I.
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
Burg, S. van der; Verweij, M.
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
Zhao, De-Hua; Shen, Yong; Gong, Jiao-Mei; Meng, Yun; Su, Li; Zhang, Xia
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.
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.
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
Zhang, Shun-Xian; He, Xiao-Zhou; Wang, Shi-Wen; Wang, Xiao-Fang
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.
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.
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.
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
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.
Ravi, Rohit; Gunjawate, Dhanshree R; Yerraguntla, Krishna; Rajashekhar, Bellur
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.
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.
Riley, Catharine; Wheeler, Anne
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.
Jawin, Vida; Ang, Hak-Lee; Omar, Asma; Thong, Meow-Keong
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
Fujii, Tomoyuki; Oka, Akira; Morioka, Ichiro; Moriuchi, Hiroyuki; Koyano, Shin; Yamada, Hideto; Saito, Shigeru; Sameshima, Hiroshi; Nagamatsu, Takeshi; Tsuchida, Shinya; Inoue, Naoki
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.
Verma, Ishwar C; Bijarnia-Mahay, Sunita; Jhingan, Geetu; Verma, Jyotsna
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.
Burg, S. van der; Oerlemans, A.J.M.
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
Therrell, Bradford L
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.
Molini, E; Cristi, M C; Lapenna, R; Calzolaro, L; Muzzi, E; Ciciriello, E; Della Volpe, A; Orzan, E; Ricci, G
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.
Avard, Denise; Vallance, Hilary; Greenberg, Cheryl; Potter, Beth
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.
Ghafoor, F.; Mohsin, S.N.; Mukhtar, S.; Hussain, W.
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
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
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.
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.
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 CDCâs Newborn Screening Quality Assurance Program and the role laboratories play in keeping babies healthy.
Ganda, Augustine Josie
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.
Renata Mota Mamede de Carvallo; Carla Gentile Matas; Isabela de Souza Jardim
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...
Dollard, Sheila C; Schleiss, Mark R; Grosse, Scott D
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.
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
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
Levy-Fisch, Jill; Gartzke, Micki; Leight, Kelly
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…
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.
Arnold, Cosby G
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.
Ricard, Caroline A; Dammann, Christiane E L; Dammann, Olaf
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.
Grosse, Scott D; Dollard, Sheila; Ross, Danielle S; Cannon, Michael
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.
Winter, Theresa; Lange, Anja; Hannemann, Anke; Nauck, Matthias; Müller, Cornelia
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.
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
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.
Lawson, A J; Bernstone, L; Hall, S K
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.
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
Lam, Maggie Yee Yan; Wong, Eddie Chi Ming; Law, Chi Wai; Lee, Helena Hui Ling; McPherson, Bradley
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
Cebulla, Mario; Shehata-Dieler, Wafaa
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
Radha Rama Devi, A; Ananthalakshmi, Y; Srimannarayana Rao, K
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.
Ernesto Carlos González Reyes PhD
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.
Lee, C; Gong, Yanzhang; Brok, J
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....
Moody, Louise; Atkinson, Lou; Kehal, Isher; Bonham, James R
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.
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 CDCâs 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.
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
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.
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.
Barkai, Galia; Barzilai, Asher; Mendelson, Ella; Tepperberg-Oikawa, Michal; Roth, Daphne Ari-Even; Kuint, Jacob
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.
Jakubíková, Janka; Kabátová, Zuzana; Pavlovcinová, Gabriela; Profant, Milan
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
Grosse, Scott D; Thompson, John D; Ding, Yao; Glass, Michael
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
Full Text Available Introduction: Toxoplasmosis is a world-wide protozoan-zoonosis caused by Toxoplasma gondii (T. gondii. Primary infections during pregnancy may result in miscarriages, still births, and congenital malformations in the new born. Studies on vertical transmission of toxoplasmosis from India are lacking. Aim: To estimate the seroprevalence of antibodies to T. gondii among pregnant women from the rural population of Kolar and to document vertical transmissions, if any. Materials and Methods: Anti-Toxoplasma IgG levels were estimated among 251 women admitted for labour at a tertiary care hospital in Kolar, Karnataka, between December 2014 and October 2016, by Enzyme Linked Immunosorbent Assay (ELISA. Demographic, socio-economic, and obstetrical data along with exposure to risk factors among the participants were recorded. Two hundred and fifty one cord blood samples of the newborns of the above mothers were tested for anti-Toxoplasma IgM antibodies by µ capture ELISA. The validity of an IgM positive reaction was evaluated. The differences in proportions were analysed by the Chi-square test and the differences in means were analysed by the unpaired t-test. A p-value <0.05 was considered significant. Results: IgG antibodies to T. gondii could be detected in 53 (21.1% of the mothers tested; the titres ranged between 35 IU/ml – 350 IU/ml. Mothers from lower socio-economic strata had significantly higher prevalence as compared to mothers from middle classes. The seropositivity was not significantly associated with gravid status, literacy, occupation, exposure to cats, consumption of raw meat, salad, or drinking untreated water, gestational age, previous history of abortion or the mode of delivery. Cord blood samples from 5 (2 % of the newborns gave positive IgM reactions, but they were interpreted as false positives as there was no evidence of infection in their respective mothers or the baby lacked antibodies on follow up. Conclusion: About one fifth of
Ari-Even Roth, Daphne; Lubin, Daniel; Kuint, Jacob; Teperberg-Oikawa, Michal; Mendelson, Ella; Strauss, Tzipora; Barkai, Galia
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.
Burton, Sarah K; Withrow, Kara; Arnos, Kathleen S; Kalfoglou, Andrea L; Pandya, Arti
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.
Khneisser, I; Adib, S; Assaad, S; Megarbane, A; Karam, P
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.
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
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.
Maria Francisca Colella-Santos
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%.
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.
Chaves, Juliana Nogueira; Libardi, Ana Lívia; Agostinho-Pesse, Raquel Sampaio; Morettin, Marina; Alvarenga, Kátia de Freitas
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.
Oudkerk, Matthijs; Devaraj, Anand; Vliegenthart, Rozemarijn
Lung cancer screening with low-dose CT can save lives. This European Union (EU) position statement presents the available evidence and the major issues that need to be addressed to ensure the successful implementation of low-dose CT lung cancer screening in Europe. This statement identified...... specific actions required by the European lung cancer screening community to adopt before the implementation of low-dose CT lung cancer screening. This position statement recommends the following actions: a risk stratification approach should be used for future lung cancer low-dose CT programmes...... need to set a timeline for implementing lung cancer screening....
Sawyer, Susan M; Glazner, Judith A
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
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
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
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
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.
Sequi Canet, José Miguel; Sala Langa, Maria José; Collar Del Castillo, José Ignacio
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.
Downing, Gregory J; Zuckerman, Alan E; Coon, Constanze; Lloyd-Puryear, Michele A
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
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.
Choi, K Yeon; Schimmenti, Lisa A; Jurek, Anne M; Sharon, Bazak; Daly, Kathy; Khan, Cindy; McCann, Mark; Schleiss, Mark R
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.
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
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.
Hamers, Françoise F; Rumeau-Pichon, Catherine
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...
Callaway, Natalia F; Ludwig, Cassie A; Blumenkranz, Mark S; Jones, Jennifer Michelle; Fredrick, Douglas R; Moshfeghi, Darius M
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
Iwanowska, B.; Kopys-Wiszniewska, I.; Sands, D.
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
Pavlovski, Christopher J
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...
Renata Mota Mamede de Carvallo
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.
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
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
Milligan, D W
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...
Wroblewska-Seniuk, Katarzyna; Dabrowski, Piotr; Greczka, Grazyna; Szabatowska, Katarzyna; Glowacka, Agata; Szyfter, Witold; Mazela, Jan
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
Katharina Elisabeth Fischer
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.
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.
Boneh, A; Andresen, Brage Storstein; Gregersen, Niels
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....
Spacil, Zdenek; Tatipaka, Haribabu; Barcenas, Mariana; Scott, C Ronald; Turecek, Frantisek; Gelb, Michael H
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.
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.
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
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.
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.
Adelola, O A
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.
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
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.
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
Cecelia A. Bellcross
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.
Ding, Yao; Thompson, John D; Kobrynski, Lisa; Ojodu, Jelili; Zarbalian, Guisou; Grosse, Scott D
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.
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.
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
Howard, Jonathan; Hall, Beverley; Brennan, Lyndall Eve; Arbuckle, Susan; Craig, Maria E; Graf, Nicole; Rawlinson, William
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.
Mary T. Bausch-Jurken
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.
Érica Cesário Defilipo
Full Text Available Abstract Introduction: The Kangaroo Mother Care (KMC method is a significant neonatal alternative that ensures better quality humanized care for preterm and low birth weight newborns. Objective: To analyze the immediate physiological effects of the kangaroo position in critically ill newborns. Methods: Open clinical trial with parallel interventions, involving preterm (up to 28 days old low or very low birth weight newborns (minimum weight of 1,250 grams of both sexes, that were clinically stable and undergoing enteral nutrition. The degree of respiratory distress was assessed and quantified using the Silverman-Anderson scoring system. Heart rate and peripheral oxygen saturation were collected using a pulse oximeter. Respiratory rate was determined by auscultation for one minute. The newborns were submitted to the kangaroo position once only, for 90 minutes. Results: Participants were 30 newborns, 56.7% of which were girls. Comparison of the variables before and after application of the kangaroo position using the Wilcoxon test showed a statistically significant reduction in respiratory rate (p = 0.02 and Silverman-Anderson score (p < 0.01. The remaining variables showed no significant differences: heart rate (p = 0.21, peripheral oxygen saturation (p = 0.26 and axillary temperature (p = 0.12. Conclusion: There was a decline in the respiratory rate and Silverman-Anderson score after application of the kangaroo position, while peripheral oxygen saturation, axillary temperature and heart rate remained stable.
Cannon, Michael J.; Griffiths, Paul D.; Aston, Van; Rawlinson, William D.
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,...
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 ...
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
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.
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.
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
in AGS can be identified in the newborn period, before symptom onset. Additionally, since C26:0 Lyso-PC screening is currently used in X-ALD newborn screening panels, clinicians should be alert to the fact that AGS infants may present as false positives during X-ALD screening. Copyright © 2017 Elsevier Inc. All rights reserved.
D. I. Sadykova
Full Text Available Research objective: to assess the diagnostic significance of the pulse oximetry performed by the newborn for the 3rd hour of life to identify critical conditions and to justify the expediency of further introduction of this technology in the work of obstetric institutions.Results. In 5 maternity hospitals of the Republic of Tatarstan, from April 2016 to February 2017, 8358 88.4% of newborns were pulsometrically screened. Positive results were obtained in 95 (1.14% patients. Because of screening, 13 newborns were diagnosed with congenital heart defects, not diagnosed in utero, in the first hours of life, five of them were critical. All newborns with critical congenital heart defects were successfully operated. Besides, 20 patients had persistent pulmonary hypertension, 30 had intrauterine pneumonia.Conclusions. The measurement of saturation at the 3rd hour of life of a newborn allows avoiding life-threatening complications in children with critical congenital heart defects and persistent pulmonary hypertension and in a stable state to transfer them to a further treatment stage.
Tang, F; Huang, Y L; Jiang, X; Jia, X F; Li, B; Feng, Y; Chen, Q Y; Tang, C F
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
Vries, Jutte Jacoba Catharina de
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
Adachi, Nodoka; Ito, Ken; Sakata, Hideaki; Yamasoba, Tatsuya
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.
Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M
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...
Maria Ribeiro Lacerda
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.
Gustavo Adolfo Giraldo
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.
Kopacek, Cristiane; Prado, Mayara J; da Silva, Claudia M D; de Castro, Simone M; Beltrão, Luciana A; Vargas, Paula R; Grandi, Tarciana; Rossetti, Maria L R; Spritzer, Poli Mara
To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients. Copyright © 2018. Published by Elsevier Editora Ltda.
Appelbaum, Eric N; Howell, Jessica B; Chapman, Derek; Pandya, Arti; Dodson, Kelley M
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.
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.
Lobo, G.; Ladron de Guevara, D.; Perez, A.; Donoso, G.; Jimenez, C.; Arnello, F.; Vivanco, X.
The aim of this study was to analyse the thyroid scintigraphy (TS) findings in 279 newborn with neonatal TSH (TSHnn) levels above 20 uUI/ml, detected in the national program of newborn screening of CH and phenylketonuria, and to compare them with: 1) final diagnosis, estimating its positive (PPV) and negative predictive value (NPV) and 2) TSHnn levels. Materials and Method: Thyroid scintigraphy of 279 newborn (57.3% girls) who presented TSHnn levels > 20 uUI/ml were revised, classifying them in eutopic gland (EuG), ectopic gland (EcG) and absence of contrast (AC). EuG was classified by visual and quantitative criteria in: normal contrast and size, goiter, and decreased contrast (DC). Tc99m-pertechnetate TS was performed average at 19th life's day (SD:11 days) with a gammacamera- computer system. The patients were separated according to hormonal confirmatory levels in: CH, hyperthyrotropinaemia (HT) and euthyroid. We compared TS results with final diagnosis and also with TSHnn levels (>= or 50 uUI/ml group (p<0.001). Moreover, the former group presented bigger proportion of CH newborns and of EcG scans than < 50uUI/ml patients (p<0.001). EcG and goiter condition had a PPV for CH of 100% and 79.6%, respectively. The NPV of normal TS was 86.7%. Conclusion: 1) Newborns with TSHnn levels larger than 20 uUI/ml show a high frequency of abnormal TS. 2) The EcG is highly predictive of CH. 3) Goiter and AC associated to TSHnn levels above 50 uUI/ml support strongly CH diagnosis. 4) Normal TS correspond very likely to euthyroid newborn, specially when TSHnn is lower than 50 uUI/ml
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.
Cannon, Michael J; Griffiths, Paul D; Aston, Van; Rawlinson, William D
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.
Cannon, Michael J.; Griffiths, Paul D.; Aston, Van; Rawlinson, William D.
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
..., 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...
Tubman, Venée N; Marshall, Roseda; Jallah, Wilhemina; Guo, Dongjing; Ma, Clement; Ohene-Frempong, Kwaku; London, Wendy B; Heeney, Matthew M
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.
Kawada, Jun-ichi; Torii, Yuka; Kawano, Yoshihiko; Suzuki, Michio; Kamiya, Yasuko; Kotani, Tomomi; Kikkawa, Fumitaka; Kimura, Hiroshi; Ito, Yoshinori
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.
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.
Kadambari, Seilesh; Luck, Suzanne; Davis, Adrian; Walter, Simone; Agrup, Charlotte; Atkinson, Claire; Stimson, Laura; Williams, Eleri; Berrington, Janet; Griffiths, Paul; Sharland, Mike
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.
Vos, Bénédicte; Senterre, Christelle; Lagasse, Raphaël; Levêque, Alain
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
Maines, Evelina; Gugelmo, Giorgia; Tadiotto, Elisa; Pietrobelli, Angelo; Campostrini, Natascia; Pasini, Andrea; Ion-Popa, Florina; Vincenzi, Monica; Teofoli, Francesca; Camilot, Marta; Bordugo, Andrea
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.
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
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.
Nordentoft, Merete; Tidselbak Larsen, Janne; Pedersen, Carsten Bøcker
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...
van der Burg, Simone; Oerlemans, Anke
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.
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.
Shane C. Quinonez
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.
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
Depenbrock, A; Matulat, P; am Zehnhoff-Dinnesen, A
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.
Katherine G. Langley
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.
Mak, Chloe Miu; Lee, Han-Chih Hencher; Chan, Albert Yan-Wo; Lam, Ching-Wan
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
Letícia Lima Leão
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
Hamers Françoise F
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
Hamers, Françoise F; Rumeau-Pichon, Catherine
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
Vos, Bénédicte; Lagasse, Raphaël; Levêque, Alain
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
Qi, Beier; Cheng, Xiaohua; En, Hui; Liu, Bo; Peng, Shichun; Zhen, Yong; Cai, Zhenghua; Huang, Lihui; Zhang, Luo; Han, Demin
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
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.
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
Pedersen, Christina B; Bischoff, Claus; Christensen, Ernst
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...
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.
Fogel, Benjamin N; Nguyen, Hong Loan T; Smink, Gayle; Sekhar, Deepa L
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.
Paquin, Ryan S.; Peay, Holly L.; Gehtland, Lisa M.; Lewis, Megan A.; Bailey, Donald B.
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
Paquin, Ryan S; Peay, Holly L; Gehtland, Lisa M; Lewis, Megan A; Bailey, Donald B
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.
Bunnell, Megan E; Tarini, Beth A; Petros, Michael; Goldenberg, Aaron J; Arjunan, Aishwarya; Wicklund, Catherine
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.
Sabarense, Alessandra P; Lima, Gabriella O; Silva, Lívia M L; Viana, Marcos Borato
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.
Alessandra P. Sabarense
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.
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 . 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.
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
Potter, B K; Avard, D; Entwistle, V; Kennedy, C; Chakraborty, P; McGuire, M; Wilson, B J
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.
Auray-Blais, Christiane; Maranda, Bruno; Lavoie, Pamela
Creatine synthesis and transport disorders, Triple H syndrome and ornithine transcarbamylase deficiency are treatable inborn errors of metabolism. Early screening of patients was found to be beneficial. Mass spectrometry analysis of specific urinary biomarkers might lead to early detection and treatment in the neonatal period. We developed a high-throughput mass spectrometry methodology applicable to newborn screening using dried urine on filter paper for these aforementioned diseases. A high-throughput methodology was devised for the simultaneous analysis of creatine, guanidineacetic acid, orotic acid, uracil, creatinine and respective internal standards, using both positive and negative electrospray ionization modes, depending on the compound. The precision and accuracy varied by screening for inherited disorders by biochemical laboratories. Copyright © 2014 Elsevier B.V. All rights reserved.
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.
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
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.
Clevenger, L; Britton, J R
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.
Callaway, Natalia F.; Ludwig, Cassie A.; Blumenkranz, Mark S.; Jones, Jennifer Michelle; Fredrick, Douglas R.; Moshfeghi, Darius M.
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
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
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 email@example.com.
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
Botkin, Jeffrey R; Rothwell, Erin; Anderson, Rebecca A; Rose, Nancy C; Dolan, Siobhan M; Kuppermann, Miriam; Stark, Louisa A; Goldenberg, Aaron; Wong, Bob
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
Barben, Juerg; Rueegg, Corina S; Jurca, Maja; Spalinger, Johannes; Kuehni, Claudia E
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.
Pereira, Priscila Karla Santana; Martins, Adriana de Souza; Vieira, Márcia Ribeiro; Azevedo, Marisa Frasson de
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...
Potter, Beth K; Etchegary, Holly; Nicholls, Stuart G; Wilson, Brenda J; Craigie, Samantha M; Araia, Makda H
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.
Kerruish, Nicola J; Healey, Dione M; Gray, Andrew R
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
Sander, J.; Niehaus, C.
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
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
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
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.
Taksler, Glen B; Keating, Nancy L; Rothberg, Michael B
False-positive cancer screening results may affect a patient's willingness to obtain future screening. The authors conducted logistic regression analysis of 450,484 person-years of electronic medical records (2006-2015) in 92,405 individuals aged 50 to 75 years. Exposures were false-positive breast, prostate, or colorectal cancer screening test results (repeat breast imaging or negative breast biopsy ≤3 months after screening mammography, repeat prostate-specific antigen [PSA] test ≤3 months after PSA test result ≥4.0 ng/mL or negative prostate biopsy ≤3 months after any PSA result, or negative colonoscopy [without biopsy/polypectomy] ≤6 months after a positive fecal occult blood test). Outcomes were up-to-date status with breast or colorectal cancer screening. Covariates included prior screening history, clinical information (eg, family history, obesity, and smoking status), comorbidity, and demographics. Women were more likely to be up to date with breast cancer screening if they previously had false-positive mammography findings (adjusted odds ratio [AOR], 1.43 [95% confidence interval, 1.34-1.51] without breast biopsy and AOR, 2.02 [95% confidence interval, 1.56-2.62] with breast biopsy; both Pfalse-positive PSA testing were more likely to be up to date with colorectal cancer screening (AOR, 1.22 [P = .039] without prostate imaging/biopsy and AOR, 1.60 [P = .028] with imaging/biopsy). Results were stronger for individuals with more false-positive results (all P≤.005). However, women with previous false-positive colorectal cancer fecal occult blood test screening results were found to be less likely to be up to date with breast cancer screening (AOR, 0.73; Pfalse-positive breast or prostate cancer screening test were more likely to engage in future screening. Cancer 2018;124:2390-8. © 2018 American Cancer Society. © 2018 American Cancer Society.
Nordentoft, Merete; Larsen, Janne Tidselbak; Pedersen, Carsten Bøcker; Sørensen, Holger Jelling; Hollegaard, Mads Villiam; Hougaard, David Michael; Mortensen, Preben Bo; Petersen, Liselotte
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
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
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
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.
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
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,
Roman, M., E-mail: Marta.Roman@kreftregisteret.no [Cancer Registry of Norway, Oslo (Norway); Department of Women and Children’s Health, Oslo University Hospital, Oslo (Norway); Skaane, P., E-mail: PERSK@ous-hf.no [Department of Radiology, Oslo University Hospital Ullevaal, University of Oslo, Oslo (Norway); Hofvind, S., E-mail: Solveig.Hofvind@kreftregisteret.no [Cancer Registry of Norway, Oslo (Norway); Oslo and Akershus University College of Applied Sciences, Faculty of Health Science, Oslo (Norway)
Highlights: • We found variation in early performance measures across screening centres. • Radiologists’ performance may play a key role in the variability. • Potential to improve the effectiveness of breast cancer screening programs. • Continuous surveillance of screening centres and radiologists is essential. - Abstract: Background: Recall for assessment in mammographic screening entails an inevitable number of false-positive screening results. This study aimed to investigate the variation in the cumulative risk of a false positive screening result and the positive predictive value across the screening centres in the Norwegian Breast Cancer Screening Program. Methods: We studied 618,636 women aged 50–69 years who underwent 2,090,575 screening exams (1996–2010. Recall rate, positive predictive value, rate of screen-detected cancer, and the cumulative risk of a false positive screening result, without and with invasive procedures across the screening centres were calculated. Generalized linear models were used to estimate the probability of a false positive screening result and to compute the cumulative false-positive risk for up to ten biennial screening examinations. Results: The cumulative risk of a false-positive screening exam varied from 10.7% (95% CI: 9.4–12.0%) to 41.5% (95% CI: 34.1–48.9%) across screening centres, with a highest to lowest ratio of 3.9 (95% CI: 3.7–4.0). The highest to lowest ratio for the cumulative risk of undergoing an invasive procedure with a benign outcome was 4.3 (95% CI: 4.0–4.6). The positive predictive value of recall varied between 12.0% (95% CI: 11.0–12.9%) and 19.9% (95% CI: 18.3–21.5%), with a highest to lowest ratio of 1.7 (95% CI: 1.5–1.9). Conclusions: A substantial variation in the performance measures across the screening centres in the Norwegian Breast Cancer Screening Program was identified, despite of similar administration, procedures, and quality assurance requirements. Differences in the
Roman, M.; Skaane, P.; Hofvind, S.
Highlights: • We found variation in early performance measures across screening centres. • Radiologists’ performance may play a key role in the variability. • Potential to improve the effectiveness of breast cancer screening programs. • Continuous surveillance of screening centres and radiologists is essential. - Abstract: Background: Recall for assessment in mammographic screening entails an inevitable number of false-positive screening results. This study aimed to investigate the variation in the cumulative risk of a false positive screening result and the positive predictive value across the screening centres in the Norwegian Breast Cancer Screening Program. Methods: We studied 618,636 women aged 50–69 years who underwent 2,090,575 screening exams (1996–2010. Recall rate, positive predictive value, rate of screen-detected cancer, and the cumulative risk of a false positive screening result, without and with invasive procedures across the screening centres were calculated. Generalized linear models were used to estimate the probability of a false positive screening result and to compute the cumulative false-positive risk for up to ten biennial screening examinations. Results: The cumulative risk of a false-positive screening exam varied from 10.7% (95% CI: 9.4–12.0%) to 41.5% (95% CI: 34.1–48.9%) across screening centres, with a highest to lowest ratio of 3.9 (95% CI: 3.7–4.0). The highest to lowest ratio for the cumulative risk of undergoing an invasive procedure with a benign outcome was 4.3 (95% CI: 4.0–4.6). The positive predictive value of recall varied between 12.0% (95% CI: 11.0–12.9%) and 19.9% (95% CI: 18.3–21.5%), with a highest to lowest ratio of 1.7 (95% CI: 1.5–1.9). Conclusions: A substantial variation in the performance measures across the screening centres in the Norwegian Breast Cancer Screening Program was identified, despite of similar administration, procedures, and quality assurance requirements. Differences in the
Rebolj, Matejka; Pribac, Igor; Lynge, Elsebeth
Based on data from randomised controlled trials (RCT) on primary cervical screening, it has been reported that the problem of more frequent false-positive tests in Human Papillomavirus (HPV) DNA screening compared to cytology could be overcome. However, these reports predominantly operated...
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.
Javanmard, M.; Davis, R. W.
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.
Celebi, Miray Yilmaz; Alan, Serdar; Kahvecioglu, Dilek; Cakir, Ufuk; Yildiz, Duran; Erdeve, Omer; Arsan, Saadet; Atasay, Begum
This study aims to evaluate the effect of the prophylactic continuous positive airway pressure (CPAP) administration in the delivery room to newborns who were delivered by elective cesarean section (CS). Inborn infants with gestational age between 34(0/7) to 38(6/7) and born by elective CS were prospectively randomized to receive either prophylactic CPAP for 20 minutes via face mask or standardized care without CPAP in the delivery room. Primary outcomes were the incidence of transient tachypnea of the newborn (TTN) and neonatal intensive care unit (NICU) admission due to respiratory distress. A total of 259 infants with a mean gestational age of 37.7 ± 0.8 weeks and birth weight of 3,244 ± 477 g were included. A total of 134 infants received prophylactic CPAP and 125 received control standard care. The rate of NICU admission was significantly lower in prophylactic CPAP group (p = 0.045). Although the rate of TTN was lower in the prophylactic CPAP group, the difference was not statistically significant (p = 0.059). The rate of NICU admission due to respiratory distress was significantly higher in late-preterm cohort than early-term cohort (p CPAP administration decreases the rate of NICU admission without any side effect in late-preterm and early-term infants delivered by elective CS. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
Dajak, Slavica; Stefanović, Vedran; Capkun, Vesna
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.
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
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...
Armour, Christine M; Brebner, Alison; Watkins, David; Geraghty, Michael T; Chan, Alicia; Rosenblatt, David S
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.
Frederiksen, B L; Jørgensen, Torben; Brasso, K
Colorectal cancer (CRC) screening with faecal occult blood test (FOBT) has the potential to reduce the incidence and mortality of CRC. Screening uptake is known to be inferior in people with low socioeconomic position (SEP) when compared with those with high position; however, the results of most...... information on education, employment, and income to encompass different but related aspects of socioeconomic stratification. Also, the impact of ethnicity and cohabiting status was analysed.......Colorectal cancer (CRC) screening with faecal occult blood test (FOBT) has the potential to reduce the incidence and mortality of CRC. Screening uptake is known to be inferior in people with low socioeconomic position (SEP) when compared with those with high position; however, the results of most...... previous studies have limited value because they are based on recall or area-based measures of socioeconomic position, and might thus be subject to selective participation and misclassification. In this study we investigated differences in CRC screening participation using register-based individual...
Abouk, Rahi; Grosse, Scott D; Ailes, Elizabeth C; Oster, Matthew E
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
Parents of newborns and infants are especially open to learning, and many new parents are actively seeking information. What do professionals teach them? How do they teach them? "Pathways" is an educator's guide to educating and supporting new parents. "Pathways" guides professionals in developing an approach to parent…
Djeddi, Djamal; Cantin, Danny; Samson, Nathalie; Praud, Jean-Paul
Background Using esophageal pHmetry, nasal CPAP (nCPAP) has been shown to decrease acid gastroesophageal reflux (GER) in adult humans. Although both GER (mainly non-acid) and nCPAP use are very frequent in newborns, the effect of nCPAP on GER in early life is unknown. Having recently shown that the newborn lamb is a unique model for studying neonatal GER, our main objective was to assess the effect of nCPAP on GER in newborn lambs. Methods Eight newborn lambs, aged 2–3 days, were studied. Continuous esophageal pH-Impedance monitoring and polysomnography were performed for six hours during both spontaneous breathing and nCPAP application at 6 cmH2O (nCPAP6), in a randomized order. Results were compared in the two experimental conditions, as well as without CPAP during the following 6 hours. Results i) nCPAP6 virtually abolished GER [mean ±SD reflux number for 6 h = 9.1±8.6 without nCPAP6 vs. 0.6±1 with nCPAP6, PCPAP are needed to confirm this result in human infants. PMID:25226514
Rodríguez-Moldes, B; Carbajo, A J; Sánchez, B; Fernández, M; Garí, M; Fernández, M C; Álvarez, J; García, A; Cela, E
The main aim of the study was to assess the effects of the recommended preventive program in the population affected with Sickle Cell Disease in Primary Care. The program included, antibiotic prophylaxis, immunizations and health education, following the introduction of universal neonatal screening program for Sickle Cell Disease in the Community of Madrid. A cross-sectional observational study was performed with retrospective data collected from a cohort of newborns with Sickle Cell Disease diagnosed by neonatal screening test in the Community of Madrid. From the data obtained from a sample of 20 patients, it was found that 95% had been diagnosed by the newborn screening test performed between 5 and 13 days of life. The mean age was 39 months when the study was conducted. During follow-up, from Primary Care Paediatric clinic, it was observed that the compliance for antibiotic prophylaxis was 90%, and the coverage for the official vaccination schedule was 85%. Specific vaccine coverage as a risk population was highly variable (85% for pneumococcal 23V, 50% for influenza, and 15% for hepatitis A). Health education only reached one in every four families. Acceptable compliance with antibiotic prophylaxis was observed during the follow-up of patients with sickle cell disease in Primary Care, but a low coverage of routine immunization, as well as specific immunizations. Coverage of health education was very low. Improving these parameters would require greater coordination and involvement of Primary Care Professionals so that these patients were followed up appropriately, and could be translated into a reduction of disease complications and an improvement in the quality of life of these patients. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.
Schmidt, P; Leveque, M; Danvin, J-B; Leroux, B; Chays, A
To report a Universal Newborn Hearing Screening (UNHS) program developed in the Champagne-Ardennes region in 2004-2005. A team of ENT specialists and pediatricians set up a UNHS program designed to reduce the age of diagnosis and care of bilateral congenital deafness. The program was mainly based on automated acoustic otoacoustic emissions and a strict follow-up by the Regional Neonatal Screening Center. In 2004 and 2005, 29,944 neonates from 30,518 births were screened (98.11%). Of the neonates screened, 409 (1.38%) failed the test and were referred. The average retest delay was 2 weeks. Eleven were lost to follow-up, 371 (94%) had a successful second test on one or both ears, 27 (7%) failed the test a second time and had a diagnosis of ABR. Twenty-four cases of bilateral deafness were identified early, 14 of which had no risk factors. One of the children lost to follow-up was actually deaf, which was diagnosed at 18 months of age. Since the beginning of the UNHS program, the average age of diagnosis was lowered to less than 3 months. Our experience tends to demonstrate that UNHS is possible and the program allows an early diagnosis of bilateral congenital hearing loss.
Dewez, Juan Emmanuel; van den Broek, Nynke
Severe respiratory distress is a serious complication common to the three major causes of neonatal mortality and morbidity (prematurity, intra-partum-related hypoxia and infections). In low- and middle-income countries (LMICs), 20% of babies presenting with severe respiratory distress die.Continuous positive airway pressure (CPAP), is an effective intervention for respiratory distress in newborns and widely used in high-income countries. Following the development of simple, safe and relatively inexpensive CPAP devices, there is potential for large-scale implementation in the developing world.In this article, we describe existing CPAP systems and present a review of the current literature examining the effectiveness of CPAP compared to standard care (oxygen) in newborns with respiratory distress. We also discuss the evidence gap which needs to be addressed prior to its integration into health systems in LMICs. © The Author(s) 2016.
Full Text Available BACKGROUND: Using esophageal pHmetry, nasal CPAP (nCPAP has been shown to decrease acid gastroesophageal reflux (GER in adult humans. Although both GER (mainly non-acid and nCPAP use are very frequent in newborns, the effect of nCPAP on GER in early life is unknown. Having recently shown that the newborn lamb is a unique model for studying neonatal GER, our main objective was to assess the effect of nCPAP on GER in newborn lambs. METHODS: Eight newborn lambs, aged 2-3 days, were studied. Continuous esophageal pH-Impedance monitoring and polysomnography were performed for six hours during both spontaneous breathing and nCPAP application at 6 cmH2O (nCPAP(6, in a randomized order. Results were compared in the two experimental conditions, as well as without CPAP during the following 6 hours. RESULTS: i nCPAP(6 virtually abolished GER [mean ± SD reflux number for 6 h = 9.1 ± 8.6 without nCPAP(6 vs. 0.6 ± 1 with nCPAP(6, P<0.05]; ii GER number was also reduced during the 6 h-period following nCPAP(6 application (18 ± 16 without nCPAP(6 vs. 7 ± 8.1 with nCPAP(6, P<0.05; iii nCPAP(6 decreased the depth and duration of lower esophageal sphincter relaxation. CONCLUSIONS: nCPAP inhibits GER in the newborn lamb. Further clinical studies using different levels of nasal CPAP are needed to confirm this result in human infants.
Aithal, Sreedevi; Aithal, Venkatesh; Kei, Joseph; Driscoll, Carlie
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
Koelewijn, J M; Vrijkotte, T G M; van der Schoot, C E; Bonsel, G J; de Haas, M
Hemolytic disease of the fetus and newborn (HDFN) is a severe disease, resulting from maternal red cell (RBC) alloantibodies directed against fetal RBCs. The effect of a first-trimester antibody screening program on the timely detection of HDFN caused by antibodies other than anti-D was evaluated. Nationwide, all women (1,002 in 305,000 consecutive pregnancies during 18 months) with alloantibodies other than anti-D, detected by a first-trimester antibody screen, were included in a prospective index-cohort study. In a parallel-coverage validation study, patients with HDFN caused by antibodies other than anti-D, that were missed by the screening program, were retrospectively identified. The prevalence of positive antibody screens at first-trimester screening was 1,232 in 100,000; the prevalence of alloantibodies other than anti-D was 328 in 100,000, of which 191 of 100,000 implied a risk for occurrence of HDFN because the father carried the antigen. Overall, severe HDFN, requiring intrauterine or postnatal (exchange) transfusions, occurred in 3.7 percent of fetuses at risk: for anti-K in 11.6 percent; anti-c in 8.5 percent; anti-E in 1.1 percent; Rh antibodies other than anti-c, anti-D, or anti-E in 3.8 percent; and for antibodies other than Rh antibodies or anti-K, in none of the fetuses at risk. All affected children, where antibodies were detected, were promptly treated and healthy at the age of 1 year. The coverage validation study showed a sensitivity of the screening program of 75 percent. Five of 8 missed cases were caused by anti-c, with delay-induced permanent damage in at least 1. First-trimester screening enables timely treatment of HDFN caused by antibodies other than anti-D, however, with a sensitivity of only 75 percent. A second screening at Week 30 of c- women will enhance the screening program. Severe HDFN, caused by antibodies other than anti-D, is associated with anti-K, anti-c, and to a lesser extent with other Rh-alloantibodies.
Apr 3, 2006 ... Department of Physiology, Obafemi Awolowo College of Health Sciences, Olabisi Onabanjo University Teaching. Hospital ... screening volunteer donors by initial criteria alone does not fully eliminate all HIV positive donors. The prevalence of HIV ... HIV test criteria alone to qualify for blood donation in the.
Priscila Karla Santana Pereira
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
Joshua L. Fenderson
Full Text Available The aim of this paper is to report the first case of atomoxetine leading to false-positive urine drug screen. An otherwise healthy 27-year-old female with a history of attention deficit hyperactivity disorder (ADHD treated with atomoxetine had an acute onset tonic-clonic seizure. On arrival to the hospital, a urine toxicological drug screen with immunochemical cloned enzyme donor immunoassay (CEDIA was performed. Results were positive for amphetamines; however, the presence of these substances could not be confirmed with urine gas chromatography-mass spectrometry (GC-MS. She denied any illicit drug use, herbal medications, or supplements, and her other prescription medications have not been previously known to cause a false-positive result for amphetamines. While stimulant treatments for ADHD could certainly result in a positive result on urine screen for amphetamines, there have been no reports of false-positive results for amphetamines secondary to patients using atomoxetine. We implicate atomoxetine, and/or its metabolites, as a compound or compounds which may interfere with urine drug immunoassays leading to false-positive results for amphetamines CEDIA assays.
Xin Fan MD
Full Text Available Background. A newborn screening program (NSP for congenital hypothyroidism (CH was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH or transient CH (TCH after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.
Bain, Lisa Charo; Dudley, R Adams; Gould, Jeffrey B; Lee, Henry C
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.
Nancy S. Green MD
Full Text Available Sickle cell disease (SCD is associated with high mortality for children under 5 years of age in sub-Saharan Africa. Newborn sickle screening program and enhanced capacity for SCD treatment are under development to reduce disease burden in Uganda and elsewhere in the region. Based on an international stakeholder meeting and a family-directed conference on SCD in Kampala in 2015, and interviews with parents, multinational experts, and other key informants, we describe health care, community, and family perspectives in support of these initiatives. Key stakeholder meetings, discussions, and interviews were held to understand perspectives of public health and multinational leadership, patients and families, as well as national progress, resource needs, medical and social barriers to program success, and resources leveraged from HIV/AIDS. Partnering with program leadership, professionals, patients and families, multinational stakeholders, and leveraging resources from existing programs are needed for building successful programs in Uganda and elsewhere in sub-Saharan Africa.
Aksglaede, Lise; Christensen, Mette; Olesen, Jes
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...
Lee, Hencher Han-Chih; Mak, Chloe Miu; Poon, Grace Wing-Kit; Wong, Kar-Yin; Lam, Ching-Wan
To evaluate the cost-benefit of implementing an expanded newborn screening programme for hyperphenylalaninemias due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency in Hong Kong. Regional public hospitals in Hong Kong providing care for cases of inborn errors of metabolism. Implementational and operational costs of a new expanded mass spectrometry-based newborn screening programme were estimated. Data on various medical expenditures for the mild and severe phenotypic subtypes were gathered from a case cohort diagnosed with PTPS deficiency from 2001 to 2009. Local incidence from a previously published study was used. Implementation and operational costs of an expanded newborn screening programme in Hong Kong were estimated at HKD 10,473,848 (USD 1,342,801) annually. Assuming a birthrate of 50,000 per year and an incidence of 1 in 29,542 live births, the medical costs and adjusted loss of workforce per year would be HKD 20,773,207 (USD 2,663,232). Overall the annual savings from implementing the programme would be HKD 9,632,750 (USD 1,234,968). Our estimates show that implementation of an expanded newborn screening programme in Hong Kong is cost-effective, with a significant annual saving for public expenditure. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.
Koelewijn, J. M.; Vrijkotte, T. G. M.; van der Schoot, C. E.; Bonsel, G. J.; de Haas, M.
BACKGROUND: Hemolytic disease of the fetus and newborn (HDFN) is a severe disease, resulting from maternal red cell (RBC) alloantibodies directed against fetal RBCs. The effect of a first-trimester antibody screening program on the timely detection of HDFN caused by antibodies other than anti-D was
Lui, Kung-Jong; Chang, Kuang-Chao
In studies of screening accuracy, we may commonly encounter the data in which a confirmatory procedure is administered to only those subjects with screen positives for ethical concerns. We focus our discussion on simultaneously testing equality of sensitivity and specificity between two binary screening tests when only subjects with screen positives receive the confirmatory procedure. We develop four asymptotic test procedures and one exact test procedure. We derive sample size calculation formula for a desired power of detecting a difference at a given nominal [Formula: see text]-level. We employ Monte Carlo simulation to evaluate the performance of these test procedures and the accuracy of the sample size calculation formula developed here in a variety of situations. Finally, we use the data obtained from a study of the prostate-specific-antigen test and digital rectal examination test on 949 Black men to illustrate the practical use of these test procedures and the sample size calculation formula.
Cutler, Jodi; Lenzi, Giovanni; Berrettini, Stefano; Martini, Alessandro; Martinelli, Stefano
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.
Brown, Amy; Crowe, Louise; Beauchamp, Miriam H; Anderson, Vicki; Boneh, Avihu
Glutaric aciduria type I (GA-I) is an inherited metabolic disorder that may lead to severe motor disorder and cognitive impairment. GA-I is now included in the newborn screening programme in many countries as early detection allows for prompt treatment and effectively reduces the risk of poor developmental outcome. Information regarding the long-term neurodevelopmental outcome of children with GA-I treated early is sparse.We recruited children with a confirmed diagnosis of GA-I diagnosed via newborn screening, treated in our centre and >3 years of age (n = 6). Children were assessed at two time points using a comprehensive neuropsychological test battery. Four of these had been the subject of a previous report. All participants were male, 3-6 years at the initial assessment and 6-12 years of age at the follow-up assessment.Fine motor skills were below average in all patients. Speech, which was affected in all four patients reported previously, improved following speech therapy. IQ scores remained generally stable within the normal range. Executive functioning was average to high average in four patients. Behaviour, as assessed through parental questionnaires, was problematic in two patients. Compounding factors included child neglect, family history of autism and multiple admissions to hospital (n = 1 in each).GA-I affects fine motor skills and speech, regardless of early treatment, but not IQ scores. Patients with GA-I should be referred for assessment and appropriate early intervention. Further research is needed to correlate specific neuropsychological deficits with neuroimaging.
Wang, Chunyan; Zhu, Hongbin; Zhang, Wenyan; Song, Fengrui; Liu, Zhiqiang; Liu, Shuying
The quantitative analysis of amino acids (AAs) in single dry blood spot (DBS) samples is an important issue for metabolic diseases as a second-tier test in newborn screening. An analytical method for quantifying underivatized AAs in DBS was developed by using liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS). The sample preparation in this method is simple and ion-pairing agent is not used in the mobile phase that could avoid ion suppression, which happens in mass spectrometry and avoids damage to the column. Through chromatographic separation, some isomeric compounds could be identified and quantified, which cannot be solved through only appropriate multiple reactions monitoring transitions by MS/MS. The concentrations of the different AAs were determined using non-deuterated internal standard. All calibration curves showed excellent linearity within test ranges. For most of the amino acids the accuracy of extraction recovery was between 85.3 and 115 %, and the precision of relative standard deviation was <7.0 %. The 35 AAs could be identified in DBS specimens by the developed LC-MS/MS method in 17-19 min, and eventually 24 AAs in DBS were quantified. The results of the present study prove that this method as a second-tier test in newborn screening for metabolic diseases could be performed by the quantification of free AAs in DBS using the LC-MS/MS method. The assay has advantages of high sensitive, specific, and inexpensive merits because non-deuterated internal standard and acetic acid instead of ion-pairing agent in mobile phase are used in this protocol.
Full Text Available Ting Huang,1,* Yunfeng Cao,1,* Jia Zeng,1 Jun Dong,2 Xiaoyu Sun,2 Jianxing Chen,1 Peng Gao2,3 1Key Laboratory of Contraceptives and Devices Research (NPFPC, Shanghai Engineer and Technology Research Center of Reproductive Health Drug and Devices, Shanghai Institute of Planned Parenthood Research, Shanghai, 2Clinical Laboratory, Dalian Sixth People’s Hospital, 3CASKey Laboratory of Separation Science for Analytical Chemistry, Dalian Institute of Chemical Physics, Chinese Academy of Sciences, Dalian, People’s Republic of China *These authors contributed equally to this work Objective: Newborn screening (NBS helps in the early detection of inborn errors of metabolism (IEM. The most effective NBS strategy prevailing in clinics is tandem mass spectrometry (MS/MS analysis using dried blood spot (DBS samples. Taking lung cancer (LC as an example, this study tried to explore if this technique could be of any assistance for the discovery of tumor metabolite markers.Materials and methods: Twenty-six acylcarnitines and 23 amino acids, which are commonly used in IEM screening, were quantified using DBS samples from 222 LC patients, 118 benign lung disease (LD patients, and 96 healthy volunteers (CONT. Forty-four calculated ratios based on the abovementioned metabolites were also included using MS/MS quantification results.Results: This pilot study led to the findings of 65 significantly changed amino acids, acylcarnitines, and some of their ratios for the LC, LD, and CONT groups. Among the differential parameters, 12 items showed reverse changing trends between the LC and LD groups compared to the CONT group. Regression analysis demonstrated that six of them – Arg, Pro, C10:1, Arg/Orn, Cit/Arg, and C5-OH/C0 – could be used to diagnose LC with a sensitivity of 91.3% and a specificity of 92.7%.Conclusion: This study demonstrated the DBS-based MS/MS strategy was a promising tool for the discovery of tumor metabolite markers. Remarkably, this MS
Wong, Lye-Yeng; Espinoza, Francisca; Alvarez, Karen Mojica; Molter, Dave; Saunders, James E
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.
Ma, Wan-Li; Yun, Sehun; Bell, Erin M; Druschel, Charlotte M; Caggana, Michele; Aldous, Kenneth M; Buck Louis, Germaine M; Kannan, Kurunthachalam
Polybrominated diphenyl ethers (PBDEs) are ubiquitous environmental pollutants, and on a global basis, North American populations are exposed to the highest doses of PBDEs. In response to the exponential increase in human exposure to PBDEs during the late 1990s, some PBDE formulations were phased out from production in the early 2000s. The effectiveness of the phase-out of commercial penta-BDE and octa-BDE mixtures in 2004 in the U.S. on human exposure levels is not known. Dried blood spots (DBSs), collected for the newborn screening program (NSP) in the U.S., are a valuable resource for the elucidation of trends in exposure to environmental pollutants in newborns. In this study, seven PBDE congeners were determined by gas chromatography-high resolution mass spectrometry (GC-HRMS) in archived DBS samples (in total, 51 blood spot composites from 1224 newborns) collected from newborns in New York State (NYS) from 1997 to 2011. The most frequently detected PBDE congener was BDE-47, with a detection rate (DR) of 86%, followed by BDE-99 (DR: 45%) and BDE-100 (DR: 43%). The mean concentrations determined during 1997 through 2011 in the whole blood of newborns were 0.128, 0.040, and 0.012 ng/mL for BDE-47, -99, and -100, respectively. A significant correlation was found among the concentrations of three major congeners (p < 0.001). PBDE concentrations were similar during 1997 through 2002 and, thereafter, decreased significantly, which was similar to the trends observed for perfluorinated compounds (PFCs) in DBS samples. Occurrence of PBDEs in the whole blood of newborns confirms that these compounds do cross the placental barrier.
Montgomery, Ann E; Dichter, Melissa E; Thomasson, Arwin M; Roberts, Christopher B
The Veterans Health Administration seeks to reduce homelessness among Veterans by identifying, and providing prevention and supportive services to, patients with housing concerns. The objectives of this study were to assess the proportion of Veterans Health Administration patients who received homeless or social work services within 6 months of a positive screen for homelessness or risk in the Veterans Health Administration and the demographic and clinical characteristics that predicted services utilization. Data were from a cohort of 27,403 Veteran outpatients who screened positive for homelessness or risk between November 1, 2012 and January 31, 2013. During 2013, AORs were calculated using a mixed-effects logistic regression to estimate the likelihood of patients' receipt of VHA homeless or social work services based on demographic and clinical characteristics. The majority of patients received services within 6 months post-screening; predictors of services utilization varied by gender. Among women, diagnosis of drug abuse and psychosis predicted receipt of services, being unmarried increased the odds of using services among those screening positive for homelessness, and a diagnosis of post-traumatic stress disorder increased the odds of receiving services for at-risk women. Among men, being younger, unmarried, not service-connected/Medicaid-eligible, and having a medical or behavioral health condition predicted receipt of services. Receipt of housing support services among Veterans post-homelessness screening differs by patient demographic and clinical characteristics. Future research should investigate the role that primary and secondary prevention interventions play in Veterans' resolution of risk for homelessness and experience of homelessness. Published by Elsevier Inc.
Raz Somech; Amos Etzioni
Quantification of the T cell receptor excision circles (TRECs) has recently emerged as a useful non-invasive clinical and research tool to investigate thymic activity. It allows the identification of T cell production by the thymus. Quantification of TREC copies has recently been implemented as the preferred test to screen neonates with severe combined immunodeficiency (SCID) or significant lymphopenia. Neonatal genetic screening for SCID is highly important in countries with high rates of co...
Caroline Antonelli Mendes
Full Text Available ABSTRACT Purpose: to assess the knowledge of mothers about the heel prick test, develop contents on this test to make it available on the "Babies’ Portal" website, evaluate and validate the informative material developed. Methods: this study was conducted in three stages, that is, the first stage which is about a descriptive study involving 105 mothers of newborn children before performing the neonatal screening "Heel Prick Test", the second one consisting in the development of the website "Babies’ Portal", and the third stage, the evaluation and validation of this material carried out by 20 parents of children between zero and 36 months old, who underwent the neonatal screening Heel Prick Test by accessing the website “Babies’ Portal”. Results: although the interviewed mothers knew that their children had the right to be tested, they showed no knowledge of the diseases that can be prevented, time of diagnosis, nor the consequences arising from the lack of early diagnosis and treatment. The website creation and validation gathered basic information about the Heel Prick Test, and the participants regarded the content from satisfactory to excellent. Conclusion: it is necessary that families know not only about the procedures their children will undergo, but also the reason they are performed and the consequences of failing in doing so.
Tao, Zheng; Li, Yun; Hou, Zheng; Cheng, Lan
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.
Kellermann, K.; Heuser, L.; Bliesener, J.A.
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
Wang, Chunyan; Zhang, Wenyan; Song, Fengrui; Liu, Zhiqiang; Liu, Shuying
The analysis by electrospray-ionization tandem mass spectrometry of amino acids with butyl esterification and isotopically labeled internal standard is routine in newborn screening laboratories worldwide. In the present study, we established a direct analysis method of higher accuracy that uses a non-deuterated internal standard. The automatic sampler and the pump of an LC apparatus were used to inject sample and mobile phase to MS, but no LC column was needed. The dry blood spot (DBS) material was prepared at levels of low, medium and high concentration; the running time was 1 min. In parallel to the new procedure, we applied the established method to analyze nine amino acids on DBS of healthy newborns and phenylketonuria newborns. The newly proposed method of product ion confirmation scan along with multiple reaction monitoring resulted in a very accurate identification of each amino acid. Our innovative protocol had high sensitivity and specificity in the analysis of cases of suspected metabolic diseases.
Halstead, A C; Godolphin, W; Lockitch, G; Segal, S
We compared results of urine drug analysis with clinical data and history to test the usefulness of peripartum drug screening and to establish guidelines for optimal testing. Urine from 28 mothers and 52 babies was analysed. Drugs not suspected by history were found in 10 mothers and six babies. Results assisted in the management of neonatal withdrawal in three babies. Drugs suspected by history were not found in 11/22 mothers and 23/35 babies. About half of these results were associated with delayed urine collection. In 12/28 mothers, drugs administered in hospital could have confused interpretation of screen results. We conclude that urine drug screening without strict protocols for specimen collection is of limited usefulness for management of drug abuse in pregnancy and neonatal drug withdrawal. We favour testing of maternal urine obtained before drugs are administered in hospital. Neonatal urine, if used, should be collected in the first day of life.
Li, Pei-Chun; Chen, Wei-I; Huang, Chih-Ming; Liu, Ching-Ju; Chang, Hsiu-wen; Lin, Hung-Ching
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.
Fischer, Katharina E
Decision-making in healthcare is complex. Research on coverage decision-making has focused on comparative studies for several countries, statistical analyses for single decision-makers, the decision outcome and appraisal criteria. Accounting for decision processes extends the complexity, as they are multidimensional and process elements need to be regarded as latent constructs (composites) that are not observed directly. The objective of this study was to present a practical application of partial least square path modelling (PLS-PM) to evaluate how it offers a method for empirical analysis of decision-making in healthcare. Empirical approaches that applied PLS-PM to decision-making in healthcare were identified through a systematic literature search. PLS-PM was used as an estimation technique for a structural equation model that specified hypotheses between the components of decision processes and the reasonableness of decision-making in terms of medical, economic and other ethical criteria. The model was estimated for a sample of 55 coverage decisions on the extension of newborn screening programmes in Europe. Results were evaluated by standard reliability and validity measures for PLS-PM. After modification by dropping two indicators that showed poor measures in the measurement models' quality assessment and were not meaningful for newborn screening, the structural equation model estimation produced plausible results. The presence of three influences was supported: the links between both stakeholder participation or transparency and the reasonableness of decision-making; and the effect of transparency on the degree of scientific rigour of assessment. Reliable and valid measurement models were obtained to describe the composites of 'transparency', 'participation', 'scientific rigour' and 'reasonableness'. The structural equation model was among the first applications of PLS-PM to coverage decision-making. It allowed testing of hypotheses in situations where there
Fischer Katharina E
Full Text Available Abstract Background Decision-making in healthcare is complex. Research on coverage decision-making has focused on comparative studies for several countries, statistical analyses for single decision-makers, the decision outcome and appraisal criteria. Accounting for decision processes extends the complexity, as they are multidimensional and process elements need to be regarded as latent constructs (composites that are not observed directly. The objective of this study was to present a practical application of partial least square path modelling (PLS-PM to evaluate how it offers a method for empirical analysis of decision-making in healthcare. Methods Empirical approaches that applied PLS-PM to decision-making in healthcare were identified through a systematic literature search. PLS-PM was used as an estimation technique for a structural equation model that specified hypotheses between the components of decision processes and the reasonableness of decision-making in terms of medical, economic and other ethical criteria. The model was estimated for a sample of 55 coverage decisions on the extension of newborn screening programmes in Europe. Results were evaluated by standard reliability and validity measures for PLS-PM. Results After modification by dropping two indicators that showed poor measures in the measurement models’ quality assessment and were not meaningful for newborn screening, the structural equation model estimation produced plausible results. The presence of three influences was supported: the links between both stakeholder participation or transparency and the reasonableness of decision-making; and the effect of transparency on the degree of scientific rigour of assessment. Reliable and valid measurement models were obtained to describe the composites of ‘transparency’, ‘participation’, ‘scientific rigour’ and ‘reasonableness’. Conclusions The structural equation model was among the first applications of PLS-PM to
Full Text Available Quantification of the T cell receptor excision circles (TRECs has recently emerged as a useful non-invasive clinical and research tool to investigate thymic activity. It allows the identification of T cell production by the thymus. Quantification of TREC copies has recently been implemented as the preferred test to screen neonates with severe combined immunodeficiency (SCID or significant lymphopenia. Neonatal genetic screening for SCID is highly important in countries with high rates of consanguinous marriages, such as Israel, and can be used for early diagnosis, enabling prompt therapeutic intervention that will save lives and improve the outcome of these patients. TREC measurement is also applicable in clinical settings where T cell immunity is involved, including any T cell immunodeficiencies, HIV infection, the aging process, autoimmune diseases, and immune reconstitution after bone marrow transplantation.
Hansen, L G; Høst, A; Halken, S
Screening of total IgE in 2814 cord blood samples was analysed by Phadebas IgE PRIST in 2 1-year birth cohorts (1983-1984 and 1985-1986) in Denmark (n = 1189 + 1625). 48.6% of the sera contained less IgE than the detection limit 0.1 kU/l. Cord blood IgE values greater than or equal to 0.5 kU/l we...
Matern, Dietrich; He, Miao; Berry, Susan A
but asymptomatic. METHODS: We report 8 additional patients identified by prospective newborn screening using tandem mass spectrometry. RESULTS: Molecular genetic analysis performed for 3 of these patients revealed that all are homozygous for an 1165A>G mutation that causes skipping of exon 10 of the SBCAD gene....... Although there was no obvious consanguinity, all patients belong to the Hmong, an ancient ethnic group that originated in China and constitutes only 0.8% and 0.6% of the Minnesota and Wisconsin population, respectively. Dietary treatment was initiated in the neonatal period. Except for 1 patient who...... developed mild muscle hypotonia, all patients remain asymptomatic at ages ranging from 3 to 14 months of age. CONCLUSIONS: These cases suggest that SBCAD deficiency is another inborn error of metabolism detectable by newborn screening using tandem mass spectrometry. The continued efficacy of long...
Barends, M; Pitt, J; Morrissy, S; Tzanakos, N; Boneh, A
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.
Kim, Jo-Il; Noh, Joo-Yoon; Kim, Mira; Park, Jong-Min; Song, Hyun-Woo; Kang, Min-Jung; Pyun, Jae-Chul
Newborn screening for diagnosis of phenylketonuria, homocystinuria, and maple syrup urine disease have been conducted by analyzing the concentration of target amino acids using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-ToF MS) based on parylene-matrix chip. Parylene-matrix chip was applied to MALDI-ToF MS analysis reducing the matrix peaks significantly at low mass-to-charge ratio range (m/z 0.98) and the LODs were ranging from 9.0 to 22.9 μg/mL. Effect of proteins in serum was estimated by comparing MALDI-ToF mass spectra of amino acids-spiked serum before and after the methanol extraction. Interference of other amino acids on analysis of target analyte was determined to be insignificant. From these results, MALDI-ToF MS based on parylene-matrix chip could be applicable to medical diagnosis of neonatal metabolic disorders. Copyright © 2017 Elsevier Inc. All rights reserved.
Spliethoff, Henry M; Tao, Lin; Shaver, Shannon M; Aldous, Kenneth M; Pass, Kenneth A; Kannan, Kurunthachalam; Eadon, George A
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.
Full Text Available Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzyme, transmembrane transporter, or similar protein, which then results in blockage of the corresponding metabolic pathway. Taken individually, inborn errors of metabolism are rare. However, as a group these diseases are relatively frequent and they may account for most of neonatal mortality and need of health resources. The detection of genetic metabolic disorders should occur in a pre-symptomatic phase. Recently, the introduction of the tandem mass spectrometric methods for metabolite analysis has changed our ability to detect intermediates of metabolism in smaller samples and provides the means to detect a large number of metabolic disorders in a single analytical run. Screening panels now include a large number of disorders that may not meet all the criteria that have been used as a reference for years. The rationale behind inclusion or exclusion of a respective disorder is difficult to understand in most cases and it may impose an ethical dilemma. The current organization is an important tool of secondary preventive medicine, essential for children’s healthcare, but the strong inhomogeneity of the regional models of screening applied today create in the Italian neonatal population macroscopic differences with regards to healthcare, which is in effect mainly diversified by the newborn’s place of birth, in possible violation of the universal criterion of the equality of all citizens. Carefully weighed arguments are urgently needed since patient organizations, opinion leaders and politicians are pressing to proceed with expansion of neonatal population screening.
Mak, Chloe Miu; Lam, Ching-Wan; Chim, Stella; Siu, Tak-Shing; Ng, King-Fai; Tam, Sidney
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
Moat, Stuart J; Rees, Derek; King, Lawrence; Ifederu, Adeboye; Harvey, Katie; Hall, Kate; Lloyd, Geoff; Morrell, Christine; Hillier, Sharon
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.
Marcilene Rezende Silva
Full Text Available OBJECTIVE: To characterize alpha-chain variant hemoglobins with electric mobility similar to that of hemoglobin S in a newborn screening program. METHODS: βS allele and alpha-thalassemia deletions were investigated in 14 children who had undefined hemoglobin at birth and an electrophoretic profile similar to that of hemoglobin S when they were six months old. Gene sequencing and restriction enzymes (DdeI, BsaJI, NlaIV, Bsu36I and TaqI were used to identify hemoglobins. Clinical and hematological data were obtained from children who attended scheduled medical visits. RESULTS: The following alpha chain variants were found: seven children with hemoglobin Hasharon [alpha2 47(CE5 Asp>His, HbA2:c.142G>C], all associated with alpha-thalassemia, five with hemoglobin Ottawa [alpha1 15(A13 Gly>Arg, HBA1:c.46G>C], one with hemoglobin St Luke's [alpha1 95(G2 Pro>Arg, HBA1:c.287C>G] and another one with hemoglobin Etobicoke [alpha212 84(F5 Ser>Arg, HBA212:c.255C>G]. Two associations with hemoglobin S were found: one with hemoglobin Ottawa and one with hemoglobin St Luke's. The mutation underlying hemoglobin Etobicoke was located in a hybrid α212 allele in one child. There was no evidence of clinically relevant hemoglobins detected in this study. CONCLUSION: Apparently these are the first cases of hemoglobin Ottawa, St Luke's, Etobicoke and the α212 gene described in Brazil. The hemoglobins detected in this study may lead to false diagnosis of sickle cell trait or sickle cell disease when only isoelectric focusing is used in neonatal screening. Additional tests are necessary for the correct identification of hemoglobin variants.
Silva, Marcilene Rezende; Sendin, Shimene Mascarenhas; Araujo, Isabela Couto de Oliveira; Pimentel, Fernanda Silva; Viana, Marcos Borato
To characterize alpha-chain variant hemoglobins with electric mobility similar to that of hemoglobin S in a newborn screening program. β(S) allele and alpha-thalassemia deletions were investigated in 14 children who had undefined hemoglobin at birth and an electrophoretic profile similar to that of hemoglobin S when they were six months old. Gene sequencing and restriction enzymes (DdeI, BsaJI, NlaIV, Bsu36I and TaqI) were used to identify hemoglobins. Clinical and hematological data were obtained from children who attended scheduled medical visits. THE FOLLOWING ALPHA CHAIN VARIANTS WERE FOUND: seven children with hemoglobin Hasharon [alpha2 47(CE5) Asp>His, HbA2:c.142G>C], all associated with alpha-thalassemia, five with hemoglobin Ottawa [alpha1 15(A13) Gly>Arg, HBA1:c.46G>C], one with hemoglobin St Luke's [alpha1 95(G2) Pro>Arg, HBA1:c.287C>G] and another one with hemoglobin Etobicoke [alpha212 84(F5) Ser>Arg, HBA212:c.255C>G]. Two associations with hemoglobin S were found: one with hemoglobin Ottawa and one with hemoglobin St Luke's. The mutation underlying hemoglobin Etobicoke was located in a hybrid α212 allele in one child. There was no evidence of clinically relevant hemoglobins detected in this study. Apparently these are the first cases of hemoglobin Ottawa, St Luke's, Etobicoke and the α212 gene described in Brazil. The hemoglobins detected in this study may lead to false diagnosis of sickle cell trait or sickle cell disease when only isoelectric focusing is used in neonatal screening. Additional tests are necessary for the correct identification of hemoglobin variants.
Chamoles, Néstor A; Blanco, Mariana; Gaggioli, Daniela; Casentini, Carina
Tay-Sachs disease (TSD), Sandhoff disease (SD) and variants are caused by deficient activity of the lysosomal enzymes hexosaminidase A (HA) and total hexosaminidase (TH) (hexosaminidase A plus B), respectively. For diagnosis, these enzymes are usually measured in plasma or extracts of leukocytes. We describe methods for the assay of hexosaminidase A and total hexosaminidase activities in dried blood spots (DBSs) on filter paper. We studied 163 healthy controls, 9 Tay-Sachs patients, 4 Sandhoff patients, 18 obligate carriers and the newborn-screening cards from two patients with Tay-Sachs and one patient with Sandhoff disease. To tubes containing a 3-mm-diameter blood spot, we added elution liquid and substrate solution. After incubation at 37 degrees C, the amount of hydrolyzed product was compared with a calibrator to allow the quantification of enzyme activity. The described methodology is useful to distinguish patients with Tay-Sachs disease or Sandhoff disease from carriers and controls using samples that are sufficiently stable to be transported to the testing laboratory by mail. The diagnosis of both diseases from a newborn-screening card (NSC) was clearly demonstrated, even after storage for up to 38 months at room temperature. The newborn-screening card has been added to the biological materials that allow the identification of patients with Tay-Sachs disease and Sandhoff disease.
DePasquale, John M; Freeman, Karen; Amin, Minal M; Park, Sohyun; Rivers, Samantha; Hopkins, Richard; Cannon, Michael J; Dy, Bonifacio; Dollard, Sheila C
The objectives of this study are (1) to design an accurate method for linking newborn screening (NBS) and state birth certificate databases to create a de-identified study database; (2) To assess maternal cytomegalovirus (CMV) seroprevalence by measuring CMV IgG in newborn dried blood spots; (3) To assess congenital CMV infection among newborns and possible association with preterm birth. NBS and birth databases were linked and patient records were de-identified. A stratified random sample of records based on gestational age was selected and used to retrieve blood spots from the state NBS laboratory. Serum containing maternal antibodies was eluted from blood spots and tested for the presence of CMV IgG. DNA was extracted from blood spots and tested for the presence of CMV DNA. Analyses were performed with bivariable and multivariable logistic regression models. Linkage rates and specimen collection exceeded 98% of the total possible yielding a final database with 3,101 newborn blood spots. CMV seroprevalence was 91% among Black mothers, 83% among Hispanic mothers, 59% among White mothers, and decreased with increasing amounts of education. The prevalence of CMV infection in newborns was 0.45% and did not vary significantly by gestational age. Successful methods for database linkage, newborn blood spots collection, and de-identification of records can serve as a model for future congenital exposure surveillance projects. Maternal CMV seroprevalence was strongly associated with race/ethnicity and educational level. Congenital CMV infection rates were lower than those reported by other studies and lacked statistical power to examine associations with preterm birth.
Full Text Available Background: Position of umbilicus is an important esthetic landmark and its absence or deformity may be associated with poor self-image. In abdominoplasty, the creation of a normal-looking, well shaped and sufficiently deep umbilicus on a normal position seems essential. The aim of this study was to determine the normal position of umbilicus and hence to improve the cosmetic result of exomphalos major repair. Methods: In a cross-sectional study the position of umbilicus was determined in a random sample of 200 healthy and normal neonates (107 boys and 93 girls who were born in Isfahan University hospitals from Oct. 2002 till Mar. 2003, with respect to the xiphisternum and pubis. Results: The normal umbilical position was 59.3 ± 5.2 percent of the way from the inferior border of xiphisternum to the superior border of the pubis in the midline and it was independent of gender and neonatal Conclusions: Recent years have witnessed major improvements in the survival of newborns with exomphalocele. The primary repair of the abdominal wall with umbilicoplasty is generally considered the treatment of choice, and the cosmetic appearance of the navel becomes increasingly important as children grow older. In repair of exomphalos major, the most esthetically pleasing result is obtained if the umbilicus is placed 59.3% of the way from the xiphisternum to the pubis. Keywords: Umbilicus, Exomphalos, Neonate, Umbilicoplasty, Isfahan
Hofvind, Solveig; Ponti, Antonio; Patnick, Julietta
To estimate the cumulative risk of a false-positive screening result in European mammographic screening programmes, and examine the rates and procedures of further assessment.......To estimate the cumulative risk of a false-positive screening result in European mammographic screening programmes, and examine the rates and procedures of further assessment....
Vanessa da Silva Neves Moreira Arakaki
Full Text Available AbstractIntroduction The high-risk newborns may require long periods of hospitalization until they reach clinical stability for hospital discharge. Avoiding babies to be in only one body position may be an effective way to cause respiratory and neuro-psycho-motor benefits, comfort and preventing pressure ulcers.Objectives This study investigated the impact of physiotherapy/nursing integration in update on body positioning of the newborn in the Neonatal Intensive Care Unit.Methods A questionnaire was administered to nurses and nursing technicians of the neonatal unit of Maternity School of UFRJ and nurses of the Advanced Course in Neonatal Nursing from the same institution. Two classes were taught by the physical therapist of the sector and the questions answered before and after these lessons. It was also a brief characterization of professional participants of the study. We used the Student's t test to compare the correct answers before (PRE and after (POST the classes, considering p < 0.05.Results There was a significant increase in the degree of knowledge of nurses and nursing technicians when compared the responses before (nurses: 68.8%; technicians: 70.1% and after classes (nurses: 78.4 %; technicians: 88.9%. The nurses were less than five years of graduated (45% and little time of professional experience in neonatology (60%. Forty-seven percent of technicians had less than five years of training and 82% had less than 10 years of experience.Conclusion The use of training by the nursing staff was significant, showing the importance of multidisciplinary approach and the integration of knowledge in the search for a humanized and effective care.
Solanke Olumuyiwa A
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
Abdul Majid, Abdul Halim; Zakaria, Mohd Normani; Abdullah, Nor Azimah Chew; Hamzah, Sulaiman; Mukari, Siti Zamratol-Mai Sarah
This paper aims to investigate the effects of perceived attitude and anxiety on awareness of UNHS among caregivers in Malaysia. Using cross sectional research approach, data were collected and some 46 out of 87 questionnaires distributed to caregivers attending UNHS programs at selected public hospitals were usable for analysis (response rate of 52.8%). Partial Least Squares Method (PLS) algorithm and bootstrapping technique were employed to test the hypotheses of the study. R square value is 0.205, and it implies that exogenous latent variables explained 21% of the variance of the endogenous latent variable. This value indicates moderate and acceptable level of R-squared values. Findings from PLS structural model evaluation revealed that anxiety has no significant influence (β = -0.091, t = 0.753, p > 0.10) on caregivers' awareness; but perceived attitude has significant effect (β = -0.444, t = 3.434, p economic situation of the caregivers may have contributed to their failure to honor UNHS screening appointments as some of them may need to work to earn a living while some may perceive it a waste of time honoring such appointments. Non-significant relationship between anxiety and caregivers' awareness may be due to religious beliefs of caregivers. Limitations and suggestions were discussed. Copyright © 2017 Elsevier B.V. All rights reserved.
von Euler-Chelpin, My Catarina; Risør, Louise Madeleine; Thorsted, Brian Larsen
Screening for disease in healthy people inevitably leads to some false-positive tests in disease-free individuals. Normally, women with false-positive screening tests for breast cancer are referred back to routine screening. However, the long-term outcome for women with false-positive tests...
Kai, J; Ulph, F; Cullinan, T; Qureshi, N
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
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 ...
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.
Leung, Daniel H; Heltshe, Sonya L; Borowitz, Drucy; Gelfond, Daniel; Kloster, Margaret; Heubi, James E; Stalvey, Michael; Ramsey, Bonnie W
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
Feasibility of Pulse Oximetry Pre-discharge Screening Implementation for detecting Critical Congenital heart Lesions in newborns in a secondary level maternity hospital in the Western Cape, South Africa: The 'POPSICLe' study.
Van Niekerk, A M; Cullis, R M; Linley, L L; Zühlke, L
Early detection of critical congenital heart disease (CCHD) through newborn pulse oximetry (POx) screening is an effective strategy for reducing paediatric morbidity and mortality rates and has been adopted by much of the developed world. To document the feasibility of implementing pre-discharge POx screening in well babies born at Mowbray Maternity Hospital, a busy government hospital in Cape Town, South Africa. Parent and staff acceptance was assessed. We conducted a prospective study of predischarge POx screening in one postnatal ward, following informed parental consent. During the 4-month study period, 1 017 of 2 256 babies discharged (45.1%) were offered POx screening and 1 001 were screened; 94.0% of tests took <3 minutes to perform, 4.3% 3 - 5 minutes and 1.7% >5 minutes. Eighteen patients needed second screens and three required third screens. Only 3.1% protocol errors were made, all without consequence. The vast majority (91.6%) of nursing staff reported insufficient time to perform the study screening in addition to their daily tasks, but ~75% felt that with a full nursing staff complement and if done routinely (not part of a study), pre-discharge POx screening could be successfully instituted at our facility. Over 98% of the mothers had positive comments. Two babies failed screening and required echocardiograms; one was diagnosed with CCHD and the other with neonatal sepsis. The sensitivity and specificity were 50% (95% confidence interval (CI) 1.3 - 98.7%) and 99.9% (95% CI 99.4 - 100%), respectively, with a percentage correct of 99.8%. POx screening was supported and accepted by staff and parents. If there are no nursing staff shortages and if it is done routinely before discharge, not as part of a study, we conclude that POx screening could be implemented successfully without excessive false positives or errors, or any additional burden to cardiology services.
Mansour, Chourouk; Ouarezki, Yasmine; Jones, Jeremy; Fitch, Moira; Smith, Sarah; Mason, Avril; Donaldson, Malcolm
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.
Gramer, Gwendolyn; Haege, Gisela; Glahn, Esther M; Hoffmann, Georg F; Lindner, Martin; Burgard, Peter
Newborn screening for inborn errors of metabolism is regarded as highly successful by health professionals. Little is known about parents' perspectives on child development and social impact on families. Parents of 187 patients with metabolic disorders detected by newborn screening rated child development, perceived burdens on child and family, and future expectations on a questionnaire with standardized answers. Parental ratings were compared with standardized psychometric test results. Regression analysis was performed to identify factors associated with extent of perceived burden. In 26.2% of patients, parents perceived delays in global development and/or specific developmental domains (physical, social, intellectual, language). Parents expected normal future development in 95.7%, and an independent adult life for their child in 94.6%. Comparison with psychometric test results showed that parents of children with cognitive impairments tended to overrate their child's abilities. Mild/medium burden posed on the family (child) by the metabolic disorder was stated by 56.1% (48.9%) of parents, severe/very severe burden by 19.3% (8.6%). One third of families reported financial burden due to the metabolic disorder. Dietary treatment and diagnoses with risk for metabolic decompensation despite treatment were associated with higher perceived burden for the family. Disorders rated as potentially very burdensome by experts were not rated accordingly by parents, demonstrating different perspectives of professionals and parents. Although newborn screening leads to favourable physical and cognitive outcome, living with a metabolic disorder may cause considerable stress on patients and families, emphasizing the need for comprehensive multidisciplinary care including psychological and social support.
... don't have enough biotinidase, an enzyme that recycles biotin (a B vitamin) in the body. Biotinidase ... about additional tests: Do you have a family history of an inherited disorder? Have you previously given ...
... Active Cycle of Breathing Technique Airway Clearance Techniques Autogenic Drainage Basics of Lung Care Chest Physical Therapy ... care. Clinician Awards Clinician Career Development Awards Clinician Training Awards Mutation Analysis Program Network News Network News: ...
Two thousand five hundred and thirty two (2,532) males, aged 25 – 50 years potential blood donors were randomly selected from the total number of volunteer blood donors who satisfied the initial screening criteria for donating blood, and were screened for HIV using Immunocomb II (HIV 1 and 2 Bispot) and Recombigen ...
Full Text Available X-linked adrenoleukodystrophy (X-ALD is a rare inherited metabolic disease that results in the accumulation of very long chain fatty acids (VLCFA in plasma and all tissues. Recent studies regarding cerebral X-ALD (CALD treatment emphasize the importance of its early diagnosis. 26:0 lysophosphatidylcholine (LysoPC is a sensitive biomarker for newborn screening of X-ALD, while its application for Japanese DBS is unclear. Therefore, we evaluated the feasibility of 20:0 LysoPC and 24:0 LysoPC along with 26:0 LysoPC for diagnosing X-ALD in a cohort of newborns (n = 604, healthy adults (n = 50 and patients (n = 4. Results indicated that 26:0 LysoPC had strong significance for discrimination of patients by the amounts of 2.0 to 4.0 and 0.1 to 1.9 pmol/punch for patients and newborns/healthy adults, respectively. Based on these values, we recommend that further diagnostic confirmation is essential if the amount of 26:0 LysoPC in DBS is above 1.7 pmol/punch.
Full Text Available Every year, an estimated 180 000 babies in the Western Pacific Region are infected by hepatitis B, 13 000 by syphilis and 1400 by HIV through mother-to-child transmission.1 These infections can be largely prevented by antenatal screening, treatment and timely vaccination for newborns. Despite challenges in controlling each disease, major achievements have been made. National immunization programmes have reduced the regional hepatitis B prevalence from over 8% in 1990 to 0.93% among children born in 2012. In addition, HIV testing and treatment have helped keep the regional prevalence of HIV infections at 0.1%. In contrast, the number of maternal syphilis cases is still high in the Western Pacific Region, with an estimated 45 million cases in 2012. Elimination of mother-to-child transmission of these infections cannot be achieved through vertically applied programming and require using and augmenting to the shared Maternal, Newborn and Child Health platform to coordinate, integrate and enable cost efficiencies for these elimination efforts. The Regional Framework for Triple Elimination of Mother-to-Child Transmission of HIV, Hepatitis B and Syphilis in Asia and the Pacific 2018–2030 offers such a coordinated approach towards achieving the triple elimination of mother-to-child transmission of HIV, hepatitis B and syphilis and provides guidance for decision-makers, managers and health professionals working in programmes addressing maternal, newborn and child health, HIV, hepatitis, sexually transmitted infections and immunization.
Jacobsen, Katja Kemp
INTRODUCTION: In the United States (US), about one-half of women screened with annual mammography have at least one false-positive test after ten screens. The estimate for European women screened ten times biennially is much lower. We evaluate to what extent screening interval, mammogram type......=400,204), between 1991-2012 and 1993-2013, respectively. Model-based cumulative false-positive risks were computed for the entire sample, using two statistical methods (Hubbard Njor) previously used to estimate false-positive risks in the US and Europe. RESULTS: Empirical cumulative risk of at least...... one false-positive test after eight (annual or biennial) screens was 41.9% in BCSC, 16.1% in Copenhagen, and 7.4% in Funen. Variation in screening interval and mammogram type did not explain the differences by country. Using the Hubbard method, the model-based cumulative risks after eight screens...
Moshina, Nataliia; Ursin, Giske; Roman, Marta; Sebuødegård, Sofie; Hofvind, Solveig
To investigate the probability of breast cancer among women recalled due to abnormal findings on the screening mammograms (PPV-1) and among women who underwent an invasive procedure (PPV-2) by mammographic density (MD), screening mode and age. We used information about 28,826 recall examinations from 26,951 subsequently screened women in the Norwegian Breast Cancer Screening Program, 1996-2010. The radiologists who performed the recall examinations subjectively classified MD on the mammograms into three categories: fatty (70%). Screening mode was defined as screen-film mammography (SFM) and full-field digital mammography (FFDM). We examined trends of PPVs by MD, screening mode and age. We used logistic regression to estimate odds ratio (OR) of screen-detected breast cancer associated with MD among women recalled, adjusting for screening mode and age. PPV-1 and PPV-2 decreased by increasing MD, regardless of screening mode (p for trend breasts. Among women recalled, the adjusted OR of breast cancer decreased with increasing MD. Compared with women with fatty breasts, the OR was 0.90 (95% CI: 0.84-0.96) for those with medium dense breasts and 0.85 (95% CI: 0.76-0.95) for those with dense breasts. PPVs decreased by increasing MD. Fewer women needed to be recalled or undergo an invasive procedure to detect one breast cancer among those with fatty versus dense breasts in the screening program in Norway, 1996-2010. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
La Pean, Alison; Collins, Jenelle L.; Christopher, Stephanie A.; Eskra, Kerry L.; Roedl, Sara; Tluczek, Audrey; Farrell, Michael H.
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
McClaren, Belinda J; Aitken, Maryanne; Massie, John; Amor, David; Ukoumunne, Obioha C; Metcalfe, Sylvia A
Newborn screening for cystic fibrosis is increasingly available, but cascade testing following the diagnosis in a child has received little attention. We previously reported low levels of cascade testing over time, and this study investigated motivators as well as barriers to testing. Parents were interviewed about communicating the genetic information and also asked to recruit their relatives to receive a specifically developed questionnaire. Thirty parents were interviewed and addresses of 284 relatives were provided; completed questionnaires were received from 225 (79%). A relative's relationship to the child, as well as knowledge, is associated with having had carrier testing. Relatives' reasons for testing included curiosity and wanting information for other relatives and for reproductive planning. Reasons for not testing were perceived irrelevance, lacking awareness, and viewing it as something to do in the future. Parents communicated the genetic information to relatives in various ways, which contributed to whether relatives accessed carrier testing. Newborn screening programs should provide support to parents to aid communication of genetic information to relatives. (Ir)relevance of testing is often linked to life stage; ongoing support and communication may allow relatives to learn of their risk and then seek testing, if they wish, at a time perceived to be most relevant to them.
Holloway, Edith E; Sturrock, Bonnie A; Lamoureux, Ecosse L; Keeffe, Jill E; Rees, Gwyneth
To investigate characteristics associated with screening positive for depressive symptoms among older adults accessing low-vision rehabilitation and eye-care services and to determine client acceptability of depression screening using the Patient Health Questionnaire-2 (PHQ-2) in these settings. One-hundred and twenty-four older adults (mean = 77.02 years, SD = 9.12) attending low-vision rehabilitation and eye-care services across Australia were screened for depression and invited to complete a telephone-administered questionnaire to determine characteristics associated with depressive symptoms and client acceptability of screening in these settings. Thirty-seven per cent (n = 46/124) of participants screened positive for depressive symptoms, and the majority considered the new depression screening method to be a 'good idea' in vision services (85%). Severe vision loss (<6/60 in the better eye) was associated with an increased odds of screening positive for depressive symptoms (odds ratio 2.37; 95% confidence interval 1.08-6.70) even after adjusting for potential confounders. Participants who screened positive had a preference for 'talking' therapy or a combination of medication and 'talking therapy' delivered within their own home (73%) or via telephone (67%). The PHQ-2 appears to be an acceptable method for depression screening in eye-care settings among older adults. Targeted interventions that incorporate home-based or telephone delivered therapy sessions may improve outcomes for depression in this group. © 2014 ACOTA.
59 MDW/SGVU SUBJECT: Professional Presentation Approval 31 JULY2017 Your paper, entitled Follow-up Evaluation of Air Force Blood Donors Screening...PUBLISHED OR PRESENTED: Follow-up Evaluation of Air Force Blood Donors Screening Positive for Chagas Disease 7. FUNDING RECEIVED FOR THIS STUDY? 0...PREVIOUS EDITIONS ARE OBSOLETE 50. DATE Page 3 of 3 Pages Follow-up Evaluation of Air Force Blood Donors Screening Positive for Chagas Disease
Grace Suzan Lopes Lacerda
Full Text Available A triagem neonatal conhecida como teste do pezinho é um conjunto de exames que tem como finalidade detectar patologias em recém-nascidos e que deve ser realizado preferencialmente entre o 3º e o 7º mês de vida do neonato. O teste detecta seis anomalias congênitas: fenilcetonúria, hipotireoidismo congênito, anemia falciforme, fibrose cística, deficiência de biotinidase e hiperplasia adrenal congênita. Para o Ministério da Saúde, em 2007, a menor cobertura populacional de teste do pezinho no Brasil ocorreu no Amapá. Através de uma metodologia qualitativa, foram coletados dados institucionais no laboratório de referência do estado, Instituto de Hematologia e Hemoterapia do Amapá (Hemoap, usando também como instrumento de pesquisa um questionário dirigido às mães e/ou responsáveis dos neonatos no momento de realização do exame. Dos resultados obtidos somente cinco municípios dos 16 realizam a coleta do teste do pezinho, dando uma cobertura de 31,2%. Quanto aos questionários, mostrou-se majoritário o número de indivíduos que não têm conhecimentos sobre a importância do exame. Em contrapartida, 100,0% dos entrevistados responderam que tinham interesse em retornar para buscar o resultado do exame, contudo o estudo levantou dados negligenciados dos anos de 2013 a 2015, demonstrando ser grande o desinteresse das mães e/ou responsáveis que levam o neonato para realizar o teste. Tais dados mostram que o Programa Nacional de Triagem Neonatal no Amapá está longe de obter uma cobertura completa e que os bancos de dados são escassos quanto a informações sobre o estado. ============================================= Newborn screening comprises a set of tests that aim to detect pathologies in newborns and should be performed preferably between the 3rd and 7th month of life. The scree-ning detects six congenital anomalies: phenylketonuria, congenital hypothyroidism, sickle cell anemia, cystic fibrosis, biotinidase deficiency
Roman, Marta; Castells, Xavier; Hofvind, Solveig
risk (RR) of screen-detected cancer for women with false-positive versus negative results. We analyzed information from 1,935,093 women 50–69 years who underwent 6,094,515 screening exams. During an average 5.8 years of follow-up, 230,609 (11.9%) women received a false-positive result and 27,849 (1......Women with false-positive results are commonly referred back to routine screening. Questions remain regarding their long-term outcome of breast cancer. We assessed the risk of screen-detected breast cancer in women with false-positive results. We conducted a joint analysis using individual level.......4%) were diagnosed with screen-detected cancer. The adjusted RR of screen-detected cancer after a false-positive result was 2.01 (95% CI: 1.93–2.09). Women who tested false-positive at first screen had a RR of 1.86 (95% CI: 1.77–1.96), whereas those who tested false-positive at third screening had a RR...
Román, Marta; Castells, Xavier; Hofvind, Solveig; von Euler-Chelpin, My
Women with false-positive results are commonly referred back to routine screening. Questions remain regarding their long-term outcome of breast cancer. We assessed the risk of screen-detected breast cancer in women with false-positive results. We conducted a joint analysis using individual level data from the population-based screening programs in Copenhagen and Funen in Denmark, Norway, and Spain. Overall, 150,383 screened women from Denmark (1991-2008), 612,138 from Norway (1996-2010), and 1,172,572 from Spain (1990-2006) were included. Poisson regression was used to estimate the relative risk (RR) of screen-detected cancer for women with false-positive versus negative results. We analyzed information from 1,935,093 women 50-69 years who underwent 6,094,515 screening exams. During an average 5.8 years of follow-up, 230,609 (11.9%) women received a false-positive result and 27,849 (1.4%) were diagnosed with screen-detected cancer. The adjusted RR of screen-detected cancer after a false-positive result was 2.01 (95% CI: 1.93-2.09). Women who tested false-positive at first screen had a RR of 1.86 (95% CI: 1.77-1.96), whereas those who tested false-positive at third screening had a RR of 2.42 (95% CI: 2.21-2.64). The RR of breast cancer at the screening test after the false-positive result was 3.95 (95% CI: 3.71-4.21), whereas it decreased to 1.25 (95% CI: 1.17-1.34) three or more screens after the false-positive result. Women with false-positive results had a twofold risk of screen-detected breast cancer compared to women with negative tests. The risk remained significantly higher three or more screens after the false-positive result. The increased risk should be considered when discussing stratified screening strategies. © 2016 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.
Wilian Maduell de Mattos
emissions (TEOE, cochlear-eyelid reflex (CER and Brainstem Evoked Auditory Potential (BEAP. RESULTS: we tested 625 children. In the first stage, 458 NBs passed and 155 failed. 122 NBs returned to the second stage, and 8 underwent it because they were positive for HL risk factors. 12 NBs (1.9% were referred for diagnostic investigation. Of the 5 who returned for the BAEP, we observed HL in two NBs. CONCLUSIONS: the program tested 81.7% of the candidates. The program compliance rate was of 68.2%. In the first stage, 26.7% of the NBs failed. The program is being implemented and requires constant analyzes of its difficulties, aiming at solving them in order to turn the Universal Newborn Auditory Screening into reality.
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
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.
Kretzschmar, Mirjam; Satterwhite, Catherine; Leichliter, Jami; Berman, Stuart
Model impact of increasing screening and partner notification (PN) on chlamydia positivity. We used a stochastic simulation model describing pair formation and dissolution in an age-structured heterosexual population. The model accounts for steady, casual, and concurrent partnerships and a highly sexually active core group. The model used existing sexual behavior data from the United States and was validated using chlamydia positivity data from Region X (Alaska, Idaho, Oregon, Washington). A screening program with a coverage rate of 20% was implemented among women aged 15 to 24 years. After 10 years, we increased screening coverage to 35%, 50%, and 65% and partner treatment rates from 20% to 40% and 55%. Finally, we included male screening (aged 15-24, screening coverage: 20% and 35%, partner treatment: 25% and 40%). We analyzed the effects on chlamydia positivity in women and the frequency of reinfection 6 months after treatment. The model described the decline in positivity observed from 1988 to 1997 in Region X, given screening coverage of 20% and a 25% partner treatment rate. Increasing screening coverage from 35% to 65% resulted in incremental decreases in positivity as did increasing the PN rate; a 23% reduction in positivity was achieved by either increasing screening by 3-fold or PN by 2-fold. Adding male screening to the program had less impact than increasing screening coverage or PN among women. Increased PN and treatment reduced reinfection rates considerably. Increasing efforts in PN may contribute at least as much to control of chlamydia infection as increasing screening coverage rates.
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.
Rebolj, Matejka; Pribac, Igor; Frederiksen, Maria Eiholm
Human Papillomavirus (HPV) testing has been extensively studied in randomized controlled trials of primary cervical screening. Based on encouraging results concerning its high detection rates and a high negative predictive value for high-grade cervical intraepithelial neoplasia (CIN), HPV testing...... will probably replace cytology in future primary cervical screening. However, HPV testing is associated with more frequent false-positive tests compared to cytology. False-positive tests are defined as positive screening tests which are not subsequently confirmed with high-grade CIN. Several authors have...
Zhang, Huan; Peng, Haiyan; Qian, Xiaoli; Ren, Can; Wang, Wentao; Li, Jianjun
Touch screens have been widely used in many kinds of electronic products. For many capacitive touch sensing devices, they always suffer from a variety of electronic signal noises. So when a finger touches the screen, it is difficult to calculate the exact touch position on the screen. We proposed an algorithm of calculating the position in a self-capacitance touch screen to alleviate noise interference. We determined the touch region by calculating the differences between current data and reference data in every channel. In the touch region we divided it into different ranges to calculate the touch point. The simulation results show that the algorithm that we proposed can alleviate noise interference effectively and obtain the exact positioning on touch screen accurately.
José Simon Camelo Junior
Full Text Available Este trabalho avalia a eficiência da adição do exame da galactosemia junto ao Teste do Pezinho. Baseado na incidência média estimada de galactosemia, de 1:19.984 recém-nascidos, no Estado de São Paulo, Brasil, este estudo desenvolve um modelo de análise de custo-benefício, utilizando a relação benefício/custo (B/C, a taxa de juros de 9,25% ao ano para descapitalização dos resultados obtidos. Também se realiza uma análise de sensibilidade, em função da variação da taxa de juros entre 0 e 20% e do intervalo de 95% de confiança da incidência da galactosemia (1:7.494 a 1:59.953 recém-nascidos. A economia obtida com a melhora da saúde das crianças doentes identificadas precocemente é superior aos custos (B/C = 1,33, caracterizando como eficiente a política de adição do exame neonatal para galactosemia no Teste do Pezinho. Quanto menor a taxa de juros vigente na economia, mais eficiente é a política de triagem neonatal, não considerados os custos sociais intangíveis evitados.This study assesses the efficiency of the galactosemia add-on test in neonatal screening performed on regular Guthrie card blood spots. Based on estimated average incidence of galactosemia (1:19,984 newborns in São Paulo State, Brazil, the study develops a cost-benefit analysis model, using a B/C ratio and a 9.25% annual interest rate in order to decapitalize the results. Sensitivity analysis is also performed, varying (as a function of the interest or discount rate from 0 and 20% and according to the 95% confidence interval (1:7,494-1:59,953 newborns. The results show that the savings obtained by improved health of galactosemic patients detected early by add-on neonatal screening is superior to the costs (B/C=1.33, characterizing galactosemia add-on testing in neonatal screening as an efficient policy. The lower the prevailing interest rate in the economy, the more efficient the neonatal screening policy.
Wang, Jiao; Song, Jingjing; Zhou, Shuimei; Fu, Yourong; Bailey, Jeffrey A; Shen, Changxin
Identification of RhD antigen epitopes is a key component in understanding the pathogenesis of haemolytic disease of the foetus and newborn. Research has indicated that phage display libraries are useful tools for identifying novel mimic epitopes (mimotopes) which may help to determine antigen specificity. We selected the mimotopes of blood group RhD antigen by affinity panning a phage display library using monoclonal anti-D. After three rounds of biopanning, positive phage clones were identified by enzyme-linked immunosorbent assay (ELISA) and then sent for sequencing and peptides synthesis. Next, competitive ELISA and erythrocyte haemagglutination inhibition tests were carried out to confirm the inhibitory activity of the synthetic peptide. To evaluate the diagnostic performance of the synthetic peptide, a diagnostic ELISA was examined. Fourteen of 35 phage clones that were chosen randomly from the titering plate were considered to be positive. Following DNA sequencing and translation, 11 phage clones were found to represent the same peptide - RMKMLMMLMRRK (P4) - whereas each of the other three clones represented a unique peptide. Through the competitive ELISA and erythrocyte haemagglutination inhibition tests, the peptide (P4) was verified to have the ability to mimic the RhD antigen. The diagnostic ELISA for P4 proved to be sensitive (82.61%) and specific (88.57%). This study reveals that the P4 peptide can mimic RhD antigen and paves the way for the development of promising targeted diagnostic and therapeutic platforms for haemolytic disease of the foetus and newborn.
Sandes, V S; Silva, S G C; Motta, I J F; Velarde, L G C; de Castilho, S R
We propose to analyse the positive and false-positive results of treponemal and nontreponemal tests in blood donors from Brazil and to evaluate possible factors associated with the results of treponemal tests. Treponemal tests have been used widely for syphilis screening in blood banks. The introduction of these tests in donor screening has caused an impact and a loss of donors who need to be assessed. This was a retrospective cross-sectional study of syphilis screening and confirmatory test results of blood donors that were obtained before and after adopting a chemiluminescent immunoassay (CLIA). A comparative analysis was performed using a second sample drawn from positive donors. The possible factors associated with CLIA-positive or CLIA-false-positive results were investigated in a subgroup. Statistical tests were used to compare the proportions and adjusted estimates of association. The reactivity rate increased from 1·01% (N = 28 158) to 2·66% (N = 25 577) after introducing the new test. Among Venereal Disease Research Laboratory (VDRL)- and CLIA-confirmed results, the false-positive rates were 40·5% (N = 180) and 37·4% (N = 359), respectively (P = 0·5266). Older donors (OR = 1·04; P = 0·0010) and donors with lower education levels (OR = 6·59; P = 0·0029) were associated with a higher risk of positivity for syphilis. CLIA represents an improvement in blood bank serological screening. However, its use in a healthy population appears to result in high rates of false positives. Identifying which characteristics can predict false positives, however, remains a challenge. © 2017 British Blood Transfusion Society.
Andersen, Sune Bangsbøll; Vejborg, Ilse; von Euler-Chelpin, My
women experiencing a negative screening test, regardless of whether the false positive statement was given following assessment or following surgery. The benign to malignant biopsy ratio, comparing the type B false positives to the true positives, was by the fifth round well below the desirable level...
Blood Donors Screening Positive for Cbagas Disease presented at/published to Military Health System Research Symposium (Florida, 27-30 Aug 2017) in...disease upon blood donation at JBSA -Lackland 6. TITLE OF MATERIAL TO BE PUBLISHED OR PRESENTED: Follow-up evaluation of Air Force blood donors ...Designated Exempt Reviewer Follow-up evaluation of Air Force blood donors screening positive for Chagas disease Joseph Marcus1, Bryant Webber2, Leo Cropper2
Ohmori, Shuhei; Sugaya, Akiko; Toida, Naomi; Suzuki, Etsuji; Izutsu, Masato; Tsutsui, Tomoko; Kataoka, Yuko; Maeda, Yukihide; Fukushima, Kunihiro; Nishizaki, Kazunori
Permanent hearing impairment has a life-long impact on children and its early identification is important for language development. A newborn hearing screening (NHS) program has started in Okayama Prefecture, Japan, in 1999 to detect hearing impairment immediately after birth. We aim to examine the effect of this screening program on vocabulary development in pre-school children in a before and after comparative study design. A total of 107 5-year-old children who graduated from Okayama Kanariya Gakuen (an auditory center for hearing-impaired children) between 1998 and 2011 were enrolled in this study. The pre-NHS group (n=40) was defined as those who graduated between 1998 and 2003, while the post-NHS group (n=67) was defined as those who graduated between 2004 and 2011. The primary outcome was receptive vocabulary, which was assessed by the Picture Vocabulary Test [score vocabulary, or the number of productive words, which was assessed by an original checklist [vocabulary development and compared both groups. The adjusted Picture Vocabulary Test score and number of productive words were significantly higher (pvocabulary and 4.17 (95% confidence interval: 1.69-10.29) for productive vocabulary. The introduction of NHS in Okayama Prefecture significantly improved both receptive and productive vocabulary development in hearing-impaired children. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
Arora, Satyam; Doda, Veena; Maria, Arti; Kotwal, Urvershi; Goyal, Saurabh
Allo-anti-M often has an immunoglobulin G (IgG) component but is rarely clinically significant. We report a case of hemolytic disease of the fetus and newborn along with prolonged anemia in newborn twins that persisted for up to 70 days postbirth. The aim was to diagnose and successfully manage hemolytic disease of newborn (HDN) due to maternal alloimmunization. Direct antiglobulin test (DAT), antigen typing, irregular antibody screening and identification were done by polyspecific antihuman globulin cards and standard tube method. At presentation, the newborn twins (T1, T2) had HDN with resultant low reticulocyte count and prolonged anemia, which continued for up to 70 days of life. Blood group of the twins and the mother was O RhD positive. DAT of the both newborns at birth was negative. Anti-M was detected in mothers as well as newborns. Type of antibody in mother was IgG and IgM type whereas in twins it was IgG type only. M antigen negative blood was transfused thrice to twin-1 and twice to twin-2. Recurring reduction of the hematocrit along with low reticulocyte count and normal other cell line indicated a pure red cell aplastic state. Anti-M is capable of causing HDN as well as prolonged anemia (red cell aplasia) due to its ability to destroy the erythroid precursor cells. Newborns with anemia should be evaluated for all the possible causes to establish a diagnosis and its efficient management. Mother should be closely monitored for future pregnancies as well.
Full Text Available Allo-anti-M often has an immunoglobulin G (IgG component but is rarely clinically significant. We report a case of hemolytic disease of the fetus and newborn along with prolonged anemia in newborn twins that persisted for up to 70 days postbirth. The aim was to diagnose and successfully manage hemolytic disease of newborn (HDN due to maternal alloimmunization. Direct antiglobulin test (DAT, antigen typing, irregular antibody screening and identification were done by polyspecific antihuman globulin cards and standard tube method. At presentation, the newborn twins (T1, T2 had HDN with resultant low reticulocyte count and prolonged anemia, which continued for up to 70 days of life. Blood group of the twins and the mother was O RhD positive. DAT of the both newborns at birth was negative. Anti-M was detected in mothers as well as newborns. Type of antibody in mother was IgG and IgM type whereas in twins it was IgG type only. M antigen negative blood was transfused thrice to twin-1 and twice to twin-2. Recurring reduction of the hematocrit along with low reticulocyte count and normal other cell line indicated a pure red cell aplastic state. Anti-M is capable of causing HDN as well as prolonged anemia (red cell aplasia due to its ability to destroy the erythroid precursor cells. Newborns with anemia should be evaluated for all the possible causes to establish a diagnosis and its efficient management. Mother should be closely monitored for future pregnancies as well.
Danseco, Evangeline R.; Marques, Paul R.
The Problem-Oriented Screening Instrument for Teenagers (POSIT) screens for multiple problems among adolescents at risk for substance use. A shortened version of the POSIT was developed, using factor analysis, and correlational and reliability analyses. The POSIT-SF shows potential for a reliable and cost-efficient screen for youth with substance…
Gláucia Manzan Queiroz de Andrade
Full Text Available A toxoplasmose congênita pode causar déficit neurossensorial em até 20% dos casos e o tratamento no primeiro ano de vida melhora o prognóstico. No Brasil, desconhece-se o impacto da infecção na hipoacusia. OBJETIVO: Avaliar a audição de crianças com toxoplasmose congênita identificadas pela triagem neonatal. MATERIAL E MÉTODO: Estudo prospectivo de crianças com toxoplasmose congênita identificadas pela triagem neonatal (IgM anti-T. gondii em Belo Horizonte, durante 2003/2004. Realizada sorologia confirmatória (mãe/filho e consideradas positivas as crianças apresentando IgM e/ou IgA nos primeiros seis meses ou IgG aos 12 meses de vida. Avaliações auditivas ao diagnóstico e após 12 meses incluíram Audiometria Comportamental, Emissões Otoacústicas, Imitanciometria, Audiometria de Tronco Encefálico. RESULTADOS: Dentre 30.808 crianças triadas (97% dos nascidos vivos, 20 apresentavam toxoplasmose congênita, 15 (75% com infecção subclínica. Dezenove crianças realizaram avaliação auditiva. Quatro apresentaram déficit neurossensorial (21,1%. Uma criança apresentou outros fatores de risco para hipoacusia; nas outras três, a toxoplasmose foi o único fator observado. Duas crianças, tratadas adequadamente com antiparasitários, apresentaram déficit auditivo, em desacordo com a literatura. CONCLUSÃO: Os achados sugerem que a toxoplasmose congênita, prevalente no Brasil, é um fator de risco para hipoacusia e o impacto dessa infecção nas perdas auditivas deve ser estudado.Congenital toxoplasmosis may cause sensorineural deficit in up to 20% of the patients and proper treatment in the first year improves prognosis. In Brazil, this infection’s impact on hearing impairment is unknown. AIM: To evaluate hearing of newborns with congenital toxoplasmosis identified by the newborn screening service. METHOD: This prospective study analyzed children with congenital toxoplasmosis identified by newborn screening (IgM anti
Jaqueline Medeiros de Mello
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
Downing, Katherine L; Hinkley, Trina; Hesketh, Kylie D
There is little current understanding of the influences on sedentary behavior and screen time in preschool children. This study investigated socioeconomic position (SEP) and parental rules as potential correlates of preschool children's sedentary behavior and screen time. Data from the Healthy Active Preschool Years (HAPPY) Study were used. Participating parents reported their child's usual weekly screen time and their rules to regulate their child's screen time. Children wore accelerometers for 8 days to objectively measure sedentary time. Children whose parents limited television viewing spent significantly less time in that behavior and in total screen time; however, overall sedentary behavior was unaffected. An association between parents limiting computer/electronic game use and time spent on the computer was found for girls only. SEP was inversely associated with girls', but not boys', total screen time and television viewing. As parental rules were generally associated with lower levels of screen time, intervention strategies could potentially encourage parents to set limits on, and switch off, screen devices. Intervention strategies should target preschool children across all SEP areas, as there was no difference by SEP in overall sedentary behavior or screen time for boys.
... 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 ...
Osara, Yetsa; Coakley, Kathryn; Devarajan, Aishwarya; Singh, Rani H
Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments. Participants complete online profiles generating data on diagnosis, treatment, symptoms, outcomes, barriers to care, and quality of life. Resources such as education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, and professional support tools are described. In addition, to examine the ability of NBS Connect to generate data that guides hypothesis-driven research, data pertaining to age at diagnosis, bone health, and skin conditions in individuals with PKU were assessed. The objective of this paper is to describe the development of NBS Connect and highlight its data, resources and research contributions. In September 2016, NBS Connect had 442 registered participants: 314 (71%) individuals with PKU, 68 (15%) with MSUD, 20 (5%) with TYR, and 40 (9%) with other disorders on the NBS panel. Age at diagnosis was less than 4 weeks in 285 (89%) of 319 respondents to this question and between 1 month and 14 years in 29 (9%) individuals. Of 216 respondents with PKU, 33 (15%) had a DXA scan in the past year. Of 217 respondents with PKU, 99 (46%) reported at least one skin condition. NBS Connect was built and refined with feedback from all stakeholders, including individuals with inherited metabolic disorders. Based on patient-reported data, future studies can be initiated to test hypotheses such as the relationship between PKU and skin
Arandjic, D.; Bozovic, P.; Ciraj-Bjelac, O.; Antic, V.
The objective of this paper is to identify the effects of the ceiling suspended screen position to the scatter radiation levels in the interventional cardiology. The scatter radiation in terms of ambient dose equivalent H * (10) was measured for various positions of protective screen in the positions of the first operator, nurse and radiographer, at elevations 100-190 cm and in four different angulations of the x-ray tube. To assess the effectiveness of the protective screen, the scattered dose was also measured in the absence of any protection in all four angulations and elevations. To simulate real clinical situation the measurements were performed in the presence of 30 cm PMMA phantom using standard clinical protocol. The utility of protective screen varied for different positions and angulations. Scatter radiation levels varied in the range 70 - 3400 μSv/h for the first operator, 140 - 3200 μSv/h for the nurse and 50 - 560 μSv/h for radiographer. Ceiling suspended screens can provide a substantial level of protection (up to factor 18) in interventional cardiology, but they have to be properly managed and positioned to achieve sufficient level of protection. The guidance for optimal protection is provided in the paper.(author)
O'Connor, T M
BACKGROUND: The ligase chain reaction Mycobacterium tuberculosis assay uses ligase chain reaction technology to detect tuberculous DNA sequences in clinical specimens. A study was undertaken to determine its sensitivity and specificity as a primary screening tool for the detection of culture positive tuberculosis. METHODS: The study was conducted on 2420 clinical specimens (sputum, bronchoalveolar lavage fluid, pleural fluid, urine) submitted for primary screening for Mycobacterium tuberculosis to a regional medical microbiology laboratory. Specimens were tested in parallel with smear, ligase chain reaction, and culture. RESULTS: Thirty nine patients had specimens testing positive by the ligase chain reaction assay. Thirty two patients had newly diagnosed tuberculosis, one had a tuberculosis relapse, three had tuberculosis (on antituberculous therapy when tested), and three had healed tuberculosis. In the newly diagnosed group specimens were smear positive in 21 cases (66%), ligase chain reaction positive in 30 cases (94%), and culture positive in 32 cases (100%). Using a positive culture to diagnose active tuberculosis, the ligase chain reaction assay had a sensitivity of 93.9%, a specificity of 99.8%, a positive predictive value of 83.8%, and a negative predictive value of 99.9%. CONCLUSIONS: This study is the largest clinical trial to date to report the efficacy of the ligase chain reaction as a primary screening tool to detect Mycobacterium tuberculosis infection. The authors conclude that ligase chain reaction is a useful primary screening test for tuberculosis, offering speed and discrimination in the early stages of diagnosis and complementing traditional smear and culture techniques.
Brodersen, John; Siersma, Volkert Dirk
Cancer screening programs have the potential of intended beneficial effects, but they also inevitably have unintended harmful effects. In the case of screening mammography, the most frequent harm is a false-positive result. Prior efforts to measure their psychosocial consequences have been limite...... by short-term follow-up, the use of generic survey instruments, and the lack of a relevant benchmark-women with breast cancer....
Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples From a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark
Borch, Luise; Lund, Allan; Wibrand, Flemming
of presymptomatic CPT1A deficiency detected through newborn screening in Denmark with diagnostic levels of carnitine and acylcarnitines in the initial dried blood spot. Levels of plasma-free carnitine and acylcarnitines in follow-up samples were normal, but reverted to diagnostic levels when the patient developed...... clinical symptoms at the age of 8 months. At that time, a diagnosis of CPT1A deficiency was confirmed by sequence analysis of the CPT1A gene revealing homozygosity for a novel c.167C>T variation in exon 3. Enzyme activity measurements showed a relatively mild enzyme defect with a decreased residual enzyme...... activity of 17–25%. We conclude that CPT1A gene testing and/or enzyme assay is mandatory to confirm an abnormal newborn screen suggesting CPT1A deficiency to avoid delayed diagnoses....
King, Cheryl A; Gipson, Polly Y; Horwitz, Adam G; Opperman, Kiel J
Previous research has documented the feasibility of screening in emergency departments for adolescent suicide risk. This randomized trial examined the effectiveness of Teen Options for Change (TOC), an intervention for adolescents seeking general medical emergency services who screen positive for suicide risk. Participants were 49 youths, ages 14 to 19, seeking services for nonpsychiatric emergencies. They screened positive for suicide risk because of recent suicidal ideation, suicide attempt, or depression plus substance abuse. Youths were randomly assigned to the TOC intervention or to enhanced treatment as usual. Depression, hopelessness, and suicidal ideation were assessed at baseline and two months later. Adolescents assigned to TOC showed greater reductions in depression than adolescents assigned to the comparison group (Cohen's d=1.07, a large effect size). Hopelessness, suicidal ideation, and substance abuse outcomes trended positively (nonsignificantly), with small to moderate effect sizes. TOC may be a promising, brief intervention for adolescents seeking emergency services and at risk of suicide.
... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Jaundice In Newborns Back ...
Weinans, M.J.; Kooij, L.; Muller, M.A.; Bilardo, K.M.; van Lith, J.M.; Tymstra, T.
OBJECTIVE: To compare the experiences of women who received a screen-positive test result for Down syndrome after nuchal translucency screening or after biochemical screening in the first trimester of pregnancy in the Netherlands. METHOD: Semi-quantitative questionnaires were sent to 40 women with a
Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.
la Marca, Giancarlo; Giocaliere, Elisa; Malvagia, Sabrina; Villanelli, Fabio; Funghini, Silvia; Ombrone, Daniela; Della Bona, Maria; Forni, Giulia; Canessa, Clementina; Ricci, Silvia; Romano, Francesca; Guerrini, Renzo; Resti, Massimo; Azzari, Chiara
Purine nucleoside phosphorylase (PNP) deficiency has been recently introduced in the newborn screening program in Tuscany. In order to improve the PNP screening efficiency, we developed a 2nd tier test to quantify PNP primary markers deoxyguanosine (dGuo) and deoxyinosine (dIno). Dried blood spots (DBS) samples were extracted with 200 μL of methanol and 100 μL of water (by two steps). Internal standards were added at a final concentration of 10 μmol/L. After extraction, samples were analysed by LC-MS/MS. The chromatographic run was performed in gradient mode by using a Synergi Fusion column. The assay was linear over a concentration range of 0.05-50 μmol/L (R2>0.999) for dGuo and 0.5-50 μmol/L (R2>0.998) for dIno. Intra- and interassay imprecision (mean CVs) for dIno and dGuo ranged from 2.9% to 12%. Limit of quantitaion (LOQ) were found to be 0.05 μmol/L and 0.5 μmol/L for dGuo and dIno, respectively. The reference ranges, obtained by measuring dGuo and dIno concentrations on DBS, were close to zero for both biomarkers. Moreover, DBS samples from seven patients with confirmed PNP were retrospectively evaluated and correctly identified. The LC-MS/MS method can reliably measure dIno and dGuo in DBS for the diagnosis of PNP. Validation data confirm the present method is characterised by good reproducibility, accuracy and imprecision for the quantitation of dIno and dGuo. The assay also appears suitable for use in monitoring treatment of PNP patients.
Investigación de cocaína y marihuana en meconio de neonatos atendidos en un hospital público: Primera experiencia realizada en la ciudad Córdoba, Argentina Screening of cocaine and marijuana in meconium of newborns from a public hospital of city of Córdoba, Argentina
Full Text Available Se investigaron cocaína y marihuana en meconio de neonatos nacidos en la Maternidad Provincial de la Ciudad de Córdoba y se relacionaron los resultados con las semanas de gestación y los pesos al nacer. Las determinaciones se realizaron utilizando inmunoensayo y cromatografía gaseosa-espectrometría de masas. Se analizaron 48 muestras de meconio recolectadas durante un año (2007-2008. De los 48 meconios analizados, 17 correspondieron a neonatos masculinos y 31 a neonatos femeninos. Se procesaron en paralelo 15 muestras de meconio como controles normales (niños no expuestos a drogas seleccionados por historia clínica y controles prenatales. De las 48 muestras de meconio 13 fueron positivas para cocaína y/o marihuana. El peso y las semanas de gestación de los neonatos cuyas muestras fueron positivas se compararon frente a un grupo control normal, hallándose mayores diferencias estadísticamente significativas (α=0,05 - pWe investigated cocaine and marijuana in meconium of newborns attended at the Hospital Materno Provincial of Córdoba City and the results were correlated with birthweight and weeks of pregnancy. The samples were analyzed using immunoassay (FPIA and gas chromatography-mass spectrometry (GC-MS for confirmation. Forty eight samples of meconium were collected during one year period (2007-2008. Of the 48 samples screened, 17 correspond to masculine sex and 31 to feminine. Fifteen samples of meconium from normal newborns (newborns not exposed to drugs selected by maternal self report, pregnancy controls were processed as control group. The results obtained in 48 samples of meconium showed 13 cases tested positive for cocaine and/or marijuana. Birth weight and weeks of gestation of newborn with positive sample results were compared with a control group. A statistically significant difference (α= 0.05 - p<0.0001 was found in relation to birth weight. Although these results arise from a small number of samples, these data have
Bailey, Heather; Thorne, Claire; Semenenko, Igor; Malyuta, Ruslan; Tereschenko, Rostislav; Adeyanova, Irina; Kulakovskaya, Elena; Ostrovskaya, Lyudmila; Kvasha, Liliana; Cortina-Borja, Mario; Townsend, Claire L.
Introduction HIV-positive women have an increased risk of invasive cervical cancer but cytologic screening is effective in reducing incidence. Little is known about cervical screening coverage or the prevalence of abnormal cytology among HIV-positive women in Ukraine, which has the most severe HIV epidemic in Europe. Methods Poisson regression models were fitted to data from 1120 women enrolled at three sites of the Ukraine Cohort Study of HIV-infected Childbearing Women to investigate factors associated with receiving cervical screening as part of HIV care. All women had been diagnosed as HIV-positive before or during their most recent pregnancy. Prevalence of cervical abnormalities (high/low grade squamous intraepithelial lesions) among women who had been screened was estimated, and associated factors explored. Results Overall, 30% (337/1120) of women had received a cervical screening test as part of HIV care at study enrolment (median 10 months postpartum), a third (115/334) of whom had been tested >12 months previously. In adjusted analyses, women diagnosed as HIV-positive during (vs before) their most recent pregnancy were significantly less likely to have a screening test reported, on adjusting for other potential risk factors (adjusted prevalence ratio (APR) 0.62, 95% CI 0.51–0.75 p<0.01 for 1st/2nd trimester diagnosis and APR 0.42, 95% CI 0.28–0.63 p<0.01 for 3rd trimester/intrapartum diagnosis). Among those with a cervical screening result reported at any time (including follow-up), 21% (68/325) had a finding of cervical abnormality. In adjusted analyses, Herpes simplex virus 2 seropositivity and a recent diagnosis of bacterial vaginosis were associated with an increased risk of abnormal cervical cytology (APR 1.83 95% CI 1.07–3.11 and APR 3.49 95% CI 2.11–5.76 respectively). Conclusions In this high risk population, cervical screening coverage as part of HIV care was low and could be improved by an organised cervical screening programme for HIV-positive
Aro, A R; Pilvikki Absetz, S; van Elderen, T M
The aim of this study was to examine psychological distress in a mammography screening process as a consequence of screening after adjusting for background, personality and prescreening distress. Subjects, aged 50 years, were invitees at their first screening. There were three groups; normal find...... perceived breast cancer risk and susceptibility. Distress related to screening and false-positive findings seems to be moderate, but prevailing cancer-specific concerns call for improvements in screening programmes....
Kahesa, Crispin; Kjaer, Susanne Kruger; Ngoma, Twalib
. CONCLUSION: Women who are widowed/separated, of high parity, of low education and married at a young age are more likely to be VIA positive and thus at risk of developing cervical cancer. The study further documents that a referral linkage between the HIV care and treatment program and the cervical cancer...... screening program is in place in the setting studied, where HIV positive were more likely to participate in the cervical cancer screening program than HIV negative women.......ABSTRACT: BACKGROUND: Tanzania is among the countries in the world where the cervical cancer incidence is estimated to be highest. Acknowledging an increase in the burden of cervical cancer, VIA was implemented as a regional cervical cancer screening strategy in Tanzania in 2002. With the aim...
Kaida, Hayato; Ishibashi, Masatoshi; Fujii, Teruhiko; Kurata, Seiji; Ogo, Etsuyo; Hayabuchi, Naofumi; Tanaka, Maki
The aim of this study was to investigate the detection rate of breast cancer by positron emission tomography cancer screening using a breast positioning device. Between January 2004 and January 2006, 1,498 healthy asymptomatic individuals underwent cancer screening by fluorine-18 fluorodeoxyglucose positron emission tomography (FDG-PET) at our institution; 660 of 1498 asymptomatic healthy women underwent breast PET imaging in the prone position using the breast positioning device to examine the mammary glands in addition to whole-body PET imaging. All subjects that showed abnormal 18 F-FDG uptake in the mammary glands were referred for further examination or surgery at our institution or a local hospital. Our data were compared with the histopathological findings or findings of other imaging modalities in our institution and replies from the doctors at another hospital. Of the 660 participants, 7 (1.06%) were found to have breast cancers at a curable stage. All the seven cancers were detected by breast PET imaging, but only five of these were detected by whole-body PET imaging; the other two were detected by breast PET imaging using the breast positioning device. In cancer screening, prone breast imaging using a positioning device may help to improve the detection rate of breast cancer. However, overall cancer including mammography and ultrasonography screening should be performed to investigate the false-negative cases and reduce false-positive cases. The effectiveness of prone breast PET imaging in cancer screening should be investigated using a much larger number of cases in the near future. (author)
... Staying Safe Videos for Educators Search English Español Sleep and Newborns KidsHealth / For Parents / Sleep and Newborns ... night it is. How Long Will My Newborn Sleep? Newborns should get 14 to 17 hours of ...
Candidiasis - oral - newborn; Oral thrush - newborn; Fungal infection - mouth - newborn; Candida - oral - newborn ... thrush. You paint this medicine on your baby's mouth and tongue. If you have a yeast infection on your nipples, your provider may recommend an ...
... your doctor, especially if the baby has a temperature of 100.4°F (38°C) or more. ... and Your Newborn Medical Care and Your Newborn Learning, Play, and Your Newborn Your Newborn's Hearing, Vision, ...
... Overview of Horseshoe Kidney Additional Content Medical News Anemia in the Newborn By Andrew W. Walter, MS ... for the Professional Version Blood Problems in Newborns Anemia in the Newborn Hemolytic Disease of the Newborn ...
Ezechi Oliver C
Full Text Available Abstract Background The proven benefit of integrating cervical cancer screening programme into HIV care has led to its adoption as a standard of care. However this is not operational in most HIV clinics in Nigeria. Of the various reasons given for non-implementation, none is backed by scientific evidence. This study was conducted to assess the willingness and acceptability of cervical cancer screening among HIV positive Nigerian women. Methods A cross sectional study of HIV positive women attending a large HIV treatment centre in Lagos, Nigeria. Respondents were identified using stratified sampling method. A pretested questionnaire was used to obtain information by trained research assistants. Obtained information were coded and managed using SPSS for windows version 19. Multivariate logistic regression model was used to determine independent predictor for acceptance of cervical cancer screening. Results Of the 1517 respondents that returned completed questionnaires, 853 (56.2% were aware of cervical cancer. Though previous cervical cancer screening was low at 9.4%, 79.8% (1210 accepted to take the test. Cost of the test (35.2% and religious denial (14.0% were the most common reasons given for refusal to take the test. After controlling for confounding variables in a multivariate logistic regression model, having a tertiary education (OR = 1.4; 95% CI: 1.03-1.84, no living child (OR: 1.5; 95% CI: 1.1-2.0, recent HIV diagnosis (OR: 1.5; 95% CI: 1.1-2.0 and being aware of cervical cancer (OR: 1.5; 95% CI: 1.2-2.0 retained independent association with acceptance to screen for cervical cancer. Conclusions The study shows that HIV positive women in our environment are willing to screen for cervical cancer and that the integration of reproductive health service into existing HIV programmes will strengthen rather than disrupt the services.
Full Text Available Abstract Background Universal newborn screening for early detection of children affected by sickle cell disorders and cystic fibrosis is currently being implemented across England. Parents of infants identified as carriers of these disorders must also be informed of their baby's result. However there is a lack of evidence for most effective practice internationally when doing so. This study describes current or proposed models for imparting this information in practice and explores associated challenges for policy. Methods Thematic analysis of semi-structured interviews with Child Health Coordinators from all English Health Regions. Results Diverse methods for imparting carrier results, both within and between regions, and within and between conditions, were being implemented or planned. Models ranged from result by letter to in-person communication during a home visit. Non-specialists were considered the best placed professionals to give results and a similar approach for both conditions was emphasised. While national guidance has influenced choice of models, other factors contributed such as existing service structures and lack of funding. Challenges included uncertainty about guidance specifying face to face notification; how best to balance allaying parental anxiety by using familiar non-specialist health professionals with concerns about practitioner competence; and extent of information parents should be given. Inadequate consideration of resource and service workload was seen as the main policy obstacle. Clarification of existing guidance; more specific protocols to ensure consistent countrywide practice; integration of the two programmes; and 'normalising' carrier status were suggested as improvements. Conclusion Differing models for communicating carrier results raise concerns about equity and clinical governance. However, this variation provides opportunity for evaluation. Timely and more detailed guidance on protocols with
Li, Ping; Pang, Li-Hong; Liang, Hai-Feng; Chen, Hong-Yan; Fan, Xiao-Jing
Maternal IgG anti-A/B titers have been considered as a susceptible factor to the risk of ABO hemolytic disease in newborn (ABO-HDN). However, the results remain controversial. This meta-analysis aimed to estimate the association between maternal IgG anti-A/B titers and the risk of ABO-HDN. Trials on the relationship between maternal IgG anti-A/B titers and the risk of ABO-HDN were collected by searching Embase, PubMed, and Cochrane Central Register of Controlled Trials (CENTRAL) electronic databases. The inclusion criteria were maternal IgG anti-A/B titers screening and the evaluation of clinical outcomes in relation to ABO-HDN. Stata 12.0 was used to analyze the data. A total of 23 trials were eligible for inclusion, of which four trials with 5,246 participants were suitable for this meta-analysis. Meta-analysis results suggested that maternal IgG anti-A/B titers were significantly associated with the risk of ABO-HDN [OR = 2.86, 95% CI = 2.50-3.28; OR = 4.67, 95% CI = 3.92-5.55; OR = 1.61, 95% CI = 1.36-1.91 in titers (128 to 256) vs. titers (64 or lower), titers (512 or higher) vs. titers (64 or lower), and titers (512 or higher) vs. titers (128-256), respectively]. Our meta-analysis suggests that maternal IgG anti-A/B titers are significantly associated with the risk of ABO-HDN. They contribute to the prediction of risk of ABO-HDN, in addition to the need for invasive treatment for antibody titers ≥512.
Nogueira, Zeni Drubi; Boa-Sorte, Ney; Leite, Maria Efigênia de Queiroz; Kiya, Márcia Miyuki; Amorim, Tatiana; Fonseca, Silvana Fahel da
To study breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD). A cross-sectional study of 357 children with SS and SC hemoglobinopathies aged between 2 and 6 years old receiving regular follow-up at a Newborn Screening Reference Service (NSRS) between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopathy and child's age and sex. The average (SD) age was 3.7 (1.1) years, 52.9% were boys and 53.5% had SS hemoglobinopathy. The prevalence of exclusive breastfeeding (EBR) up to six months of age was 31.5%, the median EBR times (p25-p75) was 90.0 (24.0-180.0) days and the median weaning ages (p25-p75) was 360.0 (90.0-20.0) days respectively. Normal W/H children experienced EBR for an average duration almost four times longer than malnourished children (p=0.01), and were weaned later (p<0.05). Height deficit was found in 5.0% of children, while all the children with severe short stature had SS hemoglobinopathy and were over 4 years of age. EBR time and weaning age were greater than found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBR and later weaning were associated with improved anthropometric indicators. Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.
Jindatanmanusan, Punyanuch; Riolueang, Suchada; Glomglao, Waraporn; Sukontharangsri, Yaowapa; Chamnanvanakij, Sangkae; Torcharus, Kitti; Viprakasit, Vip
Neonatal screening for haemoglobin (Hb) disorders is a standard of care in several developed countries with the main objective to detect Hb S. Such practice has not been established in Thailand where α-thalassaemia and haemoglobin E (Hb E) are highly prevalent. Early identification of thalassaemias could be helpful and strengthen the programme for prevention and control for severe thalassaemias. Data from isoelectric focusing (IEF) and Isoscan® for detecting types and amount (%) of each haemoglobin in 350 newborn's dried blood spots were analysed and compared with the comprehensive genotype analysis by DNA studies as a gold standard. Based on genetic profiles, there were 10 different categories: (1) normal (n = 227), (2) α(+)-thalassaemia trait (n = 14), (3) α(0)-thalassaemia trait (n = 13), (4) β(0)-thalassaemia trait (n = 7), (5) Hb E trait (n = 72), (6) Hb E trait with α(0)-thalassaemia or homozygous α(+)-thalassaemia (n = 5), (7) Hb E trait with α(+)-thalassaemia trait (n = 5), (8) homozygous Hb E (n = 3), (9) homozygous Hb E with α(0)-thalassaemia trait (n = 1) and (10) Hb H disease (n = 3). The presence of Hb Bart's and Hb E were used to identify cases with α-thalassaemia and Hb E, respectively. We set 0.25% of Hb Bart's and 1.5% of Hb E as a cut-off level to detect α(+)-thalassaemia trait (sensitivity 92.86% and specificity 74.0%) and Hb E trait with 100% of both sensitivity and specificity for IEF diagnosis. Although molecular diagnosis seems to be better for definitive diagnosis of thalassaemia syndromes at birth, however, using our reference range described herein, IEF can be applied in a resource-limiting setting with acceptable reliability.
Amir, Rabia; Knio, Ziyad O; Mahmood, Feroze; Oren-Grinberg, Achikam; Leibowitz, Akiva; Bose, Ruma; Shaefi, Shahzad; Mitchell, John D; Ahmed, Muneeb; Bardia, Amit; Talmor, Daniel; Matyal, Robina
Although real-time ultrasound guidance during central venous catheter insertion has become a standard of care, postinsertion chest radiograph remains the gold standard to confirm central venous catheter tip position and rule out associated lung complications like pneumothorax. We hypothesize that a combination of transthoracic echocardiography and lung ultrasound is noninferior to chest radiograph when used to accurately assess central venous catheter positioning and screen for pneumothorax. All operating rooms and surgical and trauma ICUs at the institution. Single-center, prospective noninferiority study. Patients receiving ultrasound-guided subclavian or internal jugular central venous catheters. During ultrasound-guided central venous catheter placement, correct positioning of central venous catheter was accomplished by real-time visualization of the guide wire and positive right atrial swirl sign using the subcostal four-chamber view. After insertion, pneumothorax was ruled out by the presence of lung sliding and seashore sign on M-mode. Data analysis was done for 137 patients. Chest radiograph ruled out pneumothorax in 137 of 137 patients (100%). Lung ultrasound was performed in 123 of 137 patients and successfully screened for pneumothorax in 123 of 123 (100%). Chest radiograph approximated accurate catheter tip position in 136 of 137 patients (99.3%). Adequate subcostal four-chamber views could not be obtained in 13 patients. Accurate positioning of central venous catheter with ultrasound was then confirmed in 121 of 124 patients (97.6%) as described previously. Transthoracic echocardiography and lung ultrasound are noninferior to chest x-ray for screening of pneumothorax and accurate central venous catheter positioning. Thus, the point of care use of ultrasound can reduce central venous catheter insertion to use time, exposure to radiation, and improve patient safety.
Hillyer, Grace Clarke; Jensen, Christopher D; Zhao, Wei K; Neugut, Alfred I; Lebwohl, Benjamin; Tiro, Jasmin A; Kushi, Lawrence H; Corley, Douglas A
For some patients, positive cancer screening test results can be a stressful experience that can affect future screening compliance and increase the use of health care services unrelated to medically indicated follow-up. Among 483,216 individuals aged 50 to 75 years who completed a fecal immunochemical test to screen for colorectal cancer at a large integrated health care setting between 2007 and 2011, the authors evaluated whether a positive test was associated with a net change in outpatient primary care visit use within the year after screening. Multivariable regression models were used to evaluate the relationship between test result group and net changes in primary care visits after fecal immunochemical testing. In the year after the fecal immunochemical test, use increased by 0.60 clinic visits for patients with true-positive results. The absolute change in visits was largest (3.00) among individuals with positive test results who were diagnosed with colorectal cancer, but significant small increases also were found for patients treated with polypectomy and who had no neoplasia (0.36) and those with a normal examination and no polypectomy performed (0.17). Groups of patients who demonstrated an increase in net visit use compared with the true-negative group included patients with true-positive results (odds ratio [OR], 1.60; 95% confidence interval [95% CI], 1.54-1.66), and positive groups with a colorectal cancer diagnosis (OR, 7.19; 95% CI, 6.12-8.44), polypectomy/no neoplasia (OR, 1.37; 95% CI, 1.27-1.48), and normal examination/no polypectomy (OR, 1.24; 95% CI, 1.18-1.30). Given the large size of outreach programs, these small changes can cumulatively generate thousands of excess visits and have a substantial impact on total health care use. Therefore, these changes should be included in colorectal cancer screening cost models and their causes investigated further. Cancer 2017;123:3744-3753. © 2017 American Cancer Society. © 2017 American Cancer Society.
Salerno, Jennifer; Darling-Fisher, Cindy; Hawkins, Nicole M.; Fraker, Elizabeth
Background: This article describes a school-wide sexually transmitted infection (STI) screening to identify adolescent high-risk sexual behaviors, STI history/incidence, and presence of chlamydia and gonorrhea, and examines relationships between high-risk behaviors and screening positive for chlamydia and gonorrhea in an alternative high school…
Full Text Available HIV-infected women are at increased risk for developing cervical cancer. Women living in resource-limited countries are especially at risk due to poor access to cervical cancer screening and treatment. We evaluated three cervical cancer screening methods to detect cervical intraepithelial neoplasia grade 2 and above (CIN 2+ in HIV-infected women in South Africa; Pap smear, visual inspection with 5% acetic acid (VIA and human papillomavirus detection (HPV.HIV-infected women aged 18-65 were recruited in Johannesburg. A cross-sectional study evaluating three screening methods for the detection of the histologically-defined gold standard CIN-2 + was performed. Women were screened for cervical abnormalities with the Digene HC2 assay (HPV, Pap smear and VIA. VIA was performed by clinic nurses, digital photographs taken and then later reviewed by specialist physicians. The sensitivity, specificity and predictive valves for CIN-2 + were calculated using maximum likelihood estimators.1,202 HIV-infected women participated, with a median age of 38 years and CD4 counts of 394 cells/mm(3. One third of women had a high grade lesion on cytology. VIA and HPV were positive in 45% and 61% of women respectively. Estimated sensitivity/specificity for HPV, Pap smear and VIA for CIN 2+ was 92%/51.4%, 75.8%/83.4% and 65.4/68.5% (nurse reading, respectively. Sensitivities were similar, and specificities appeared significantly lower for the HPV test, cytology and VIA among women with CD4 counts ≤200 cells/mm(3 as compared to CD4 counts >350 cells/mm(3.Although HPV was the most sensitive screening method for detecting CIN 2+, it was less specific than conventional cytology and VIA with digital imaging review. Screening programs may need to be individualized in context of the resources and capacity in each area.
Nightingale, Julie M.; Borgen, Rita; Porter-Bennett, Lisa; Szczepura, Katy
Introduction: Women attending breast screening may have suspicious mammographic findings that are subsequently found at assessment clinic to be normal (false positive, FP). A false positive diagnosis is not harmless, with short and long term negative psychosocial consequences reported. Women are at increased relative risk of breast cancer therefore their attendance at subsequent screening is essential. Aims: To assess the impact of FP breast screening diagnosis and diagnostic work-up on re-attendance rates across four consecutive screening rounds at a typical breast screening centre. Method: Diagnostic interventions and screening re-attendance rates at one prior and two consecutive rounds were analysed for women receiving an FP diagnosis between 2004 and 2006. Results: 397 women (5.57%) were referred for further assessment, including 228 (57.43%) false positives. 34 eligible women failed to re-attend routine screening (+3 years), with 17 failing to re-attend subsequently (+6 years). 70.6% (24/34) of non-attenders had attended at least two screening rounds prior to FP assessment. 75% of FP women had an imaging-only assessment with 17.5% (30/171) failing to re-attend, and 25% received a biopsy, with 7% (4/57) failing to re-attend subsequently. Conclusion: This study is unique as it follows FP women through four consecutive screening rounds. FP non-attendance rates were considerably lower compared to the general screening population, with diagnostic work-up having limited influence. FP non-attendance may appear insignificant in comparison to total screened population, but these women are at greater risk of subsequent cancer so should be actively encouraged to re-engage with the screening programme
... Our Sponsors Ages & Stages Ages & Stages Ages and Stages Prenatal Baby (0-12 mos.) Toddler 1-3yrs. Preschool 3-5yrs Grade School 5-12yrs. Teen 12- ... the Word Shop AAP Find a Pediatrician Ages & Stages Prenatal Baby Bathing ... Teen Young Adult Healthy Children > Ages & Stages > ...
Djeddi, Djamal; Cantin, Danny; Samson, Nathalie; Tian, Hao; Praud, Jean-Paul
It is presently recommended that oral feeding be started in premature infants as soon as possible, often at an age at which nasal continuous positive airway pressure (nCPAP) is still required for ventilatory support. Our previous data showed that application of nCPAP up to 10 cmH2O in full-term lambs had no deleterious effect on cardiorespiratory safety, feeding efficiency, or on nutritive swallowing-breathing coordination. Besides fear of swallowing-breathing coordination disturbances, esophageal motility disruption by nCPAP could be a reason to delay oral feeding. To our knowledge, no study has focused on the effects of nCPAP on esophageal motility in the neonatal period. The aim of the present study was therefore to further assess the effects of nCPAP on oral feeding by assessing its effects on the esophageal phase of nutritive swallowing (nutritive esophagodeglutition). Six full-term lambs, ages 2 to 3 days, underwent esophageal multichannel intraluminal impedance-pH monitoring. Lambs were bottle-fed under 2 randomized conditions, namely spontaneous breathing and nCPAP 6 cmH(2)O. Beyond confirmation of unaltered feeding efficiency, analysis of multiple variables measured by impedance monitoring revealed that nCPAP 6 does not alter nutritive esophagodeglutition in any way (nCPAP vs spontaneous breathing, P > 0.1 for all variables). offering further support to neonatologists pleading for initiation of oral feeding in infants still on nCPAP, the present results set the foundations for similar clinical studies in preterm human infants to confirm the absence of effects of nCPAP on nutritive swallowing.
Forum T. Shah
Full Text Available Until recently, maternal serum analyte levels paired with sonographic fetal nuchal translucency measurement was the most accurate prenatal screen available for Trisomies 18 and 21, (91% and 94% detection and false positive rates of 0.31% and 4.5% respectively. Women with positive California Prenatal Screening Program (CPSP results have the option of diagnostic testing to determine definitively if the fetus has a chromosomal abnormality. Cell-free fetal (cff- DNA screening for Trisomies 13, 18, and 21 was first offered in 2012, allowing women with positive screens to choose additional screening before diagnostic testing. Cff-DNA sensitivity rates are as high as 99.9% and 99.1%, with false positive rates of 0.4% and 0.1%, for Trisomies 18 and 21, respectively. A retrospective chart review was performed in 2012 on 500 CPSP referrals at the University of California, San Diego Thornton Hospital. Data were collected prior to and after the introduction of cff-DNA. There was a significant increase in the number of participants who chose to pursue additional testing and a decrease in the number of invasive procedures performed after cff-DNA screening was available. We conclude that as fetal aneuploidy screening improves, the number of invasive procedures will continue to decrease.
Full Text Available Colorectal cancer is a leading cause of death and the third most common cancer in Canada. Evidence suggests that screening can reduce mortality rates and the cost effectiveness of a program compares favourably with initiatives for breast and cervical cancer. The objectives of the Association des gastro-entérologues du Québec Task Force were to determine the need for a policy on screening for colorectal cancer in Quebec, to evaluate the testing methods available and to propose one or more of these alternatives as part of a formal screening program, if indicated. Fecal occult blood testing (FOBT, endoscopy (including sigmoidoscopy and colonoscopy, barium enema and virtual colonoscopy were considered. Although most clinical efficacy data are available for FOBT and sigmoidoscopy, there are limitations to programs based on these strategies. FOBT has a high false positive rate and a low detection yield, and even a combination of these strategies will miss 24% of cancers. Colonoscopy is the best strategy to both detect and remove polyps and to diagnose colorectal cancer, with double contrast barium enema also being a sensitive detection method. The Task Force recommended the establishment, in Quebec, of a screening program with five- to 10-yearly double contrast barium enema or 10-yearly colonoscopy for individuals aged 50 years or older at low risk. The program should include outcome monitoring, public and professional education to increase awareness and promote compliance, and central coordination with other provincial programs. The program should be evaluated; specific billing codes for screening for colorectal cancer would help facilitate this. Formal feasibility, effectiveness and cost-effectiveness studies in Quebec are now warranted.
Goossens, Mathijs C; De Brabander, Isabel; De Greve, Jacques; Vaes, Evelien; Van Ongeval, Chantal; Van Herck, Koen; Kellen, Eliane
A small number of studies have investigated breast cancer (BC) risk among women with a history of false-positive recall (FPR) in BC screening, but none of them has used time-to-event analysis while at the same time quantifying the effect of false-negative diagnostic assessment (FNDA). FNDA occurs when screening detects BC, but this BC is missed on diagnostic assessment (DA). As a result of FNDA, screenings that detected cancer are incorrectly classified as FPR. Our study linked data recorded in the Flemish BC screening program (women aged 50-69 years) to data from the national cancer registry. We used Cox proportional hazards models on a retrospective cohort of 298 738 women to assess the association between FPR and subsequent BC, while adjusting for potential confounders. The mean follow-up was 6.9 years. Compared with women without recall, women with a history of FPR were at an increased risk of developing BC [hazard ratio=2.10 (95% confidence interval: 1.92-2.31)]. However, 22% of BC after FPR was due to FNDA. The hazard ratio dropped to 1.69 (95% confidence interval: 1.52-1.87) when FNDA was excluded. Women with FPR have a subsequently increased BC risk compared with women without recall. The risk is higher for women who have a FPR BI-RADS 4 or 5 compared with FPR BI-RADS 3. There is room for improvement of diagnostic assessment: 41% of the excess risk is explained by FNDA after baseline screening.
Kurczab, Rafał; Bojarski, Andrzej J
The machine learning-based virtual screening of molecular databases is a commonly used approach to identify hits. However, many aspects associated with training predictive models can influence the final performance and, consequently, the number of hits found. Thus, we performed a systematic study of the simultaneous influence of the proportion of negatives to positives in the testing set, the size of screening databases and the type of molecular representations on the effectiveness of classification. The results obtained for eight protein targets, five machine learning algorithms (SMO, Naïve Bayes, Ibk, J48 and Random Forest), two types of molecular fingerprints (MACCS and CDK FP) and eight screening databases with different numbers of molecules confirmed our previous findings that increases in the ratio of negative to positive training instances greatly influenced most of the investigated parameters of the ML methods in simulated virtual screening experiments. However, the performance of screening was shown to also be highly dependent on the molecular library dimension. Generally, with the increasing size of the screened database, the optimal training ratio also increased, and this ratio can be rationalized using the proposed cost-effectiveness threshold approach. To increase the performance of machine learning-based virtual screening, the training set should be constructed in a way that considers the size of the screening database.
Full Text Available In up to 5% of pregnancies, ultrasound screening detects a "soft marker" (SM that places the foetus at risk for a severe abnormality. In most cases, prenatal diagnostic work-up rules out a severe defect. We aimed to study the effects of false positive SM on maternal emotional status, maternal representations of the infant, and mother-infant interaction.Utilizing an extreme-case prospective case control design, we selected from a group of 244 women undergoing ultrasound, 19 pregnant women whose foetus had a positive SM screening and a reassuring diagnostic work up, and 19 controls without SM matched for age and education. In the third trimester of pregnancy, within one week after delivery, and 2 months postpartum, we assessed anxiety, depression, and maternal representations. Mother-infant interactions were videotaped during feeding within one week after delivery and again at 2 months postpartum and coded blindly using the Coding Interactive Behavior (CIB scales. Anxiety and depression scores were significantly higher at all assessment points in the SM group. Maternal representations were also different between SM and control groups at all study time. Perturbations to early mother-infant interactions were observed in the SM group. These dyads showed greater dysregulation, lower maternal sensitivity, higher maternal intrusive behaviour and higher infant avoidance. Multivariate analysis showed that maternal representation and depression at third trimester predicted mother-infant interaction.False positive ultrasound screenings for SM are not benign and negatively affect the developing maternal-infant attachment. Medical efforts should be directed to minimize as much as possible such false diagnoses, and to limit their psychological adverse consequences.
This Sixth volume in the series The Key Debates. Mutations and Appropriations in European Film Studies investigates the question of screens in the context both of the dematerialization due to digitalization and the multiplication of media screens. Scholars offer various infomations and theories of topics such as the archeology of screen, film and media theories, contemporary art, pragmatics of new ways of screening (from home video to street screening).
Hur, Chin; Tramontano, Angela C; Dowling, Emily C; Brooks, Gabriel A; Jeon, Alvin; Brugge, William R; Gazelle, G Scott; Kong, Chung Yin; Pandharipande, Pari V
Pancreatic ductal adenocarcinoma (PDAC) has not experienced a meaningful mortality improvement for the past few decades. Successful screening is difficult to accomplish because most PDACs present late in their natural history, and current interventions have not provided significant benefit. Our goal was to identify determinants of survival for early PDAC to help inform future screening strategies. Early PDACs from the National Cancer Institute's Surveillance, Epidemiology, and End Results Program database (2000-2010) were analyzed. We stratified by size and included carcinomas in situ (Tis). Overall cancer-specific survival was calculated. A Cox proportional hazards model was developed and the significance of key covariates for survival prediction was evaluated. A Kaplan-Meier plot demonstrated significant differences in survival by size at diagnosis; these survival benefits persisted after adjustment for key covariates in the Cox proportional hazards analysis. In addition, relatively weaker predictors of worse survival included older age, male sex, black race, nodal involvement, tumor location within the head of the pancreas, and no surgery or radiotherapy. For early PDAC, we found tumor size to be the strongest predictor of survival, even after adjustment for other patient characteristics. Our findings suggest that early PDAC detection can have clinical benefit, which has positive implications for future screening strategies.
... Biliary atresia Bili lights Bilirubin blood test Bilirubin encephalopathy Exchange transfusion Jaundice and breastfeeding Newborn jaundice Premature infant Rh incompatibility Patient Instructions Newborn ...
Guertin, Marie-Hélène; Théberge, Isabelle; Zomahoun, Hervé Tchala Vignon; Dufresne, Michel-Pierre; Pelletier, Éric; Brisson, Jacques
The study sought to determine if mammography quality is associated with the false positive (FP) rate in the Quebec breast cancer screening program in 2004 and 2005. Mammography quality of a random sample of screen-film mammograms was evaluated by an expert radiologist following the criteria of the Canadian Association of Radiologists. For each screening examination, scores ranging from 1 (poor quality) to 5 (excellent quality) were attributed for positioning, compression, contrast, exposure level, sharpness, and artifacts. A final overall quality score (lower or higher) was also given. Poisson regression models with robust estimation of variance and adjusted for potential confounding factors were used to assess associations of mammography quality with the FP rate. Among 1,209 women without cancer, there were 104 (8.6%) FPs. Lower overall mammography quality is associated with an increase in the FP rate (risk ratio [RR], 1.4; 95% confidence interval [CI], 1.0-2.1; P = .07) but this increase was not statistically significant. Artifacts were associated with an increase in the FP rate (RR, 2.1; 95% CI, 1.3-3.3; P = .01) whereas lower quality of exposure level was related to a reduction of the FP rate (RR, 0.4; 95% CI, 0.1-1.0; P = .01). Lower quality scores for all other quality attributes were related to a nonstatistically significant increase in the FP rate of 10%-30%. Artifacts can have a substantial effect on the FP rate. The effect of overall mammography quality on the FP rate may also be substantial and needs to be clarified. Copyright © 2017 Canadian Association of Radiologists. Published by Elsevier Inc. All rights reserved.
Mordang, Jan-Jurre; Gubern-Merida, Albert; Bria, Alessandro; Tortorella, Francesco; den Heeten, Gerard; Karssemeijer, Nico
Purpose: Computer-aided detection (CADe) systems for mammography screening still mark many false positives. This can cause radiologists to lose confidence in CADe, especially when many false positives are obviously not suspicious to them. In this study, we focus on obvious false positives generated
Mordang, J.J.; Gubern Merida, A.; Bria, A.; Tortorella, F.; Heeten, G.; Karssemeijer, N.
PURPOSE: Computer-aided detection (CADe) systems for mammography screening still mark many false positives. This can cause radiologists to lose confidence in CADe, especially when many false positives are obviously not suspicious to them. In this study, we focus on obvious false positives generated
Pimperton, Hannah; Kreppner, Jana; Mahon, Merle; Stevenson, Jim; Terlektsi, Emmanouela; Worsfold, Sarah; Yuen, Ho Ming; Kennedy, Colin R
This study aimed to examine whether (a) exposure to universal newborn hearing screening (UNHS) and b) early confirmation of hearing loss were associated with benefits to expressive and receptive language outcomes in the teenage years for a cohort of spoken language users. It also aimed to determine whether either of these two variables was associated with benefits to relative language gain from middle childhood to adolescence within this cohort. The participants were drawn from a prospective cohort study of a population sample of children with bilateral permanent childhood hearing loss, who varied in their exposure to UNHS and who had previously had their language skills assessed at 6-10 years. Sixty deaf or hard of hearing teenagers who were spoken language users and a comparison group of 38 teenagers with normal hearing completed standardized measures of their receptive and expressive language ability at 13-19 years. Teenagers exposed to UNHS did not show significantly better expressive (adjusted mean difference, 0.40; 95% confidence interval [CI], -0.26 to 1.05; d = 0.32) or receptive (adjusted mean difference, 0.68; 95% CI, -0.56 to 1.93; d = 0.28) language skills than those who were not. Those who had their hearing loss confirmed by 9 months of age did not show significantly better expressive (adjusted mean difference, 0.43; 95% CI, -0.20 to 1.05; d = 0.35) or receptive (adjusted mean difference, 0.95; 95% CI, -0.22 to 2.11; d = 0.42) language skills than those who had it confirmed later. In all cases, effect sizes were of small size and in favor of those exposed to UNHS or confirmed by 9 months. Subgroup analysis indicated larger beneficial effects of early confirmation for those deaf or hard of hearing teenagers without cochlear implants (N = 48; 80% of the sample), and these benefits were significant in the case of receptive language outcomes (adjusted mean difference, 1.55; 95% CI, 0.38 to 2.71; d = 0.78). Exposure to UNHS did not account for significant
Screening, mammografiscreening, psykosociale konsekvenser, falsk positiv screeningssvar, psykometri, differentiel item funktion......Screening, mammografiscreening, psykosociale konsekvenser, falsk positiv screeningssvar, psykometri, differentiel item funktion...
Heller, R; Fernando, I; MacDougall, M
This retrospective study assessed whether Quality Improvement Scotland national standards for the sexual health care offered to HIV-positive individuals are being met by the Edinburgh genitourinary (GU) medicine clinic; specifically whether HIV-positive patients are offered: (a) sexually transmitted infection (STI) screening annually and (b) syphilis testing six-monthly. The study also reviewed what factors were associated with a clinician's offer of STI screening and syphilis testing. Of the 509 patients seen within the study period, case notes documented that 64% were offered STI screens, and 69% were offered syphilis testing, results consistent with audits of services elsewhere. Sexual orientation (P offer of STI screening, while gender (P offer of syphilis testing. Our results suggest that one explanation for clinicians failing to offer STI screens and syphilis serology testing is their (implicit) risk assessment that STI testing is not required in individual patients.
Kátia de Feitas Alvarenga
Full Text Available OBJETIVO: Analisar os motivos da evasão familiar no programa de triagem auditiva neonatal realizado em um hospital público e correlacioná-los com a distribuição demográfica das famílias e as características do programa. MÉTODOS: Participaram 132 famílias, de um total de 739 contatadas, cujos filhos nasceram em uma maternidade no interior do estado de São Paulo de outubro/2003 a dezembro/2005 e que não haviam comparecido para a realização do teste ou reteste da triagem auditiva neonatal. Foi aplicado um questionário de levantamento das causas de evasão, contendo perguntas relacionadas à triagem auditiva, nível de escolaridade e profissão dos pais e também sobre a audição e o desenvolvimento de linguagem da criança. RESULTADOS: Realizou-se a aplicação do questionário com 132 famílias (17,86%; com as demais não foi obtido contato. Deste total, 82 haviam faltado na primeira etapa da triagem auditiva (teste e 50 não haviam retornado para realização do reteste. Os motivos mais frequentes para justificar a evasão foram o desinteresse e a dificuldade em conciliar o agendamento com a rotina familiar. Não houve associação entre os motivos da evasão e o nível de escolaridade e ocupação dos pais, nem com o profissional que realizou a orientação acerca da triagem auditiva. Não foi referido nenhum caso de alteração auditiva, nem de atraso significativo no desenvolvimento da linguagem. CONCLUSÃO: Os motivos da evasão familiar independem de variáveis voltadas à família e à dinâmica do programa de triagem auditiva.PURPOSE: To analyze the reasons for evasion of the families from the newborn hearing screening program conducted at a public hospital, and to correlate them with the demographic distribution of the families and the characteristics of the program. METHODS: Participants were 132 families, from a total of 739 contacted, whose children had been born in a maternity hospital in the interior of the state of
Arndt, Torsten; Grüner, Joachim; Schröfel, Stefanie; Stemmerich, Karsten
Urine ethyl glucuronide (EtG) is considered as a specific marker of recent ethanol consumption. We describe false-positive DRI(®) EIA EtG enzyme immunoassay results caused by propyl glucuronides in urine after using a propanol-based hand sanitizer. EtG screening was done with the DRI(®) EIA EtG assay (Microgenics), using a cut-off of 0.5 mg/L as recommended by the manufacturer and of 0.1 mg/L as demanded by the German Regulations for Reissuing Drivers Licenses. Confirmatory EtG analysis was done with the ClinMass(®) EtG LC-MS/MS testkit (Recipe), extended by the mass transitions 235.1→75.1, 235.1→85.1, and 235.1→113.1 for the detection of the 1- and 2-propyl glucuronides. Self-experiments were done by staff members of our lab (n=7), using 3 mL Sterillium(®) Classic Pure (30 g/100 g 1-propanol and 45 g/100 g 2-propanol) for hand sanitation every quarter of an hour for 8 h according to DIN EN 1500:2011-05 with and without an exhauster and by passive inhalation of the sanitizer vapor. Spot urine samples were taken immediately before and up to 24 h after the first sanitizer use. False-positive immunoassay results of up to 4 mg/L or 2.3 mg/g creatinine were obtained after normal use of the sanitizer and also after passive inhalation of the sanitizer vapor (up to 0.89 mg/L or 0.61 mg/g). Immunoassay results were positive even after 4-fold use of the sanitizer (up to 0.14 mg/L or 0.38 mg/g) and up to 6 h after the last sanitizer contact (maximum 0.63 mg/L and 0.33 mg/g for sanitizer users and 0.25 mg/g after passive inhalation). Spiking of EtG-free urine with 1-propyl glucuronide (Athena Environmental Sciences) between 0.05 and 10 mg/L clearly demonstrated a cross reaction of the immunoassay of approx. 10% as compared to EtG. LC-MS/MS of urines with a positive immunoassay EtG result did not show EtG signals, but distinct signals of 1-propyl glucuronide (n-propyl glucuronide) and 2-propyl glucuronide (iso-propyl glucuronide). An exhauster effectively prevented
Araujo, Manuel; Golpe, Sandra; Braña, Teresa; Varela, Jesús; Rial, Antonio
Early detection of alcohol and drug abuse among adolescents is decisive not only for rapid referral and intervention in cases of risk, but also as an indicator for use in the evaluation of prevention programs and public policies to reduce consumption. One of the most widely-used screening instruments in the world is the Problem Oriented Screening Instrument for Teenagers (POSIT) (Rahdert, 1991), whose substance use and abuse subscale (POSITUAS) is a brief tool of enormous applied potential. However, there is still no empirical validation study that would ensure its good psychometric performance in Spain. The aim of this paper is to analyse the psychometric properties of POSITUAS among Spanish adolescents. For this purpose, 569 students aged between 12 and 18 years (M = 14.71; SD = 1.79) were personally interviewed. The study sample was selected through two-stage sampling. The results obtained, using the Adolescent Diagnostic Interview (Winters & Henly, 1993) as the gold criterion, allow us to inform that the Spanish version of the POSITUAS has excellent psychometric behaviour, both at the level of internal consistency (a = .82) as well as regards sensitivity (94.3%) and specificity (83.9%), with an area under the ROC curve of .953. Also, the realisation of a Confirmatory Factor Analysis allows for verifying the one-dimensional character of the scale. As a result, POSITUAS is made available to researchers and professionals in the field of addictive behaviours for use with a minimum of psychometric guarantees.
Aro, A R; Pilvikki Absetz, S; van Elderen, T M
-ups at 2 and 12 months postscreening. At 2 months, there was a moderate multivariate effect of group on distress; and intrusive thinking and worry about breast cancer, in particular, were most frequent amongst the false positives. Intrusive thinking still prevailed at 12 months, in addition to a higher...... findings (n=1407), false-positive findings (n=492) and referents from outside the screening programme (n=1718, age 48-49 years). Distress was measured as illness worry, anxiety, depression, cancer beliefs and early detection behaviour. Measurements were one month before screening invitation with follow...... perceived breast cancer risk and susceptibility. Distress related to screening and false-positive findings seems to be moderate, but prevailing cancer-specific concerns call for improvements in screening programmes....
Clark, Melissa A; Gorelick, Jeremy J; Sicks, JoRean D; Park, Elyse R; Graham, Amanda L; Abrams, David B; Gareen, Ilana F
Lung screening is an opportunity for smoking cessation and relapse prevention, but smoking behaviors may differ across screening results. Changes in smoking were evaluated among 18 840 current and former smokers aged 55-74 scheduled to receive three annual lung screenings. Participants were randomized to low-dose computed tomography or single-view chest radiography in the American College of Radiology/National Lung Screening Trial. Outcome measures included point and sustained (6-month) abstinence and motivation to quit among smokers; and relapse among smokers who quit during follow-up, recent quitters (quit < 6 months), and long-term former smokers (quit ≥ 6 months). During five years of follow-up, annual point prevalence quit rates ranged from 11.6%-13.4%; 48% of current smokers reported a quit attempt and 7% of long-term former smokers relapsed. Any false positive screening result was associated with subsequent increased point (multivariable hazard ratio HR = 1.23, 95% CI = 1.13, 1.35) and sustained (HR = 1.28, 95% CI = 1.15, 1.43) abstinence among smokers. Recent quitters with ≥1 false positive screen were less likely to relapse (HR = 0.72, 95% CI = 0.54, 0.96). Screening result was not associated with relapse among long-term former smokers or among baseline smokers who quit during follow-up. A false positive screen was associated with increased smoking cessation and less relapse among recent quitters. Consistently negative screens were not associated with greater relapse among long-term former smokers. Given the Affordable Care Act requires most health plans to cover smoking cessation and lung screening, the impact and cost-effectiveness of lung screening could be further enhanced with the addition of smoking cessation interventions. © The Author 2015. Published by Oxford University Press on behalf of the Society for Research on Nicotine and Tobacco. All rights reserved. For permissions, please e-mail: firstname.lastname@example.org.
Rodkjaer, Lotte; Laursen, Tinne; Christensen, Nils B
demonstrated a decline in depression scores over time and an association between the risk of depression and low medication adherence, stress and unsafe sex. We recommend routine screening for depression to be conducted regularly to provide full evaluations and relevant psychiatric treatment.......Background: The aim of this study was to follow a cohort of HIV-positive individuals for 3 years in order to assess changes in depression, adherence, unsafe sex and emotional strains from living with HIV. Methods: Participants were assessed for depression, adherence, emotional strain and unsafe sex......) in 24 (16%) individuals. Patients at risk of moderate to major depression were more likely to be non-adherent to medications, to practice unsafe sex and to suffer from emotional strains compared with patients not at risk of depression, both at baseline (2005) and follow-up (2008). Conclusion: This study...
Stegeman, Inge; de Wijkerslooth, Thomas R.; Stoop, Esther M.; van Leerdam, Monique; van Ballegooijen, M.; Kraaijenhagen, Roderik A.; Fockens, Paul; Kuipers, Ernst J.; Dekker, Evelien; Bossuyt, Patrick M.
Differences in the risk of a false negative or a false positive fecal immunochemical test (FIT) across subgroups may affect optimal screening strategies. We evaluate whether subgroups are at increased risk of a false positive or a false negative FIT result, whether such variability in risk is
Bilal, M.; Saleem, M.; Bial, Maria; Khan, Saranjam; Ullah, Rahat; Ali, Hina; Ahmed, M.; Ikram, Masroor
A quantitative analysis for the screening of immunoglobulin-G (IgG) positive human sera samples is presented for the dengue virus infection. The regression model was developed using 79 samples while 20 samples were used to test the performance of the model. The R-square (r 2) value of 0.91 was found through a leave-one-sample-out cross validation method, which shows the validity of this model. This model incorporates the molecular changes associated with IgG. Molecular analysis based on regression coefficients revealed that myristic acid, coenzyme-A, alanine, arabinose, arginine, vitamin C, carotene, fumarate, galactosamine, glutamate, lactic acid, stearic acid, tryptophan and vaccenic acid are positively correlated with IgG; while amide III, collagen, proteins, fatty acids, phospholipids and fucose are negatively correlated. For blindly tested samples, an excellent agreement has been found between the model predicted, and the clinical values of IgG. The parameters, which include sensitivity, specificity, accuracy and the area under the receiver operator characteristic curve, are found to be 100%, 83.3%, 95% and 0.99, respectively, which confirms the high quality of the model.
Wisner, Katherine L; Sit, Dorothy K Y; McShea, Mary C; Rizzo, David M; Zoretich, Rebecca A; Hughes, Carolyn L; Eng, Heather F; Luther, James F; Wisniewski, Stephen R; Costantino, Michelle L; Confer, Andrea L; Moses-Kolko, Eydie L; Famy, Christopher S; Hanusa, Barbara H
The period prevalence of depression among women is 21.9% during the first postpartum year; however, questions remain about the value of screening for depression. To screen for depression in postpartum women and evaluate positive screen findings to determine the timing of episode onset, rate and intensity of self-harm ideation, and primary and secondary DSM-IV disorders to inform treatment and policy decisions. Sequential case series of women who recently gave birth. Urban academic women's hospital. During the maternity hospitalization, women were offered screening at 4 to 6 weeks post partum by telephone. Screen-positive women were invited to undergo psychiatric evaluations in their homes. A positive screen finding was an Edinburgh Postnatal Depression Scale (EPDS) score of 10 or higher. Self-harm ideation was assessed on EPDS item 10: "The thought of harming myself has occurred to me" (yes, quite often; sometimes; hardly ever; never). Screen-positive women underwent evaluation with the Structured Clinical Interview for DSM-IV for Axis I primary and secondary diagnoses. Ten thousand mothers underwent screening, with positive findings in 1396 (14.0%); of these, 826 (59.2%) completed the home visits and 147 (10.5%) completed a telephone diagnostic interview. Screen-positive women were more likely to be younger, African American, publicly insured, single, and less well educated. More episodes began post partum (40.1%), followed by during pregnancy (33.4%) and before pregnancy (26.5%). In this population, 19.3% had self-harm ideation. All mothers with the highest intensity of self-harm ideation were identified with the EPDS score of 10 or higher. The most common primary diagnoses were unipolar depressive disorders (68.5%), and almost two-thirds had comorbid anxiety disorders. A striking 22.6% had bipolar disorders. The most common diagnosis in screen-positive women was major depressive disorder with comorbid generalized anxiety disorder. Strategies to differentiate
Wisner, Katherine L.; Sit, Dorothy K. Y.; McShea, Mary C.; Rizzo, David M.; Zoretich, Rebecca A.; Hughes, Carolyn L.; Eng, Heather F.; Luther, James F.; Wisniewski, Stephen R.; Costantino, Michelle L.; Confer, Andrea L.; Moses-Kolko, Eyclie L.; Famy, Christopher S.; Hanusa, Barbara H.
Importance The period prevalence of depression among women is 21.9% during the first postpartum year; however, questions remain about the value of screening for depression. Objectives To screen for depression in postpartum women and evaluate positive screen findings to determine the timing of episode onset, rate and intensity of self-harm ideation, and primary and secondary DSM-IV disorders to inform treatment and policy decisions. Design Sequential case series of women who recently gave birth. Setting Urban academic women’s hospital. Participants During the maternity hospitalization, women were offered screening at 4 to 6 weeks post parturn by telephone. Screen-positive women were invited to undergo psychiatric evaluations in their homes. Main Outcomes and Measures A positive screen finding was an Edinburgh Postnatal Depression Scale (EPDS) score of 10 or higher. Self-harm ideation was assessed on EPDS item 10: “The thought of harming myself has occurred to me” (yes, quite often; sometimes; hardly ever; never). Screen-positive women underwent evaluation with the Structured Clinical Interview for DSM-IV for Axis I primary and secondary diagnoses. Results Ten thousand mothers underwent screening, with positive findings in 1396 (14.0%); of these, 826 (59.2%) completed the home visits and 147 (10.5%) completed a telephone diagnostic interview. Screen-positive women were more likely to be younger, African American, publicly insured, single, and less well educated. More episodes began post partum (40.1%), followed by during pregnancy (33.4%) and before pregnancy (26.5%). In this population, 19.3% had self-harm ideation. All mothers with the highest intensity of self-harm ideation were identified with the EPDS score of 10 or higher. The most common primary diagnoses were unipolar depressive disorders (68.5%), and almost two-thirds had co-morbid anxiety disorders. A striking 22.6% had bipolar disorders. Conclusions and Relevance The most common diagnosis in screen-positive
Schreutelkamp, J.L.; Kwee, R.M.; Booij, M. de; Adriaensen, M.E.A.P.M.
Introduction: According to current Dutch guidelines, all women with a positive screening mammogram are referred for a full hospital assessment, which includes surgical consultation and radiological assessment. Surgical consultation may be unnecessary for many patients. Our objective was to determine how often surgical consultations can be avoided by radiological pre-assessment. Materials and methods: All women with a positive screening mammogram, referred to our radiology department between 2002 and 2007, were included (n = 1014). Percentage of women that was downstaged to BI-RADS category 1 or 2 by radiological pre-assessment was calculated. Negative predictive value (NPV) for malignancy was estimated from the in-hospital follow-up, which was available up to September 2012. Results: 423 of 1014 women (42%) were downstaged to BI-RADS category 1 or 2 by radiological pre-assessment. During follow-up, 8 of these 423 women (2%) developed a malignancy in the same breast. At least 6 of these malignancies were located at a different location as the original screening findings which led to the initial referral. The estimated NPV for malignancy was 99.5% (95%CI, 98.3–99.9). Conclusion: By referring women with a positive screening mammogram to the radiology department for pre-assessment, a surgical consultation was avoided in 42%, with an estimated NPV of 99.5% for malignancy
Cohen, Daniel N; Johnson, Mary S; Liang, Wayne H; McDaniel, Heather L; Young, Pampee P
RhIG is used worldwide to reduce the incidence of alloimmunization to D during pregnancy. We report a case of clinically significant neonatal hemolysis mediated by maternally administered RhIG. A 25-year-old, O-, primigravid mother with a negative antenatal antibody screen delivered a 6-lb 4-oz, blood group A, D+ baby girl at 36.5 weeks' gestation. Prenatal care included a dose of intramuscular RhIG at 28 weeks' gestation. At delivery, the newborn was markedly jaundiced with a total bilirubin of 6.3 mg/dL, which reached more than 20 mg/dL after 6 days. The newborn's lactate dehydrogenase (LDH) was 485 U/L (normal, newborn's direct antiglobulin test (DAT) was positive for immunoglobulin (Ig)G, with an anti-D identified by elution studies. The possibility of hemolytic disease of the newborn (HDN) due to anti-A was considered, but ultimately ruled out by the absence of anti-A1 in the eluate. The newborn's hyperbilirubinemia was adequately managed with phototherapy. Analysis of the mother's plasma 10 days postpartum revealed an anti-D titer of 8. Two months after birth, the child's laboratory studies, DAT, antibody screen, and peripheral smear were unremarkable. In the context of neonatal anemia, elevated LDH, and reticulocytosis, a positive IgG DAT with anti-D identified in the eluate suggests RhIG-mediated HDN. This appears to be a rarely reported event. © 2014 AABB.
Rebolj, M; Lynge, E
with follow-up in HPV-positive women and relative >/=CIN3 detection was 0.48 (P=0.33).Conclusion:There is at present scant evidence to support the view that the measured sensitivity of HPV screening is a simple reflection of compliance with follow-up. Adjustment of measured cervical intraepithelial neoplasia......Background:It has been suggested that adjustment for incomplete compliance with follow-up in women with positive human papillomavirus (HPV) tests would be appropriate for estimating the true sensitivity of cervical screening with HPV testing. We assessed the compliance and its impact on >/=CIN3...
Ashleigh R Tuite
Full Text Available Syphilis co-infection risk has increased substantially among HIV-infected men who have sex with men (MSM. Frequent screening for syphilis and treatment of men who test positive might be a practical means of controlling the risk of infection and disease sequelae in this population.We evaluated the cost-effectiveness of strategies that increased the frequency and population coverage of syphilis screening in HIV-infected MSM receiving HIV care, relative to current standard of care.We developed a state-transition microsimulation model of syphilis natural history and medical care in HIV-infected MSM receiving care for HIV. We performed Monte Carlo simulations using input data derived from a large observational cohort in Ontario, Canada, and from published biomedical literature. Simulations compared usual care (57% of the population screened annually to different combinations of more frequent (3- or 6-monthly screening and higher coverage (100% screened. We estimated expected disease-specific outcomes, quality-adjusted survival, costs, and cost-effectiveness associated with each strategy from the perspective of a public health care payer.Usual care was more costly and less effective than strategies with more frequent or higher coverage screening. Higher coverage strategies (with screening frequency of 3 or 6 months were expected to be cost-effective based on usually cited willingness-to-pay thresholds. These findings were robust in the face of probabilistic sensitivity analyses, alternate cost-effectiveness thresholds, and alternate assumptions about duration of risk, program characteristics, and management of underlying HIV.We project that higher coverage and more frequent syphilis screening of HIV-infected MSM would be a highly cost-effective health intervention, with many potentially viable screening strategies projected to both save costs and improve health when compared to usual care. The baseline requirement for regular blood testing in this
Tuite, Ashleigh R.; Burchell, Ann N.; Fisman, David N.
Background Syphilis co-infection risk has increased substantially among HIV-infected men who have sex with men (MSM). Frequent screening for syphilis and treatment of men who test positive might be a practical means of controlling the risk of infection and disease sequelae in this population. Purpose We evaluated the cost-effectiveness of strategies that increased the frequency and population coverage of syphilis screening in HIV-infected MSM receiving HIV care, relative to current standard of care. Methods We developed a state-transition microsimulation model of syphilis natural history and medical care in HIV-infected MSM receiving care for HIV. We performed Monte Carlo simulations using input data derived from a large observational cohort in Ontario, Canada, and from published biomedical literature. Simulations compared usual care (57% of the population screened annually) to different combinations of more frequent (3- or 6-monthly) screening and higher coverage (100% screened). We estimated expected disease-specific outcomes, quality-adjusted survival, costs, and cost-effectiveness associated with each strategy from the perspective of a public health care payer. Results Usual care was more costly and less effective than strategies with more frequent or higher coverage screening. Higher coverage strategies (with screening frequency of 3 or 6 months) were expected to be cost-effective based on usually cited willingness-to-pay thresholds. These findings were robust in the face of probabilistic sensitivity analyses, alternate cost-effectiveness thresholds, and alternate assumptions about duration of risk, program characteristics, and management of underlying HIV. Conclusions We project that higher coverage and more frequent syphilis screening of HIV-infected MSM would be a highly cost-effective health intervention, with many potentially viable screening strategies projected to both save costs and improve health when compared to usual care. The baseline requirement
... will fully satisfy your baby. Why Is Touch Important? Touch is very important to a newborn. With ... your baby react to soft lullabies or other music? Even if your child passed the newborn hearing ...
Zubizarreta Alberdi, Raquel; Llanes, Ana B.F.; Ortega, Raquel Almazan; Exposito, Ruben Roman; Collado, Jose M.V.; Oliveres, Xavier Castells; Queiro Verdes, Teresa; Natal Ramos, Carmen; Sanz, Maria Ederra; Salas Trejo, Dolores
To evaluate the effect of radiologist experience on the risk of false-positive results in population-based breast cancer screening programmes. We evaluated 1,440,384 single-read screening mammograms, corresponding to 471,112 women aged 45-69 years participating in four Spanish programmes between 1990 and 2006. The mammograms were interpreted by 72 radiologists. The overall percentage of false-positive results was 5.85% and that for false-positives resulting in an invasive procedure was 0.38%. Both the risk of false-positives overall and of false-positives leading to an invasive procedure significantly decreased (p 14,999 mammograms with respect to the reference category (<500). The risk of both categories of false-positives was also significantly reduced (p < 0.001) as radiologists' years of experience increased: OR 0.96 and OR 0.84, respectively, for 1 year's experience and OR 0.72 and OR 0.73, respectively, for more than 4 years' experience with regard to the category of <1 year's experience. Radiologist experience is a determining factor in the risk of a false-positive result in breast cancer screening. (orig.)
Petersen, Andrea K; Cheung, Sau Wai; Smith, Janice L; Bi, Weimin; Ward, Patricia A; Peacock, Sandra; Braxton, Alicia; Van Den Veyver, Ignatia B; Breman, Amy M
Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management. The objective of this study was to determine the positive predictive value and false-positive rates for different chromosomal abnormalities identified by cell-free fetal DNA screening using a large data set of diagnostic testing results on invasive samples submitted to the laboratory for confirmatory studies. We tested 712 patient samples sent to our laboratory to confirm a cell-free fetal DNA screening result, indicating high risk for a chromosome abnormality. We compiled data from all cases in which the indication for confirmatory testing was a positive cell-free fetal DNA screen, including the common trisomies, sex chromosomal aneuploidies, microdeletion syndromes, and other large genome-wide copy number abnormalities. Testing modalities included fluorescence in situ hybridization, G-banded karyotype, and/or chromosomal microarray analysis performed on chorionic villus samples, amniotic fluid, or postnatally obtained blood samples. Positive predictive values and false-positive rates were calculated from tabulated data. The positive predictive values for trisomy 13, 18, and 21 were consistent with previous reports at 45%, 76%, and 84%, respectively. For the microdeletion syndrome regions, positive predictive values ranged from 0% for detection of Cri-du-Chat syndrome and Prader-Willi/Angelman syndrome to 14% for 1p36 deletion
Thanh, Thuy Hoang Thi; Ngoc, Sy Dinh; Viet, Nhung Nguyen; van, Hung Nguyen; Horby, Peter; Cobelens, Frank G. J.; Wertheim, Heiman F. L.
Close contacts of tuberculosis (TB) patients are at increased risk of developing tuberculosis. Although passive contact screening guidelines are incorporated in the national TB control program, currently it is unknown how frequent close contacts are screened for TB in Vietnam. This study assesses
Riboni, G.; Serantoni, S.; De Simoni, M.; Bascape', P.; Facchini, R.; Pirovano, G.
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
Ballard, Elizabeth D; Horowitz, Lisa M; Jobes, David A; Wagner, Barry M; Pao, Maryland; Teach, Stephen J
Although validated suicide screening tools exist for use among children and adolescents presenting to emergency departments (EDs), the associations between screening positive for suicide risk and immediate psychiatric hospital admission or subsequent ED use, stratified by age, have not been examined. This is a retrospective cohort study of a consecutive case series of patients aged 8 to 18 years presenting with psychiatric chief complaints during a 9-month period to a single urban tertiary care pediatric ED. Eligible patients were administered a subset of questions from the Risk of Suicide Questionnaire. Outcomes included the odds of psychiatric hospitalization at the index visit and repeated ED visits for psychiatric complaints within the following year, stratified by age. Of the 568 patients presenting during the study period, responses to suicide screening questions were available for 442 patients (78%). A total of 159 (36%) of 442 were hospitalized and 130 (29%) of 442 had 1 or more ED visits within the following year. The proportion of patients providing positive responses to 1 or more suicide screening questions did not differ between patients aged 8 to 12 years and those aged 13 to 18 years (77/154 [50%] vs 137/288 [48%], P = 0.63). A positive response to 1 or more of the questions was significantly associated with increased odds of psychiatric hospitalization in the older age group [adjusted odds ratio, 3.82; 95% confidence interval, 2.24-6.54) and with repeated visits to the ED in the younger age group (adjusted odds ratio, 3.55 95% confidence interval, 1.68-7.50). Positive responses to suicide screening questions were associated with acute psychiatric hospitalization and repeated ED visits. Suicide screening in a pediatric ED may identify children and adolescents with increased need of psychiatric resources.
Conclusions: A small proportion of confirmed seroreactive donors in this sample had any recall of symptoms or treatment for yaws or syphilis. These data suggest that clinical questioning adds little further information to the current screening algorithm. The relative contribution of yaws and syphilis to frequent positive tests in endemic areas remains speculative.
Porcel, Jacqueline; Feigal, Christine; Poye, Laney; Postma, Ineke R.; Zeeman, Gerda G.; Olowoyeye, Abiola; Tsigas, Eleni; Wilson, Melissa
Objectives: Hypertensive Disorders of Pregnancy (HDP) encompass a spectrum of disorders that affect 6-8% of US pregnancies. We aim to determine the impact of self-reported history of HDP as a risk factor for screening positive for Posttraumatic Stress Disorder (PTSD), which results from exposure to
van der Put, Claudia E; Bouwmeester-Landweer, Merian B R; Landsmeer-Beker, Eleonore A; Wit, Jan M; Dekker, Friedo W; Kousemaker, N Pieter J; Baartman, Herman E M
For preventive purposes it is important to be able to identify families with a high risk of child maltreatment at an early stage. Therefore we developed an actuarial instrument for screening families with a newborn baby, the Instrument for identification of Parents At Risk for child Abuse and Neglect (IPARAN). The aim of this study was to assess the predictive validity of the IPARAN and to examine whether combining actuarial and clinical methods leads to an improvement of the predictive validity. We examined the predictive validity by calculating several performance indicators (i.e., sensitivity, specificity and the Area Under the receiver operating characteristic Curve [AUC]) in a sample of 4692 Dutch families with newborns. The outcome measure was a report of child maltreatment at Child Protection Services during a follow-up of 3 years. For 17 children (.4%) a report of maltreatment was registered. The predictive validity of the IPARAN was significantly better than chance (AUC=.700, 95% CI [.567-.832]), in contrast to a low value for clinical judgement of nurses of the Youth Health Care Centers (AUC=.591, 95% CI [.422-.759]). The combination of the IPARAN and clinical judgement resulted in the highest predictive validity (AUC=.720, 95% CI [.593-.847]), however, the difference between the methods did not reach statistical significance. The good predictive validity of the IPARAN in combination with clinical judgment of the nurse enables professionals to assess risks at an early stage and to make referrals to early intervention programs. Copyright © 2017 Elsevier Ltd. All rights reserved.
Prijmenko, S.D.; Papkovich, V.G.; Khizhnyak, N.A.
An equation of the linear antenna in cylindric screen is formulated. Using the averaging method a solution of this equation for the antenna of arbitrary orientation which does not contact the screen walls or contacts them in one or two ends is received. The obtained asymptotic expression for stream permits to describe in a single manner the case of resonance and non-resonance scattering. These results may be applied in design of UHF and accelerating installations using cylindric screens charged with linear vibrators. 9 refs. (author)
Chu, Haitao; Zhou, Yijie; Cole, Stephen R.; Ibrahim, Joseph G.
Summary To evaluate the probabilities of a disease state, ideally all subjects in a study should be diagnosed by a definitive diagnostic or gold standard test. However, since definitive diagnostic tests are often invasive and expensive, it is generally unethical to apply them to subjects whose screening tests are negative. In this article, we consider latent class models for screening studies with two imperfect binary diagnostic tests and a definitive categorical disease status measured only for those with at least one positive screening test. Specifically, we discuss a conditional independent and three homogeneous conditional dependent latent class models and assess the impact of misspecification of the dependence structure on the estimation of disease category probabilities using frequentist and Bayesian approaches. Interestingly, the three homogeneous dependent models can provide identical goodness-of-fit but substantively different estimates for a given study. However, the parametric form of the assumed dependence structure itself is not “testable” from the data, and thus the dependence structure modeling considered here can only be viewed as a sensitivity analysis concerning a more complicated non-identifiable model potentially involving heterogeneous dependence structure. Furthermore, we discuss Bayesian model averaging together with its limitations as an alternative way to partially address this particularly challenging problem. The methods are applied to two cancer screening studies, and simulations are conducted to evaluate the performance of these methods. In summary, further research is needed to reduce the impact of model misspecification on the estimation of disease prevalence in such settings. PMID:20191614
Hofvind, Solveig; Sagstad, Silje; Sebuødegård, Sofie; Chen, Ying; Roman, Marta; Lee, Christoph I
Purpose To compare rates and tumor characteristics of interval breast cancers (IBCs) detected after a negative versus false-positive screening among women participating in the Norwegian Breast Cancer Screening Program. Materials and Methods The Cancer Registry Regulation approved this retrospective study. Information about 423 445 women aged 49-71 years who underwent 789 481 full-field digital mammographic screening examinations during 2004-2012 was extracted from the Cancer Registry of Norway. Rates and odds ratios of IBC among women with a negative (the reference group) versus a false-positive screening were estimated by using logistic regression models adjusted for age at diagnosis and county of residence. Results A total of 1302 IBCs were diagnosed after 789 481 screening examinations, of which 7.0% (91 of 1302) were detected among women with a false-positive screening as the most recent breast imaging examination before detection. By using negative screening as the reference, adjusted odds ratios of IBCs were 3.3 (95% confidence interval [CI]: 2.6, 4.2) and 2.8 (95% CI: 1.8, 4.4) for women with a false-positive screening without and with needle biopsy, respectively. Women with a previous negative screening had a significantly lower proportion of tumors that were 10 mm or less (14.3% [150 of 1049] vs 50.0% [seven of 14], respectively; P false-positive screening with benign biopsy. A retrospective review of the screening mammographic examinations identified 42.9% (39 of 91) of the false-positive cases to be the same lesion as the IBC. Conclusion By using a negative screening as the reference, a false-positive screening examination increased the risk of an IBC three-fold. The tumor characteristics of IBC after a negative screening were less favorable compared with those detected after a previous false-positive screening. © RSNA, 2017 Online supplemental material is available for this article.
Ascunce, Nieves [Public Health Institute, CIBERESP, Navarra Breast Cancer Screening Programme, Pamplona (Spain); Instituto de Salud Publica, Navarra Breast Cancer Screening Programme, Pamplona (Spain); Ederra, Maria; Delfrade, Josu; Erdozain, Nieves [Public Health Institute, CIBERESP, Navarra Breast Cancer Screening Programme, Pamplona (Spain); Baroja, Araceli [Fundacion Rioja Salud, Logrono (Spain); Zubizarreta, Raquel [Public Health and Planning Directorate, Health Office, Galician Breast Cancer Screening Programme, Galicia (Spain); Salas, Dolores [General Directorate Public Health and Centre for Public Health Research (CSISP), Valencia (Spain); Castells, Xavier [Mar Teaching Hospital, CIBERESP, Department of Clinical Epidemiology, Barcelona (Spain)
Breast cancer screening is offered to 100% of the target population in Spain and intermediate mammograms (IMs) are sometimes indicated. This study was aimed at analysing the frequency of IMs, the factors determining their recommendation, and their impact on the risk of false-positive results and the detection rate. Data from 3,471,307 mammograms from Spanish breast cancer screening programmes were included. 3.36% of the mammograms were IMs. The factors associated with the use of IMs were age, initial screening, previous invasive tests, a familial history of breast cancer and use of hormone replacement therapy. In screening episodes with an IM, the probability of a false-positive result was 13.74% (95% CI: 13.43-14.05), almost double that in episodes without IMs (6.02%, 95% CI 5.99-6.05). In young women with previous invasive procedures, a familial history of breast cancer or hormone replacement therapy use who were undergoing their initial screen, this probability was lower when IMs were performed. IMs always increased the detection rate. The factors prompting IMs should be characterised so that radiologists can systematise their recommendations according to the presence of the factors maximising the benefits and minimising the adverse effects of this procedure. (orig.)
Ascunce, Nieves; Ederra, Maria; Delfrade, Josu; Erdozain, Nieves; Baroja, Araceli; Zubizarreta, Raquel; Salas, Dolores; Castells, Xavier
Breast cancer screening is offered to 100% of the target population in Spain and intermediate mammograms (IMs) are sometimes indicated. This study was aimed at analysing the frequency of IMs, the factors determining their recommendation, and their impact on the risk of false-positive results and the detection rate. Data from 3,471,307 mammograms from Spanish breast cancer screening programmes were included. 3.36% of the mammograms were IMs. The factors associated with the use of IMs were age, initial screening, previous invasive tests, a familial history of breast cancer and use of hormone replacement therapy. In screening episodes with an IM, the probability of a false-positive result was 13.74% (95% CI: 13.43-14.05), almost double that in episodes without IMs (6.02%, 95% CI 5.99-6.05). In young women with previous invasive procedures, a familial history of breast cancer or hormone replacement therapy use who were undergoing their initial screen, this probability was lower when IMs were performed. IMs always increased the detection rate. The factors prompting IMs should be characterised so that radiologists can systematise their recommendations according to the presence of the factors maximising the benefits and minimising the adverse effects of this procedure. (orig.)
Bohnert, Kipling M; Perron, Brian E; Ashrafioun, Lisham; Kleinberg, Felicia; Jannausch, Mary; Ilgen, Mark A
Twenty-one states and the District of Columbia have passed legislation allowing for the use of medical cannabis for those individuals with qualifying medical conditions, which include posttraumatic stress disorder (PTSD) for a growing number of states. Little information is available regarding PTSD among medical cannabis patients. This study seeks to provide initial data on this topic by examining the prevalence and correlates of positive PTSD screens among a sample of patients seeking medical cannabis certification for the first time (n=186). Twenty-three percent (42/186; 95% confidence interval [CI] =17%-29%) of the patients in the study sample screened positive for PTSD. Moreover, the group that screened positive for PTSD had higher percentages of lifetime prescription opioid, cocaine, prescription sedative, and street opioid use, as well as a higher percentage of recent prescription sedative use, than the group that screened negative for PTSD. These findings highlight the relatively common use of other substances among medical cannabis patients with significant PTSD symptoms, even when compared with other patients seeking medical cannabis for the first time. As a growing number of states include PTSD among the list of qualifying medical conditions for medical cannabis, additional research is needed to better characterize the longitudinal relationship between medical cannabis use and PTSD symptoms. Published by Elsevier Ltd.
Mutia Farah Fawziah
Full Text Available Background Identification of gestational age, especially within 48 hours of birth, is crucial for newborns, as the earlier preterm status is detected, the earlier the child can receive optimal management. Newborn foot length is an anthropometric measurement which is easy to perform, inexpensive, and potentially efficient for predicting gestational age. Objective To analyze the diagnostic value of newborn foot length in predicting gestational age. Methods This diagnostic study was performed between October 2016 and February 2017 in the High Care Unit of Neonates at Dr. Moewardi General Hospital, Surakarta. A total of 152 newborns were consecutively selected and underwent right foot length measurements before 96 hours of age. The correlation between newborn foot length to classify as full term and gestational age was analyzed with Spearman’s correlation test because of non-normal data distribution. The cut-off point of newborn foot length was calculated by receiver operating characteristic (ROC curve and diagnostic values of newborn foot length were analyzed by 2 x 2 table with SPSS 21.0 software. Results There were no significant differences between male and female newborns in terms of gestational age, birth weight, choronological age, and newborn foot length (P>0.05. Newborn foot length and gestational age had a significant correlation (r=0.53; P=0.000. The optimal cut-off newborn foot length to predict full term status was 7.1 cm. Newborn foot length below 7.1 cm had sensitivity 75%, specificity 98%, positive predictive value 94.3%, negative predictive value 90.6%, positive likelihood ratio 40.5, negative likelihood ratio 0.25, and post-test probability 94.29%, to predict preterm status in newborns. Conclusion Newborn foot length can be used to predict gestational age, especially for the purpose of differentiating between preterm and full term newborns.
Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program Fenilcetonúria, hipotireoidismo congênito e hemoglobinopatias: questões de saúde pública para um programa de triagem neonatal brasileiro
Full Text Available In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil Newborn Screening Program (NBSP was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007 was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427 and B (1:16,522 might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively. This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.Neste estudo, foi analisada a frequência de detecção do hipotireoidismo congênito, fenilcetonúria e hemoglobinopatias no Programa de Triagem Neonatal do Estado do Rio de Janeiro, Brasil, entre 2005 e 2007. Havia dois Serviços de Referência em Triagem Neonatal (designados SRTN A e B com diferenças programáticas. Em 2007, a cobertura alcançou 80,7%. O aumento na incidência do hipotireoidismo congênito (1:1.030 em 2007 foi atribuído à redução no valor de corte do TSH ao longo do tempo. As incidências discrepantes da fenilcetonúria entre os modelos (SRTN A - 1:28.427; SR-TN B - 1:16.522 podem ser parcialmente explicadas pelo pequeno número de casos. A incidência da doença falciforme e do traço falcêmico foi uniformemente elevada (1:1.288 e 1:21, respectivamente, sendo coerente com a composição étnica da população. As diferenças nos m
Alvaro, D.; Sunjevaric, I.; Reid, R. J.
We have developed a new method, systematic hybrid loss of heterozygosity, to facilitate genomic screens utilizing the yeast gene deletion library. Screening is performed using hybrid diploid strains produced through mating the library haploids with strains from a different genetic background......, to minimize the contribution of unpredicted recessive genetic factors present in the individual library strains. We utilize a set of strains where each contains a conditional centromere construct on one of the 16 yeast chromosomes that allows the destabilization and selectable loss of that chromosome. After...... complementation of any spurious recessive mutations in the library strain, facilitating attribution of the observed phenotype to the documented gene deletion and dramatically reducing false positive results commonly obtained in library screens. The systematic hybrid LOH method can be applied to virtually any...
Brignone, Emily; Gundlapalli, Adi V; Blais, Rebecca K; Carter, Marjorie E; Suo, Ying; Samore, Matthew H; Kimerling, Rachel; Fargo, Jamison D
Military sexual trauma (MST) is associated with adverse physical and mental health outcomes following military separation. Recent research suggests that MST may be a determinant in several factors associated with postdeployment homelessness. To evaluate MST as an independent risk factor for homelessness and to determine whether risk varies by sex. A retrospective cohort study of US veterans who used Veterans Health Administration (VHA) services between fiscal years 2004 and 2013 was conducted using administrative data from the Department of Defense and VHA. Included in the study were 601 892 US veterans deployed in Iraq or Afghanistan who separated from the military between fiscal years 2001 and 2011 and subsequently used VHA services. Positive response to screen for MST administered in VHA facilities. Administrative evidence of homelessness within 30 days, 1 year, and 5 years following the first VHA encounter after last deployment. The mean (SD) age of the 601 892 participants was 38.9 (9.4) years, 527 874 (87.7%) were male, 310 854 (51.6%) were white, and 382 361 (63.5%) were enlisted in the Army. Among veterans with a positive screen for MST, rates of homelessness were 1.6% within 30 days, 4.4% within 1 year, and 9.6% within 5 years, more than double the rates of veterans with a negative MST screen (0.7%, 1.8%, and 4.3%, respectively). A positive screen for MST was significantly and independently associated with postdeployment homelessness. In regression models adjusted for demographic and military service characteristics, odds of experiencing homelessness were higher among those who screened positive for MST compared with those who screened negative (30-day: adjusted odds ratio [AOR], 1.89; 95% CI, 1.58-2.24; 1-year: AOR, 2.27; 95% CI, 2.04-2.53; and 5-year: AOR, 2.63; 95% CI, 2.36-2.93). Military sexual trauma screen status remained independently associated with homelessness after adjusting for co-occurring mental health and substance abuse diagnoses
MacRae, Alasdair; Lord, Emily; Forsythe, Annabel; Sherrard, Jackie
A case note audit was undertaken of HIV-positive men who have sex with men (MSM) to ascertain whether national guidelines for taking sexual histories, including recreational drug use and sexually transmitted infection (STI) screening were being met. The notes of 142 HIV-positive men seen in 2015 were available, of whom 85 were MSM. Information was collected regarding sexual history, recreational drug use documentation, sexually transmitted infection screen offer and test results. Seventy-seven (91%) of the MSM had a sexual history documented, of whom 60 (78%) were sexually active. STI screens were offered to 58/60 (97%) of those who were sexually active and accepted by 53 (91%). Twelve (23%) of these had an STI. A recreational drug history was taken in 63 (74%) with 17 (27%) reporting use and 3 (5%) chemsex. The high rate of STIs highlights that regular screening in this group is essential. Additionally, the fact that over a quarter reported recreational drug use and given the increasing concern around chemsex, questions about this should be incorporated into the sexual history proforma.
Zubizarreta Alberdi, Raquel [Galician Breast Cancer Screening Programme, Public Health and Planning Directorate, Health Office, Galicia (Spain); Edificio Administrativo da Conselleria de Sanidade, Servicio de Programas Poboacionais de Cribado, Direccion Xeral de Saude Publica e Planificacion, Santiago de Compostela, Galicia (Spain); Llanes, Ana B.F.; Ortega, Raquel Almazan [Galician Breast Cancer Screening Programme, Public Health and Planning Directorate, Health Office, Galicia (Spain); Exposito, Ruben Roman; Collado, Jose M.V.; Oliveres, Xavier Castells [Department of Epidemiology and Evaluation, Institut Municipal d' Investigacio Medica-Parc de Salut Mar. CIBERESP, Barcelona (Spain); Queiro Verdes, Teresa [Galician Agency for Health Technology Assessment, Public Health and Planning Directorate, Health Office, Galicia (Spain); Natal Ramos, Carmen [Principality of Asturias Breast Cancer Screening Programme, Principality of Asturias (Spain); Sanz, Maria Ederra [Public Health Institute, Navarra Breast Cancer Screening Programme, Pamplona (Spain); Salas Trejo, Dolores [General Directorate Public Health and Centre for Public Health Research (CSISP), Valencia Breast Cancer Screening Programme, Valencia (Spain)
To evaluate the effect of radiologist experience on the risk of false-positive results in population-based breast cancer screening programmes. We evaluated 1,440,384 single-read screening mammograms, corresponding to 471,112 women aged 45-69 years participating in four Spanish programmes between 1990 and 2006. The mammograms were interpreted by 72 radiologists. The overall percentage of false-positive results was 5.85% and that for false-positives resulting in an invasive procedure was 0.38%. Both the risk of false-positives overall and of false-positives leading to an invasive procedure significantly decreased (p < 0.001) with greater reading volume in the previous year: OR 0.77 and OR 0.78, respectively, for a reading volume 500-1,999 mammograms and OR 0.59 and OR 0.60 for a reading volume of >14,999 mammograms with respect to the reference category (<500). The risk of both categories of false-positives was also significantly reduced (p < 0.001) as radiologists' years of experience increased: OR 0.96 and OR 0.84, respectively, for 1 year's experience and OR 0.72 and OR 0.73, respectively, for more than 4 years' experience with regard to the category of <1 year's experience. Radiologist experience is a determining factor in the risk of a false-positive result in breast cancer screening. (orig.)
Kilduff, C. J.
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
Cawson, Jennifer N.; Malara, Frank A.
Traumatic fat necrosis can result in a spectrum of imaging appearances that range from characteristically benign to those indistinguishable from malignancy. In such cases, biopsy might be required for diagnosis. The present case demonstrates a suspicious mammographic mass lesion appearing following a haematoma caused by a previous screening mammogram Copyright (2004) Blackwell Publishing Asia Pty Ltd
Mantikou, Eleni; Arkesteijn, Sandra G; Beckhoven van, Jaqueline M; Kerkhoffs, Jean-Louis; Harteveld, Cornelis L; Giordano, Piero Carlo
We present in a brief summary the basic aspects of the most rational technologies used for new born screening (NBS) of the hemoglobinopathies and we report the preliminary results for the identification of beta-thalassemia carriers at birth by measuring the expression of the HbA fraction. Separation and measurement of the Hb fractions in 1.500 cord blood samples collected among the multi-ethnic Dutch population using different methods. By using a cut of thalassemia can be preselected at birth with a reasonable degree of sensitivity and be confirmed by parent analysis.
Otten, J D M; Fracheboud, J; den Heeten, G J; Otto, S J; Holland, R; de Koning, H J; Broeders, M J M; Verbeek, A L M
Women require balanced, high-quality information when making an informed decision on screening benefits and harms before attending biennial mammographic screening. The cumulative risk of a false-positive recall and/or (small) screen-detected or interval cancer over 13 consecutive screening examinations for women aged 50 from the start of screening were estimated using data from the Nijmegen programme, the Netherlands. Women who underwent 13 successive screens in the period 1975-1976 had a 5.3% cumulative chance of a screen-detected cancer, with a 4.2% risk of at least one false-positive recall. The risk of being diagnosed with interval cancer was 3.7%. Two decades later, these estimates were 6.9%, 7.3% and 2.9%, respectively. The chance of detection of a small, favourable invasive breast cancer, anticipating a normal life-expectancy, rose from 2.3% to 3.7%. Extrapolation to digital screening mammography indicates that the proportion of false-positive results will rise to 16%. Dutch women about to participate in the screening programme can be reassured that the chance of false-positive recall in the Netherlands is relatively low. A new screening policy and improved mammography have increased the detection of an early screening carcinoma and lowering the risk of interval carcinoma.
Fahimzad, Alireza; Afgeh, Seyyed Abolfazl; Eghbali, Elham; Abdinia, Babak; Shiva, Farideh; Rahbar, Mohammad
Cytomegalovirus (CMV) is a leading cause of congenital infection in neonates. Most infants with congenital CMV infection are asymptomatic at birth and not diagnosed on routine clinical examination. To identify these at-risk infants early in life, polymerase chain reaction (PCR) assays are done to screen large populations of newborn infants. We carried out a pilot study to estimate the prevalence of CMV in saliva from newborns by DNA PCR assay. This study was performed from January 2012 to March 2012 at a maternity hospital in the south of Tehran. All newborns aged between 1 to 14 days born at this hospital were enrolled. Saliva specimens from newborns were collected by swabbing the inside of the baby's mouth and stored at -70 degrees C until PCR processing for virus detection. Six-hundred and twenty infants between 1 to 14 days of age were enrolled during the study period of two months. The PCR assay was positive for CMV in 2 newborns [0.3%]. Both of these infants were asymptomatic for congenital CMV at birth and also when followed up at three months and six months of age. Our findings reveal that because of a low yield of positive results, screening for congenital CMV infection would not be cost-effective in Iranian neonates.
Molecular docking is a powerful tool used in drug discovery and structural biology for predicting the structures of ligand–receptor complexes. However, the accuracy of docking calculations can be limited by factors such as the neglect of protein reorganization in the scoring function; as a result, ligand screening can produce a high rate of false positive hits. Although absolute binding free energy methods still have difficulty in accurately rank-ordering binders, we believe that they can be fruitfully employed to distinguish binders from nonbinders and reduce the false positive rate. Here we study a set of ligands that dock favorably to a newly discovered, potentially allosteric site on the flap of HIV-1 protease. Fragment binding to this site stabilizes a closed form of protease, which could be exploited for the design of allosteric inhibitors. Twenty-three top-ranked protein–ligand complexes from AutoDock were subject to the free energy screening using two methods, the recently developed binding energy analysis method (BEDAM) and the standard double decoupling method (DDM). Free energy calculations correctly identified most of the false positives (≥83%) and recovered all the confirmed binders. The results show a gap averaging ≥3.7 kcal/mol, separating the binders and the false positives. We present a formula that decomposes the binding free energy into contributions from the receptor conformational macrostates, which provides insights into the roles of different binding modes. Our binding free energy component analysis further suggests that improving the treatment for the desolvation penalty associated with the unfulfilled polar groups could reduce the rate of false positive hits in docking. The current study demonstrates that the combination of docking with free energy methods can be very useful for more accurate ligand screening against valuable drug targets. PMID:25189630
Full Text Available Classical serological screening assays for Chagas' disease are time consuming and subjective. The objective of the present work is to evaluate the enzyme immuno-assay (ELISA methodology and to propose an algorithm for blood banks to be applied to Chagas' disease. Seven thousand, nine hundred and ninety nine blood donor samples were screened by both reverse passive hemagglutination (RPHA and indirect immunofluorescence assay (IFA. Samples reactive on RPHA and/or IFA were submitted to supplementary RPHA, IFA and complement fixation (CFA tests. This strategy allowed us to create a panel of 60 samples to evaluate the ELISA methodology from 3 different manufacturers. The sensitivity of the screening by IFA and the 3 different ELISA's was 100%. The specificity was better on ELISA methodology. For Chagas disease, ELISA seems to be the best test for blood donor screening, because it showed high sensitivity and specificity, it is not subjective and can be automated. Therefore, it was possible to propose an algorithm to screen samples and confirm donor results at the blood bank.Os testes sorológicos clássicos utilizados na triagem de doadores de sangue são trabalhosos e subjetivos. O objetivo do presente trabalho é o de avaliar a metodologia imuno-enzimática (ELISA e propor um algorítmo para doença de Chagas em bancos de sangue. Foram estudados 7999 doadores de sangue e/ou componentes cujas amostras foram testadas com o objetivo de tria-las sorologicamente para doença de Chagas utilizando hemaglutinação passiva reversa (RPHA e imunofluorescência indireta (IFA. As amostras reativas em pelo menos uma destas metodologias, foram retestadas com reativos diferentes por RPHA, IFA e fixação de complemento (CFA. Esta estratégia nos permitiu criar um painel de 60 amostras com as quais tornou-se possível a avaliação do método imunoenzimático (ELISA. A sensibilidade da triagem dos doadores pelos métodos ELISA e IFA foi de 100%. A especificidade
Christensen, R D; Baer, V L; MacQueen, B C; O'Brien, E A; Ilstrup, S J
ABO hemolytic disease occurs among neonates with blood groups A or B delivered to group O women. Extreme neonatal hyperbilirubinemia due to ABO disease has been reported, but its frequency is not well known. We sought to determine the odds of developing severe ABO hemolytic disease in the 13 years since adopting universal bilirubin screening/management in the Intermountain Healthcare system. We conducted a retrospective analysis of neonates born between 2004 and 2016, defining "severe hemolytic disease" as; (1) total serum bilirubin (TSB) >25 mg/dL, or (2) hospital readmission for jaundice, or (3) bilirubin encephalopathy. Neonates born to group O (+) mothers were included and considered either; (1) Controls (not at risk for ABO disease because they were group O), (2) Study subjects (at risk for ABO disease because they were group A or B). Of 400,531 live births, 47% were to group O women; 86% of whom were group O (+). Overall, 42,529 (27%) neonates born to group O (+) women had their blood group determined; 29,729 (68%) were O, 10,682 (25%) A, and 3109 (7%) B. Peak TSBs during the first 10 days were higher in group A (11.0 ± 4.2 mg/dL) and B (11.5 ± 4.3) than group O neonates (10.3 ± 4.1). However the relative risks of a TSB ≥25 mg/dL, readmission for jaundice, or kernicterus, were the same in the control vs. study groups. In our health system, severe hemolytic disease in neonates born to group O (+) woman is not more likely in group A or B neonates than in controls (group O). We recognize that in other practices, particularly those who do not have a universal bilirubin screening/management program, ABO hemolytic disease severity might be different than in our system.
This experiment identifies and models phases during the positioning of graphical objects (called cursors in this article) on computer displays. The human computer-interaction community has traditionally used Fitts' law to model selection in graphical user interfaces, whereas human factors experiments have found the single-component Fitts' law inadequate to model positioning of real objects. Participants (N=145) repeatedly positioned variably sized square cursors within variably sized rectangular targets using computer mice. The times for the cursor to just touch the target, for the cursor to enter the target, and for participants to indicate positioning completion were observed. The positioning tolerances were varied from very precise and difficult to imprecise and easy. The time for the cursor to touch the target was proportional to the initial cursor-target distance. The time for the cursor to completely enter the target after touching was proportional to the logarithms of cursor size divided by target tolerances. The time for participants to indicate positioning after entering was inversely proportional to the tolerance. A three-phase model defined by regions--distant, proximate, and inside the target--was proposed and could model the positioning tasks. The three-phase model provides a framework for ergonomists to evaluate new positioning techniques and can explain their deficiencies. The model provides a means to analyze tasks and enhance interaction during positioning.
Full Text Available Overexpressed Human epidermal growth factor receptor 2 (HER2 drives the biology of 20% breast cancer and is a prediction of a poor prognosis for patients. HER2-targeted therapies significantly improve outcomes for HER2-positive patients. Traditional Chinese herbs/medicines have been used to treat breast cancer patients including HER2-positive patients in Asia for decades. Although the traditional medicines demonstrate efficacy in clinics for HER2-positive patients, the mechanism is largely unknown. In this article, we screened a 10,000 natural product library in 6 different cell lines representing breast cancer, and assessed the ability of each drug to cause cytotoxicity through a high-throughput screening approach. We have identified eight natural compounds that selectively inhibit the proliferation of HER2-positive cells. Two of the hit compounds, peonidin-3-glucoside and cyaniding-3-glucoside, are both extracts from black rice. They inhibit the phospho-HER2 and phospho-AKT and were confirmed to induce HER2-psotive breast cancer cells apoptosis both in vitro and in vivo. Peonidin-3-glucoside and cyaniding-3-glucoside treatments significantly reduced the tumor size and volume in vivo compared to the control group. There is no significant difference of antitumorgenic effects between peonidin-3-glucoside and cyaniding-3-glucoside treatments.
Griebel, Juergen; Ebdon-Jackson, Steve
Over the course of several meetings the HERCA-Working Group (WG) 'Medical Applications' has discussed the exposure of asymptomatic individuals in health care. In particular, the discussions focused on the issue of the early detection of severe diseases, by use of X-rays, for those who do not present with symptoms. An important and established example is the use of X-ray mammography to detect early breast cancer and this has traditionally been referred to as screening. An emerging application is the use of computed tomography in a range of circumstances, some of which may be better described as a separate category of medical exposure as they are neither diagnostic nor screening in the accepted sense. The discussions have indicated that it is pivotal to clearly define the relevant terms generally applied and to clearly differentiate these terms from diagnostic examinations used in health care. In this context, it is important to note, that the revision of the Euratom Basic Safety Standards (Euratom BSS) Directive is under way and addresses in particular medical radiological procedures on asymptomatic individuals, intended to be performed for early detection of disease (Draft Proposal 29 September 2011 Article 54). Hereby, two types of examinations of asymptomatic individuals, (that in some cases have both been referred to as screening) are addressed: (1) exposures as part of screening programmes and (2) exposures associated with individual health assessment. On adoption, this directive will have significant implications for and a substantial impact on the work of the radiation protection authorities in Europe. In this position paper the WG 'Medical Applications' proposes a clear distinction between screening and radiological procedures as part of an individual health assessment and highlights special requirements for the latter. Finally, the impact on the work of radiation protection authorities in Europe is addressed
Hipotireoidismo congênito: perfil clínico dos recém-nascidos identificados pelo Programa de Triagem Neonatal de Minas Gerais Congenital hypothyroidism: the clinical profile of affected newborns identified by the Newborn Screening Program of the State of Minas Gerais, Brazil
Isabela L. Pezzuti
Full Text Available OBJETIVO: Avaliar o perfil clínico de recém-nascidos com hipotireoidismo congênito identificados pelo Programa Estadual de Triagem Neonatal de Minas Gerais entre 2000 e 2006. MÉTODOS: A frequência das manifestações clínicas de hipotireoidismo congênito foi analisada em relação aos níveis de hormônio estimulante da tireoide T4L (determinados por quimioluminescência, valores de referência de 0,3 a 5,0 µUI/mL e 0,8 a 1,8 ng/dL, respectivamente e idades ao diagnóstico e tratamento. Estudou-se 443 crianças, sendo 55,8% do sexo feminino e 95% delas com menos 60 dias de vida. RESULTADOS: Os sinais clínicos mais prevalentes foram: hérnia umbilical (51%, fontanela anterior ampla (50,3% e fontanela posterior aberta (47,2%. Hipotonia, macroglossia e sucção débil foram os sinais mais associados com a gravidade bioquímica da doença. Em 32,1% das crianças houve atraso na idade óssea ao diagnóstico. As medianas de TSH e T4L séricos foram 120 µUI/mL e 0,62 ng/dL, respectivamente. A mediana da idade de início de tratamento foi de 28 dias. CONCLUSÃO: Existem sinais clínicos precoces que sugerem o diagnóstico de hipotireoidismo congênito. Portanto, diante de uma criança com esses sinais, devem ser avaliados TSH e T4L séricos para confirmar ou excluir a doença, independentemente do resultado do teste de triagem. A idade de início de tratamento ainda foi elevada, mas o programa vem adotando estratégias para redução da mesma.OBJECTIVE: To evaluate the clinical profile of newborns with congenital hypothyroidism identified by the Newborn Screening Program of the State of Minas Gerais, Brazil, between 2000 and 2006. METHODS: Analysis of factors involved in this profile, including: TSH and FT4 levels (determined by chemiluminescence, with limits of normality set at 0.3-5.0 µUI/mL and 0.8-1.8 ng/dL, respectively, age at diagnosis and age at treatment. The study sample consisted of 443 children, 55.8% were female and 95% were seen
Waisbren, Susan E; Bäck, Danielle K; Liu, Christina; Kalia, Sarah S; Ringer, Steven A; Holm, Ingrid A; Green, Robert C
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.
Ray, Shonket; Keller, Brad M.; Chen, Jinbo; Conant, Emily F.; Kontos, Despina
This work details a methodology to obtain optimal parameter values for a locally-adaptive texture analysis algorithm that extracts mammographic texture features representative of breast parenchymal complexity for predicting falsepositive (FP) recalls from breast cancer screening with digital mammography. The algorithm has two components: (1) adaptive selection of localized regions of interest (ROIs) and (2) Haralick texture feature extraction via Gray- Level Co-Occurrence Matrices (GLCM). The following parameters were systematically varied: mammographic views used, upper limit of the ROI window size used for adaptive ROI selection, GLCM distance offsets, and gray levels (binning) used for feature extraction. Each iteration per parameter set had logistic regression with stepwise feature selection performed on a clinical screening cohort of 474 non-recalled women and 68 FP recalled women; FP recall prediction was evaluated using area under the curve (AUC) of the receiver operating characteristic (ROC) and associations between the extracted features and FP recall were assessed via odds ratios (OR). A default instance of mediolateral (MLO) view, upper ROI size limit of 143.36 mm (2048 pixels2), GLCM distance offset combination range of 0.07 to 0.84 mm (1 to 12 pixels) and 16 GLCM gray levels was set. The highest ROC performance value of AUC=0.77 [95% confidence intervals: 0.71-0.83] was obtained at three specific instances: the default instance, upper ROI window equal to 17.92 mm (256 pixels2), and gray levels set to 128. The texture feature of sum average was chosen as a statistically significant (p<0.05) predictor and associated with higher odds of FP recall for 12 out of 14 total instances.
Lagos, Marcela; Van De Wyngard, Vanessa; Poggi, Helena; Cook, Paz; Viviani, Paola; Barriga, María Isabel; Pruyas, Martha; Ferreccio, Catterina
We previously conducted a population-based screening trial of high-risk human papillomavirus (hrHPV) testing and conventional cytology, demonstrating higher sensitivity (92.7 % vs 22.1 % for CIN2+) but lower positive predictive value (10.5 % vs 23.9 %) of hrHPV testing. Here we report the performance of HPV16/18 genotyping to triage the hrHPV positive participants. Women aged 25 years and older received hrHPV (Hybrid Capture 2) and Papanicolaou testing; positives by either test underwent colposcopy and directed biopsy, as did a sample of double-negatives. hrHPV positive women were reflex-tested with HPV16/18 genotyping (Digene HPV Genotyping PS Test). Among the 8,265 participants, 10.7 % were hrHPV positive, 1.7 % had ASCUS+ cytology, 1.2 % had CIN2+; 776 (88 %) hrHPV positive women had complete results, of whom 38.8 % were positive for HPV16 (24.0 %), HPV18 (9.7 %) or both (5.1 %). CIN2+ prevalence in HPV16/18 positive women (16.3 %, 95 % CI 12.3-20.9) was twice that of HPV16/18 negative women (8.0 %, 95 % CI 5.7-10.8). HPV16/18 genotyping identified 40.5 % of CIN2, 66.7 % of CIN3 and 75.0 % of cancers. Compared to hrHPV screening alone, HPV16/18 triage significantly reduced the referral rate (10.7 % vs 3.7 %) and the number of colposcopies required to detect one CIN2+ (9 vs 6). When HPV16/18 negative women with baseline ASCUS+ cytology were also colposcopied, an additional 14 % of CIN2+ was identified; referral increased slightly to 4.2 %. HPV16/18 triage effectively stratified hrHPV positive women by their risk of high-grade lesions. HPV16/18 positive women must be referred immediately; referral could be deferred in HPV16/18 negative women given the slower progression of non-HPV16/18 lesions, however, they will require active follow-up.
Thyrian, Jochen René; Eichler, Tilly; Reimann, Melanie; Wucherer, Diana; Dreier, Adina; Michalowsky, Bernhard; Hoffmann, Wolfgang
Dementia and depression are common syndromes in the elderly. There is lack of knowledge concerning the frequency of depressive symptoms in people with dementia (PWD) and factors associated with depression. The aim of this analysis is to (a) describe the frequency of depressive symptoms in people screened positive for dementia, (b) describe differences between PWD with and without depressive symptoms, and (c) analyze associations between depressive symptoms and other dementia-related variables. Analyses are based on data of the GP-based intervention trial DelpHi-MV. A sample of 430 (6.29%) people screened positive for dementia in primary care was analyzed regarding depression according to the German version of the Geriatric Depression Scale (GDS, 15-items), demographic variables, and dementia/depression-related variables. Multivariate analyses were conducted to identify factors associated with depressive symptoms. The mean GDS-score of depressive symptoms in n = 430 PWD was m = 3.21 (SD 2.45) with 67 PWD (15.55%) showing clinically relevant depression (GDS depression and n = 62 (14.42%) received antidepressive drug treatment. Depressive symptoms are significantly associated with age (OR = 0.93), functional impairment (OR = 1.36), and quality of life (OR = 0.01, CI: 0.00-0.06). Our results support previous findings that clinically relevant depressive symptoms are more common in people screened positive for dementia than in the general population and are often missed or mismanaged. Our findings underline the importance of managing quality of life, functional status, or depressive symptoms. Also, the results highlight the benefit of including the partner (and probably other carers) for adequate treatment of PWD.
Full Text Available The spectrum of hemolytic disease of the newborn has changed over the last few decades. With the implementation of Rhesus D immunoprophylaxis, hemolytic disease due to ABO incompatibility and other alloantibodies has now emerged as major causes of this condition. Though in developing countries, anti D is still a common antibody in pregnant women, many Asian countries have identified alloantibodies other than anti D as a cause of moderate-severe hemolytic disease. The most concerned fact is that, some of these have been described in Rh D positive women. It appears that universal antenatal screening in all pregnant women needs to be initiated, since Rh D positive women are just as likely as D negative women to form alloantibodies. Many developed nations have national screening programs for pregnant women. This is necessary to ensure timely availability of antigen negative blood and reduce effects on the newborn. Although universal screening seems justified, the cost and infrastructure required would be immense. Developing countries and under resourced nations need to consider universal antenatal screening and frame guidelines accordingly.
Basu, Sabita; Kaur, Ravneet; Kaur, Gagandeep
The spectrum of hemolytic disease of the newborn has changed over the last few decades. With the implementation of Rhesus D immunoprophylaxis, hemolytic disease due to ABO incompatibility and other alloantibodies has now emerged as major causes of this condition. Though in developing countries, anti D is still a common antibody in pregnant women, many Asian countries have identified alloantibodies other than anti D as a cause of moderate-severe hemolytic disease. The most concerned fact is that, some of these have been described in Rh D positive women. It appears that universal antenatal screening in all pregnant women needs to be initiated, since Rh D positive women are just as likely as D negative women to form alloantibodies. Many developed nations have national screening programs for pregnant women. This is necessary to ensure timely availability of antigen negative blood and reduce effects on the newborn. Although universal screening seems justified, the cost and infrastructure required would be immense. Developing countries and under resourced nations need to consider universal antenatal screening and frame guidelines accordingly. PMID:21572705
Umida F. Nasirova, PhD
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
Oppermann, H.C.; Wille, L.
Twenty cases of hemothorax in newborns are reviewed in detail. This unusual cause of acute respiratory distress within the neonatal period was observed in 14 males and 6 females. Most of the patients were fullterm newborns. As causal factors hemorrhagic disease of the newborn (vitamin K deficiency), disseminated intravascular coagulation, arteriovenous malformations and pleural/vascular rupture are considered. The time of occurrence of bleeding symptoms ranged from 1 to 28 days of life. Sixteen out of 20 patients survived without sequelae, but in 4 cases the outcome was lethal. (orig.) [de
Duffy, Michael J
Several randomized controlled trials have shown that population-based screening using faecal occult blood testing (FOBT) can reduce mortality from colorectal neoplasia. Based on this evidence, a number of countries have introduced screening for colorectal cancer (CRC) and high-risk adenoma and many others are considering its introduction. The aim of this article is to critically review the current status of faecal markers as population-based screening tests for these neoplasia. Most of the available faecal tests involve the measurement of either occult blood or a panel of DNA markers. Occult blood may be measured using either the guaiac faecal occult blood test (gFOBT) or a faecal immunochemical test (iFOBT). Although iFOBT may require a greater initial investment, they have several advantages over gFOBT, including greater analytical sensitivity and specificity. Their use results in improved clinical performance and higher uptake rates. Importantly for population screening, some of the iFOBTs can be automated and provide an adjustable cutoff for faecal haemoglobin concentration. However, samples for iFOBT, may be less stable after collection than for gFOBT. For new centres undertaking FOBT for colorectal neoplasia, the European Group on Tumour Markers recommends use of a quantitative iFOBT with an adjustable cutoff point and high throughput analysis. All participants with positive FOBT results should be offered colonoscopy. The panel recommends further research into increasing the stability of iFOBT and the development of improved and affordable DNA and proteomic-based tests, which reduce current false negative rates, simplify sample transport and enable automated analysis.
Bullock, Christopher E.; Myers, Todd M.
Acquisition and maintenance of touch-screen responding was examined in naive cynomolgus monkeys ("Macaca fascicularis") under automaintenance and classical conditioning arrangements. In the first condition of Experiment 1, we compared acquisition of screen touching to a randomly positioned stimulus (a gray square) that was either stationary or…
Maria P Henning
Full Text Available Background. Syphilis research has neglected the prevalence of the disease among psychiatric patients, and traditional syphilis screening has been reported as inadequate. Objectives. (i To assess the syphilis prevalence among psychiatric patients; (ii to compare psychiatric diagnoses of syphilis-infected and -uninfected patients; (iii to assess self-reported high-risk sexual behaviour; (iv to establish syphilis/HIV co-morbidity; and (v to investigate the performance of the rapid plasma reagin (RPR test in syphilis screening, compared with the Treponema pallidum haemagglutination (TPHA test. Methods. Psychiatric inpatients at Weskoppies Hospital, Pretoria, who consented to participate in the study (N=195 were categorised according to gender and length of admission (long-term or recent. Non-treponemal RPR, confirmatory TPHA, HIV-rapid and HIV enzyme-linked immunosorbent assay (ELISA tests were performed. A reactive TPHA test was used to diagnose syphilis. Results. The estimated prevalence of syphilis was 11.7%. There was no significant association between TPHA sero-positivity and primary psychiatric diagnosis or self-reported high-risk sexual behaviour. Significant co-morbidity existed between syphilis and HIV (p=0.012. Compared with the TPHA test, the RPR test performed poorly, identifying only 2/23 patients who had a sero-positive TPHA test (8.7% sensitivity and 100% specificity. Conclusions. The prevalence of syphilis was higher than anticipated, supporting the need for routine testing. The significant co-morbidity and alarming prevalence of HIV and syphilis warrant testing for both conditions in all psychiatric admissions. Current syphilis screening with a single RPR test is inadequate; both RPR and TPHA tests should be performed.
Lince-Deroche, Naomi; Phiri, Jane; Michelow, Pam; Smith, Jennifer S; Firnhaber, Cindy
South Africa has high rates of HIV and HPV and high incidence and mortality from cervical cancer. However, cervical cancer is largely preventable when early screening and treatment are available. We estimate the costs and cost-effectiveness of conventional cytology (Pap), visual inspection with acetic acid (VIA) and HPV DNA testing for detecting cases of CIN2+ among HIV-infected women currently taking antiretroviral treatment at a public HIV clinic in Johannesburg, South Africa. Method effectiveness was derived from a validation study completed at the clinic. Costs were estimated from the provider perspective using micro-costing between June 2013-April 2014. Capital costs were annualized using a discount rate of 3%. Two different service volume scenarios were considered. Threshold analysis was used to explore the potential for reducing the cost of HPV DNA testing. VIA was least costly in both scenarios. In the higher volume scenario, the average cost per procedure was US$ 3.67 for VIA, US$ 8.17 for Pap and US$ 54.34 for HPV DNA. Colposcopic biopsies cost on average US$ 67.71 per procedure. VIA was least sensitive but most cost-effective at US$ 17.05 per true CIN2+ case detected. The cost per case detected for Pap testing was US$ 130.63 using a conventional definition for positive results and US$ 187.52 using a more conservative definition. HPV DNA testing was US$ 320.09 per case detected. Colposcopic biopsy costs largely drove the total and per case costs. A 71% reduction in HPV DNA screening costs would make it competitive with the conservative Pap definition. Women need access to services which meet their needs and address the burden of cervical dysplasia and cancer in this region. Although most cost-effective, VIA may require more frequent screening due to low sensitivity, an important consideration for an HIV-positive population with increased risk for disease progression.
Full Text Available South Africa has high rates of HIV and HPV and high incidence and mortality from cervical cancer. However, cervical cancer is largely preventable when early screening and treatment are available. We estimate the costs and cost-effectiveness of conventional cytology (Pap, visual inspection with acetic acid (VIA and HPV DNA testing for detecting cases of CIN2+ among HIV-infected women currently taking antiretroviral treatment at a public HIV clinic in Johannesburg, South Africa.Method effectiveness was derived from a validation study completed at the clinic. Costs were estimated from the provider perspective using micro-costing between June 2013-April 2014. Capital costs were annualized using a discount rate of 3%. Two different service volume scenarios were considered. Threshold analysis was used to explore the potential for reducing the cost of HPV DNA testing.VIA was least costly in both scenarios. In the higher volume scenario, the average cost per procedure was US$ 3.67 for VIA, US$ 8.17 for Pap and US$ 54.34 for HPV DNA. Colposcopic biopsies cost on average US$ 67.71 per procedure. VIA was least sensitive but most cost-effective at US$ 17.05 per true CIN2+ case detected. The cost per case detected for Pap testing was US$ 130.63 using a conventional definition for positive results and US$ 187.52 using a more conservative definition. HPV DNA testing was US$ 320.09 per case detected. Colposcopic biopsy costs largely drove the total and per case costs. A 71% reduction in HPV DNA screening costs would make it competitive with the conservative Pap definition.Women need access to services which meet their needs and address the burden of cervical dysplasia and cancer in this region. Although most cost-effective, VIA may require more frequent screening due to low sensitivity, an important consideration for an HIV-positive population with increased risk for disease progression.
Full Text Available We are reporting a rare case of severe hemolytic disease of newborn (HDN with Bombay phenotype mother. A retrospective study of a case with severe haemolytic disease of newborn with Bombay phenotype mother was done. Blood grouping, antibody screening, and lectin study was done on the blood sample of the baby and mother to confirm the diagnosis. Hematological and biochemical parameters were obtained from the hospital laboratory information system for the analysis. Blood group of the baby was A positive, direct antiglobulin test was negative. Blood group of the mother was confirmed to be Bombay phenotype, Hematological parameters showed all the signs of ongoing hemolysis and the bilirubin level was in the zone of exchange transfusion. Due to the unavailability of this rare phenotype blood unit, baby was managed conservatively. Anticipating the fetal anemia and HDN with mothers having Bombay phenotype and prior notification to the transfusion services will be of great help in optimizing the neonatal care and outcome.
... Staying Safe Videos for Educators Search English Español Jaundice in Healthy Newborns KidsHealth / For Parents / Jaundice in ... within a few days of birth. Types of Jaundice The most common types of jaundice are: Physiological ( ...
... drink alcohol, or use illegal drugs during pregnancy. Nutrition during pregnancy . Good nutrition is essential for a baby's growth in the uterus and beyond. A poor diet during pregnancy can affect how much a newborn weighs and ...
... the ureter joins the kidney. Bladder outlet obstruction (BOO). BOO describes any blockage in the urethra or at ... urethral valves (PUV), the most common form of BOO seen in newborns and during prenatal ultrasound exams, ...
... Your Child's Development: Newborn Print en español El desarrollo de su hijo: recién nacido From the moment ... when touched on the sole of the foot Social and Emotional Development soothed by a parent's voice ...
Chiu, Hui-Chuan; Hung, Hsin-Yuan; Lin, Hsiu-Chen; Chen, Shu-Ching
Our purpose was to evaluate the effects of a health education and telephone counseling program on knowledge and attitudes about colorectal cancer and screening and the psychological impact of positive screening results. A randomized controlled trial was conducted with 2 groups using a pretest and posttest measures design. Patients with positive colorectal cancer screening results were selected and randomly assigned to an experimental (n = 51) or control (n = 51) group. Subjects in the experimental group received a health education and telephone counseling program, while the control group received routine care only. Patients were assessed pretest before intervention (first visit to the outpatient) and posttest at 4 weeks after intervention (4 weeks after first visit to the outpatient). Patients in the experimental group had a significantly better level of knowledge about colorectal cancer and the psychological impact of a positive screening result than did the control group. Analysis of covariance revealed that the health education and telephone counseling program had a significant main effect on colorectal cancer knowledge. A health education and telephone counseling program can improve knowledge about colorectal cancer and about the psychological impact in patients with positive colorectal cancer screening results. The health education and telephone counseling program is an easy, simple, and convenient method of improving knowledge, improving attitudes, and alleviating psychological distress in patients with positive colorectal cancer screening results, and this program can be expanded to other types of cancer screening. Copyright © 2016 John Wiley & Sons, Ltd.
Bera, Aindrila; Saha, Surajit; Ganguly, Jayanta; Ghosh, Manas
Highlights: • Diamagnetic susceptibility (DMS) of doped quantum dot is studied. • The dot is subjected to Gaussian white noise. • Role of anisotropy, PDEM and PDDSF have been analyzed. • Noise amplifies and suppresses DMS depending on particular condition. • Findings bear significant technological importance. - Abstract: We explore Diamagnetic susceptibility (DMS) of impurity doped quantum dot (QD) in presence of Gaussian white noise introduced to the system additively and multiplicatively. In view of this profiles of DMS have been pursued with variations of geometrical anisotropy and dopant location. We have invoked position-dependent effective mass (PDEM) and position-dependent dielectric screening function (PDDSF) of the system. Presence of noise sometimes suppresses and sometimes amplifies DMS from that of noise-free condition and the extent of suppression/amplification depends on mode of application of noise. It is important to mention that the said suppression/amplification exhibits subtle dependence on use of PDEM, PDDSF and geometrical anisotropy. The study reveals that DMS, or more fundamentally, the effective confinement of LDSS, can be tuned by appropriate mingling of geometrical anisotropy/effective mass/dielectric constant of the system with noise and also on the pathway of application of latter.
Bekhet, Abir K; Garnier-Villarreal, Mauricio
Depression is currently considered the second leading cause of disability worldwide. Positive thinking is a cognitive process that helps individuals to deal with problems more effectively, and has been suggested as a useful strategy for coping with adversity, including depression. The Positive Thinking Skills Scale (PTSS) is a reliable and valid measure that captures the frequency of use of positive thinking skills that can help in the early identification of the possibility of developing depressive thoughts. However, no meaningful cutoff score has been established for the PTSS. To establish a cutoff score for the PTSS for early identification of risk for depression. This study used a receiver operating characteristic (ROC) curve to establish a PTSS cutoff score for risk for depression, using the Center for Epidemiological Studies-Depression Scale (CES-D) as the gold standard measure. In a sample of 109 caregivers, the ROC showed that the cutoff score of PTSS that best classify the participants is 13.5. With this PTSS score, 77.8% of the subjects with low CES-D are classify correctly, and 69.6% of the subjects with high CES-D are classify correctly. Since the PTSS score should be integer numbers, functionally the cutoff would be 13. The study showed that a cut off score of 13 is a point at which referral, intervention, or treatment would be recommended. Consequently, this can help in the early identification of depressive symptoms that might develop because of the stress of caregiving. Copyright © 2017 Elsevier Inc. All rights reserved.
Full Text Available Background: ABO incompatibility hemolytic disease of the newborn is a common cause of clinical jaundice and causes two-thirds of the hemolytic disease in newborns. This study was undertaken to determine the frequency of ABO incompatibility hemolytic disease and its complications in newborns undergoing exchange transfusion.Methods: This prospective and descriptive study was performed in jaundiced newborn infants during a three-year period. Inclusion criteria were: maternal blood type O, newborn blood type A or B, rising indirect hyperbilirubinemia in the first two days of life, positive immunohematologic test for newborns and exchange transfusion. Exclusion criteria were: incomplete information, other accompanying diseases that induce hyperbilirubinemia. All newborn infants received phototherapy before and after exchange transfusion. We did not use intravenous immunoglobulin, hemoxygenase inhibitor drugs and blood products before exchange transfusion.Results: Double-volume exchange transfusion via umbilical cord catheter was performed in 96 patients, 19 (20% of whom suffered from ABO incompatibility. Of these 19 newborns, two-thirds (13 were preterm infants. The minimum level of serum bilirubin was 10 mg/dl and the maximum serum bilirubin level was 35 mg/dl. In six patients (32% serum bilirubin levels were >25mg/dl. The most common blood group was type A for newborns. Immunohematologic tests were positive in 84% of the mothers. ABO incompatibility hemolytic disease was the fourth and second most common reasons for blood exchange transfusion in preterm and term infants, respectively. Laboratory complications were more common than clinical complications. The etiology of 48% of the alloimmunization and 42% of the hemolytic disease in these newborns was ABO incompatibility.Conclusions: Mothers with blood group O and newborns with blood group A or B with positive immunohematologic tests in first hours of life are at high risk for hemolytic disease
Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico
María del Rosario Torres-Sepúlveda
Full Text Available OBJETIVO: Instituir un programa estatal de tamizaje neonatal ampliado para identificar errores innatos del metabolismo y determinar su prevalencia en la población de recién nacidos del estado de Nuevo León. MATERIAL Y MÉTODOS: Entre marzo de 2002 y febrero de 2004 se incluyeron neonatos consecutivos nacidos en hospitales públicos del estado. Se colectaron muestras de sangre en papel filtro entre las 24 y 48 horas de vida y se las sometió a tamiz metabólico mediante espectrometría de masas en tándem. RESULTADOS: Se analizaron 42 264 primeras muestras y se detectaron siete casos, uno de cada padecimiento: homocistinuria, fenilcetonuria, citrulinemia, tirosinemia/transitoria, deficiencia de 3-metilcrotonil-CoA carboxilasa, deficiencia de 3-hidroxi-3-metilglutaril-CoA liasa y galactosemia típica. CONCLUSIONES: La incidencia acumulada de defectos metabólicos en la población fue de 1:5 000 con 0.22% de casos falso-positivos. El programa permitió identificar y tratar con oportunidad los trastornos metabólicos al nacimiento con una efectiva prevención secundaria del retraso mental.OBJECTIVE: To initiate a statewide expanded metabolic screening program in neonates with the purpose of identifying the most common inborn errors of metabolism. MATERIAL AND METHODS: From March 2002 through February 2004, a blood sample was obtained between 24 and 48 hours after delivery from every consecutive child born in public hospitals in Nuevo León. It was spotted on filter paper and analyzed by tandem mass spectrometry for expanded metabolic screening. RESULTS: A total of 42 264 samples were analyzed. Were obtained seven positive results, one for each disorder: homocystinuria, hyperphenylalaninemia, citrulinemia, transient tyrosinemia, 3-methylcrotonyl CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl CoA deficiency, and classic galactosemia. CONCLUSIONS: The estimated incidence of inborn errors of metabolism is 1:5 000, with a false positive rate
Pauline E. Jolly
Full Text Available Abstract Background Cervical Cancer (CC is the number one cancer among women in sub-Saharan Africa. Although CC is preventable, most women in developing countries do not have access to screening. Methods This cross-sectional study was conducted to determine the prevalence and risk factors for cervical lesions using visual inspection with acetic acid (VIA among 112 HIV positive and 161 negative women aged 18–69 years. Results The presence of cervical lesions was greater among HIV positive (22.9% than HIV negative women (5.7%; p < 0.0001. In logistic models, the risk of cervical lesions among HIV positive women was 5.24 times higher when adjusted by age (OR 5.24, CI 2.31–11.88, and 4.06 times higher in a full model (OR 4.06, CI 1.61–10.25, than among HIV negative women. In the age-adjusted model women who had ≥2 lifetime sexual partners were 3 times more likely (OR 3.00, CI 1.02–8.85 to have cervical lesions compared to women with one lifetime partner and the odds of cervical lesions among women with a history of STIs were 2.16 greater (OR 2.16, CI 1.04–4.50 than among women with no previous STI. In the fully adjusted model women who had a previous cervical exam were 2.5 times more likely (OR 2.53, CI 1.06–6.05 to have cervical lesions than women who had not. Conclusions The high prevalence of HIV infection and the strong association between HIV and cervical lesions highlight the need for substantial scale-up of cervical screening to decrease the rate of CC in Swaziland.
Rafael Loch Batista
Full Text Available The role of serum calcitonin as part of the evaluation of thyroid nodules has been widely discussed in literature. However there still is no consensus of measurement of calcitonin in the initial evaluation of a patient with thyroid nodule. Problems concerning cost-benefit, lab methods, false positive and low prevalence of medullary thyroid carcinoma (MTC are factors that limit this approach. We have illustrated two cases where serum calcitonin was used in the evaluation of thyroid nodule and rates proved to be high. A stimulation test was performed, using calcium as secretagogue, and calcitonin hyper-stimulation was confirmed, but anatomopathologic examination did not evidence medullar neoplasia. Anatomopathologic diagnosis detected Hashimoto thyroiditis in one case and adenomatous goiter plus an occult papillary thyroid carcinoma in the other one. Recommendation for routine use of serum calcitonin in the initial diagnostic evaluation of a thyroid nodule, followed by a confirming stimulation test if basal serum calcitonin is showed to be high, is the most currently recommended approach, but questions concerning cost-benefit and possibility of diagnosis error make the validity of this recommendation discussible.
Kocova, Mirjana; Anastasovska, Violeta
Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countries. We present here the results of the selective newborn screening for inborn errors of metabolism, including PKU, performed by tandem mass spectrometry which has been introduced in Macedonia since 2011.
Balcells, Carla; Botet, Francesc; Gayete, Sònia; Marcos, M Ángeles; Dorronsoro, Izaskun; de Alba, Concepción; Figueras-Aloy, Josep
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.
Results: Out of 2,053 samples analyzed, the prevalence of hemoglobinopathies was 18.2% (n=374). The percentages of children with defined hemoglobinopathies included 12.6% (n=258) with sickle cell trait (Hb FAS); 0.9% (n=19) as sickle cell carrier or Hb S Beta+ -thalassemia (Hb FSA); 0.54% (n=11) had SCA or Hb S ...
... 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- ...
Caceres, A; Alvarez, A V; Ovando, A E; Samayoa, B E
Respiratory ailments are important causes of morbidity and mortality in developing countries. Ethnobotanical surveys and literature reviews conducted in Guatemala during 1986-88 showed that 234 plants from 75 families, most of them of American origin, have been used for the treatment of respiratory ailments. Three Gram-positive bacteria causing respiratory infections (Staphylococcus aureus, Streptococcus pneumoniae and Streptococcus pyogenes) were used to screen 68 of the most commonly used plants for activity. Twenty-eight of these (41.2%) inhibited the growth of one or more of the bacteria tested. Staphylococcus aureus was inhibited by 18 of the plant extracts, while 7 extracts were effective against Streptococcus pyogenes. Plants of American origin which exhibited antibacterial activity were: Gnaphalium viscosum, Lippia alba, Lippia dulcis, Physalis philadelphica, Satureja brownei, Solanum nigrescens and Tagetes lucida. These preliminary in vitro results provide scientific basis for the use of these plants against bacterial respiratory infections.
Ivete Sanson Zagonel
Full Text Available Estudo realizado junto ao Serviço de Referência em Triagem Neonatal no estado do Paraná (Fepe, objetivando identificar o índice de coletas de sangue inadequadas recebidas pelo laboratório da Fepe, para realização do exame, no período de janeiro a dezembro de 2002. Foram estudadas fichas cadastrais dos registros internos do laboratório da Fepe, e analisados 222.366 exames, em que identificamos 2.787 com necessidade de repetição por imperícia e erros técnicos nas coletas. Os critérios utilizados na classificação foram: transfusão de sangue, sangue insuficiente, hemolisado, envelhecido, excesso, contaminado e ressecado. Com base nos dados levantados e analisados, verificamos que os maiores índices de erros estão no sangue insuficiente e envelhecido, indicando dificuldades na execução da técnica de coleta, que podem estar relacionadas à falta de conhecimento técnico-científico e desvalorização do exame, às trocas de profissionais treinados por outros não qualificados e à demora significativa no envio das amostras de sangue ao laboratório, realçando a falta de sensibilidade quanto à importância do exame.This paper deals with a study undertaken at Paraná Newborn Screening Reference Service (Fepe. Its aim was to identify the level of inadequate blood samples received by Fepe laboratory for testing from January to December 2002. A study was made from Fepe Laboratory internal medical records and 222,366 tests were examined, in which we identified 2,787 as needing to be repeated due to mistakes made during sample collection. The criteria used for classification were as follows: blood transfusion, insufficient, haemolysed, old, excess, contaminated and dried blood. Based on obtained and analysed data, we were able to determine that the greatest amount of errors relates to insufficient and old blood, indicating difficulties in carrying out the collection technique, which may be concerned to: lack of technical and
Llenas-García, Jara; Rubio, Rafael; Hernando, Asunción; Arrazola, Pilar; Pulido, Federico
A systematic screening for measles, mumps, rubella (MMR) and varicella zoster virus (VZV) in HIV-positive adult immigrants in Spain was evaluated, and factors associated with MMR and VZV vaccines' indication were studied. Every HIV-positive immigrant was tested for VZV and MMR-IgG. MMR vaccine was indicated to patients with lymphocytes CD4+ >200 cells/mm³ and a negative measles-IgG, a negative mumps-IgG and/or a negative rubella-IgG. VZV vaccine was indicated to every VZV-IgG negative patient with CD4+ >400 cells/mm³. In total, 289 patients were screened; seroprevalence was 95.2%, 92.2%, 70.3% and 89.3% for VZV, measles, mumps and rubella IgG, respectively. Having a negative VZV-IgG was statistically associated with coming from sub-Saharan Africa (prevalence ratio [PR]: 6.52; 95% CI: 1.71-24.84; p=0.006), while having secondary education was a protective factor (PR: 0.25; 95% CI: 0.07-0.97; p=0.045). Fourteen patients (4.8%) had indication of VZV vaccine; vaccination was feasible in 21.4% of them at first visit. Eighty-one patients (29.7%) had indication of MMR vaccine, most of them due to mumps-IgG negative (53.1%) or rubella-IgG negative (24.7%). Age Especial attention should be given to immigrant women of childbearing age.
Miles, Anne; Rodrigues, Vania; Sevdalis, Nick
To examine the impact of numeric risk information about false negative (FN) and false positive (FP) rates in faecal occult blood testing (FOBt) on attitudes towards screening. 95 people aged 45-59, living in England, read 6 hypothetical vignettes presented online about the use of FOB testing to detect bowel cancer, in which information about FN and FP rates was systematically varied. Both verbal and numeric FN risk information reduced people's interest in screening compared with no FN information. Numeric FN risk information reduced people's perceptions of screening effectiveness and lowered perceived trust in the results of screening compared with both verbal FN information and no FN information. FP information did not affect attitudes towards FOB testing. There was limited evidence that FN information reduced interest and perceptions of screening effectiveness more in educated groups. Numeric FN risk information decreased people's perceptions of screening effectiveness and trust in the results of screening but did not affect people's interest in screening anymore than verbal FN risk information. Numeric FN information could be added to patient information without affecting interest in screening, although this needs to be replicated in a larger, more representative sample. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
Full Text Available Background: Tongue-tie (ankyloglossia is a relatively common finding in the newborn population and represents a significant proportion of breastfeeding problems. Ankyloglossia may result in difficulty with suckling and can lead to poor weight gain, sore nipples, low milk supply, maternal fatigue and frustration.Conclusions: By recognizing ankyloglossia early, the health care team is able to treat breastfeeding problems promptly and proactively. The pediatrician, oral-maxillofacial surgeon, and parents should work together as a team from the time of birth to determine a coordinated plan of treatment. Careful assessment of lingual function is important in selecting the correct treatment. Frenulotomy is indicated in newborns with a short and/or thick frenulum and limited lingual mobility. In newborn infants with ankyloglossia this minimal surgical procedure is an effective therapy for breastfeeding difficulties.
Kunovskaya L. M.
Full Text Available The role and value of the bacterial factor in development pre-natal infection of newborns is studied. It is considered microflora of patrimonial ways of pregnant women, as basic pathogenesis factor of an ascending way infection of newborns. On an example of the spent bacteriological researches correlation communication between microflora of patrimonial ways, placenta and an ascending way infection of newborns is shown. At crops gastric swallowing at newborn children with pre-natal infection of newborns it is ascertained growth aerobic and аanaerobic microflora in the majority (87,7 % supervision in the form of microbes associations gramme-positive coccus Staphylococcus epidermidis and Staphylococcus aureus and Candida. The inclusion in the treatment of Saccharomyces boulardіi contributes to the restoration of intestinal microflora in 90 % of newborns. Found significant growth of the colonies of Bifidobacterium spp. (3.7-4,9 lg CFU/ml and Lactobacillus spp. (7.2 lg CFU/ml.
... 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 ...
Ohene, Sally-Ann; Ireland, Marjorie; McNeely, Clea; Borowsky, Iris Wagman
We sought to examine the relationship between perceived and stated parental expectations regarding adolescents' use of violence, parental use of physical punishment as discipline, and young adolescents' violence-related attitudes and involvement. Surveys were completed by 134 youth and their parents attending 8 pediatric practices. All youth were 10 to 15 years of age and had scored positive on a psychosocial screening test. Multivariate analyses revealed that perceived parental disapproval of the use of violence was associated with a more prosocial attitude toward interpersonal peer violence and a decreased likelihood of physical fighting by the youth. Parental report of whether they would advise their child to use violence in a conflict situation (stated parental expectations) was not associated with the adolescents' attitudes toward interpersonal peer violence, intentions to fight, physical fighting, bullying, or violence victimization. Parental use of corporal punishment as a disciplining method was inversely associated with a prosocial attitude toward interpersonal peer violence among the youth and positively correlated with youths' intentions to fight and fighting, bullying, and violence victimization. Perceived parental disapproval of the use of violence may be an important protective factor against youth involvement in violence, and parental use of physical punishment is associated with both violence perpetration and victimization among youth. Parents should be encouraged to clearly communicate to their children how to resolve conflicts without resorting to violence and to model these skills themselves by avoiding the use of physical punishment.
Sarkodie, Francis; Owusu-Dabo, Ellis; Hassall, Oliver; Bates, Imelda; Bygbjerg, Ib C; Ullum, Henrik
To describe the recalled medical history, clinical manifestations, and treatment of yaws and syphilis by syphilis seroreactive blood donors in Kumasi, Ghana. Of the blood donors at Komfo Anokye Teaching Hospital, Kumasi, Ghana tested with the syphilis rapid diagnostic test (RDT) and later by rapid plasma reagin (RPR) test, 526 were seroreactive. Four hundred and seventy-one (89.5%) of these subjects were confirmed with the Ortho-Vitros Syphilis TP test as the gold standard and were interviewed to determine past or present clinical manifestations of yaws and syphilis. Of the 471 respondent donors, 28 (5.9%) gave a history of skin lesions and sores; four (14.3%) of these subjects, who were all male and RPR-positive, recalled a diagnosis of syphilis. All four reported having had skin lesions/bumps with slow-healing sores, but only one of them had had these symptoms before the age of 15 years. A small proportion of confirmed seroreactive donors in this sample had any recall of symptoms or treatment for yaws or syphilis. These data suggest that clinical questioning adds little further information to the current screening algorithm. The relative contribution of yaws and syphilis to frequent positive tests in endemic areas remains speculative. Copyright © 2016 The Author(s). Published by Elsevier Ltd.. All rights reserved.
Full Text Available Galactosemia is a hereditary disease, the pathogenetic treatment of which is based on dietotherapy. Early diagnosing and the adequate choice of the diet improve the development forecasts for the ill child. The article describes a classical galactosemia case in a newborn. It is shown that despite diagnosing the disease on the second month of life, the adequate selection of etiopathogenetic dietotherapy and etiotropic therapy of the concurrent diseases helped compensate the inborn galactose metabolism defect and optimize the long-term forecast for the child.Key words: inborn metabolism dysfunctions, alactosemia, dietotherapy, newborn children.
Del Mistro, Annarosa; Frayle, Helena; Ferro, Antonio; Callegaro, Susanna; Del Sole, Annamaria; Stomeo, Anna; Cirillo, Emanuela; Fedato, Chiara; Pagni, Silvana; Barzon, Luisa; Zorzi, Manuel
Cervical cancer screening by human papillomavirus (HPV) testing requires the use of additional triage and follow-up analyses. We evaluated women's compliance with and the performance of this strategy in a routine setting. Five cervical service screening programmes in North-East Italy. Eligible women aged 25-64 invited for a new screening episode underwent HPV testing for high risk types (hrHPV by Hybrid Capture 2) and cytology triage. Women with positive HPV and cytology results were referred for colposcopy; women with positive HPV but negative cytology results were referred to 1-year repeat hrHPV testing. Of 46,694 women screened by HPV testing up to December 2011, 3,211 (6.9%) tested hrHPV positive; 45% of these had a positive triage cytology. Those with negative cytology were invited for 1-yr repeat testing. Compliance with invitation was 61.6% at baseline and 85.3% at 1-yr repeat. Rate of persistent hrHPV positivity was 58% (830/1,435). Colposcopy performed in women with a positive hrHPV test at 1-yr repeat accounted for 36% of all colposcopies performed within the screening programmes. Cumulatively, a histological high-grade lesion was detected in 276 women (5.9‰ detection rate), 234 at baseline (85%), and 42 (15%) at 1-yr repeat. Compliance with hrHPV-based screening programmes was high both at baseline and at 1-yr repeat. Compared with the randomized trials, a higher proportion of triage cytology was read as positive, and only a small number of high-grade lesions were detected among the group of hrHPV positive cytology negative women who repeated testing 1-yr after baseline.