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Sample records for prenatal lead screening

  1. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  2. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we

  3. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we exami

  4. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we ex...

  5. Prenatal Genetic Screening Tests

    Science.gov (United States)

    ... cells from the fetus or placenta obtained through amniocentesis or chorionic villus sampling (CVS) . FAQ164 “Prenatal Genetic ... should be followed by a diagnostic test with amniocentesis or CVS. The cell-free DNA screening test ...

  6. Parental duties and prenatal screening: Does an offer of prenatal screening lead women to believe that they are morally compelled to test?

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2012-01-01

    BACKGROUND: in debates around prenatal screening, it is frequently argued that responsible parenthood implies the acquisition of all available medical information about the health of a fetus, and use of this information to benefit the future child. OBJECTIVE: to analyse whether an offer of a

  7. Parental duties and prenatal screening: Does an offer of prenatal screening lead women to believe that they are morally compelled to test?

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2012-01-01

    BACKGROUND: in debates around prenatal screening, it is frequently argued that responsible parenthood implies the acquisition of all available medical information about the health of a fetus, and use of this information to benefit the future child. OBJECTIVE: to analyse whether an offer of a prenata

  8. Parental duties and prenatal screening: Does an offer of prenatal screening lead women to believe that they are morally compelled to test?

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2012-01-01

    BACKGROUND: in debates around prenatal screening, it is frequently argued that responsible parenthood implies the acquisition of all available medical information about the health of a fetus, and use of this information to benefit the future child. OBJECTIVE: to analyse whether an offer of a prenata

  9. Prenatal screening methods for aneuploidies

    Directory of Open Access Journals (Sweden)

    Madhusudan Dey

    2013-01-01

    Full Text Available Aneuploidies are a major cause of perinatal morbidity and mortality. Therefore, it is the most common indication for invasive prenatal diagnosis. Initially, screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high-risk for aneuploidies were offered invasive testing. New research is now focusing on non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. The advantage of this technique is the ability to reduce the risk of miscarriage associated with invasive diagnostic procedures. However, this new technique has its own set of technical limitations and ethical issues at present and careful consideration is required before broad implementation

  10. Prenatal and newborn screening for hemoglobinopathies.

    Science.gov (United States)

    Hoppe, C C

    2013-06-01

    The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identify hemoglobinopathy carriers and offer prenatal diagnostic testing to couples at risk is linked to newborn screening, while in the United States, it is still not universally performed. The structure of screening programs, whether prenatal or postnatal, universal or selective, varies greatly among these countries and within the United States. The laboratory methods used to identify hemoglobinopathies are based on the prevalence of hemoglobinopathies within the population and the type of screening performed. Advances in molecular testing have facilitated the diagnosis of complex thalassemias and sickling disorders observed in ethnically diverse populations. This review summarizes the current approaches and methods used for carrier detection, prenatal diagnosis, and newborn screening.

  11. Rapid Lead Screening Test

    Science.gov (United States)

    ... Vitro Diagnostics Tests Used In Clinical Care Rapid Lead Screening Test Share Tweet Linkedin Pin it More ... reducing the need for a follow-up visit. Lead Risk Links Centers for Disease Control and Prevention ( ...

  12. Prenatal screening: current practice, new developments, ethical challenges.

    Science.gov (United States)

    de Jong, Antina; Maya, Idit; van Lith, Jan M M

    2015-01-01

    Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue.

  13. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening.

    Science.gov (United States)

    van Schendel, Rachèl V; Kleinveld, Johanna H; Dondorp, Wybo J; Pajkrt, Eva; Timmermans, Danielle R M; Holtkamp, Kim C A; Karsten, Margreet; Vlietstra, Anne L; Lachmeijer, Augusta M A; Henneman, Lidewij

    2014-12-01

    Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance.

  14. Knowledge of prenatal screening and psychological management of test decisions

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

    2010-01-01

    OBJECTIVES: To study associations between pregnant women's knowledge of prenatal screening and decisional conflict in deciding whether to participate in first trimester screening for Down's syndrome in a setting of required informed consent and to study associations between knowledge and personal...... level of knowledge for the pregnant women making choices about participation in prenatal screening for Down's syndrome in order to improve psychological management of test decisions. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd....

  15. Advantages of the Quadruple Screen over noninvasive prenatal testing.

    Science.gov (United States)

    Keller, Nathan A; Rijshinghani, Asha

    2016-03-01

    Noninvasive prenatal testing (NIPT) is becoming increasingly popular with some offering it as a primary screen option in all patients in place of serum screening. Serum screening offers insight into placental function, which NIPT does not. Abnormal levels of analytes in the serum screen have been associated with pregnancy complications.

  16. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    Science.gov (United States)

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C

    2015-11-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non

  17. On what grounds do women participate in prenatal screening?

    DEFF Research Database (Denmark)

    Santalahti, P; Aro, A R; Hemminki, E

    1998-01-01

    Along with the rapid biomedical development of prenatal screening tests, target groups' attitudes and decision-making about, and the acceptance of, screening procedures have come into focus. To understand users' decision-making, it is essential to understand users' knowledge and perceptions of a ...

  18. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

    NARCIS (Netherlands)

    van Schendel, R.V.; Kleinveld, J.H.; Dondorp, W.J.; Pajkrt, E.; Timmermans, D.R.M.; Holtkamp, K.C.A.; Karsten, M.; Vlietstra, A.L.; Lachmeijer, A.M.A.; Henneman, L.

    2014-01-01

    Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherla

  19. Prenatal screening for congenital malformations: diagnosis and ...

    African Journals Online (AJOL)

    care of the pregnancy in terms of antenatal care, and referral for birth as ... photographed and only represent a proportion of all the malformed ... KEY WORDS: foetal malformafion, newborn deaths, prenatal care, pregnancy terminafion. Figure 1. Case 1 ... multiple methods, including ultrasound, are combined to make a ...

  20. Providing information about prenatal screening for Down syndrome

    DEFF Research Database (Denmark)

    Skjøth, Mette Maria; Draborg, Eva; Pedersen, Claus Duedal

    2015-01-01

    BACKGROUND: In recent decades there have been advances in the options for prenatal screening. Screening programmes for Down syndrome are well established in many countries. It is important that pregnant women are well informed about the benefits and risks of screening. A variety of interventions...... screening for Down syndrome. DESIGN: SYSTEMATIC REVIEW: METHODS: A systematic search was performed using the PUBMED and EMBASE databases. The search terms included MeSH terms and free text and were combined by Boolean terms (AND, OR) with no restriction on language or time. MAIN OUTCOME MEASURES: Main...... information about prenatal screening for Down syndrome can improve their ability to make an informed choice. This article is protected by copyright. All rights reserved....

  1. Prenatal screening and prenatal diagnosis: contemporary practices in light of the past.

    Science.gov (United States)

    Iltis, Ana S

    2016-06-01

    The 20th century eugenics movement in the USA and contemporary practices involving prenatal screening (PNS), prenatal diagnosis (PND), abortion and preimplantation genetic diagnosis (PGD) share important morally relevant similarities. I summarise some features of the 20th century eugenics movement; describe the contemporary standard of care in the USA regarding PNS, PND, abortion and PGD; and demonstrate that the 'old eugenics' the contemporary standard of care share the underlying view that social resources should be invested to prevent the birth of people with certain characteristics. This comparison makes evident the difficulty of crafting moral arguments that treat some uses of PNS, PND, abortion and PGD as licit and others as illicit.

  2. Prenatal lead exposure and bone growth. Doctoral thesis

    Energy Technology Data Exchange (ETDEWEB)

    Hamilton, J.D.; O' Flaherty, E.J.

    1990-07-24

    An experimental system of lead (7439921) related prenatal and postnatal growth retardation in rats was developed. Sprague-Dawley-rats and Long-Evans-rats were used in these studies. Rats were exposed to lead in their drinking water at up to 1000 parts per million. A significant effect on fetal bone mineralization could not be excluded and there was a definite effect on fetal body weight following maternal lead exposure. Reduced food intake during the first week of lead exposure was the primary determinant of reduced body and skeletal growth in the lead exposed weanling female rats. When maternal lead exposure was continued during lactation a greater degree of lead related growth retardation in rat offspring occurred than when maternal lead exposure was terminated at parturition. Combined prenatal and postnatal lead exposure impaired bone resorption and increased growth plate widths. In studies using matrix induced endochondral bone plaques, locally applied lead enhanced plaque mineralization through comineralization of lead with calcium. When lead was administered in drinking water, plaque mineralization was also enhanced through the comineralization of lead with calcium.

  3. The California Prenatal Screening Program: "options and choices" not "coercion and eugenics".

    Science.gov (United States)

    Flessel, Monica C; Lorey, Fred W

    2011-08-01

    The California Prenatal Screening Program is designed to make prenatal screening available to the state's large and diverse population. The Program provides information to women which will allow them to make informed choices regarding prenatal screening and prenatal diagnosis. Since the Program's inception in 1986, women in California have had the option to participate in prenatal screening or to decline prenatal screening. The California Program offers prenatal diagnostic services to women whose screening tests indicate an increased risk for birth defects, including Down syndrome. Women can decline any or all of these follow-up services. Genetic counseling, diagnostic services, and the presentation of diagnostic results are performed by medical professionals (not State staff) who follow established guidelines for nondirective counseling. Program data clearly demonstrate that women in California have a wide range of options and make a wide range of choices regarding prenatal screening and prenatal diagnosis. California's comprehensive Prenatal Screening Program promotes optimal care for all women within all options and choices. The important and necessary communication among organizations and stakeholders involved in prenatal screening and diagnosis, and in related care for pregnant women and for people with Down syndrome, is not served by misrepresentation and inflammatory rhetoric.

  4. Inadequate syphilis screening among women with prenatal care in a community with a high syphilis incidence.

    Science.gov (United States)

    Trepka, Mary Jo; Bloom, Sharon A; Zhang, Guoyan; Kim, Sunny; Nobles, Robert E

    2006-11-01

    This study was designed to evaluate the extent to which pregnant women in a community with a high syphilis incidence were screened for syphilis according to standard recommendations of twice during prenatal care and at labor and delivery. Labor and delivery records from 4 hospitals in Miami-Dade County, Florida, were abstracted to obtain maternal and prenatal care characteristics and syphilis screening practices. Of the 1991 women, records indicated that 1655 (83%) were screened at least once during prenatal care, 220 (11%) were screened twice during prenatal care before delivery, and 184 (9%) were screened twice during prenatal care and at delivery. Attending a private clinic, having more than adequate prenatal care and having private insurance were associated with not being screened at least twice before delivery. Few women were screened according to standard recommendations, and provider or institutional-related factors affected adequacy of screening.

  5. Prenatal screening costs at a large military treatment facility.

    Science.gov (United States)

    Shiv, Erin; Sale, Taylor J; Simsiman, Amanda; Leininger, William M; Lutgendorf, Monica A

    2017-07-01

    Prenatal screening with cell-free DNA (cfDNA) offers improved detection of Down syndrome (T21) compared to conventional screening. These tests are expensive and have fewer detectable anomalies. Our objective was to investigate potential costs and test performance of screening algorithms when accounting for detectable aneuploidies. This is a cost analysis for a large military treatment facility. Using a theoretical delivery cohort and published performance data, universal screening with cfDNA was compared to sequential screening, comparing T21 to all detectable aneuploidies. Predicted test performance and costs were calculated. A cohort of 3000 deliveries was used. For T21, universal cfDNA is more expensive ($1,346,064) than sequential screening ($244,885), but has a lower false positive rate and avoids 101 invasive diagnostic tests. An additional case of T21 is detected with a marginal cost of $1,101,179. For all detectable aneuploidies, cfDNA is more expensive ($1,353,660) than sequential screening ($239,189), and 59 invasive diagnostic tests are avoided. Sequential screening detects an additional case of aneuploidy, with a cost savings of $1,114,471. Although cfDNA is superior in detecting T21 cases, sequential screening is superior when considering all aneuploidies detectable. The cost increase with universal cfDNA is significant, and is not justified with small improvements in the performance.

  6. Effectiveness of Prenatal Screening for Hemoglobinopathies in a Developing Country.

    Science.gov (United States)

    Choudhuri, Soumita; Sen, Aditi; Ghosh, Malay Kumar; Misra, Sanjay; Bhattacharyya, Maitreyee

    2015-01-01

    The thalassemias are among the most common monogenic diseases worldwide, a national health burden in India. There are estimated 7500-12,000 babies born with β-thalassemia major (β-TM) every year in this country. Couples who are at-risk of having children with hemoglobin (Hb) disorders desired to have the option of avoiding the birth of an affected child by prenatal diagnosis (PND). Thus, the prenatal women are a highly important target group for carrier screening and preventing the birth of thalassemic children in the country. The present study was conducted among 20,883 pregnant women, irrespective of gravida and duration of pregnancy, from the prenatal clinic of Nilratan Sarkar (NRS) Medical College & Hospital, Kolkata, West Bengal, India, from February 2009 to November 2012. Thalassemia carrier status was assessed by high performance liquid chromatography (HPLC) along with red blood cell (RBC) indices. Husbands of all thalassemia carrier women were advised and persuaded to undergo screening for hemoglobinopathies. The couples were counseled to undergo PND if both of them were detected to be thalassemia carriers. The data were statistically analyzed to evaluate the efficacy of this procedure.

  7. Prenatal lead exposure and childhood blood pressure and kidney function.

    Science.gov (United States)

    Skröder, Helena; Hawkesworth, Sophie; Moore, Sophie E; Wagatsuma, Yukiko; Kippler, Maria; Vahter, Marie

    2016-11-01

    Exposure to lead, a common environmental pollutant, is known to cause cardiovascular and nephrotoxic effects in adults. Potential effects of early-life lead exposure on these functions are, however, less well characterized. To assess blood pressure and kidney function in preschool-aged children in relation to prenatal lead exposure. This prospective study in rural Bangladesh measured children's systolic and diastolic blood pressure in triplicate at the follow-up at 4.5±0.11 years. Their kidney function was assessed by the estimated glomerular filtration rate (eGFR), calculated based on serum cystatin C concentrations, and by kidney volume, measured by sonography. Exposure to lead was assessed by concentrations in the mothers' blood (erythrocyte fraction; Ery-Pb) in gestational weeks (GW) 14 and 30, the effects of which were evaluated separately in multivariable-adjusted linear regression analyses. We found no associations between maternal exposure to lead [n~1500 for GW14 and 700 for GW30] and children's blood pressure or eGFR. However, we found an inverse association between late gestation lead and kidney volume, although the sample size was limited (n=117), but not with early gestation lead (n=573). An increase of 85µg/kg in Ery-Pb (median concentration at GW30) was associated with a 6.0cm(3)/m(2) decrease in kidney volume (=0.4SD; p=0.041). After stratifying on gender, there seemed to be a somewhat stronger association in girls. Prenatal lead exposure may cause long-lasting effects on the kidney. This warrants follow-up studies in older children, as well as additional studies in other populations. Copyright © 2016. Published by Elsevier Inc.

  8. Prenatal screening for Down syndrome and for structural congenital anomalies in the Netherlands: Information provision, informed decision-making and participation

    NARCIS (Netherlands)

    M.H.M.H.J.D. Schoonen (Marleen)

    2011-01-01

    textabstractCongenital anomalies are the leading cause of death and morbidity in children under 1 year of age. Down syndrome and neural tube defects are congenital anomalies that may be diagnosed before birth using prenatal tests. In the Netherlands, prenatal screening for Down syndrome and for stru

  9. Prenatal screening for Down syndrome and for structural congenital anomalies in the Netherlands: Information provision, informed decision-making and participation

    NARCIS (Netherlands)

    M.H.M.H.J.D. Schoonen (Marleen)

    2011-01-01

    textabstractCongenital anomalies are the leading cause of death and morbidity in children under 1 year of age. Down syndrome and neural tube defects are congenital anomalies that may be diagnosed before birth using prenatal tests. In the Netherlands, prenatal screening for Down syndrome and for stru

  10. Patients' Knowledge of Prenatal Screening for Trisomy 21.

    Science.gov (United States)

    Sheinis, Michal; Bensimon, Kira; Selk, Amanda

    2017-07-14

    This study's objective was to assess the knowledge of prenatal screening for Trisomy 21 in pregnant women in one institution in Canada. A cross-sectional survey measuring demographics, knowledge of screening, and health literacy, was administered to pregnant women. Of the 135 women who completed the survey, 74% had adequate knowledge of Trisomy 21 and associated screening procedures. Twenty-eight point one percent of women did not receive any counseling. Overall, 29.5% of women did not know that the screening test was optional and 10.2% of women underwent screening prior to having been counseled. Multigravidity (p < 0.05) and prior counseling (p < 0.001) were positively correlated with knowledge while first language other than English (p < 0.001) was negatively correlated with knowledge. Given these findings, an effort needs to be made on the part of health care providers to increase counseling rates to 100%, stressing the optional nature of the test to attain true informed consent.

  11. The Yugoslavia Prospective Lead Study: contributions of prenatal and postnatal lead exposure to early intelligence.

    Science.gov (United States)

    Wasserman, G A; Liu, X; Popovac, D; Factor-Litvak, P; Kline, J; Waternaux, C; LoIacono, N; Graziano, J H

    2000-01-01

    To investigate associations between the timing of lead (Pb) exposure on early intelligence, we examined the results of psychometric evaluations at ages 3, 4, 5, and 7 years, from 442 children whose mothers were recruited during pregnancy from a smelter town and a non-lead-exposed town in Yugoslavia. We compared the relative contribution of prenatal blood lead (BPb) with that of relative increases in BPb in either the early (0-2 years) or the later (from 2 years on) postnatal period to child intelligence measured longitudinally at ages 3 and 4 (McCarthy GCI), 5 (Wechsler Preschool and Primary Scale of Intelligence-Revised, WPPSI-R IQ), and 7 (Wechsler Intelligence Scale for Children-version III, WISC-III IQ), controlling for: Home Observation for Measurement of the Environment (HOME) quality; maternal age, intelligence, education, and ethnicity; and birthweight and gender. Elevations in both prenatal and postnatal BPb were associated with small decrements in young children's intelligence.

  12. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.

    Science.gov (United States)

    Dave, Usha; Shetty, Dhanlaxmi

    2014-02-01

    Phenotypic variability and the lack of a diagnostic marker have complicated the rapid diagnosis and genetic counseling for Cornelia de Lange syndrome (CdLS). The clinical features of CdLS are striking and easily recognizable by characteristic facial dysmorphism, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities with severe mental retardation. The molecular diagnosis is essential for predicting prognosis and genetic counseling in the affected family, especially while planning the next pregnancy. We report here from India six cases of CdLS and how precise mutational screening in two cases helped in prenatal diagnosis and proved significant in prevention of recurrence in the affected family.

  13. Screening of potential biomarkers for prenatal diagnosis of trisomy 21.

    Science.gov (United States)

    Ma, Ke; Li, Feng; Yu, Yang; Li, Haibo

    2017-05-01

    We aimed to identify key genes located on chromosome 21 as potential biomarkers for prenatal diagnosis of trisomy 21 (Ts21). The microarray data of GSE48051, including 10 cultivated amniocyte samples with Ts21 and 9 controls with normal euploid constitution, was obtained from Gene Expression Omnibus database. The differentially expressed genes (DEGs) in cultivated amniocyte samples with Ts21 compared to normal controls were screened using limma package. Then, we performed GO enrichment analysis using DAVID and chromosomal location of DEGs based on the information of the University of California Santa Cruz (UCSC) Genome Browser Database. Finally, protein-protein interaction (PPI) network analysis was performed using STRING. Total 155 DEGs in cultivated amniocyte samples with Ts21 were identified, including 89 up- and 66 down-regulated DEGs. The over-represented GO terms of DEGs were mainly related with apoptosis, programmed cell death and cell death. In total, 13 DEGs were located on chromosome 21, thereinto, only 6 DEGs were included into the PPI network, including superoxide dismutase 1 (SOD1), phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), downstream neighbour of SON (DONSON), ATP synthase, H + transporting, mitochondrial F1 complex, O subunit (ATP5O), chromatin assembly factor 1, subunit B (p60) (CHAF1B) and proteasome (prosome, macropain) assembly chaperone 1 (PSMG1). Our results suggest that SOD1, GART, DONSON, ATP5O, CHAF1B and PSMG1 may play important roles in the pathogenesis of Down syndrome and may serve as potential biomarkers for prenatal diagnosis of Ts21.

  14. Non―invasive prenatal screening for chromosomal abnormalities ...

    African Journals Online (AJOL)

    Cláudia Amorim Costa

    2016-08-27

    Aug 27, 2016 ... time its implementation as a universal prenatal aneuploidy screening. ... reaction. * Corresponding author at: Rua Doutor Anto´nio Macedo 309, 3° esquerdo. ..... Recently, Wald and Bestwick proposed a reflex DNA test-.

  15. Clients' psychosocial communication and midwives' verbal and nonverbal communication during prenatal counseling for anomaly screening

    NARCIS (Netherlands)

    Martin, L.; Gitsels-van der Wal, J.T.; Pereboom, M.T.; Spelten, E.R.; Hutton, E.K.; Dulmen, A.M. van

    2016-01-01

    OBJECTIVES: This study focuses on facilitation of clients' psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives' psychosocial and affective communication, client-directed gaze and counseling du

  16. Clients’ psychosocial communication and midwives’ verbal and nonverbal communication during prenatal counseling for anomaly screening.

    NARCIS (Netherlands)

    Martin, L.; Gitsels-van der Wal, J.T.; Pereboom, M.T.R.; Spelten, E.R.; Hutton, E.K.; Dulmen, S. van

    2016-01-01

    Objectives: This study focuses on facilitation of clients’ psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives’ psychosocial and affective communication, client-directed gaze and counseling du

  17. Clients’ psychosocial communication and midwives’ verbal and nonverbal communication during prenatal counseling for anomaly screening.

    NARCIS (Netherlands)

    Martin, L.; Gitsels-van der Wal, J.T.; Pereboom, M.T.R.; Spelten, E.R.; Hutton, E.K.; Dulmen, S. van

    2016-01-01

    Objectives: This study focuses on facilitation of clients’ psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives’ psychosocial and affective communication, client-directed gaze and counseling du

  18. Measurement of fetal maxillary and mandibular angles for first-trimester prenatal screening among Taiwanese women

    Directory of Open Access Journals (Sweden)

    Fan-Hlan Koo

    2014-08-01

    Conclusion: Normative data for ultrasonographic measurements of maxillary and mandibular angles among the Taiwanese population are presented. Our results may serve as reference values in congenital anomaly screening during prenatal examination.

  19. Decrease of perinatal mortality associated with congenital anomalies after prenatal screening was introduced in the Netherlands

    DEFF Research Database (Denmark)

    Faber, H. H.; Bouman, K.; Walle, H. E. K.

    2015-01-01

    decreased in the northern Netherlands since 2005. The introduction of prenatal screening in 2007 markedly contributed to this trend: pregnancies involving CA were terminated more often, leading to a decrease in the perinatal mortality rate. By 2011, the perinatal mortality rate associated with CA...... and stillbirths from 20 weeks' gestation onwards, excluding terminations of pregnancy for foetal anomalies (TOPFA). RESULTS: A total of 84.832 cases of CA were included from 13 European registries covering a total of 3.1million births. In Europe the perinatalmortality associated with CA decreased from an average...... in the Netherlands until 2007. We have analysed data for a 14-year period from the EUROCAT registries to investigate the effect of the introduction of screening for CA on the perinatal mortality rate in the Netherlands and compared the results with those from other European registries. METHODS: We used data from...

  20. Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.

    Science.gov (United States)

    Olney, Richard S; Ailes, Elizabeth C; Sontag, Marci K

    2015-04-01

    In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes.

  1. Decision‐making process of prenatal screening described by pregnant women and their partners

    National Research Council Canada - National Science Library

    Wätterbjörk, Inger; Blomberg, Karin; Nilsson, Kerstin; Sahlberg‐Blom, Eva

    2015-01-01

    ... describe complex feelings regarding the risk assessment. The decision making about prenatal screening has been described as easy by some women who viewed the decision as a mere formality and a confirmation that all is well. Women have also described decision making on screening as a process in which they considered their own...

  2. Prenatal lead exposure modifies the impact of maternal self-esteem on children's inattention behavior

    Science.gov (United States)

    Xu, Jian; Hu, Howard; Wright, Rosalind; Sánchez, Brisa N.; Schnaas, Lourdes; Bellinger, David C.; Park, Sung Kyun; Martínez, Sandra; Hernández-Avila, Mauricio; Téllez-Rojo, Martha Maria; Wright, Robert O.

    2015-01-01

    Objective To prospectively evaluate the association of maternal self-esteem measured when their offspring were toddlers with the subsequent development of attention-deficit-hyperactivity-disorder (ADHD)-like behavior in their school-age offspring and the potential modifying effects of prenatal lead exposure. Study design We evaluated a subsample of 192 mother-child pairs from a long-running birth-cohort project that enrolled mothers in Mexico from 1994 to 2011. Prenatal lead exposure was assessed using cord blood lead and maternal bone lead around delivery (tibia and patella lead, measured by K-x-ray-fluorescence). When children were 2 years old, maternal self-esteem was measured using the Coopersmith-Self-esteem-Inventory. When children were 7-to-15 years old, children's blood lead levels and ADHD symptoms were assessed, and Conners’ Parental-Rating-Scales-Revised (CPRS-R) and Behavior-Rating-Inventory-of-Executive-Function-Parent Form (BRIEF-P) were used as measures of ADHD-like behavior. Results Adjusting for family economic status, marital status, maternal education and age, child's age and sex, and children's current blood lead levels, increased maternal self-esteem was associated with reduced child inattention behavior. Compared with those among high prenatal lead exposure (P25-P100), this association was stronger among low prenatal lead exposure groups (P1-P25, p-values for the interaction effects between prenatal lead exposure and maternal self-esteem levels < 0.10). Each 1-point increase in maternal self-esteem scores was associated with 0.6-to-1.3-point decrease in CPRS-R and BRIEF-P T-scores among groups with low cord blood lead and patella lead (P1-P25). Conclusions Children experiencing high maternal self-esteem during toddlerhood were less likely to develop inattention behavior at school-age. Prenatal lead exposure may play a role in attenuating this protective effect. PMID:26047683

  3. Prenatal Lead Exposure Modifies the Impact of Maternal Self-Esteem on Children's Inattention Behavior.

    Science.gov (United States)

    Xu, Jian; Hu, Howard; Wright, Rosalind; Sánchez, Brisa N; Schnaas, Lourdes; Bellinger, David C; Park, Sung Kyun; Martínez, Sandra; Hernández-Avila, Mauricio; Téllez-Rojo, Martha Maria; Wright, Robert O

    2015-08-01

    To prospectively evaluate the association of maternal self-esteem measured when their offspring were toddlers with the subsequent development of attention deficit hyperactivity disorder (ADHD)-like behavior in their school-age offspring and the potential modifying effects of prenatal lead exposure. We evaluated a subsample of 192 mother-child pairs from a long-running birth-cohort project that enrolled mothers in Mexico from 1994-2011. Prenatal lead exposure was assessed using cord blood lead and maternal bone lead around delivery (tibia and patella lead, measured by K-x-ray-fluorescence). When children were 2 years old, maternal self-esteem was measured using the Coopersmith Self-Esteem Inventory. When children were 7-15 years old, children's blood lead levels and ADHD symptoms were assessed, and Conners' Parent Rating Scale-Revised and Behavior Rating Inventory of Executive Function-Parent Form were used as measures of ADHD-like behavior. Adjusting for family economic status, marital status, maternal education and age, child's age and sex, and children's current blood lead levels, increased maternal self-esteem was associated with reduced child inattention behavior. Compared with those among high prenatal lead exposure (P25-P100), this association was stronger among low prenatal lead exposure groups (P1-P25, P values for the interaction effects between prenatal lead exposure and maternal self-esteem levels of maternal self-esteem scores was associated with 0.6- to 1.3-point decrease in Conners' Parent Rating Scale-Revised and Behavior Rating Inventory of Executive Function-Parent Form T-scores among groups with low cord blood lead and patella lead (P1-P25). Children experiencing high maternal self-esteem during toddlerhood were less likely to develop inattention behavior at school age. Prenatal lead exposure may play a role in attenuating this protective effect. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Georgia prenatal care providers' perceptions of barriers to sexually transmitted disease screening.

    Science.gov (United States)

    Barnes, Rheta S; Anderson, Lynda A; Weisbord, Joanna S; Koumans, Emilia; Toomey, Kathleen E

    2003-09-01

    Evidence suggests that sexually transmitted disease (STD) screening during pregnancy is not optimal. No published studies have systematically examined barriers that hinder routine STD screening. This study examines prenatal care providers' perceptions about barriers to routine STD screening of pregnant women. Using a conceptual framework, four a priori barrier categories were developed: provider, patient, organizational, and structural. Responses to a question on barriers to STD screening in a 1998 mail survey of Georgia prenatal care providers were qualitatively classified into one of these categories. Of the 293 providers who responded, 71% identified structural barriers, with 52% citing inadequate reimbursement. These respondents were most likely to name barriers categorized as structural, not patient, provider, or organization issues. Efforts to improve STD screening of pregnant women should include a focus on structural level interventions, such as instituting health care policies that provide adequate reimbursement for routine STD screening during pregnancy.

  5. Participation in prenatal screening tests and intentions concerning selective termination in Finnish maternity care

    DEFF Research Database (Denmark)

    Santalahti, P; Hemminki, E; Aro, A R

    1999-01-01

    AIMS: The study examined how prenatal screening tests are presented to women, factors associated with women's participation in screening, their experience of decision-making and intentions concerning pregnancy termination, and hospital data on rates of selective terminations. METHODS: Questionnai...... in screening and with intentions about selective termination, women's perceptions of lives of the disabled should receive more attention in future studies.......AIMS: The study examined how prenatal screening tests are presented to women, factors associated with women's participation in screening, their experience of decision-making and intentions concerning pregnancy termination, and hospital data on rates of selective terminations. METHODS...... asking about selective terminations following detected fetal disorders were sent in 1993 to all public hospitals with obstetrics or gynaecology departments (response rate 100%). RESULTS: The serum screening test had usually been offered to women as a free choice, but for 22% of them it was presented...

  6. From Down syndrome screening to noninvasive prenatal testing: 20 years' experience in Taiwan.

    Science.gov (United States)

    Shaw, S W Steven; Chen, Chih-Ping; Cheng, Po-Jen

    2013-12-01

    Down syndrome is the most common autosomal chromosome aneuploidy. The prenatal Down syndrome screening protocol has been known in Taiwan for the past 20 years. The maternal serum double markers required for the screening test was first implemented into the general prenatal check-up back in 1994, where it had around a 60% detection rate at a 5% false positive rate. The first trimester combined test was started in 2005, and the maternal serum quadruple test was introduced in 2008 to replace the previous double test. The overall detection rate for the current screening strategies (first trimester combined or second trimester quadruple test) in Taiwan ranges between 80% and 85% at a fixed 5% false positive rate. Noninvasive prenatal testing (NIPT) is the latest powerful fetal aneuploidy detection method and has become commercially available in Taiwan starting from 2013. The sensitivity and specificity for NIPT are very high (both over 99%) according to large worldwide studies. Our preliminary data for NIPT from 11 medical centers in Taiwan have also shown a 100% detection rate for Down syndrome and Edwards syndrome, respectively. Invasive chromosome studies such as amniocentesis or chorionic villus sampling cannot be replaced by NIPT, and all prenatal screening and NIPT results require confirmation using invasive testing. This review discusses the Down syndrome screening method assessments and the progress of NIPT in Taiwan.

  7. Association of prenatal and childhood blood lead concentrations with criminal arrests in early adulthood.

    Directory of Open Access Journals (Sweden)

    John Paul Wright

    2008-05-01

    Full Text Available BACKGROUND: Childhood lead exposure is a purported risk factor for antisocial behavior, but prior studies either relied on indirect measures of exposure or did not follow participants into adulthood to examine the relationship between lead exposure and criminal activity in young adults. The objective of this study was to determine if prenatal and childhood blood lead concentrations are associated with arrests for criminal offenses. METHODS AND FINDINGS: Pregnant women were recruited from four prenatal clinics in Cincinnati, Ohio if they resided in areas of the city with a high concentration of older, lead-contaminated housing. We studied 250 individuals, 19 to 24 y of age, out of 376 children who were recruited at birth between 1979 and 1984. Prenatal maternal blood lead concentrations were measured during the first or early second trimester of pregnancy. Childhood blood lead concentrations were measured on a quarterly and biannual basis through 6.5 y. Study participants were examined at an inner-city pediatric clinic and the Cincinnati Children's Hospital Medical Center in Cincinnati, Ohio. Total arrests and arrests for offenses involving violence were collected from official Hamilton County, Ohio criminal justice records. Main outcomes were the covariate-adjusted rate ratios (RR for total arrests and arrests for violent crimes associated with each 5 microg/dl (0.24 micromol/l increase in blood lead concentration. Adjusted total arrest rates were greater for each 5 microg/dl (0.24 micromol/l increase in blood lead concentration: RR = 1.40 (95% confidence interval [CI] 1.07-1.85 for prenatal blood lead, 1.07 (95% CI 0.88-1.29 for average childhood blood lead, and 1.27 (95% CI 1.03-1.57 for 6-year blood lead. Adjusted arrest rates for violent crimes were also greater for each 5 microg/dl increase in blood lead: RR = 1.34 (95% CI 0.88-2.03 for prenatal blood lead, 1.30 (95% CI 1.03-1.64 for average childhood blood lead, and 1.48 (95% CI 1

  8. Copy-number variation and false positive prenatal aneuploidy screening results.

    Science.gov (United States)

    Snyder, Matthew W; Simmons, LaVone E; Kitzman, Jacob O; Coe, Bradley P; Henson, Jessica M; Daza, Riza M; Eichler, Evan E; Shendure, Jay; Gammill, Hilary S

    2015-04-23

    Investigations of noninvasive prenatal screening for aneuploidy by analysis of circulating cell-free DNA (cfDNA) have shown high sensitivity and specificity in both high-risk and low-risk cohorts. However, the overall low incidence of aneuploidy limits the positive predictive value of these tests. Currently, the causes of false positive results are poorly understood. We investigated four pregnancies with discordant prenatal test results and found in two cases that maternal duplications on chromosome 18 were the likely cause of the discordant results. Modeling based on population-level copy-number variation supports the possibility that some false positive results of noninvasive prenatal screening may be attributable to large maternal copy-number variants. (Funded by the National Institutes of Health and others.).

  9. Ethnic differences in informed decision-making about prenatal screening for Down's syndrome

    NARCIS (Netherlands)

    M.P. Fransen; M.L. Essink-Bot; I. Vogel; J.P. Mackenbach; E.A.P. Steegers; H.I.J. Wildschut

    2010-01-01

    BACKGROUND: The aim of this study was to assess ethnic variations in informed decision-making about prenatal screening for Down's syndrome and to examine the contribution of background and decision-making variables. METHODS: Pregnant women of Dutch, Turkish and Surinamese origin were recruited betwe

  10. Application value of OSCAR syetem in prenatal screen of chromosome disease and severeα-thalassemia

    Institute of Scientific and Technical Information of China (English)

    Yi Ling; Song Jin; Chun-Xia Hu; Rui-XiANan; Fu Huo; Ning Zhang; Tu-Zhao Xie; Qun-Hua Shi

    2016-01-01

    Objective:To study the value of combining serum and ultrasound nuchal translucency thickness (NT) measurement for One-stop Clinic of Risk Assessment (OSCAR) in Hainan Province in prenatal diagnose of chromosomal disorders and thalassemia diagnosis.Methods:The patients of 11-13+ 6 weeks in our hospital for regularly standardized checking were selected for OSCAR prenatal screening, the patients of the Down's and severe thalassemia at high risk were selected for prenatal diagnosis of fetal karyotype and thalassemia gene checking, then pregnancy outcomes was followed up. Rate of OSCAR in fetal chromosomal disease and the diagnostic value in fetal thalassemia was detected.Results:The positive rate of OSCAR Down's screening was 9.8%, the detection rate was 90%. The incidence of chromosomal abnormalities and severe alpha thalassemia were increased as NT thickening and tricuspid or venous ductus regurgitation.Conclusions: OSCAR Down's screening system for early pregnancy is noninvasive, affordable and it is preferred prenatal screening through comprehensive evaluation.

  11. The influence of prenatal screening and termination of pregnancy on perinatal mortality rates

    NARCIS (Netherlands)

    Pal-de Bruin, K.M. van der; Graafmans, W.; Biermans, M.C.J.; Richardus, J.H.; Zijlstra, A.G.; Reefhuis, J.; Mackenbach, J.P.; Verloove-Vanhorick, S.P.

    2002-01-01

    Objectives This study concerns the possible effect of practice of prenatal screening of congenital anomalies followed by termination of pregnancy on the perinatal mortality between European countries. Methods Data of nine region-specific EUROCAT registries from five European countries were used to c

  12. Ethnic differences in informed decision-making about prenatal screening for Down's syndrome

    NARCIS (Netherlands)

    Fransen, M.P.; Essink-Bot, M.L.; Vogel, I.; Mackenbach, J.P.; Steegers, E.A.P.; Wildschut, H.I.J.

    2010-01-01

    BACKGROUND: The aim of this study was to assess ethnic variations in informed decision-making about prenatal screening for Down's syndrome and to examine the contribution of background and decision-making variables. METHODS: Pregnant women of Dutch, Turkish and Surinamese origin were recruited

  13. Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening.

    Science.gov (United States)

    Schaller, Jean; Moser, Hugo; Begleiter, Michael L; Edwards, Janice

    2007-01-01

    Families affected by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were surveyed to elicit attitudes toward prenatal, presymptomatic and carrier testing, and newborn screening in order to determine the level of support that these families have for current and future genetic testing protocols. Identifying attitudes toward genetic testing, including newborn screening, is especially important because of new data regarding therapeutic options and the possible addition of ALD to newborn screening regimens. The Kennedy Krieger Institute (KKI) database identified 327 prospective participants. Families that were willing to participate in the study received an anonymous questionnaire for completion. Frequencies were generated using SPSS software for Windows. Questionnaires were returned from 128 families for a response rate of 39%. Sons who were at risk for inheriting the ALD gene would be tested by 93% of respondents, and 89.3% would ideally have this testing performed prenatally or in the newborn period. Eighty-nine percent would test an at-risk daughter and 51.2% would ideally have this testing performed prenatally or shortly after birth. ALD newborn screening for males and females was supported by 90% of respondents. If newborn screening for ALD/AMN commences, or there is a new diagnosis of ALD, genetic professionals need to be prepared to have extensive conversations with families regarding the benefits and limitations of current therapeutic and genetic testing options.

  14. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India.

    Science.gov (United States)

    Tamhankar, Parag M; Agarwal, Sarita; Arya, Vandana; Kumar, Ravindra; Gupta, U R; Agarwal, S S

    2009-01-01

    To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India. Premarital testing for thalassemia carrier state was carried out in (1) extended family members (EFM) of diagnosed cases of thalassemia/hemoglobinopathies, (2) unmarried adult cases of anemia attending the hospitals' outpatient department (OPD) and (3) adult college students (CG). Hemoglobin, red cell indices were measured by a cell counter and hemoglobin fractionation was carried out by high performance liquid chromatography (HPLC). In cases with HbA2>3.5%, or with variant hemoglobin, mutation screen was done by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). In high-risk prospective couples, premarital genetic counseling was done and prenatal diagnosis possibilities were explained. The yield of carriers from EFM, OPD and CG groups was 78.17% (308/394), 19.51% (263/1348) and 4.04% (38/939), respectively. The number of prospective high-risk couples detected were 154, 48 and 2 from EFM, OPD and CG, respectively. As much as 99% of prospective carrier couples married even after knowing their high-risk status and opted for prenatal diagnosis. The program averted the birth of 33 thalassemic children; 28 in EFM group (by screening of 394 individuals), 4 in the OPD group (by screening 1348 anemic patients), and 1 in CG group (by screening of 939 students). Premarital screening in extended family members, followed by prenatal diagnosis is acceptable and the most effective strategy for control of thalassemia in developing countries like India. Copyright (c) 2008 John Wiley & Sons, Ltd.

  15. Diagnostic performance and costs of contingent screening models for trisomy 21 incorporating non-invasive prenatal testing.

    Science.gov (United States)

    Maxwell, Susannah; O'Leary, Peter; Dickinson, Jan E; Suthers, Graeme K

    2017-08-01

    Contingent screening for trisomy 21 using non-invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the detection of trisomy 21. To describe the diagnostic and economic performance of prenatal screening models for trisomy 21 that use non-invasive prenatal testing as a contingent screen across a range of combined first trimester screening risk cut-offs from a public health system perspective. Using a hypothetical cohort of 300 000 pregnancies, we modelled the outcomes of 25 contingent non-invasive prenatal testing screening models and compared these to conventional screening, offering women with a high-risk (1 > 300) combined first trimester screening result an invasive test. The 25 models used a range of risk cut-offs. High-risk women were offered invasive testing. Intermediate-risk women were offered non-invasive prenatal testing. We report the cost of each model, detection rate, costs per diagnosis, invasive tests per diagnosis and the number of fetal losses per diagnosis. The cost per prenatal diagnosis of trisomy 21 using the conventional model was $51 876 compared to the contingent models which varied from $49 309-66 686. The number of diagnoses and cost per diagnosis increased as the intermediate-risk threshold was lowered. Results were sensitive to trisomy 21 incidence, uptake of testing and cost of non-invasive prenatal testing. Contingent non-invasive prenatal testing models using more sensitive combined first trimester screening risk cut-offs than conventional screening improved the detection rate of trisomy 21, reduced procedure-related fetal loss and could potentially be provided at a lower cost per diagnosis than conventional screening. © 2017 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  16. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

    Science.gov (United States)

    Sugarman, Elaine A; Nagan, Narasimhan; Zhu, Hui; Akmaev, Viatcheslav R; Zhou, Zhaoqing; Rohlfs, Elizabeth M; Flynn, Kerry; Hendrickson, Brant C; Scholl, Thomas; Sirko-Osadsa, Deborah Alexa; Allitto, Bernice A

    2012-01-01

    Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of ~1 in 10,000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive disorder. The American College of Medical Genetics has recommended population carrier screening for SMA, regardless of race or ethnicity, to facilitate informed reproductive options, although other organizations have cited the need for additional large-scale studies before widespread implementation. We report our data from carrier testing (n = 72,453) and prenatal diagnosis (n = 121) for this condition. Our analysis of large-scale population carrier screening data (n = 68,471) demonstrates the technical feasibility of high throughput testing and provides mutation carrier and allele frequencies at a level of accuracy afforded by large data sets. In our United States pan-ethnic population, the calculated a priori carrier frequency of SMA is 1/54 with a detection rate of 91.2%, and the pan-ethnic disease incidence is calculated to be 1/11,000. Carrier frequency and detection rates provided for six major ethnic groups in the United States range from 1/47 and 94.8% in the Caucasian population to 1/72 and 70.5% in the African American population, respectively. This collective experience can be utilized to facilitate accurate pre- and post-test counseling in the settings of carrier screening and prenatal diagnosis for SMA.

  17. NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

    Science.gov (United States)

    Wilson, K L; Czerwinski, J L; Hoskovec, J M; Noblin, S J; Sullivan, C M; Harbison, A; Campion, M W; Devary, K; Devers, P; Singletary, C N

    2013-02-01

    The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non-invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient's entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.

  18. Impact on spina bifida screening of shifting prenatal Down syndrome maternal serum screening from the second trimester to the first.

    Science.gov (United States)

    Spaggiari, Emmanuel; Dreux, Sophie; Stirnemann, Julien J; Czerkiewicz, Isabelle; Houfflin-Debarge, Véronique; Segonne, Alexandra; Jouannic, Jean-Marie; Ville, Yves; Muller, Francoise

    2017-07-01

    Shifting screening for trisomy 21 to the first trimester has resulted in the loss of maternal serum alpha-fetoprotein screening for spina bifida. The aim of this study was to study the impact on open spina bifida prenatal screening. We reviewed prenatally diagnosed cases of spina bifida over three years: 2009 (only second-trimester screening, MSM2T), 2010 (transient period) and 2011 (majority first-trimester screening, MSM1T). Cases were assigned to three groups based on maternal serum markers (MSM2T, MSM1T and 'not performed'). Gestational age at diagnosis of spina bifida was compared between these three groups and between the years 2009 and 2011. Median gestational ages at diagnosis of the 742 spina bifida cases between the three groups were 22 weeks [18(+6) -23], 22(+1)  weeks [21(+3) -23] and 21(+4)  weeks [14(+1) -23], respectively (P Spina bifida diagnosis at 14-20 weeks declined from 38.8% in 2009 to 13.3% in 2011 (P spina bifida and resulted in a decrease of 25% of cases of spina bifida detected before 20 weeks. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  19. [Prenatal ultrasound diagnosis of complex heart abnormality in routine screening].

    Science.gov (United States)

    Kronich, W; Salzer-Muhar, U; Strigl, E; Gerstner, G J

    1990-02-01

    Case report on a severe cardial malformation associated with trisomia 21, diagnosed by ultrasound-screening in the 34th week of gestation. Further diagnostic evaluation of the case and therapeutic management are described. The problems of modern malformation diagnostics by routine ultrasound scanning in pregnancy are discussed.

  20. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme

    OpenAIRE

    Ravindra Kumar; Vandana Arya; Sarita Agarwal

    2015-01-01

    Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity) play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness ...

  1. Japan Turns Pro-Life: Recent Change in Reproductive Health Policy and Controversies over Prenatal Screening

    Directory of Open Access Journals (Sweden)

    Etsuji Okamoto

    2014-02-01

    Full Text Available Japan, known as a pro-choice country in terms of abortion, is currently facing the increase of “selective abortions” thanks to new prenatal screening. Efforts to restrict proliferation of new technology has not been successful and it is likely that Japan will turn pro-life by strictly enforcing the Maternity Protection Act (MPA, which prohibits abortions due to “fetal cause”.

  2. Sexually transmitted diseases during pregnancy: screening, diagnostic, and treatment practices among prenatal care providers in Georgia.

    Science.gov (United States)

    Weisbord, J S; Koumans, E H; Toomey, K E; Grayson, C; Markowitz, L E

    2001-01-01

    Sexually transmitted diseases (STD) during pregnancy are associated with adverse outcomes. We conducted a prenatal care provider survey to determine STD screening, diagnosis, and treatment practices. Standard questionnaires were mailed to Georgia-licensed obstetrician/ gynecologists, family practitioners, and nurse-midwives (N = 3,082) in 1998. Of the 1,300 care providers who returned the survey, 565 (44%) provided prenatal care, 390 (57%) were male, and 396 (70%) were obstetrician/ gynecologists. Overall, 553 prenatal care providers (98%) reported screening all pregnant patients for syphilis, 551 (98%) for hepatitis B, 501 (89%) for trichomonas, 474 (84%) for human immunodeficiency virus (HIV), 401 (71%) for gonorrhea, 403 (71%) for chlamydia, 475 (84%) for group B streptococci, and 130 (23%) for bacterial vaginosis (BV) (high risk). Less than 10% used amplification tests for chlamydia or gonorrhea. Most providers used appropriate regimens to treat STD in pregnant women. A written office policy on testing for BV or HIV was associated with increased screening. Provider education is needed about diagnosis and treatment of STD during pregnancy.

  3. ACMG statement on noninvasive prenatal screening for fetal aneuploidy.

    Science.gov (United States)

    Gregg, Anthony R; Gross, S J; Best, R G; Monaghan, K G; Bajaj, K; Skotko, B G; Thompson, B H; Watson, M S

    2013-05-01

    Noninvasive assessment of the fetal genome is now possible using next-generation sequencing technologies. The isolation of fetal DNA fragments from maternal circulation in sufficient quantity and sizes, together with proprietary bioinformatics tools, now allows patients the option of noninvasive fetal aneuploidy screening. However, obstetric care providers must become familiar with the advantages and disadvantages of the utilization of this approach as analysis of cell-free fetal DNA moves into clinical practice. Once informed, clinicians can provide efficient pretest and posttest counseling with the goal of avoiding patient harm. It is in the public's best interest that test results contain key elements and that laboratories adhere to established quality control and proficiency testing standards. The analysis of cell-free fetal DNA in maternal circulation for fetal aneuploidy screening is likely the first of major steps toward the eventual application of whole fetal genome/whole fetal exome sequencing.

  4. Undergoing prenatal screening for Down's syndrome: presentation of choice and information in Europe and Asia.

    Science.gov (United States)

    Hall, Sue; Chitty, Lyn; Dormandy, Elizabeth; Hollywood, Amelia; Wildschut, Hajo I J; Fortuny, Albert; Masturzo, Bianca; Santavý, Jiøí; Kabra, Madhulika; Ma, Runmei; Marteau, Theresa M

    2007-05-01

    To date, studies assessing whether the information given to people about screening tests facilitates informed choices have focussed mainly on the UK, US and Australia. The extent to which written information given in other countries facilitates informed choices is not known. The aim of this study is to describe the presentation of choice and information about Down's syndrome in written information about prenatal screening given to pregnant women in five European and two Asian countries. Leaflets were obtained from clinicians in UK, Netherlands, Spain, Italy, Czech Republic, China and India. Two analyses were conducted. First, all relevant text relating to the choice about undergoing screening was extracted and described. Second, each separate piece of information or statement about the condition being screened for was extracted and then coded as either positive, negative or neutral. Only Down's syndrome was included in the analysis since there was relatively little information about other conditions. There was a strong emphasis on choice and the need for discussion about prenatal screening tests in the leaflets from the UK and Netherlands. The leaflet from the UK gave most information about Down's syndrome and the smallest proportion of negative information. By contrast, the Chinese leaflet did not mention choice and gave the most negative information about Down's syndrome. Leaflets from the other countries were more variable. This variation may reflect cultural differences in attitudes to informed choice or a failure to facilitate informed choice in practice. More detailed studies are needed to explore this further.

  5. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience.

    Science.gov (United States)

    Marek, Jan; Tomek, Viktor; Skovránek, Jan; Povysilová, Viera; Samánek, Milan

    2011-01-01

    To determine the prevalence and spectrum of congenital heart disease (CHD) and the impact of a national prenatal ultrasound screening programme on outcome in a well-characterised population. A comprehensive registry was created of all paediatric and fetal patients with CHD over a 21-year period (1986-2006) in the Czech Republic. The centralised healthcare system enabled confirmation of prenatal and postnatal findings clinically and by post mortem. In the entire cohort of 9475 fetuses referred for detailed cardiac evaluation, 1604 (16.9%) had CHD, of which 501 (31.2%) had additional extracardiac anomalies. In the pregnancies which continued, 59 (8.6%) of 685 fetuses died in utero, and 626 (91.4%) babies were born alive. Prenatal detection rate was highest in double outlet right ventricle (77.3%) and hypoplastic left heart (50.6%). Detection rate increased significantly (p<0.001) for 12/17 lesions comparing 1986-1999 and 2000-2006. In recent years, detection of hypoplastic left heart reached 95.8% while transposition of the great arteries was diagnosed antenatally in only 25.6%. The nationwide prenatal ultrasound screening programme enabled detection of major cardiac abnormalities in 1/3 of patients born with any CHD and 80% of those with critical forms. Nevertheless, owing to the severity of lesions and associated extracardiac anomalies, the overall mortality of antenatally diagnosed CHD remains high. These findings are important for the understanding natural history of CHD for the establishing of screening programmes in Europe.

  6. Cost-effectiveness of prenatal screening strategies for congenital heart disease

    Science.gov (United States)

    Pinto, N. M.; Nelson, R.; Puchalski, M.; Metz, T. D.; Smith, K. J.

    2017-01-01

    Objective The economic implications of strategies to improve prenatal screening for congenital heart disease (CHD) in low-risk mothers have not been explored. The aim was to perform a cost-effectiveness analysis of different screening methods. Methods We constructed a decision analytic model of CHD prenatal screening strategies (four-chamber screen (4C), 4C + outflow, nuchal translucency (NT) or fetal echocardiography) populated with probabilities from the literature. The model included whether initial screens were interpreted by a maternal–fetal medicine (MFM) specialist and different referral strategies if they were read by a non-MFM specialist. The primary outcome was the incremental cost per defect detected. Costs were obtained from Medicare National Fee estimates. A probabilistic sensitivity analysis was undertaken on model variables commensurate with their degree of uncertainty. Results In base–case analysis, 4C + outflow referred to an MFM specialist was the least costly strategy per defect detected. The 4C screen and the NT screen were dominated by other strategies (i.e. were more costly and less effective). Fetal echocardiography was the most effective, but most costly. On simulation of 10 000 low-risk pregnancies, 4C+ outflow screen referred to an MFM specialist remained the least costly per defect detected. For an additional $580 per defect detected, referral to cardiology after a 4C + outflow was the most cost-effective for the majority of iterations, increasing CHD detection by 13 percentage points. Conclusions The addition of examination of the outflow tracts to second-trimester ultrasound increases detection of CHD in the most cost-effective manner. Strategies to improve outflow-tract imaging and to refer with the most efficiency may be the best way to improve detection at a population level. PMID:24357432

  7. Prenatal exposure to lead in Spain: cord blood levels and associated factors.

    Science.gov (United States)

    Llop, Sabrina; Aguinagalde, Xabier; Vioque, Jesus; Ibarluzea, Jesús; Guxens, Mònica; Casas, Maribel; Murcia, Mario; Ruiz, María; Amurrio, Ascensión; Rebagliato, Marisa; Marina, Loreto Santa; Fernandez-Somoano, Ana; Tardon, Adonina; Ballester, Ferran

    2011-05-01

    Lead is a known neurotoxic. Fetuses and infants are very vulnerable to lead exposure, since their blood-brain barrier is not completely formed. Hence, there is an importance for monitoring of blood lead levels prenatally and during early infancy. The aim of this study is to evaluate the prenatal exposure to lead and its association with maternal factors in four population based mother-child cohorts in Spain. The present research was carried out within the framework of the INMA project INfancia y Medio Ambiente (Environment and Childhood). A total of 1462 pregnant women were recruited between 2004 and 2008. Lead was analyzed in a sample of cord blood by thermal decomposition, amalgation, and Atomic Absorption Spectrometry. Maternal sociodemographic, lifestyle and dietary factors were obtained by questionnaires during pregnancy. A multivariate logistic regression model was constructed. The dependent variable was a dichotomous lead level variable (detected vs no detected, i.e. ≥ vs < 2μg/dL). A low percentage of cord blood samples with lead levels ≥ 2μg/dL were found (5.9%). Geometric mean and maximum were 1.06μg/dL and 19μg/dL, respectively. Smoking at the beginning of pregnancy, age, social class, weight gain during pregnancy, gravidity, and place of residence were the maternal factors associated with detectable cord blood lead levels. Mother's diet does not appear to be a determining factor of lead exposure. Nevertheless, daily intake of iron and zinc may act as a protective factor against having cord blood lead levels ≥ 2μg/dL. In the different regions of Spain taking part in this study, lead levels to which newborns are exposed are low. Mobilization of lead from bones may be the main contributor to the cord blood levels. Copyright © 2011 Elsevier B.V. All rights reserved.

  8. Women's attitude towards prenatal screening for red blood cell antibodies, other than RhD

    Directory of Open Access Journals (Sweden)

    van der Schoot CE

    2008-11-01

    Full Text Available Abstract Background Since July 1998 all Dutch women (± 200,000/y are screened for red cell antibodies, other than anti-RhesusD (RhD in the first trimester of pregnancy, to facilitate timely treatment of pregnancies at risk for hemolytic disease of the fetus and newborn (HDFN. Evidence for benefits, consequences and costs of screening for non-RhD antibodies is still under discussion. The screening program was evaluated in a nation-wide study. As a part of this evaluation study we investigated, according to the sixth criterium of Wilson and Jüngner, the acceptance by pregnant women of the screening program for non-RhD antibodies. Methods Controlled longitudinal survey, including a prenatal and a postnatal measurement by structured questionnaires. Main outcome measures: information satisfaction, anxiety during the screening process (a.o. STAI state inventory and specific questionnaire modules, overall attitude on the screening program. Univariate analysis was followed by standard multivariate analysis to identify significant predictors of the outcome measures. Participants: 233 pregnant women, distributed over five groups, according to the screening result. Results Satisfaction about the provided information was moderate in all groups. All screen- positive groups desired more supportive information. Anxiety increased in screen- positives during the screening process, but decreased to basic levels postnatally. All groups showed a strongly positive balance between perceived utility and burden of the screening program, independent on test results or background characteristics. Conclusion Women highly accept the non-RhD antibody screening program. However, satisfaction about provided information is moderate. Oral and written information should be provided by obstetric care workers themselves, especially to screen-positive women.

  9. 'He's the dad isn't he?' Gender, race and the politics of prenatal screening.

    Science.gov (United States)

    Reed, Kate

    2011-01-01

    Men's involvement in prenatal screening is becoming increasingly important. However, despite the potentially significant role of fathers in haemoglobinopathy screening, their participation is under researched. Furthermore, the portrayal of Black and minority ethnic (BME) fathers tends to be based on persisting stereotypes of men as either absentee parents with limited roles in screening or as controlling decision-makers. To describe the influence of ethnicity and gender on the process of participation of men in antenatal screening for sickle cell and thalassaemia. A qualitative study, using in-depth interviews and focus groups with 22 pregnant women from a range of socio-economic and ethnic backgrounds, 16 male partners and 15 midwives in a northern city in the UK. Men from BME groups take a pragmatic and equitable role in screening with their partners. White British men on the other hand, while willing to participate in screening, take a more casual view of their own direct participation. Accounts from hospital midwives supported these findings. While acknowledging the importance of material connections between certain BME groups and blood disorders, two key issues are raised. First, BME men's involvement contribute a challenge towards existing assumptions often made about BME fathers. Second, White British men's participation can be useful in determining the genetic status of the foetus and therefore their role should not be neglected. Screening research and practice need to broaden out their focus on issues of gender, ethnicity and screening.

  10. Alteration of Pentylenetetrazol-induced kindling parameters by prenatal chronic Lead exposure in rats

    Directory of Open Access Journals (Sweden)

    Kebriyaei Zadeh A

    2001-08-01

    Full Text Available The effect of prenatal chronic lead exposure on pentylenetetrazol (PTZ-induced kindling parameters (seizure index, seizure latency and seizure stage in rats was studied. Adult female rats with a weight range of 140-180 g were selected and pretreated with lead acetate (0.05% w/v orally, 25 days prior to mating. The control group was given distilled water containing sodium acetate solution (0.05% w/v. After delivery, treatment was ceased, and after lactation, male neonates were separated from the females in both groups. After maturation of male rats, the PTZ-kindling was induced by daily interapritoneally injection of PTZ (30 mg/kg. Kindling parameters in the control and treated groups were determined. The results indicated that animals with prenatal lead exposure have full kindling state with 9-19 (16.87±1.54 injections, whereas this value for control group was 12-23 (18.62±1.48 injections. The seizure latency for the treated group was lower (P<0.05 than the control (2.29±0.44 min versus 3.65±0.45 min. The seizure severity (regarding to seizure index was statistically higher in the treated group (P<0.05. The seizure stages were also different in the treated and control groups (P<0.05. The seizure frequency of first and second stages of kindling in the control group was higher than that of treated one (P<0.05. Also the seizure frequency in the third and fourth kindling stages of case group was higher than controls (P<0.05. It is concluded that prenatal lead exposure alters seizure susceptibility in rat PTZ-Kindling model.

  11. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences.

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper

  12. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences

    NARCIS (Netherlands)

    Garcia Gonzalez, M.E.; Timmermans, D.R.M.; Leeuwen, van E.

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper

  13. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences

    NARCIS (Netherlands)

    Garcia Gonzalez, M.E.; Timmermans, D.R.M.; Leeuwen, van E.

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper explore

  14. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences.

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper explore

  15. First trimester prenatal screening among women pregnant after IVF/ICSI

    DEFF Research Database (Denmark)

    Anne Cathrine, Gjerris; Tabor, Ann; Loft, Anne;

    2012-01-01

    BACKGROUND Prenatal screening and diagnosis of chromosomal abnormalities especially Down's syndrome in IVF pregnancies are complicated by higher maternal age, a high multiple pregnancy rate, a high risk of a vanishing twin and an increased risk of chromosomal abnormalities, particularly in pregna......BACKGROUND Prenatal screening and diagnosis of chromosomal abnormalities especially Down's syndrome in IVF pregnancies are complicated by higher maternal age, a high multiple pregnancy rate, a high risk of a vanishing twin and an increased risk of chromosomal abnormalities, particularly...... in pregnancies after ICSI. The aim of the present systematic review was to evaluate the findings of first trimester screening for chromosomal abnormalities in IVF/ICSI singleton and twin pregnancies. METHODS A systematic MESH-term search in MEDLINE using PubMed and the Cochrane Library was performed until May...... 2011, with no earlier date limit. RESULTS The electronic search retrieved 562 citations, 96 of which were evaluated in detail and 57 were then excluded for not meeting the selection criteria. A total of 61 articles were finally selected for review. Our analysis of the data shows that, for IVF...

  16. [PHQ-2 as First Screening Instrument of Prenatal Depression in Primary Health Care, Spain].

    Science.gov (United States)

    Rodríguez-Muñoz, María de la Fe; Castelao Legazpi, Pilar Carolina; Olivares Crespo, María Eugenia; Soto Balbuena, Cristina; Izquierdo Méndez, Nuria; Ferrer Barrientos, Francisco Javier; Huynh-Nhu, Le

    2017-01-30

    Prenatal depression is a major public health problem that is barely treated. Based on existing literature, depression during this period is associated with negative consequences for the mother and the baby. Therefore it is important to make an adequate screening in this population. The aim of this study was to determine the discriminant validity and cut-off of the Patient Health Questionnaire (PHQ-2) as a screening tool to identify the depression in pregnant women living in Spain. The sample included 1,019 female participants, aged between 19 and 45 years, who participated voluntarily, and received prenatal care during the first trimester. Participants completed a sociodemographic questionnaire, PHQ-2 andPHQ-9. The research has been developed within the Obstetrics and Gynecology department at two public hospitals in two different Spanish Regions. The research was conducted between 2014 and 2016 performing a ROC curve analysis to determine the discriminative capacity and cut-off for PHQ-2. 11,1 % out of 1019 participants were diagnosed with depression. The area under the curve of PHQ-2 was 0,84 p smaller than 0,001. With the cutoff 2 the sensitivity and specificity of 85,4 % and 79,5% respectively. A score Equal or greater than 2 is an appropriate cut-off in PHQ-2 to detect depression during pregnancy. The use of PHQ-2 could precede PHQ-9 as a brief screening tool for antenatal depression in obstetric settings.

  17. Male Partners’ Involvement Towards Prenatal Screening And Diagnostic Testing For Down Syndrome

    Directory of Open Access Journals (Sweden)

    Niken Kusumaningrum

    2015-03-01

    Full Text Available Introduction: Now, male partners’ involvement in prenatal screening and diagnostic testing for Down syndrome is becoming increasingly recognized as well to ensure that parents are well informed of the risks and benefits of screening. The aim of study was to understand the degree of male partners’ involvement during pregnancy in Singapore population. Methods: A cross-sectional survey of male partners’ attending prenatal counseling was performed. The instrument used to measure the level of involvement is a self-assessment questionnaire that identifies the role of male partners with a Likert scale. Descriptive statistics was used to analyze data gained. Result: A total of 107 participants completed the questionnaire. Sixty-seven percent of male partners were found to have a highlevel of involvement while 32.7% was found to have a medium level of involvement. Most of them stated that women can pursue prenatal testing without their permission. Male partners found it more important for them to accompany their spouse to amniocentesis or CVS than to the Down syndrome screening test. When participants were asked about how much information about Down syndrome they sought prior to the appointment, how much discussion they had with their spouse about Down syndrome testing, and about whether they or their spouse should be the first person to receive test results, most stated that they were undecided. Conclusion: These results revealed that male partners were very well involved in the Down syndrome testing during pregnancy and future studies should assess possible underlying factors that influence male partners’ involvement.

  18. Low-level lead exposure in the prenatal and early preschool periods: Language development

    Energy Technology Data Exchange (ETDEWEB)

    Ernhart, C.B.; Greene, T. (Case Western Reserve Univ., Cleveland, OH (USA))

    1990-11-01

    Inconsistent results continue to be reported from studies linking low-level lead exposure and child development. This inconsistency is seen for both prenatal exposure and exposure in the preschool years. The primary outcome measures in most reports are indices of cognitive development, including IQ. Verbal skills may be particularly vulnerable to toxic insult. The fact that 2 y of age is both a time of peak exposure and also a time of rapid language development suggests that this may be a critical period for such an effect. The later prenatal and early infancy period, at which time the nervous system is developing rapidly, may also be critical exposure period. We examined the relationship of maternal and cord blood lead (PbB) at birth and venous PbB at 6 mo, 2 y, and 3 y with language measures at 1, 2, and 3 y of age. The sample consisted of disadvantaged urban children. Multivariate analyses revealed no statistically significant relationship of either prenatal PbB or early preschool PbB with language measures after control of cofactors. Supplementary partial correlations revealed a marginal relationship of cord PbB and mean length of utterance (MLU), which describes a child's ability to form meaningful word combinations. Because this analysis was one of a large number of analyses with both positive and negative regression coefficients, the possibility that this was a chance effect was considered. If there is an effect of low-level lead exposure on language development, that effect is not robust.

  19. Klinefelter Syndrome Diagnosed by Prenatal Screening Tests in High-Risk Groups

    OpenAIRE

    Jo, Dae Gi; Seo, Ju Tae; Lee, Joong Shik; Park, So Yeon; Kim, Jin Woo

    2013-01-01

    Purpose Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. Two-thirds of affected newborns show a karyotype of 47,XXY. Few studies have examined the incidence of Klinefelter syndrome in Korea. The aim of this study was to investigate the incidence of Klinefelter syndrome by use of prenatal screening tests. Materials and Methods From January 2001 to December 2010, 18,049 pregnant women who had undergone a chromosomal study for ...

  20. Prenatal malnutrition and lead intake produce increased brain lipid peroxidation levels in newborn rats.

    Science.gov (United States)

    Maldonado-Cedillo, Brenda Gabriela; Díaz-Ruiz, Araceli; Montes, Sergio; Galván-Arzate, Sonia; Ríos, Camilo; Beltrán-Campos, Vicente; Alcaraz-Zubeldia, Mireya; Díaz-Cintra, Sofia

    2016-09-01

    Prenatal malnutrition (M) and lead intoxication (Pb) have adverse effects on neuronal development; one of the cellular mechanisms involved is a disruption of the pro- and anti-oxidant balance. In the developing brain, the vulnerability of neuronal membrane phospholipids is variable across the different brain areas. This study assesses the susceptibility of different brain regions to damage by quitar tissue oxidative stress and lead quitar concentrations to determine whether the combined effect of prenatal malnutrition (M) and lead (Pb) intoxication is worse than the effect of either of them individually. M was induced with an isocaloric and hypoproteinic (6% casein) diet 4 weeks before pregnancy. Intoxication was produced with lead acetate in drinking water, from the first gestational day. Both the M and Pb models were continued until the day of birth. Four brain regions (hippocampus, cortex, striatum, and cerebellum) were dissected out to analyze the lipid peroxidation (LP) levels in four groups: normally nourished (C); normally nourished but intoxicated with lead (CPb); malnourished (M); and M intoxicated with lead (MPb). Dam body and brain weights were significantly reduced in the fourth gestational week in the MPb group. Their pups had significantly lower body weights than those in the C and CPb groups. The PbM group exhibited significant increases of lead concentration and LP in all areas evaluated. A potentiation effect of Pb and M on LP was found in the cerebellum. This study provides information on how environmental conditions (intoxication and malnutrition) during the intrauterine period could differentially affect the development of neuronal plasticity and, in consequence, alter adult brain functions such as learning and memory.

  1. Awareness among parents of β-thalassemia major patients, regarding prenatal diagnosis and premarital screening.

    Science.gov (United States)

    Ishaq, Fouzia; Abid, Hasnain; Kokab, Farkhanda; Akhtar, Adil; Mahmood, Shahid

    2012-04-01

    To assess the knowledge among parents of thalassemia major patients about prenatal diagnosis, premarital screening for carrier detection and impact of consanguineous marriage on disease transmission. Descriptive study. The Thalassemia Centre, Sir Ganga Ram Hospital, Lahore, from July to September 2009. One hundred and fifteen parents of β-thalassemia major patients were enrolled in this study. A questionnaire was developed and parents were interviewed to assess their knowledge about preventive measures against thalassemia major. Parents of patients with all other types of blood disorder were excluded from the study. There were 74 male (64.3%) and 41 female (35.7) patients with mean age of 9.5 ± 5.1 years. Eighty-eight patients (76.5%) were accompanied by mothers and the rest by their fathers. Seventy-four parents (32.1%) were illiterate; among the literates only 7 were highly educated (3%). Ninety-four couples (81.7%) had consanguineous marriage. Fiftytwo parents (44.6%) knew that thalassemia is an inherited disorder. Thirty-eight (33%) had heard about the test for detecting thalassemia carrier. Premarital screening and prenatal diagnosis was known to 97 (84.3%) and 88 (76.5%) parents respectively. Ninety-nine parents (86.1%) knew about the termination of pregnancy on positive prenatal test but only 69 considered it acceptable religiously (60%). Major source of information to the parents were doctors. Parental knowledge about thalassemia and its preventive measures was inadequate; this requires intervention in the form of public health education programs concentrating on high risk/targeted population.

  2. Prenatal exposure to lead in Spain: Cord blood levels and associated factors

    Energy Technology Data Exchange (ETDEWEB)

    Llop, Sabrina, E-mail: llop_sab@gva.es [Centre of Public Health Research (CSISP), Av Catalunya 21, 46020, Valencia (Spain); Carlos III Health Institute (ISCIII), 20220 Majadahonda, Madrid (Spain); CIBER de Epidemiologia y Salud Publica (CIBERESP), Doctor Aiguader 88, 8003 Barcelona (Spain); Aguinagalde, Xabier [Public Health Laboratory of Alava, Direccion de Salud Publica, Gobierno Vasco, Santiago 11, 01002, Vitoria-Gasteiz, Basque Country (Spain); Vioque, Jesus [CIBER de Epidemiologia y Salud Publica (CIBERESP), Doctor Aiguader 88, 8003 Barcelona (Spain); Universidad Miguel Hernandez, Av de Alicante KM 87, 03550, Sant Joan d' Alacant (Spain); Ibarluzea, Jesus [CIBER de Epidemiologia y Salud Publica (CIBERESP), Doctor Aiguader 88, 8003 Barcelona (Spain); Departamento de Sanidad Gobierno Vasco, Subdireccion de Salud Publica de Gipuzkoa, Avenida de Navarra 4, 20013 San Sebastian (Spain); Biodonostia, Instituto de Investigacion Biomedica, San Sebastian (Spain); Guxens, Monica [CIBER de Epidemiologia y Salud Publica (CIBERESP), Doctor Aiguader 88, 8003 Barcelona (Spain); Centre for Research of Environmental Epidemiology (CREAL), Doctor Aiguader 88, 8003 Barcelona (Spain); Municipal Institute of Medical Research (IMIM-Hospital del Mar), Doctor Aiguader 88, 8003 Barcelona (Spain); Casas, Maribel [Centre for Research of Environmental Epidemiology (CREAL), Doctor Aiguader 88, 8003 Barcelona (Spain); Municipal Institute of Medical Research (IMIM-Hospital del Mar), Doctor Aiguader 88, 8003 Barcelona (Spain); Murcia, Mario [Centre of Public Health Research (CSISP), Av Catalunya 21, 46020, Valencia (Spain); CIBER de Epidemiologia y Salud Publica (CIBERESP), Doctor Aiguader 88, 8003 Barcelona (Spain); Ruiz, Maria [Centre for Research of Environmental Epidemiology (CREAL), Doctor Aiguader 88, 8003 Barcelona (Spain); Municipal Institute of Medical Research (IMIM-Hospital del Mar), Doctor Aiguader 88, 8003 Barcelona (Spain); and others

    2011-05-01

    Introduction and Objective: Lead is a known neurotoxic. Fetuses and infants are very vulnerable to lead exposure, since their blood-brain barrier is not completely formed. Hence, there is an importance for monitoring of blood lead levels prenatally and during early infancy. The aim of this study is to evaluate the prenatal exposure to lead and its association with maternal factors in four population based mother-child cohorts in Spain. The present research was carried out within the framework of the INMA project INfancia y Medio Ambiente (Environment and Childhood). Methods: A total of 1462 pregnant women were recruited between 2004 and 2008. Lead was analyzed in a sample of cord blood by thermal decomposition, amalgation, and Atomic Absorption Spectrometry. Maternal sociodemographic, lifestyle and dietary factors were obtained by questionnaires during pregnancy. A multivariate logistic regression model was constructed. The dependent variable was a dichotomous lead level variable (detected vs no detected, i.e. {>=} vs < 2 {mu}g/dL). Results: A low percentage of cord blood samples with lead levels {>=} 2 {mu}g/dL were found (5.9%). Geometric mean and maximum were 1.06 {mu}g/dL and 19 {mu}g/dL, respectively. Smoking at the beginning of pregnancy, age, social class, weight gain during pregnancy, gravidity, and place of residence were the maternal factors associated with detectable cord blood lead levels. Mother's diet does not appear to be a determining factor of lead exposure. Nevertheless, daily intake of iron and zinc may act as a protective factor against having cord blood lead levels {>=} 2 {mu}g/dL. Conclusion: In the different regions of Spain taking part in this study, lead levels to which newborns are exposed are low. Mobilization of lead from bones may be the main contributor to the cord blood levels. - Research Highlights: {yields} Pb is a ubiquitous environmental pollutant with harmful effects on neurodevelopment. {yields} Cord blood Pb levels in

  3. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme

    Directory of Open Access Journals (Sweden)

    Ravindra Kumar

    2015-01-01

    Full Text Available Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness programme. Clinically diagnosed 516 cases of beta thalassemia were screened at molecular level. A detailed clinical Proforma was recorded with the information of origin of the family, ethnicity, and consanguinity. The present study reports that subjects originating from Uttar Pradesh, Uttarakhand, Bihar, and Jharkhand have c.92+5G>C and c.124_127delTTCT mutation as the commonest mutation compared to the subjects hailing from Madhya Pradesh and Chhattisgarh and Nepal where sickle mutation was found more common. In 40 consanguineous unions more common and specific beta mutations with higher rate of homozygosity have been reported. This consanguinity-based data helps not only in deciding target oriented prenatal diagnostic strategies but also in objective based awareness programmes in prevention of thalassemia major birth.

  4. Cost-effectiveness of rapid syphilis screening in prenatal HIV testing programs in Haiti.

    Directory of Open Access Journals (Sweden)

    Bruce R Schackman

    2007-05-01

    Full Text Available BACKGROUND: New rapid syphilis tests permit simple and immediate diagnosis and treatment at a single clinic visit. We compared the cost-effectiveness, projected health outcomes, and annual cost of screening pregnant women using a rapid syphilis test as part of scaled-up prenatal testing to prevent mother-to-child HIV transmission in Haiti. METHODS AND FINDINGS: A decision analytic model simulated health outcomes and costs separately for pregnant women in rural and urban areas. We compared syphilis syndromic surveillance (rural standard of care, rapid plasma reagin test with results and treatment at 1-wk follow-up (urban standard of care, and a new rapid test with immediate results and treatment. Test performance data were from a World Health Organization-Special Programme for Research and Training in Tropical Diseases field trial conducted at the GHESKIO Center Groupe Haitien d'Etude du Sarcome de Kaposi et des Infections Opportunistes in Port-au-Prince. Health outcomes were projected using historical data on prenatal syphilis treatment efficacy and included disability-adjusted life years (DALYs of newborns, congenital syphilis cases, neonatal deaths, and stillbirths. Cost-effectiveness ratios are in US dollars/DALY from a societal perspective; annual costs are in US dollars from a payer perspective. Rapid testing with immediate treatment has a cost-effectiveness ratio of $6.83/DALY in rural settings and $9.95/DALY in urban settings. Results are sensitive to regional syphilis prevalence, rapid test sensitivity, and the return rate for follow-up visits. Integrating rapid syphilis testing into a scaled-up national HIV testing and prenatal care program would prevent 1,125 congenital syphilis cases and 1,223 stillbirths or neonatal deaths annually at a cost of $525,000. CONCLUSIONS: In Haiti, integrating a new rapid syphilis test into prenatal care and HIV testing would prevent congenital syphilis cases and stillbirths, and is cost-effective. A

  5. Spanish- and English-Speaking Pregnant Women's Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections.

    Science.gov (United States)

    Floyd, Erin; Allyse, Megan A; Michie, Marsha

    2016-10-01

    The rapid clinical implementation of cell-free DNA (cfDNA) screening, a non-invasive method of prenatal genetic screening, has outpaced research on its social and ethical implications. This study is the first to compare the ethical and practical views of Spanish- and English-speaking pregnant women in the United States about cfDNA screening. Semi-structured interviews were conducted with diverse Spanish- and English-speaking women who had received prenatal care at a large academic medical center. Of the 24 interviewees, ten were Latinas who were interviewed in Spanish; English-language interviews were conducted with seven non-Hispanic Asian and seven non-Hispanic White women. Participants held positive opinions concerning the accuracy of cfDNA screening and often noted that it would enhance preparedness. Participants also expressed concerns about the possibility of inaccurate results and the potentially negative effects of cfDNA screening on the experience of pregnancy. Differences emerged between Spanish and English speakers in their portrayals of their relationships with prenatal health care providers, the extent to which they questioned providers' advice, their ethical concerns, and their informational needs. We emphasize the importance of customizing prenatal test counseling to the needs of the individual patient, providing educationally appropriate counseling and literature, and mitigating potential language barriers.

  6. Research and analysis of Foshan prenatal screening and prenatal diagnosis%佛山地区产前筛查与产前诊断分析研究

    Institute of Scientific and Technical Information of China (English)

    邓璐莎; 郭晓玲; 钟进; 陈志华; 邓秀珍

    2012-01-01

    Objective: Research and analysis of Foshan prenatal screening and prenatal diagnosis. Methods; Since Jun. 2006 -Dec. 2008 to our hospital for prenatal care of pregnant women a total of 41 656 cases, of which 29, 101 cases of voluntary line sero-logical screening, gestational age 15 -25 weeks, age 21 -42 Years, mean age was 25. 73 years. Routine ultrasound screening has 41 333,gestational age 11 -36 weeks. Down's screening and B - ultrasound screening results for the high - risk pregnant women for genetic counseling, prenatal diagnosis confirmed the recommendations. Method of prenatal diagnosis by amniocentesis or transabdomi-nal amniotic fluid cells cultured umbilical vein cord blood cell culture, chromosome with G band staining. Results: The screening of 29 101 cases in the serum of pregnant women in high - risk screening 3227 cases, the positive rate was 11. 1%. High risk of trisomy 21 in which 1287 cases, accounting for 4.4% ; high risk of trisomy 18 423 cases, accounting for 1.45%. Serum screening in the 3227 cases of high - risk pregnant women receive prenatal diagnosis were 1065 cases, accounting for 33% (1065/3227). Abnormal karyotypes of 100 patients, accounting for 12.49% , accounting for 4.12% of high - risk pregnant women (100/3227 ). There are 19 cases of trisomy 21, 2 cases of trisomy 18 detection rate was 1.97% (21/1065) , a total of 21 cases of chromosome abnormalities 21% (21/100). With 41 333 routine ultrasound screening, ultrasound screening for high risk of 851 cases, the positive rate was 2.06%. 206 cases of prenatal diagnosis, chromosomal abnormalities in 45 cases, accounting for 21. 84% (45/206), Check out of 5 cases of trisomy 21, trisomy 18 in 8 cases, 1 case of trisomy 13, accounting for 31.11% of chromosomal abnormalities (14/45). Conclusion: The maternal age, serology testing and prenatal ultrasound screening for Down syndrome screening methods significantly improve the positive rate of screening, through prenatal screening, the screening

  7. Evaluation of a novel electronic genetic screening and clinical decision support tool in prenatal clinical settings.

    Science.gov (United States)

    Edelman, Emily A; Lin, Bruce K; Doksum, Teresa; Drohan, Brian; Edelson, Vaughn; Dolan, Siobhan M; Hughes, Kevin; O'Leary, James; Vasquez, Lisa; Copeland, Sara; Galvin, Shelley L; DeGroat, Nicole; Pardanani, Setul; Gregory Feero, W; Adams, Claire; Jones, Renee; Scott, Joan

    2014-07-01

    "The Pregnancy and Health Profile" (PHP) is a free prenatal genetic screening and clinical decision support (CDS) software tool for prenatal providers. PHP collects family health history (FHH) during intake and provides point-of-care risk assessment for providers and education for patients. This pilot study evaluated patient and provider responses to PHP and effects of using PHP in practice. PHP was implemented in four clinics. Surveys assessed provider confidence and knowledge and patient and provider satisfaction with PHP. Data on the implementation process were obtained through semi-structured interviews with administrators. Quantitative survey data were analyzed using Chi square test, Fisher's exact test, paired t tests, and multivariate logistic regression. Open-ended survey questions and interviews were analyzed using qualitative thematic analysis. Of the 83% (513/618) of patients that provided feedback, 97% felt PHP was easy to use and 98% easy to understand. Thirty percent (21/71) of participating physicians completed both pre- and post-implementation feedback surveys [13 obstetricians (OBs) and 8 family medicine physicians (FPs)]. Confidence in managing genetic risks significantly improved for OBs on 2/6 measures (p values ≤0.001) but not for FPs. Physician knowledge did not significantly change. Providers reported value in added patient engagement and reported mixed feedback about the CDS report. We identified key steps, resources, and staff support required to implement PHP in a clinical setting. To our knowledge, this study is the first to report on the integration of patient-completed, electronically captured and CDS-enabled FHH software into primary prenatal practice. PHP is acceptable to patients and providers. Key to successful implementation in the future will be customization options and interoperability with electronic health records.

  8. Pregnant Women's Secondhand Smoke Exposure and Receipt of Screening and Brief Advice by Prenatal Care Providers in Argentina and Uruguay

    Science.gov (United States)

    Tong, Van T.; Morello, Paola; Alemán, Alicia; Johnson, Carolyn; Dietz, Patricia M.; Farr, Sherry L.; Mazzoni, Agustina; Berrueta, Mabel; Colomar, Mercedes; Ciganda, Alvaro; Becú, Ana; Gonzalez, Maria G. Bittar; Llambi, Laura; Gibbons, Luz; Smith, Ruben A.; Buekens, Pierre; Belizán, José M.; Althabe, Fernando

    2015-01-01

    Abstract Secondhand smoke (SHS) exposure has negative effects on maternal and infant health. SHS exposure among pregnant women in Argentina and Uruguay has not been previously described, nor has the proportion of those who have received screening and advice to avoid SHS during prenatal care. Women who attended one of 21 clusters of publicly-funded prenatal care clinics were interviewed regarding SHS exposure during pregnancy at their delivery hospitalization during 2011–2012. Analyses were conducted using SURVEYFREQ procedure in SAS version 9.3 to account for prenatal clinic clusters. Of 3,427 pregnant women, 43.4 % had a partner who smoked, 52.3 % lived with household members who smoked cigarettes, and 34.4 % had no or partial smoke-free home rule. Of 528 pregnant women who worked outside of the home, 21.6 % reported past month SHS exposure at work and 38.1 % reported no or partial smoke-free work policy. Overall, 35.9 % of women were exposed to SHS at home or work. In at least one prenatal care visit, 67.2 % of women were screened for SHS exposure, and 56.6 % received advice to avoid SHS. Also, 52.6 % of women always avoided SHS for their unborn baby's health. In summary, a third of pregnant women attending publicly-funded prenatal clinics were exposed to SHS, and only half of pregnant women always avoided SHS for their unborn baby's health. Provider screening and advice rates can be improved in these prenatal care settings, as all pregnant women should be screened and advised of the harms of SHS and how to avoid it. PMID:25427876

  9. Inadequate prenatal care and elevated blood lead levels among children born in Providence, Rhode Island: a population-based study.

    Science.gov (United States)

    Greene, Anna; Morello-Frosch, Rachel; Shenassa, Edmond D

    2006-01-01

    This study was conducted to determine whether children born to mothers receiving inadequate prenatal care are at an increased risk for having an elevated blood lead level during early childhood. The authors conducted a population-based study of children born in Providence, Rhode Island, from 1997 to 2001 whose mothers had received adequate, intermediate, or inadequate prenatal care. The children's blood lead levels were compared between groups using bivariate and logistic regression. To understand the regulatory implications and public health impact of changing the definition of an elevated blood lead level, "elevated" was defined as 5 microg/dL, 10 microg/dL, and 15 microg/dL. Children born to mothers who received inadequate prenatal care were at an elevated risk for having an elevated blood lead level later in life. This relationship remained statistically significant for each definition of elevated blood lead level and after controlling for other socio-economic status measures and birthweight (at 5 microg/dL, odds ratio [OR] = 1.36, 95% confidence interval [CI] 1.09, 1.68, p = 0.006; at 10 microg/dL, OR = 1.68, 95% CI 1.26, 2.24, p prenatal care provision could help identify women possibly experiencing ongoing lead exposure and help reduce or prevent exposures to their offspring.

  10. New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

    Directory of Open Access Journals (Sweden)

    Tanya Milachich

    2014-01-01

    Full Text Available The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF embryos. Preimplantation genetic diagnosis (PGD or screening (PGS involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future.

  11. Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years.

    Science.gov (United States)

    Lai, S; Lau, W L; Leung, W C; Lai, F K; Chin, R

    2010-11-01

    To evaluate ultrasound scan and other prenatal screening tests for trisomy 18 in a regional obstetric unit and to review the management approach for women with positive trisomy 18 screening results. Prenatal diagnosis databases were accessed to identify fetuses that had confirmed trisomy 18 karyotypes or were at high risk for trisomy 18 on second-trimester biochemical screening or first-trimester combined screening tests over a period of 10 years from 1 September 1997 to 30 September 2007. Sixty-nine women were confirmed to have trisomy 18 fetuses by karyotyping either prenatally (n = 61) or postnatally/post-miscarriage (n = 8) during the study period. The detection rate of ultrasound scan ≤ 14 weeks and 18 to 21 weeks to detect trisomy 18 was 92.7 and 100%, respectively. A total of 80 and 87% of fetuses had two or more ultrasound abnormalities detected in the ≤ 14 weeks and 18 to 21 weeks anomaly scans, respectively. Forty-eight women screened positive for trisomy 18 by second-trimester biochemical screening with human chorionic gonadotrophin (hCG) and alpha fetoprotein (AFP). Only one was true positive (positive predictive value = 1/48 or 2%). Eleven women screened positive for trisomy 18 by first-trimester combined screening with nuchal translucency scan and maternal serum for pregnancy-associated plasma protein A (PAPP-A) and hCG between 11 and 13 + 6 weeks. Three were true positive (positive predictive value = 3/11 or 27%). All four cases with positive screening had ultrasound abnormalities. Ultrasound scan for fetal anomalies is the most effective screening test for trisomy 18. A policy of conservative management for women with positive second-trimester biochemical screening or first-trimester combined screening for trisomy 18 is reasonable in the absence of ultrasound fetal abnormalities. Unnecessary invasive tests can be avoided.

  12. Clients' psychosocial communication and midwives' verbal and nonverbal communication during prenatal counseling for anomaly screening.

    Science.gov (United States)

    Martin, Linda; Gitsels-van der Wal, Janneke T; Pereboom, Monique T R; Spelten, Evelien R; Hutton, Eileen K; van Dulmen, Sandra

    2016-01-01

    This study focuses on facilitation of clients' psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives' psychosocial and affective communication, client-directed gaze and counseling duration. During 184 videotaped prenatal counseling consultations with 20 Dutch midwives, verbal psychosocial and affective behavior was measured by the Roter Interaction Analysis System (RIAS). We rated the duration of client-directed gaze. We performed multilevel analyses to assess the relation between clients' psychosocial communication and midwives' psychosocial and affective communication, client-directed gaze and counseling duration. Clients' psychosocial communication was higher if midwives' asked more psychosocial questions and showed more affective behavior (β=0.90; CI: 0.45-1.35; pcommunication was not related to midwives" client-directed gaze. Additionally, psychosocial communication by clients was directly, positively related to the counseling duration (β=0.59; CI: 0.20-099; p=0.004). In contrast with our expectations, midwives' client-directed gaze was not related with psychosocial communication of clients. In addition to asking psychosocial questions, our study shows that midwives' affective behavior and counseling duration is likely to encourage client's psychosocial communication, known to be especially important for facilitating decision-making. Copyright © 2015 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

  13. Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes

    NARCIS (Netherlands)

    Mersy, E.; Die-Smulders, C.E. de; Coumans, A.B.; Smits, L.J.; Wert, G.M.W.R. de; Frints, S.G.; Veltman, J.A.

    2015-01-01

    BACKGROUND: Implementation of non-invasive prenatal testing (NIPT) in Down syndrome screening programmes requires health policy decisions about its combination with other tests and its timing in pregnancy. AIM: Our aim was to aid health policy decision makers by conducting a quantitative analysis of

  14. Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program

    NARCIS (Netherlands)

    Fleurke-Rozema, Hanneke; van de Kamp, Karline; Bakker, Marian; Pajkrt, Eva; Bilardo, Caterina; Snijders, Rosalinde

    ObjectiveTo examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. MethodsA prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were

  15. Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.

    OpenAIRE

    Dick, P. T.

    1996-01-01

    OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and ri...

  16. [Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province].

    Science.gov (United States)

    Zhou, Yu-qiu; Shang, Xuan; Yin, Bao-min; Xiong, Fu; Xiao, Qi-zhi; Zhou, Wan-jun; Zhang, Yong-liang; Xu, Xiang-min

    2012-02-01

    To report the results of preventive control program of severe thalassemias in Zhuhai City of Guangdong Province from 1998 to 2010. As the guide centre of marriage and childbearing and the greatest maternity hospital in Zhuhai City of Guangdong Province, Zhuhai Municipal Maternity and Child Healthcare Hospital constructed the genetic screening network for thalassemias testing and referred for follow-up and for genetic counseling. The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program. A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (TIF). Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays. The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily. From January 1998 to December 2010, 85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded, the covering rates of premarital screening and prenatal screening in the city were 92.698% (from 1998 to 2003) and 27.667% (from 2004 to 2010), respectively. Totally 10 726 cases were found to be the carriers of thalassemias, with 7393 for α-thalassemia (5.237%, 7 393/141 166) and 3333 for β-thalassemia (2.361%, 3 333/141 166). A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia. Among them, 251 (97.7%, 251/257) couples were performed prenatal diagnosis. During the preventive control program, a total of 72 fetuses with severe thalassemias including hemoglobin H disease

  17. Towards prenatal biomonitoring in Nanjing, China: lead and cadmium levels in the duration of pregnancy

    Institute of Scientific and Technical Information of China (English)

    LIU Kang-sheng; MAO Xiao-dong; HAO Jia-hu; SHI Juan; DAI Chun-fang; CHEN Wen-jun

    2013-01-01

    Background Prenatal lead and cadmium exposure will not only influence the mother's organ systems,but also will provide an environment that may influence the fetus and neonate in a harmful way.In the present study,we detected the blood lead levels (BLLS) and cadmium levels for the duration of pregnancy and 6-12 weeks after delivery and to analyze the influencing factors of BLLs in healthy pregnant women.Methods A cohort study survey was carried out.We recruited 174 healthy pregnant women without pregnancy or obstetric complications or abnormal pregnancy outcomes as the gravida group,and 120 healthy non-pregnant women as the control group.Results The lead concentrations in the three pregnancy trimesters and in the postpartum period were:(5.98±2.43),(5.54±2.01),(5.59±1.97),and (6.76±1.74) μg/dl; and (6.75±2.13) μg/dl in the control group.The cadmium concentrations in the three pregnancy trimesters and postpartum period were 1.61±0.45,1.63±0.46,1.64±0.49,and 1.67±0.57.We found that the BLLs in the gravida group were lower than in the control group during all three trimesters.Occupations,supplement nutritional elements (dietary supplements and nutritional (food) elements),and the time of house painting could affect BLLs in pregnant women.Lead-related occupations,using cosmetics,and living in a house painted more recently than one year previously are risk factors of high BLLs among pregnant women,while calcium,iron,zinc,and milk supplements are protective factors.Conclusions These findings may help people,especially pregnant women,to reduce lead exposure via supplements of calcium,iron,zinc,and milk or avoiding contacting risk factors.

  18. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome

    DEFF Research Database (Denmark)

    Boyd, P A; Devigan, C; Khoshnood, B

    2008-01-01

    screening policies in 18 countries and 1.13 million births in 12 countries in 2002-04. METHODS: (i) Questionnaire on national screening policies and termination of pregnancy for fetal anomaly (TOPFA) laws in 2004. (ii) Analysis of data on prenatal detection and termination for Down's syndrome and neural...... tube defects (NTDs) using the EUROCAT database. MAIN OUTCOME MEASURES: Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down's syndrome and NTD. RESULTS: Ten of the 18 countries had a national country-wide policy for Down...

  19. Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.

    Science.gov (United States)

    Kornreich, Ruth; Ekstein, Josef; Edelmann, Lisa; Desnick, Robert J

    2004-01-01

    Since the early 1990s, Dor Yeshorim (DY) and the Mount Sinai School of Medicine (MSSM) have conducted premarital and prenatal carrier screening for cystic fibrosis (CF) in the Ashkenazi Jewish (AJ) population as part of their genetic testing programs, respectively. Together, over 170,000 screenees have been tested. In this study, we report the CF mutation frequencies in over 110,000 screenees who reportedly were of 100% AJ descent from the DY program and MSSM. In addition, the CF mutation frequencies in a group of > 7,000 screenees for AJ diseases who were of T (0.0020), and N1303K (0.0016), among screenees who were 100% AJ was 1 in 26; when D1152H and the rare 1717-1G>A were included, the overall carrier frequency increased to approximately 1 in 23. In four families with D1152H, five compound heterozygotes for D1152H and W1282X (n = 2), DeltaF508 (1) or 3849+10kb C>T (1) were identified. In contrast, the carrier frequency for screenees reporting screening the AJ population should be considered because compound heterozygosity is associated with a variable disease phenotype. Further studies to delineate the phenotype of CF patients with this mutation are needed.

  20. Comparison of Different Blood Collection, Sample Matrix, and Immunoassay Methods in a Prenatal Screening Setting

    Directory of Open Access Journals (Sweden)

    Jeroen L. A. Pennings

    2014-01-01

    Full Text Available We compared how measurements of pregnancy-associated plasma protein A (PAPP-A and the free beta subunit of human chorionic gonadotropin (fβ-hCG in maternal blood are influenced by different methods for blood collection, sample matrix, and immunoassay platform. Serum and dried blood spots (DBS were obtained by venipuncture and by finger prick of 19 pregnant women. PAPP-A and fβ-hCG from serum and from DBS were measured by conventional indirect immunoassay on an AutoDELFIA platform and by antibody microarray. We compared methods based on the recoveries for both markers as well as marker levels correlations across samples. All method comparisons showed high correlations for both marker concentrations. Recovery levels of PAPP-A from DBS were 30% lower, while those of fβ-hCG from DBS were 50% higher compared to conventional venipuncture serum. The recoveries were not affected by blood collection or immunoassay method. The high correlation coefficients for both markers indicate that DBS from finger prick can be used reliably in a prenatal screening setting, as a less costly and minimally invasive alternative for venipuncture serum, with great logistical advantages. Additionally, the use of antibody arrays will allow for extending the number of first trimester screening markers on maternal and fetal health.

  1. Prenatal ultrasound screening: false positive soft markers may alter maternal representations and mother-infant interaction.

    Directory of Open Access Journals (Sweden)

    Sylvie Viaux-Savelon

    Full Text Available BACKGROUND: 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. METHODOLOGY AND PRINCIPAL FINDINGS: 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. CONCLUSION: 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.

  2. Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.

    Science.gov (United States)

    Lindy, Amanda S; Bupp, Caleb P; McGee, Stephen J; Steed, Erin; Stevenson, Roger E; Basehore, Monica J; Friez, Michael J

    2014-09-01

    Cenani-Lenz syndrome (CLS) is an autosomal recessive skeletal dysplasia that results in malformations of the distal limb, renal anomalies, and characteristic facies. In 2010, this condition was found to be caused by mutations in LRP4, a member of the low-density lipoprotein family of receptors. LRP4 has been shown to antagonize LRP5/LRP6 activation of WNT and β-catenin signaling. Loss of LRP4 function leads to excessive Wnt and β-catenin signaling in the limb bud, which causes abnormal limb development. The large majority of patients with CLS reported in the literature have splicing and missense mutations, which result in syndactyly, oligodactyly, and minor renal malformations. More recently, a patient with CLS has been identified with a homozygous nonsense mutation and a more severe presentation of findings typically associated with this condition. Here we present two sibling fetuses with a prenatal lethal presentation of mesomelic limb reductions, oligosyndactyly, genitourinary malformation and compound heterozygosity for two novel truncating mutations in LRP4. These findings lend further support to the CLS genotype-phenotype correlation presented in recent publications.

  3. Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

    Directory of Open Access Journals (Sweden)

    Forum T. Shah

    2014-07-01

    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.

  4. Prenatal malnutrition leads to deficits in attentional set shifting and decreases metabolic activity in prefrontal subregions that control executive function.

    Science.gov (United States)

    McGaughy, Jill A; Amaral, Ana C; Rushmore, R Jarrett; Mokler, David J; Morgane, Peter J; Rosene, Douglas L; Galler, Janina R

    2014-01-01

    Globally, over 25% of all children under the age of 5 years experience malnutrition leading to cognitive and emotional impairments that can persist into adulthood and beyond. We use a rodent model to determine the impact of prenatal protein malnutrition on executive functions in an attentional set-shifting task and metabolic activity in prefrontal cortex (PFC) subregions critical to these behaviors. Long-Evans dams were provided with a low (6% casein) or adequate (25% casein) protein diet 5 weeks before mating and during pregnancy. At birth, the litters were culled to 8 pups and fostered to control dams on the 25% casein diet. At postnatal day 90, prenatally malnourished rats were less able to shift attentional set and reverse reward contingencies than controls, demonstrating cognitive rigidity. Naive same-sexed littermates were assessed for regional brain activity using the metabolic marker (14)C-2-deoxyglucose (2DG). The prenatally malnourished rats had lower metabolic activity than controls in prelimbic, infralimbic, anterior cingulate, and orbitofrontal cortices, but had comparable activity in the nearby piriform cortex and superior colliculus. This study demonstrates that prenatal protein malnutrition in a well-described animal model produces cognitive deficits in tests of attentional set shifting and reversal learning, similar to findings of cognitive inflexibility reported in humans exposed to early childhood malnutrition. © 2014 S. Karger AG, Basel.

  5. Psychological aspects of individualized choice and reproductive autonomy in prenatal screening.

    Science.gov (United States)

    Hewison, Jenny

    2015-01-01

    Probably the main purpose of reproductive technologies is to enable people who choose to do so to avoid the birth of a baby with a disabling condition. However the conditions women want information about and the 'price' they are willing to pay for obtaining that information vary enormously. Individual women have to arrive at their own prenatal testing choices by 'trading off' means and ends in order to resolve the dilemmas facing them. We know very little about how individuals make these trade-offs, so it is difficult to predict how new technologies will affect their choices and preferences. Uptake decisions can be expected to change, especially in the group of women who now are put off by some aspect of the current screening approach, where the avoidance of miscarriage risk may have provided a kind of 'psychological shelter', protecting a lot of people from having to make other decisions. Technologies such as Pre-implantation Genetic Diagnosis may remove a second 'psychological shelter' because they offer the means of avoiding the birth of an affected child without terminating a pregnancy. Even if new technologies will make some decisions easier in terms of their cognitive demands, they will also create new dilemmas and decision making will not necessarily become less stressful in emotional terms. Key challenges concern information and decision-making.

  6. Carrier Screening and Prenatal Gene Diagnosis of β-thalassemia by PCR-RDB Technique

    Institute of Scientific and Technical Information of China (English)

    张宏秀; 单可人; 惠春林; 何燕; 袁筑华; 窦友莲; 曾金琳; 谢渊; 修瑾

    2003-01-01

    In order to identify the distribution of gene types of β-thalassemia and reduce the birthrates of β-thalassemia major in Guiyang area, 1054 pregnant women and their spouses from Affiliated Hospital, Guiyang Medical College were screened. The positive samples were analyzed with polymerase chain reaction and reverse dot blot method (PCR-RDB). When both partners were heterozygous identified as carriers for β- thalassemia, the risk of having a fetus who was homozygous or compound heterozygous was 2.66 %; the ratio of male to female was 1/1.15. Seven types of mutation were identified. CD17 and CD41-42 were dominant among them. Among the 4 cases subject to prenatal gene diagnosis, one fetus was completely normal and 3 fetuses were diagnosed as having β-thalassemia major (1 homozygous and 2 compound heterozygous). The fetuses diagnosed as β-thalassemia major were selectively terminated within two weeks. It was concluded that the birthrate of β-thalassemia major in Guiyang area was reduced and the target of improving birth outcome and child development has been achieved.

  7. Exploring general practitioners' experience of informing women about prenatal screening tests for foetal abnormalities: A qualitative focus group study

    Directory of Open Access Journals (Sweden)

    Meiser Bettina

    2008-05-01

    Full Text Available Abstract Background Recent developments have made screening tests for foetal abnormalities available earlier in pregnancy and women have a range of testing options accessible to them. It is now recommended that all women, regardless of their age, are provided with information on prenatal screening tests. General Practitioners (GPs are often the first health professionals a woman consults in pregnancy. As such, GPs are well positioned to inform women of the increasing range of prenatal screening tests available. The aim of this study was to explore GPs experience of informing women of prenatal genetic screening tests for foetal abnormality. Methods A qualitative study consisting of four focus groups was conducted in metropolitan and rural Victoria, Australia. A discussion guide was used and the audio-taped transcripts were independently coded by two researchers using thematic analysis. Multiple coders and analysts and informant feedback were employed to reduce the potential for researcher bias and increase the validity of the findings. Results Six themes were identified and classified as 'intrinsic' if they occurred within the context of the consultation or 'extrinsic' if they consisted of elements that impacted on the GP beyond the scope of the consultation. The three intrinsic themes were the way GPs explained the limitations of screening, the extent to which GPs provided information selectively and the time pressures at play. The three extrinsic factors were GPs' attitudes and values towards screening, the conflict they experienced in offering screening information and the sense of powerlessness within the screening test process and the health care system generally. Extrinsic themes reveal GPs' attitudes and values to screening and to disability, as well as raising questions about the fundamental premise of testing. Conclusion The increasing availability and utilisation of screening tests, in particular first trimester tests, has expanded GPs

  8. Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy.

    Science.gov (United States)

    Stajner, Tijana; Bobic, Branko; Klun, Ivana; Nikolic, Aleksandra; Srbljanovic, Jelena; Uzelac, Aleksandra; Rajnpreht, Irena; Djurkovic-Djakovic, Olgica

    2016-03-01

    To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy.I n the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT. Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable. In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment.

  9. Clinical experience from Thailand noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies

    DEFF Research Database (Denmark)

    Manotaya, S.; Uerpairojkit, B.; Chen, F.

    2016-01-01

    PurposeThe purpose of this article is to report the clinical experience and performance of massively parallel sequencing-based noninvasive prenatal testing (NIPT) as a screening method in detecting trisomy 21, 18, and 13 (T21/T18/T13) in a mixed-risk population in Thailand. MethodsIn a 30-month...... period, 121 medical centers in Thailand offered NIPT as clinical screening tests for fetal T21, T18, and T13 in the mixed-risk population. All NIPT-positive cases were recommended to undergo invasive prenatal diagnosis. ResultsA total of 4736 participants received the NIPT test, including 2840 high...... 36T21, 19T18, and 8T13; 82.5% (52/63) took prenatal diagnosis, and 11.5% (6/52) false-positive cases were observed. The positive predictive values for the detection of T21, T18, and T13 were 94.4%, 79.0%, and 87.5%, respectively. ConclusionWith stringent protocol, our prospective large...

  10. Prenatal ethanol exposure leads to greater ethanol-induced appetitive reinforcement.

    Science.gov (United States)

    Pautassi, Ricardo M; Nizhnikov, Michael E; Spear, Norman E; Molina, Juan C

    2012-09-01

    Prenatal ethanol significantly heightens later alcohol consumption, but the mechanisms that underlie this phenomenon are poorly understood. Little is known about the basis of 'this effect of prenatal ethanol on the sensitivity to ethanol's reinforcing effects. One possibility is that prenatal ethanol exposure makes subjects more sensitive to the appetitive effects of ethanol or less sensitive to ethanol's aversive consequences. The present study assessed ethanol-induced second-order conditioned place preference (CPP) and aversion and ethanol-induced conditioned taste aversion (CTA) in infant rats prenatally exposed to ethanol (2.0 g/kg) or vehicle (water) or left untreated. The involvement of the κ opioid receptor system in ethanol-induced CTA was also explored. When place conditioning occurred during the ascending limb of the blood-ethanol curve (Experiment 1), the pups exposed to ethanol in utero exhibited greater CPP than untreated controls, with a shift to the right of the dose-response curve. Conditioning during a later phase of intoxication (30-45 min post-administration; Experiment 2) resulted in place aversion in control pups exposed to vehicle during late gestation but not in pups that were exposed to ethanol in utero. Ethanol induced a reliable and similar CTA (Experiment 3) in the pups treated with vehicle or ethanol during gestation, and CTA was insensitive to κ antagonism. These results suggest that brief exposure to a moderate ethanol dose during late gestation promotes ethanol-mediated reinforcement and alters the expression of conditioned aversion by ethanol. This shift in the motivational reactivity to ethanol may be an underlying basis of the effect of prenatal ethanol on later ethanol acceptance.

  11. The Status of Quality Control Investigation and Analysis for Maternal Serum Marker of Prenatal Screening Laboratories in China.

    Science.gov (United States)

    He, Falin; Wang, Wei; Zhong, Kun; Yuan, Shuai; Wang, Zhiguo

    2017-01-01

    This national survey was initiated to investigate the current status of quality control practice of prenatal screening by statistical analysis of the previous half year data of prenatal screening in 2015. Data were sent to all Chinese prenatal screening centers via the National Quality Assessment Scheme. This covered the software used, the risk cutoffs, monthly sample throughput, monthly median MoM of AFP, HCG, β-HCG, free β-HCG and uE3, monthly screening positive rates for trisomy 21, trisomy 18, and Open Neural Tube Defect (ONTD). Screening protocols were versatile, 73.5% (133/181) used the two-marker model, 24.3% (44/181) used the three-marker model, and 2.2% used the four-marker model. Regarding the software used, 350 laboratories never updated the screening parameters, 89 laboratories had updated their median or parameter by manufacturers, and 24 laboratories had updated the parameters by themselves. Cutoffs differ between laboratories. 59.9% (275/459) use 1/270 as their cutoffs for trisomy 21. 66.2% (296/447) use 1/350 as their cutoff for trisomy 18. 96.5% (361/374) use cutoffs between 2.0 - 2.5 MoM for ONTD. Regarding the results of the monthly median MoM, the percentage of laboratories for which all six monthly median MoMs were within the target of 0.90 - 1.10 was 46.7% (155/332) for AFP, 20.0% (4/20) for hCG, 29.2% (28/96) for β-HCG, 15.7% (31/198) for free β-HCG, and 4.8% (11/228) for uE3. The percentage of laboratories for which all six monthly median MoMs were within the target of 0.95 - 1.05 was 14.2% (47/332) for AFP, 0% (0/20) for HCG, 4.3% (4/96) for β-HCG, 12.6% (31/198) for free β-HCG, and 4.8% (11/228) for uE3. Regarding the screening positive rate, there was a difference in the trisomy 21 positive rate in the same laboratory within the six month. There were variations in the types of screening protocols, different kinds of soft platforms, randomness of choice or update of medians or other important parameters, and great difference in the

  12. Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome

    DEFF Research Database (Denmark)

    Viuff, Mette Hansen; Krag, Kirstine Stochholm; Uldbjerg, Niels

    2015-01-01

    STUDY QUESTION: How does a national prenatal screening program for Down syndrome (DS) perform in detecting sex chromosome abnormalities (SCAs)-Turner syndrome (TS), Klinefelter syndrome, 47,XXX and 47,XYY syndromes. SUMMARY ANSWER: The SCA detection rate resulting from DS screening was below 50...... screening procedure detected 87 per 100 000 TS (42% of expected), 19 per 100 000 Klinefelter syndrome (13% of expected), 16 per 100 000 47,XXX (16% of cases) and 5 per 100 000 47,XYY (5% of expected) SCAs, with an overall detection rate of 27%. Compared with controls, all four SCA groups showed...... significantly higher NT and lower PAPP-A compared with controls (all P syndromes (47,XXX: 24%; 47,XYY: 29%; Klinefelter syndrome: 48%, TS: 84%). For SCA fetuses carried to term, only TS fetuses had consistently lower birthweights...

  13. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences.

    Science.gov (United States)

    García, E; Timmermans, D R M; van Leeuwen, E

    2009-07-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper explores whether the active offer of a prenatal screening test indeed confronts women with a moral dilemma. A qualitative study was developed, based on a randomised controlled trial that aimed to assess the decision-making process of women when confronted with a test offer. A sample of 59 women was interviewed about the different factors balanced in decision-making. Participants felt themselves caught between a need for knowledge and their unwillingness to take on responsibility. Conflict was reported between wishes, preferences and ethical views regarding parenthood; however, women did not seem to be caught in a choice between two or more ethical principles. Participants balanced the interests of the family against that of the fetus in line with their values and their personal circumstances. Therefore, we conclude that they are not so much faced with an ethical dilemma as conflicting interests. We propose that caregivers should provide the opportunity for the woman to discuss her wishes and doubts to facilitate her decision. This approach would help women to assess the meaning of testing within their parental duties towards their unborn child and their current offspring.

  14. Advances in prenatal screening and prenatal diagnosis for birth defect%出生缺陷产前筛查及产前诊断研究进展

    Institute of Scientific and Technical Information of China (English)

    吴清明; 周瑾

    2011-01-01

    出生缺陷已成为世界婴儿死亡、儿童和成人残疾的主要原因之一,是目前全世界关注的一个重大公共卫生问题.出生缺陷由遗传因素、环境致畸因素或两者共同作用所致.我国是出生缺陷高发国家,通过早期诊断、早期干预可以避免至少70%出生缺陷.出生缺陷干预是一个系统工程,产前筛查和产前诊断是胎儿出生缺陷干预的有效手段,是出生缺陷干预二级预防中的重要组成部分.%Birth defects has been one of main causes of infant mortality, children and adult disability, and are becoming main public heath problem worldwide. Birth defects are associated with environmental factors, genetic factors or interactions of the genetic factors and environmental factors. It is high rates of birth defects in China, at least 70% of the birth defects can be avoided of early diagnosis is determined and early interventions are performed. Intervention of birth defects is a system process, prenatal screening and prenatal diagnosis are effective interventions, and they are the key components of the secondary prevention in birth defects control.

  15. Attitudes of young adults to prenatal screening and genetic correction for human attributes and psychiatric conditions.

    Science.gov (United States)

    Milner, K K; Collins, E E; Connors, G R; Petty, E M

    1998-03-05

    With recent advances in DNA technology, questions have arisen as to how this technology should be appropriately used. In this article, results obtained from a survey designed to elicit attitudes of college students to prenatal testing and gene therapy for human attributes and psychiatric conditions are reported. The eleven hypothetical disease phenotypes included schizophrenia, alcoholism, tendency toward violent behavior, attention deficit/hyperactivity disorder, depression requiring medical treatment, obesity, involvement in "dangerous" sports activities, homosexuality, borderline normal IQ (80-100), proportional short stature, and inability to detect perfect pitch. Most students supported prenatal genetic testing for psychiatric disorders and behavior that might result in harm to others (i.e., tendency towards violent behavior) and found prenatal genetic testing for human attributes less desirable. However, the lack of unilateral agreement or disagreement toward any one condition or attribute suggests the potential difficulties ahead in the quest for guidelines for the application of new technologies available to manipulate the human genome.

  16. Prenatal Screening for Chromosomal Abnormalities in Tabriz, North-West of Iran

    Directory of Open Access Journals (Sweden)

    Zahra Fardyazar

    2013-09-01

    Full Text Available Background: Several studies have indicated that when compared to non-consanguinous marriage, consanguinous marriage may lead to a higher incidence of congenital abnormalities. The study was performed to evaluate few screening tests to estimate the risk of chromosomal abnormalities in the first trimester compared between familial and non-familial marriages. Materials and Methods: In this cross sectional study, 300 pregnant women with singleton pregnancy presenting to Tabriz Al-Zahra hospital from 2007 to 2009 were enrolled as study population. The participants were evaluated about chromosomal malformations using a combination of NT (Nuchal Translucency, PAPP-A (Pregnancy-Associated Plasma Protein A, and free beta- human chorionic gonadotropin (β-hCG. In positive screening test results, the participants underwent fetal karyotyping using amniocentesis or chorionic villi sampling (CVS.Results: Pregnancies with higher risk were observed more among non-consanguineous marriages. The maternal age was not found to be a determinant in this regard. NT and free β-hCG values (but not PAPP-A were significantly different between the two study groups. The triple screening test had a sensitivity of 100%. There were two cases of Down syndrome both belonging to the maternal age less than 35 years and non-consanguineous marriages.Conclusion: Considering that a statistically significant association was not observed between abnormal test results and pregnancy complications (p=0.73, it seems that it is essential to use screening tests in all pregnant women. Especially that the only two pregnancies with Down syndrome in our study were under 35 years of age.

  17. Determining prenatal, early childhood and cumulative long-term lead exposure using micro-spatial deciduous dentine levels.

    Directory of Open Access Journals (Sweden)

    Manish Arora

    Full Text Available The aim of this study was to assess the validity of micro-spatial dentine lead (Pb levels as a biomarker for accurately estimating exposure timing over the prenatal and early childhood periods and long-term cumulative exposure to Pb. In a prospective pregnancy cohort sub-sample of 85 subjects, we compared dentine Pb levels measured using laser ablation-inductively coupled plasma mass spectrometry with Pb concentrations in maternal blood collected in the second and third trimesters, maternal bone, umbilical cord blood, and childhood serial blood samples collected from the ages of 3 months to ≥6 years. We found that Pb levels (as 208Pb:43Ca in dentine formed at birth were significantly associated with cord blood Pb (Spearman ρ = 0.69; n = 27; p<0.0001. The association of prenatal dentine Pb with maternal patella Pb (Spearman ρ = 0.48; n = 59; p<0.0001 was stronger than that observed for tibia Pb levels (Spearman ρ = 0.35; n = 41; p<0.03. When assessing postnatal exposure, we found that Pb levels in dentine formed at 3 months were significantly associated with Pb concentrations in children's blood collected concurrently (Spearman ρ = 0.64; n = 55; p<0.0001. We also found that mean Pb concentrations in secondary dentine (that is formed from root completion to tooth shedding correlated positively with cumulative blood lead index (Spearman ρ = 0.38; n = 75; p<0.0007. Overall, our results support that micro-spatial measurements of Pb in dentine can be reliably used to reconstruct Pb exposure timing over the prenatal and early childhood periods, and secondary dentine holds the potential to estimate long-term exposure up to the time the tooth is shed.

  18. Prenatal lead exposure and relationship with maternal exposure determinants in a public maternity hospital of La Plata, Argentina.

    Science.gov (United States)

    Martins, Enrique; Varea, Ana; Apezteguía, María; González, Horacio F; Girardelli, Ana; Caro, Laura Sanchez; Lobisuto, Mario; Delgado, Griselda; Disalvo, Liliana

    2014-03-01

    Prenatal lead exposure is a health hazard that may cause cognitive development impairments and other adverse effects in children. We conducted a cross sectional study analyzing cord blood lead levels (CBLL) of newborns and their relationship with maternal determinants of lead exposure. Mothers answered a questionnaire about socio-demographic, lifestyle habits and environmental characteristics. We used Mann-Whitney's test to compare CBLL geometrical means (GM) corresponding to the presence or absence of each lead exposure determinant, and Chi square test to study the relationship between CBLL and maternal lead exposure determinants. A total of 159 newborns participated in the study. CBLL GM was 2.1 μg/dL; and 25% of the participants had a measurable CBLL (LOQ=3.3 μg/dl). Although the participants had several determinants of lead exposure, we only found a significant relationship with inside household determinants, such as presence of lead piping (p=0.026), unplastered walls (p=0.046) and peeling paint (p=0.048). Our results show that CBLL GM was similar to that reported in several studies conducted around the world. However, 25% of the participants might have some degree of risk for lead poisoning.

  19. 唐氏综合征产前筛查的研究进展%Research progress of Down's syndrome in prenatal screening

    Institute of Scientific and Technical Information of China (English)

    刘维娜

    2011-01-01

    Down's syndrome (DS), one of the autosomal diseases, is one of the most common genetic type of congenital mental retardation. It occupies for 10%-15% in the children suffering from mental retardation. This disease severely results in birth defects, which affects the mental and physical development and leads to disability or death. There is no effective therapy method in clinic yet. Therefore, it is very important for aristogenesis in prenatal screening and diagnosis for the high-risk patients and termination of pregnancy of women pregnant with DS. The latest research on prenatal screening of DS was reviewed in this paper.%唐氏综合征(Down's syndrome,DS)是一种最常见的常染色体遗传病之一,是先天性智力低下最常见的遗传类型.10%~15%的智力低下儿童罹患该病.该疾病影响个体智能发育和体格发育,是致残和致死的严重出生缺陷,至今尚无有效的治疗方法.因此,对该疾病进行产前筛查,再对受检者中高风险者进行产前诊断,让妊娠DS患儿的孕妇终止妊娠,才能达到优生目的.本文就DS产前筛查的最新研究进展作一综述.

  20. Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

    DEFF Research Database (Denmark)

    Miltoft, Caroline Borregaard; Wulff, Camilla B; Kjærgaard, Susanne

    2017-01-01

    INTRODUCTION: The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). MATERIAL AND METHODS: This was a nationwide population-based study including...... alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. DISCUSSION: In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had...

  1. Impact of the increased adoption of prenatal cfDNA screening on non-profit patient advocacy organizations in the United States.

    Science.gov (United States)

    Meredith, Stephanie; Kaposy, Christopher; Miller, Victoria J; Allyse, Megan; Chandrasekharan, Subhashini; Michie, Marsha

    2016-08-01

    The 'Stakeholder Perspectives on Noninvasive Prenatal Genetic Screening' Symposium was held in conjunction with the 2015 annual meeting of the International Society for Prenatal Diagnosis. During the day-long meeting, a panel of patient advocacy group (PAG) representatives discussed concerns and challenges raised by prenatal cell-free DNA (cfDNA) screening, which has resulted in larger demands upon PAGs from concerned patients receiving prenatal cfDNA screening results. Prominent concerns included confusion about the accuracy of cfDNA screening and a lack of patient education resources about genetic conditions included in cfDNA screens. Some of the challenges faced by PAGs included funding limitations, lack of consistently implemented standards of care and oversight, diverse perspectives among PAGs and questions about neutrality, and lack of access to training and genetic counselors. PAG representatives also put forward suggestions for addressing these challenges, including improving educational and PAG funding and increasing collaboration between PAGs and the medical community. © 2016 John Wiley & Sons, Ltd.

  2. Trends in live birth prevalence of Down syndrome in the Northern Netherlands 1987-96 : the impact of screening and prenatal diagnosis

    NARCIS (Netherlands)

    Wortelboer, MJM; de Wolf, BTHM; Verschuuren-Bemelmans, CC; Reefhuis, J; Mantingh, A; Beekhuis, [No Value; Cornel, MC

    2000-01-01

    In the Northern Netherlands, we examined the live birth prevalence of Down syndrome (DS) and the impact of maternal serum screening (MSS) and prenatal cytogenetic diagnosis (PCD) during the period 1987-96. In this period the live birth prevalence, based on the maternal age distribution and the age s

  3. The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands

    NARCIS (Netherlands)

    Bouman, Katelijne; Bakker, Marian K.; Birnie, Erwin; ter Beek, Lies; Bilardo, Caterina M.; van Langen, Irene M.; de Walle, Hermien E. K.

    2017-01-01

    Background: To evaluate the impact of the introduction of prenatal screening on time of detection and pregnancy outcome for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13). Methods: We performed a retrospective, population-based cohort study in the Northern Netherlands including 503 trisomy

  4. Autism Spectrum Disorder Risk in Relation to Maternal Mid-Pregnancy Serum Hormone and Protein Markers from Prenatal Screening in California

    Science.gov (United States)

    Windham, Gayle C.; Lyall, Kristen; Anderson, Meredith; Kharrazi, Martin

    2016-01-01

    We examined prenatal screening markers and offspring autism spectrum disorder (ASD) using California statewide data on singleton births in 1996 and 2002. Second trimester levels of unconjugated estriol (uE3), human chorionic gonadotropin (hCG), and maternal serum alpha-fetoprotein (MSAFP) were compared between mothers of children with ASD…

  5. The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands

    NARCIS (Netherlands)

    Bouman, Katelijne; Bakker, Marian K.; Birnie, Erwin; ter Beek, Lies; Bilardo, Caterina M.; van Langen, Irene M.; de Walle, Hermien E. K.

    2017-01-01

    Background: To evaluate the impact of the introduction of prenatal screening on time of detection and pregnancy outcome for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13). Methods: We performed a retrospective, population-based cohort study in the Northern Netherlands including 503 trisomy

  6. Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome : preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

    NARCIS (Netherlands)

    Twisk, Moniek; Haadsma, Maaike L.; van der Veen, Fulco; Repping, Sjoerd; Mastenbroek, Sebastiaan; Heineman, Maas-Jan; Bossuyt, Patrick M. M.; Korevaar, Johanna C.

    2007-01-01

    Objective: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. Design: Trade-off

  7. Autism Spectrum Disorder Risk in Relation to Maternal Mid-Pregnancy Serum Hormone and Protein Markers from Prenatal Screening in California

    Science.gov (United States)

    Windham, Gayle C.; Lyall, Kristen; Anderson, Meredith; Kharrazi, Martin

    2016-01-01

    We examined prenatal screening markers and offspring autism spectrum disorder (ASD) using California statewide data on singleton births in 1996 and 2002. Second trimester levels of unconjugated estriol (uE3), human chorionic gonadotropin (hCG), and maternal serum alpha-fetoprotein (MSAFP) were compared between mothers of children with ASD…

  8. Trends in live birth prevalence of Down syndrome in the Northern Netherlands 1987-96 : the impact of screening and prenatal diagnosis

    NARCIS (Netherlands)

    Wortelboer, MJM; de Wolf, BTHM; Verschuuren-Bemelmans, CC; Reefhuis, J; Mantingh, A; Beekhuis, [No Value; Cornel, MC

    2000-01-01

    In the Northern Netherlands, we examined the live birth prevalence of Down syndrome (DS) and the impact of maternal serum screening (MSS) and prenatal cytogenetic diagnosis (PCD) during the period 1987-96. In this period the live birth prevalence, based on the maternal age distribution and the age s

  9. Using a geographic information system to improve childhood lead-screening efforts.

    Science.gov (United States)

    Graff, Robert

    2013-06-13

    The Idaho Division of Public Health conducted a pilot study to produce a lead-exposure-risk map to help local and state agencies better target childhood lead-screening efforts. Priority lead-screening areas, at the block group level, were created by using county tax assessor data and geographic information system software. A series of maps were produced, indicating childhood lead-screening prevalence in areas in which there was high potential for exposure to lead. These maps could enable development of more systematically targeted and cost-effective childhood lead-screening efforts.

  10. Effectiveness of Bacterial Vaginosis Screening Program in Routine Prenatal Care and Its Effect on Decrease of Preterm Labor

    Directory of Open Access Journals (Sweden)

    Mehrnaz Mashoufi

    2012-09-01

    Full Text Available Background & Objectives : Bacterial vaginosis is a condition which is determined by changes in microbial ecosystem of vagina and is considered as a preventable risk factor for preterm delivery. This study was conducted to assess the effectiveness of bacterial vaginosis screening program in routine prenatal care and its effect on decreasing preterm labor.   Methods: This clinical trial study was conducted on 474 pregnant women at gestational stage between 2007 and 2008. The participants were randomly divided into 2 groups: intervention group and control group. Screening was performed in intervention group with Amsel's criteria (3 of 4 needed for diagnosis. Positive cases were given clindamycin cream (2% for one week. The outcome of the delivery was assessed in both groups afterward. Data were analyzed by SPSS11 software using descriptive statistics.   Results: There was no significant difference between two groups regarding pregnancy rank, wanted and unwanted pregnancy, insufficient weight gain, mother vaccination and complication of pregnancy. Bacterial vaginosis was observed in 17 out of 216 (8% in the intervention group and then treated. Prevalence of preterm delivery in the intervention and control groups were 3 (1.4% and 12 (4.7%, respectively. The relative risk was protective (RR: 0.3, DR: 0.033, NNT: 30.   Conclusion: Screening and treatment of bacterial vaginosis in pregnant women could significantly decrease the rate of preterm delivery.

  11. A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States.

    Directory of Open Access Journals (Sweden)

    Brandon S Walker

    Full Text Available Non-invasive prenatal testing (NIPT is a relatively new technology for diagnosis of fetal aneuploidies. NIPT is more accurate than conventional maternal serum screening (MSS but is also more costly. Contingent NIPT may provide a cost-effective alternative to universal NIPT screening. Contingent screening used a two-stage process in which risk is assessed by MSS in the first stage and, based on a risk cutoff, high-risk pregnancies are referred for NIPT. The objective of this study was to (1 determine the optimum MSS risk cutoff for contingent NIPT and (2 compare the cost effectiveness of optimized contingent NIPT to universal NIPT and conventional MSS.Decision-analytic model using micro-simulation and probabilistic sensitivity analysis. We evaluated cost effectiveness from three perspectives: societal, governmental, and payer.From a societal perspective, universal NIPT dominated both contingent NIPT and MSS. From a government and payer perspective, contingent NIPT dominated MSS. Compared to contingent NIPT, adopting a universal NIPT would cost $203,088 for each additional case detected from a government perspective and $263,922 for each additional case detected from a payer perspective.From a societal perspective, universal NIPT is a cost-effective alternative to MSS and contingent NIPT. When viewed from narrower perspectives, contingent NIPT is less costly than universal NIPT and provides a cost-effective alternative to MSS.

  12. A cost-effectiveness analysis comparing different strategies to implement noninvasive prenatal testing into a Down syndrome screening program.

    Science.gov (United States)

    Ayres, Alice C; Whitty, Jennifer A; Ellwood, David A

    2014-10-01

    Currently, noninvasive prenatal testing (NIPT) is only recommended in high-risk women following conventional Down syndrome (DS) screening, and it has not yet been included in the Australian DS screening program. To evaluate the cost-effectiveness of different strategies of NIPT for DS screening in comparison with current practice. A decision-analytic approach modelled a theoretical cohort of 300,000 singleton pregnancies. The strategies compared were the following: current practice, NIPT as a second-tier investigation, NIPT only in women >35 years, NIPT only in women >40 years and NIPT for all women. The direct costs (low and high estimates) were derived using both health system costs and patient out-of-pocket expenses. The number of DS cases detected and procedure-related losses (PRL) were compared between strategies. The incremental cost per case detected was the primary measure of cost-effectiveness. Universal NIPT costs an additional $134,636,832 compared with current practice, but detects 123 more DS cases (at an incremental cost of $1,094,608 per case) and avoids 90 PRL. NIPT for women >40 years was the most cost-effective strategy, costing an incremental $81,199 per additional DS case detected and avoiding 95 PRL. The cost of NIPT needs to decrease significantly if it is to replace current practice on a purely cost-effectiveness basis. However, it may be beneficial to use NIPT as first-line screening in selected high-risk patients. Further evaluation is needed to consider the longer-term costs and benefits of screening. © 2014 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  13. 24 CFR 35.1320 - Lead-based paint inspections, paint testing, risk assessments, lead-hazard screens, and...

    Science.gov (United States)

    2010-04-01

    ... 24 Housing and Urban Development 1 2010-04-01 2010-04-01 false Lead-based paint inspections, paint testing, risk assessments, lead-hazard screens, and reevaluations. 35.1320 Section 35.1320 Housing and Urban Development Office of the Secretary, Department of Housing and Urban Development LEAD-BASED...

  14. Prenatal and perinatal lead exposures alter acoustic cry parameters of neonate.

    Science.gov (United States)

    Rothenberg, S J; Cansino, S; Sepkoski, C; Torres, L M; Medina, S; Schnaas, L; Poblano, A; Karchmer, S

    1995-01-01

    We performed acoustic analyses on cries elicited from a subset of healthy babies born to the Mexico City Prospective Lead Study at 2 days (n = 75), 15 days (n = 176), and 30 days (n = 166). Lead was measured in maternal blood every 8 weeks during pregnancy from week 12 to delivery and in umbilical cord (1-38 micrograms/dL, 0.05-1.84 mumol/L). Percent nasalization and number of cries decreased in babies born to mothers with higher lead levels in the last two trimesters while median fundamental frequency increased in babies born to mothers with higher lead at 12 weeks of pregnancy, and with higher cord lead in multiple regression analysis. Decreased percent nasalization was related to increased brainstem auditory evoked response latencies and interpeak intervals in a subset of the sample. The results suggest an effect of gestational exposure to lead on apparatus innervated by cranial nerves and/or lead effect on cry mediated by lead-altered auditory function. Altered baby cry and auditory function associated with lead might contribute to developmental delays by affecting early communication between caretaker and baby.

  15. Replacing Alpha-Fetoprotein With Alpha-Fetoprotein-L3 Increases the Sensitivity of Prenatal Screening for Trisomy 21.

    Science.gov (United States)

    Huai, Lei; Leng, Jianhang; Ma, Shenglin; Huang, Fang; Shen, Junya; Ding, Yu

    This study aimed to investigate the serum concentration of alpha-fetoprotein (AFP)-L3 in midterm pregnancies and its potential application in prenatal trisomy screening. The serum samples from 27 women with trisomy 21 fetuses and 800 women with normal fetuses were examined to measure the concentrations of AFP, AFP-L3, human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A. The screening results of various tests consisting of these markers were analyzed. In normal pregnancies within 15-20 weeks of gestation, the medians of serum AFP-L3 were 4.63, 5.70, 5.78, 6.58, 7.03, and 7.25 pg/mL. The median of AFP-L3 MoM in the trisomy 21 group was 0.46, which was significantly lower than the value of 1 in the normal group (P < 0.05). When using a cutoff value of 1/270, the sensitivity of the triple marker test (AFP, hCG, uE3) was improved from 74% to 81% by replacing AFP with AFP-L3, with the false-positive rate slightly increased from 5.4% to 6.8%. Similarly, the sensitivity of the quad marker test (AFP, hCG, uE3, inhibin-A) was improved from 81% to 89% by replacing AFP with AFP-L3, with the false-positive rate slightly increased from 4.6% to 5.6%. Serum AFP-L3 concentration increases along with more weeks of gestation in the midterm pregnancies. Trisomy 21 screening tests with AFP replaced by AFP-L3 have higher sensitivities at the expense of slightly increased false-positive rates. This improvement in screening may help to better prepare the parents and caregivers for the special needs of newborns with trisomy 21.

  16. Increased hippocampal Disrupted-In-Schizophrenia 1 expression in mice exposed prenatally to lead

    Institute of Scientific and Technical Information of China (English)

    Yuanyuan You; Liguang Sun; Bo Peng; Yan Li; Songbin Ben; Shuang Gao

    2012-01-01

    Disrupted-In-Schizophrenia 1 is a susceptibility gene for schizophrenia and other psychiatric disorders.Developmental lead exposure can cause neurological disorders similar to hyperactivity disorder,dyslexia and schizophrenia. In the present study, we examined the impact of developmental lead exposure, administered in vitro and in vivo, on hippocampal Disrupted-In- Schizophrenia 1 expression. Our results show that in cultured hippocampal neurons, in vitro exposure to 0.1-10 μM lead, inhibited neurite growth and increased Disrupted-In-Schizophrenia 1 mRNA and protein expression dose-dependently. In addition, blood lead levels in mice were increased with increasing mouse maternal lead (0.01-1 mM) exposure. Hippocampal neurons from these mice showed a concomitant increase in Disrupted-In-Schizophrenia 1 mRNA and protein expression. Overall our findings suggest that in vivo and in vitro lead exposure increases Disrupted-In-Schizophrenia 1 expression in hippocampal neurons dose-dependently, and consequently may influence synapse formation in newborn neurons.

  17. Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening.

    Science.gov (United States)

    Cohen, Paul A; Flowers, Nicola; Tong, Stephen; Hannan, Natalie; Pertile, Mark D; Hui, Lisa

    2016-08-24

    Non-invasive prenatal testing (NIPT) identifies fetal aneuploidy by sequencing cell-free DNA in the maternal plasma. Pre-symptomatic maternal malignancies have been incidentally detected during NIPT based on abnormal genomic profiles. This low coverage sequencing approach could have potential for ovarian cancer screening in the non-pregnant population. Our objective was to investigate whether plasma DNA sequencing with a clinical whole genome NIPT platform can detect early- and late-stage high-grade serous ovarian carcinomas (HGSOC). This is a case control study of prospectively-collected biobank samples comprising preoperative plasma from 32 women with HGSOC (16 'early cancer' (FIGO I-II) and 16 'advanced cancer' (FIGO III-IV)) and 32 benign controls. Plasma DNA from cases and controls were sequenced using a commercial NIPT platform and chromosome dosage measured. Sequencing data were blindly analyzed with two methods: (1) Subchromosomal changes were called using an open source algorithm WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR). Genomic gains or losses ≥ 15 Mb were prespecified as "screen positive" calls, and mapped to recurrent copy number variations reported in an ovarian cancer genome atlas. (2) Selected whole chromosome gains or losses were reported using the routine NIPT pipeline for fetal aneuploidy. We detected 13/32 cancer cases using the subchromosomal analysis (sensitivity 40.6 %, 95 % CI, 23.7-59.4 %), including 6/16 early and 7/16 advanced HGSOC cases. Two of 32 benign controls had subchromosomal gains ≥ 15 Mb (specificity 93.8 %, 95 % CI, 79.2-99.2 %). Twelve of the 13 true positive cancer cases exhibited specific recurrent changes reported in HGSOC tumors. The NIPT pipeline resulted in one "monosomy 18" call from the cancer group, and two "monosomy X" calls in the controls. Low coverage plasma DNA sequencing used for prenatal testing detected 40.6 % of all HGSOC, including 38 % of early stage cases. Our

  18. Feasibility Study on Prenatal Cardiac Screening Using Four-Dimensional Ultrasound with Spatiotemporal Image Correlation: A Multicenter Study.

    Directory of Open Access Journals (Sweden)

    Liqing Zhao

    Full Text Available This study aimed at investigating the feasibility of using the spatiotemporal image correlation (STIC technology for prenatal cardiac screening, finding factors that influence the offline evaluation of reconstructed fetal heart, and establishing an optimal acquisition scheme.The study included 452 gravidae presenting for routine screening at 3 maternity centers at 20-38 gestational weeks. The factors influencing the quality of STIC volume data were evaluated using t test, chi-square test, and logistic regression analysis. The predictive power was evaluated using the receiver operating characteristic (ROC curve.Among the 452 fetuses enrolled, 353 (78.1% were identified as successful and 99 (21.9% as failure of evaluation of the reconstructed fetal heart. The total success rate of qualified STIC images was 78.1%. The display rates of reconstructed cardiac views were 86.5% (four-chamber view, 92.5% (left ventricular outflow tract view, 92.7% (right ventricular outflow tract view, 89.9% (three-vessel trachea view, 63.9% (aortic arch view, 81.4% (ductal arch view, 81% (short-axis view of great vessels, 80.1% (long-cava view, and 86.9% (abdominal view. A logistic regression analysis showed that more than 28 gestational weeks [OR = 0.39 (CI 95% 0.16, 0.19, P = 0.035], frequent fetal movements [OR = 0.37 (CI 95% 0.16, 0.87, P = 0.022], shadowing [OR = 0.36 (CI 95% 0.19, 0.72, P = 0.004], spine location at 10-2 o'clock [OR = 0.08 (CI 95% 0.02, 0.27, P = 0.0], and original cardiac view [OR = 0.51 (0.25, 0.89, P = 0.019] had a significant impact on the quality of STIC. The area under the ROC curve was 0.775.Fetal cardiac-STIC seems a feasible tool for prenatal screening of congenital heart diseases. The influence factors on the quality of STIC images included the intensity of training, gestational age, fetal conditions and parameter settings. The optimal acquisition scheme may improve the application and widespread use of cardiac STIC.

  19. Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening

    DEFF Research Database (Denmark)

    Jørgensen, Ditte E S; Vejlstrup, Niels; Jørgensen, Connie;

    2015-01-01

    OBJECTIVES: The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS: Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed...... regarding prenatal detection rate and accuracy, as well as correlation with nuchal translucency (NT) thickness. RESULTS: Out of 86 121 infants, 831 were born with CHD (0.96%). The prenatal detection rate of 'all CHD' was 21.3%, of 'Major CHD' 47.4%. Full agreement between prenatal and postnatal....../autopsy findings was found in 96% of prenatally detected diagnoses. An NT thickness >95(th) percentile was found in 15.0% fetuses with 'Major CHD'. Of 'Major CHDs' detected prenatally, 77% were picked up at the time of the malformation scan at weeks 18-21. CONCLUSIONS: Nearly half of 'Major CHDs' were detected...

  20. Routine prenatal screening for congenital heart disease: what can be expected? A decision-analytic approach

    NARCIS (Netherlands)

    E. Buskens (Erik); E.W. Steyerberg (Ewout); J. Hess (Jakob); J.W. Wladimiroff (Juriy); D.E. Grobbee (Diederick)

    1997-01-01

    textabstractOBJECTIVES: This study assessed the potential impact of fetal ultrasound screening on the number of newborns affected by cardiac anomalies. METHODS: A decision model was developed that included the prevalence and history of congenital heart disease, characte

  1. Routine prenatal screening for congenital heart disease: what can be expected? A decision-analytic approach

    NARCIS (Netherlands)

    E. Buskens (Erik); E.W. Steyerberg (Ewout); J. Hess (Jakob); J.W. Wladimiroff (Juriy); D.E. Grobbee (Diederick)

    1997-01-01

    textabstractOBJECTIVES: This study assessed the potential impact of fetal ultrasound screening on the number of newborns affected by cardiac anomalies. METHODS: A decision model was developed that included the prevalence and history of congenital heart disease, characte

  2. Is prenatal screening for Down syndrome needed in young pregnant women?

    Directory of Open Access Journals (Sweden)

    Rekha S. Dhamnaskar

    2016-12-01

    Conclusions: It can be concluded that the triple marker test is indeed only a screening test for the DS and that it has to be confirmed with the help of chromosomal analysis. The higher maternal age is an important parameter in DS but nowadays, even ones with a lower maternal age can also have a child with DS. So, in general, now all women are recommended to go for biochemical screening during their pregnancy. [Int J Res Med Sci 2016; 4(12.000: 5393-5398

  3. Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening.

    Science.gov (United States)

    Miltoft, Caroline Borregaard; Wulff, Camilla B; Kjærgaard, Susanne; Ekelund, Charlotte K; Tabor, Ann

    2017-01-01

    The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). This was a nationwide population-based study including infants born in 2009-2012. Information from the cFTS, fetal karyotype results and pregnancy outcome was obtained from the Danish Fetal Medicine Database on all women with a cFTS risk assessment. Cut-off for referral for invasive testing was ≥1:300. Karyotype results from pregnancies with no cFTS were obtained from the Danish Cytogenetic Central Registry. The uptake rate of cFTS was 91.6%, and 82.8% (8,032/9,704) of the screen-positive women opted for invasive testing. Overall, 82.2% (454/552) chose to terminate an affected pregnancy. In the 4-year period, 102 of 232,962 singletons were born alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had not opted for cFTS or were true-positive but declined invasive testing or termination, and 48.0% were born after a false-negative risk assessment. © 2016 S. Karger AG, Basel.

  4. Amniocentesis for the detection of congenital toxoplasmosis: results from the nationwide Austrian prenatal screening program.

    Science.gov (United States)

    Prusa, A-R; Kasper, D C; Pollak, A; Olischar, M; Gleiss, A; Hayde, M

    2015-02-01

    Prenatal diagnosis of congenital toxoplasmosis (CT) influences therapeutical management in pregnant women and their offspring. In Austria, a nationwide serological healthcare program to identify potential maternal toxoplasma infections during pregnancy exists. We assessed the clinical use of amniocentesis for toxoplasma-specific polymerase chain reaction (PCR) on amniotic fluid to detect CT. Data on serology, amniocentesis, PCR, complications, treatment, and paediatric clinical outcome were collected retrospectively among the birth cohort 1992-2008. There were 1386 women with amniocentesis, but only in 707 cases (51%) was acute maternal infection confirmed serologically. A high proportion (49%) of amniocenteses with negative PCR results in women with chronic infection or seronegativity were performed without clinical justification for the women or their foetuses. The positive and negative predictive values of PCR were 94.4% and 99.3%, respectively. Thirty-nine foetuses with CT, including four deaths, were reported. The five PCR-negative but infected infants were identified by the serological and clinical follow-up program. Thirty percent of amniocenteses were performed in the third trimester, and gestational age or treatment did not influence PCR sensitivity. Amniocentesis is indicated in women with acute maternal infection, and facilitated targeted therapies in pregnant women and their offspring. In women with late toxoplasma infection, negative amniotic fluid PCR made treatment of infants unnecessary. Serological and clinical follow-up of infants is important to confirm the infection status of the infant. Recommendations, based on our 17-year experience, to improve the current diagnostic strategies and to reduce unnecessary amniocentesis, are given.

  5. MeDIP Real-Time qPCR has the Potential for Noninvasive Prenatal Screening of Fetal Trisomy 21.

    Science.gov (United States)

    Kazemi, Mohammad; Salehi, Mansoor; Kheirollahi, Majid

    2017-01-01

    This study aimed to verify the reliability of the 7 tissue differentially methylated regions used in the methylated DNA immunoprecipitation (MeDIP) real- time quantitative polymerase chain reaction (real-time qPCR) based approach of fetal DNA in maternal blood to diagnosis of fetal trisomy 21. Forty pregnant women with high risk pregnancy who were referred after first or second trimester screening tests, were selected randomly. For each sample whole DNA extraction (mother and fetus), fragmentation of DNA, immunoprecipitation of methylated DNA and real- time qPCR using 7 primer pairs was performed. D-value for each sample was calculated using the following formula D = -4.908+ 0.254 XEP1+ 0.409 XEP4+ 0.793 XEP5+ 0.324 XEP6+ 0.505 XEP7+ 0.508 XEP9+ 0.691 XEP12. In all normal cases, D value was negative, while it was positive in all trisomy cases. Therefore, all normal and trisomy 21 cases were classified correctly which correspond to 100% specificity and 100% sensitivity for this method. The MeDIP real-time qPCR method has provided the opportunity for noninvasive prenatal diagnosis of fetal trisomy 21 to be potentially employed into the routine practice of diagnostic laboratories.

  6. Cost effectiveness, the economic considerations of prenatal screening strategies for trisomy 21 in the Czech Republic.

    Science.gov (United States)

    Dhaifalah, I; Májek, O

    2012-02-01

    To perform an incremental cost-effectiveness analysis for screening of trisomy 21 (Down syndrome) in the Czech Republic through a decision tree model designed to evaluate the costs and potential risks involved in using different strategies of screening. METHODS AND DATA ANALYSIS: Using decision-analysis modelling, we compared the cost-effectiveness of nine possible screening strategies for trisomy 21: 1. maternal age > or = 35 in first trimester, 2. maternal age > or = 35 in second trimester, 3. second trimester triple test (AFP, hCG, mu E3), 4. nuchal translucency measurement, 5. first trimester serum test (PAPP-A, fbeta-hCG), 6. first trimester combined (nuchal translucency, PAPP-A, fbeta-hCG) not in OSCAR manner, 7. first trimester combined (nuchal translucency, PAPP-A, fbeta-hCG) in OSCAR manner, 8. first trimester combined (nuchal translucency, nasal bone, PAPP-A, fbeta-hCG) not in OSCAR manner, 9. first trimester combined (nuchal translucency, nasal bone, PAPP-A, fbeta-hCG) in OSCAR manner. The analysis is performed from a health care payer perspective using relevant cost and outcomes related to each screening strategy in a cohort of 118,135 pregnant women presenting around 12 weeks of pregnancy in the Czech Republic. Using a computer spreadsheet Excel (Microsoft Corporation, Redmond, Wash) the following outcomes: overall cost-effectiveness, trisomy 21 cases detected, trisomy 21 live birth prevented and euploid losses from invasive procedures were obtained. The incremental cost-effectiveness ratios were also calculated by a comparison of strategy nine and strategy three (the current practice in the Czech Republic). Under the baseline assumptions, the model favors strategy nine as the most cost-effective trisomy 21 screening strategy. This strategy was the least expensive strategy per trisomy 21 cases averted. Although all the other strategies cost less, they all had lower trisomy 21 detection rates and higher numbers of procedure-related losses (except for

  7. [A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province].

    Science.gov (United States)

    Zhou, Yu-qiu; Mo, Qiu-hua; Lu, Jin-han; Li, Li-yan; Liang, Xiong; Jia, Shi-qi; Xiao, Ge-fei; Zhou, Wan-jun; Xiao, Qi-zhi; Xu, Xiang-min

    2008-06-01

    To describe a community-based model for prevention and control of severe alpha and beta thalassemias in Zhuhai city of Guangdong province. Couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled in this prospective screening program, which was supported by the two-level network composed of 6 local hospitals for testing thalassemias and follow-up for genetic counseling. A conventional heterozygote screening strategy was used to determine alpha and beta thalassemia traits in women and their partners according to the standard procedures of hematological phenotype analysis. Then confirmative diagnosis of alpha and beta thalassemia was performed on those couples suspected at-risk for severe thalassemia by using the PCR-based molecular diagnostic assays. The couples at-risk for severe thalassemia were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus. During the period between January 1998 and December 2005, the screened records included 85522 young females and their partners for premarital screening and 10439 pregnant women for prenatal screening, with 71.38% coverage of total population recorded in this city for premarital screening. Six thousands five hundreds and sixty-three individuals in total were found to be the carriers of thalassemias, with 4312 for alpha thalassemia (4.5%) and 2251 for beta thalassemia (2.3%), respectively. One hundred and forty-eight couples were diagnosed to be at-risk for thalassemias, including 103 for alpha thalassemia and 45 for beta thalassemia, respectively. Successful prenatal diagnosis was made for 142 (98 for alpha thalassemia and 44 for beta thalassemia) out of 148 (95.9%) pregnancies at-risk for severe thalassemias. Twenty-three cases of hydrops fetalis, 4 of Hb H diseases and 14 of beta thalassemia were identified. All 41 pregnancies with affected fetuses were voluntarily terminated. Thus, this has led to a marked decrease of severe

  8. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing

    Science.gov (United States)

    Chen, Yi-Yao; Li, Shu-Yuan; Zhang, Lan-Lan; Shen, Ying-Hua; Chang, Chun-Xin; Xiang, Yu-Qian; Huang, He-Feng; Xu, Chen-Ming

    2017-01-01

    X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family. Next-generation sequencing (NGS)-based multigene panel was used in carrier screening of the pregnant woman. Variants of immunodeficiency related genes were analyzed and prioritized. Candidate variant was verified by using Sanger sequencing. The possible influence of the identified variant was evaluated through RNA assay. Amniocentesis, karyotyping, and Sanger sequencing were performed for prenatal testing. We identified a novel de novo frameshift SH2D1A pathogenic variant (c.251_255delTTTCA) in the pregnant carrier. Peripheral blood RNA assay indicated that the mutant transcript could escape nonsense-mediated mRNA decay (NMD) and might encode a C-terminal truncated protein. Information of the variant led to success prenatal diagnosis of the fetus. In conclusion, our study clarified the genetic diagnosis and altered disease prevention for a pregnant carrier of XLP1. PMID:28231257

  9. Screening Technique for Lead and Cadmium in Toys and Other Materials Using Atomic Absorption Spectroscopy

    Science.gov (United States)

    Brouwer, Henry

    2005-01-01

    A simple procedure to quickly screen different consumer products for the presence of lead, cadmium, and other metals is described. This screening technique avoids expending a lot of preparation time on samples known to contain low levels of hazardous metals where only samples testing positive for the desired elements need to be analyzed…

  10. Prenatal diagnosis of Cantrell pentalogy in first trimester screening: case report and review of literature

    Science.gov (United States)

    Ergenoğlu, Mete Ahmet; Yeniel, A. Özgür; Peker, Nuri; Kazandı, Mert; Akercan, Fuat; Sağol, Sermet

    2012-01-01

    Pentalogy of Cantrell is a heterogeneous and rare thoraco-abdominal wall closure defect with the estimated prevalence of 1/65.000 to 1/200.000 births. Supraumbilical midline wall defect (generally omphalocele), deficiency of the anterior diaphragm and diaphragmatic peritoneum, defect of the lower sternum and several intracardiac defects are the components of Cantrell pentalogy. Etiology is unknown but a defect on the lateral mesoderm during the early stage of pregnancy is the most accepted hypothesis. Nowadays both 2- dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis. In our case, a fetus with 11 weeks of gestation was reported as Cantrell pentalogy during first trimester screening. Additionally, unilateral limb defect and lumbar lordoscoliosis were detected through 3D sonography. Pregnancy was terminated according to parental desire. Karyotype was 46 XY. Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. Prognosis seems to be poor in patients with complete Cantrell syndrome and patients with associated anomalies. Termination is the choice of treatment. Early diagnosis gives us a chance to reduce maternal morbidity and mortality related to termination. PMID:24592026

  11. Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

    DEFF Research Database (Denmark)

    Boyle, B; Morris, J K; McConkey, R

    2014-01-01

    OBJECTIVE: To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome. DESIGN: Population-based prevalence study based on EUROCAT congenital anomaly registries. SETTING: Eight European countries. POPULATION: 14...

  12. Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation

    Directory of Open Access Journals (Sweden)

    Anjurani Siddesh

    2017-01-01

    Interpretation & conclusions: Amongst prenatally detected malformations, CNS malformations were common. NTD, which largely is a preventable anomaly, continued to be the most common group. Moreover, 60 per cent of malformations were diagnosed after 20 weeks, posing legal issues. Chromosomal analysis and foetal autopsy are essential for genetic counselling based on aetiological diagnosis.

  13. Genetic counseling, prenatal screening and diagnosis of Down syndrome in the second trimester in women of advanced maternal age: a prospective study

    Institute of Scientific and Technical Information of China (English)

    QI Qing-wei; JIANG Yu-lin; ZHOU Xi-ya; LIU Jun-tao; YIN Jie; BIAN Xu-ming

    2013-01-01

    Background The incidence of autosomal trisomy in livebirths is strongly dependent on maternal age.Special consideration is given to the provision of prenatal screening and cytogenetic testing to women of advanced maternal age (AMA).The aim of this study was to evaluate the effectiveness of second trimester prenatal screening and amniocentesis for Down syndrome (DS) and compare the trends of choice of screening and amniocentesis among AMAwomen.Methods A total of 5404 AMA patients with natural singleton pregnancy were recruited for this prospective study from January 2008 to December 2010.The gestational weeks were from 15 weeks to 20+6 weeks.The patients referred were grouped into a screening group (2107 cases) and an amniocentesis group (3297 cases) by their own decision.The prevalence of DS was compared between the two groups by chi-square test.Choice rates for each maternal age with trends were compared by regression analysis.Results There were 18 cases of fetal DS detected in the screening group with a prevalence of 8.54‰ (18/2107).Twentyfive cases of fetal DS were diagnosed in the amniocentesis group with a prevalence of 7.58‰ (25/3297).No statistical difference was observed in the prevalence of DS between the screening and amniocentesis group (P=0.928).The invasive testing rate for DS in the amniocentesis group was 5.54 times higher than that of the screening group (1/131.88 vs.1/23.78).With the increase of the maternal age,the choice of amniocentesis increased while the choice of the screening showed an opposite trend.The choice of the AMA women between the screening and amniocantesis was significantly age relevant (P=0.012).Conclusions The second trimester serum screening in combination with maternal age was more effective than maternal age alone to screen for DS.We suggest educating the patients by recommending AMA women be informed of both screening and amniocentesis options.

  14. Prenatal Testing: Is It Right for You?

    Science.gov (United States)

    Healthy Lifestyle Pregnancy week by week Prenatal testing, including screening and diagnostic tests, can provide valuable information about your baby's ... 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-testing/art- ...

  15. Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects.

    Science.gov (United States)

    Wilson, R Douglas; Wilson, R Douglas; Audibert, Francois; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Cartier, Lola; Chitayat, David; Gagnon, Alain; Johnson, Jo-Ann; Langlois, Sylvie; MacDonald, W Kim; Murphy-Kaulbeck, Lynn; Okun, Nanette; Pastuck, Melanie; Popa, Vanessa

    2014-10-01

    Objectif : Fournir, aux professionnels de la santé des domaines de l’obstétrique et de la génétique, des lignes directrices et des recommandations en ce qui a trait au dépistage / diagnostic prénatal et à la prise en charge obstétricale du dysraphisme spinal ouvert / fermé (DSOF) chez le fœtus. Options : La présente analyse englobe les techniques de dépistage / diagnostic prénatal qui sont actuellement utilisées aux fins de la détection du DSOF, y compris le dépistage des concentrations sériques en alphafoetoprotéines chez la mère, l’échographie, l’imagerie par résonance magnétique visant le fœtus et l’amniocentèse. Issues : Améliorer le dépistage / diagnostic prénatal et la prise en charge obstétricale du DSOF, tout en prenant en considération les soins offerts à la patiente, l’efficacité, les coûts et les interventions de soins. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans PubMed ou MEDLINE, CINAHL et The Cochrane Library en novembre 2013 au moyen d’un vocabulaire contrôlé et de mots clés appropriés (p. ex. « prenatal screening », « congenital anomalies », « neural tube defects », « alpha-fetoprotein », « ultrasound scan », « magnetic resonance imaging »). Les résultats ont été restreints aux analyses systématiques, aux essais comparatifs randomisés / essais cliniques comparatifs et aux études observationnelles publiés en anglais entre 1977 et 2012. Les recherches ont été mises à jour de façon régulière et ont été intégrées à la directive clinique jusqu’au 30 novembre 2013. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d

  16. Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

    OpenAIRE

    Gross, S. J.; Stosic, M.; McDonald‐McGinn, D. M.; Bassett, A.S.; Norvez, A.; Dhamankar, R.; Kobara, K.; Kirkizlar, E.; Zimmermann, B.; Wayham, N.; Babiarz, J. E.; Ryan, A; Jinnett, K. N.; Demko, Z.; Benn, P.

    2016-01-01

    ABSTRACT Objectives To evaluate the performance of a single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow‐up and review patient choices for women with high‐risk results. Methods In this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a SNP‐based NIPT and subsequently evaluated. Follow‐up was conducted for all cases with a high‐risk re...

  17. 孕中期产前筛查的价值%Value of prenatal screening during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    左振伟; 杜焕青; 白洁; 侯灵彤

    2012-01-01

    目的:探讨产前筛查在孕中期产前诊断中的价值.方法:2006年1月~ 2009年9月对2 880例孕16~20周的妇女行产前筛查,检测其血清中甲胎蛋白(AFP)、游离β绒毛膜促性腺激素(F-βHCG)和游离雌三醇(μE3)浓度,结合年龄、体重等因素,评定危险系数.高危孕妇进行羊膜腔穿刺,羊水细胞染色体核型检查以确诊.结果:共有2 880例孕妇接受筛查.其中筛出唐氏综合征(DS)高风险5例,经羊水细胞染色体核型分析确诊2例;18-三体高风险2例,确诊1例:神经管缺陷(NTD)高风险2例,确诊2例.所有筛查孕妇均随访至胎儿出生,1例筛查阴性的孕妇分娩唐氏儿.结论:产前筛查可提高先天缺陷儿的检出率,是提高出生人口素质的有效技术措施.%Objective; To explore the value of prenatal screening in prenatal diagnosis of women during the second trimester of pregnancy. Methods; A total of 2 880 women during 16 -20 gestational weeks received prenatal screening from January 2006 to September 2009, the serum levels of alpha fetoprotein (AFP) , free human ($ gonadotropin (F - pHCG) , and free estriol were detected, the risk index was evaluated combined with other factors, such as age and body weight. The high risk pregnant women underwent anmiocentesis, then they were diagnosed definitely by chromosomal karyotype test of amniotic fluid cells. Results ? A total of 2 880 pregnant women received prenatal screening, five pregnant women were found with high risk of Downs syndrome, after chromosomal karyotype test of amniotic fluid cells, two pregnant women were diagnosed definitely; two pregnant women were found with high risk of trisomy 18, after chromosomal karyotype test of amniotic fluid cells, one pregnant woman was diagnosed definitely; two pregnant women were found with high risk of neural tube defect, after chromosomal karyotype test of amniotic fluid cells, two pregnant women were diagnosed definitely. All the pregnant women were

  18. Bibliometic analysis on the prenatal screening and diagnosis of Down' s syndrome in China%国内唐氏综合征产前筛查及诊断研究文献计量分析

    Institute of Scientific and Technical Information of China (English)

    陈云香; 王书平; 王坤; 惠文; 李雪; 吴华章

    2013-01-01

    目的 系统分析国内关于唐氏综合征产前筛查和产前诊断研究的文献,为制定适合我国国情的产前筛查方案提供参考.方法 以“唐氏综合征”或“DS”、“产前筛查”和“产前诊断”为主题词,对中国期刊全文专题数据库等的文献进行检索,检索年限为1987-2012年.并对符合纳入标准的文献进行数据提取和统计分析.结果 检索到符合纳入标准的文献90篇.统计分析结果显示我国产前筛查的策略主要是孕中期的血清学二联筛查,产前诊断的取样方法主要是羊膜腔穿刺,诊断方法主要为染色体核型分析.结论 选择合适的筛查策略及截断值是目前产前筛查的重要研究方向,增加筛查指标及采用孕早期联合筛查将是我国未来产前筛查的趋势.%Objective To systematically analyze the domestic articles about prenatal screening and diagnosis of down's syndrome and provide basis for formulating new prenatal screening plan suitable for current conditions in China. Methods We searched the full text databases of China with subject terms containing "down's syndrome"/ "DS", " prenatal screening" and "prenatal diagnosis" and defining the published year between 1987 and 2012. After that, the data from the articles meeting the criteria was extracted and analyzed statistically. Results Totally 90 articles were included in the study. Statistical analysis showed that the strategy of prenatal screening in China is mainly in the second-trimester with serological double marker screening, prenatal diagnosis sampling method is mainly amniocentesis(AC), diagnosis methods mainly the analysis of the chromosome karyotypes. Conclusions Choosing appropriate screening strategies and truncation value are currently important research directions of prenatal screening, increasing the screening indexes and screening in the first-trimester will be the trend of prenatal screening in the future in China.

  19. An Automated Microscale Thermophoresis Screening Approach for Fragment-Based Lead Discovery.

    Science.gov (United States)

    Linke, Pawel; Amaning, Kwame; Maschberger, Melanie; Vallee, Francois; Steier, Valerie; Baaske, Philipp; Duhr, Stefan; Breitsprecher, Dennis; Rak, Alexey

    2016-04-01

    Fragment-based lead discovery has proved to be an effective alternative to high-throughput screenings in identifying chemical matter that can be developed into robust lead compounds. The search for optimal combinations of biophysical techniques that can correctly and efficiently identify and quantify binding can be challenging due to the physicochemical properties of fragments. In order to minimize the time and costs of screening, optimal combinations of biophysical techniques with maximal information content, sensitivity, and robustness are needed. Here we describe an approach utilizing automated microscale thermophoresis (MST) affinity screening to identify fragments active against MEK1 kinase. MST identified multiple hits that were confirmed by X-ray crystallography but not detected by orthogonal methods. Furthermore, MST also provided information about ligand-induced aggregation and protein denaturation. The technique delivered a large number of binders while reducing experimentation time and sample consumption, demonstrating the potential of MST to execute and maximize the efficacy of fragment screening campaigns.

  20. Infant outcomes among women with Zika virus infection during pregnancy: results of a large prenatal Zika screening program.

    Science.gov (United States)

    Adhikari, Emily H; Nelson, David B; Johnson, Kathryn A; Jacobs, Sara; Rogers, Vanessa L; Roberts, Scott W; Sexton, Taylor; McIntire, Donald D; Casey, Brian M

    2017-03-01

    Zika virus infection during pregnancy is a known cause of congenital microcephaly and other neurologic morbidities. We present the results of a large-scale prenatal screening program in place at a single-center health care system since March 14, 2016. Our aims were to report the baseline prevalence of travel-associated Zika infection in our pregnant population, determine travel characteristics of women with evidence of Zika infection, and evaluate maternal and neonatal outcomes compared to women without evidence of Zika infection. This is a prospective, observational study of prenatal Zika virus screening in our health care system. We screened all pregnant women for recent travel to a Zika-affected area, and the serum was tested for those considered at risk for infection. We compared maternal demographic and travel characteristics and perinatal outcomes among women with positive and negative Zika virus tests during pregnancy. Comprehensive neurologic evaluation was performed on all infants delivered of women with evidence of possible Zika virus infection during pregnancy. Head circumference percentiles by gestational age were compared for infants delivered of women with positive and negative Zika virus test results. From March 14 through Oct. 1, 2016, a total of 14,161 pregnant women were screened for travel to a Zika-affected country. A total of 610 (4.3%) women reported travel, and test results were available in 547. Of these, evidence of possible Zika virus infection was found in 29 (5.3%). In our population, the prevalence of asymptomatic or symptomatic Zika virus infection among pregnant women was 2/1000. Women with evidence of Zika virus infection were more likely to have traveled from Central or South America (97% vs 12%, P Zika virus infection. Additionally, there was no difference in mean head circumference of infants born to women with positive vs negative Zika virus testing. No microcephalic infants born to women with Zika infection were identified

  1. Overestimated lead times in cancer screening has led to substantial underestimation of overdiagnosis

    DEFF Research Database (Denmark)

    Zahl, P-H; Juhl Jørgensen, Karsten; Gøtzsche, P C

    2013-01-01

    Published lead time estimates in breast cancer screening vary from 1 to 7 years and the percentages of overdiagnosis vary from 0 to 75%. The differences are usually explained as random variations. We study how much can be explained by using different definitions and methods.......Published lead time estimates in breast cancer screening vary from 1 to 7 years and the percentages of overdiagnosis vary from 0 to 75%. The differences are usually explained as random variations. We study how much can be explained by using different definitions and methods....

  2. Integration of virtual and high throughput screening in lead discovery settings.

    Science.gov (United States)

    Polgár, Tímea; Keseru, György M

    2011-12-01

    In the last decade mass screening strategies became the main source of leads in drug discovery settings. Although high throughput (HTS) and virtual screening (VS) realize the same concept the different nature of these lead discovery strategies (experimental vs theoretical) results that they are typically applied separately. The majority of drug leads are still identified by hit-to-lead optimization of screening hits. Structural information on the target as well as on bound ligands, however, make structure-based and ligand-based virtual screening available for the identification of alternative chemical starting points. Although, the two techniques have rarely been used together on the same target, here we review the existing prominent studies on their true integration. Various approaches have been shown to apply the combination of HTS and VS and to better use them in lead generation. Although several attempts on their integration have only been considered at a conceptual level, there are numerous applications underlining its relevance that early-stage pharmaceutical drug research could benefit from a combined approach.

  3. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

    NARCIS (Netherlands)

    Bayindir, Baran; Dehaspe, Luc; Brison, Nathalie; Brady, Paul; Ardui, Simon; Kammoun, Molka; van der Veken, Lars; Lichtenbelt, Klaske; van den Bogaert, Kris; van Houdt, Jeroen; Peeters, Hilde; van Esch, Hilde; de Ravel, Thomy; Legius, Eric; Devriendt, Koen; Vermeesch, Joris R.

    2015-01-01

    Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13. Despite the relative high accuracy of current NIPT testing, a substantial number of false-positive and false-negative test

  4. Coping with worry while waiting for diagnostic results: a qualitative study of the experiences of pregnant couples following a high-risk prenatal screening result.

    Science.gov (United States)

    Lou, Stina; Nielsen, Camilla P; Hvidman, Lone; Petersen, Olav B; Risør, Mette B

    2016-10-21

    It is well documented that pregnant women experience increased worry and uncertainty following a high-risk prenatal screening result. While waiting for diagnostic results this worry continues to linger. It has been suggested that high-risk women put the pregnancy mentally 'on hold' during this period, however, not enough is known about how high-risk women and their partners cope while waiting for diagnostic results. The aim of this study was to identify the strategies employed to cope with worry and uncertainty. Qualitative, semi-structured interviews with 16 high-risk couples who underwent diagnostic testing. The couples were recruited at a university hospital fetal medicine unit in Denmark. Data were analysed using thematic analysis. All couples reported feeling worried and sad upon receiving a high-risk screening result. While waiting for diagnostic results, the couples focused on coming to their own understanding of the situation and employed both social withdrawal and social engagement as strategies to prevent worry from escalating. Additionally, couples used gratitude, reassuring reasoning and selective memory as means to maintain hopes for a good outcome. Discussions about what to do in case of an abnormal test result were notably absent in the accounts of waiting. This bracketing of the potential abnormal result allowed the couples to hold on to a 'normal' pregnancy and to employ an 'innocent-till-proven-guilty' approach to their worries about the fetus's health. None of the interviewed couples regretted having prenatal screening and all of them expected to have prenatal screening in a future pregnancy. The couples in this study did not put the pregnancy mentally 'on hold'. Worry and uncertainty must be understood as managed through a diverse range of practical and emotional strategies that change and overlap in the process of waiting. Clinicians may support appropriate ways of coping with worry and waiting through empathetic and empowering clinical

  5. Decreasing the cutoff for elevated blood lead (EBL) can decrease the screening sensitivity for EBL.

    Science.gov (United States)

    McCloskey, Laura J; Bordash, Frank R; Ubben, Kathy J; Landmark, James D; Stickle, Douglas F

    2013-03-01

    Change in the definition of elevated blood lead (EBL) from greater than or equal to 10 μg/dL (cutoff A) to greater than or equal to 5 μg/dL (cutoff B) was recently endorsed in the United States. A potential effect of this change is to decrease the screening sensitivity for EBL detection. We demonstrate this effect by simulated sampling of an example patient distribution for lead. Using lead-dependent assay imprecision, simulated sampling of the patient distribution tracked individual misclassifications relative to the EBL cutoff. Decreasing the EBL cutoff from A to B reduced screening sensitivity for EBL detection in this population to less than 90%, a decrease of 4%. The result was due to the fact that, for B, a greater fraction of the EBL population was near the EBL cutoff and therefore subject to misclassification due to assay imprecision. The effect of the decreased EBL cutoff to reduce EBL screening sensitivity is likely to apply to EBL screening programs generally.

  6. 3595例孕中期妇女产前筛查结果分析%Analysis of prenatal screening results in 3 595 middle pregnant women

    Institute of Scientific and Technical Information of China (English)

    曹锋; 陈炜

    2014-01-01

    目的:通过检测孕中期孕母血清甲胎蛋白(AFP)、β-人绒毛膜促性腺激素(β-HCG)、非偶联雌三醇(uE3)水平,探讨产前筛查临床应用价值。方法采用化学发光法对3595例孕中期孕妇进行血清 AFP、β-HCG、uE3定量检测,结合孕妇年龄、孕周、体质量等因素,计算风险值。随后对高风险孕妇进行羊水细胞染色体核型分析及 B 超检查。结果3595例孕妇唐氏综合征(DS)、爱德华综合征(ES)、先天性神经管缺陷(NTD)筛查阳性率分别为3.70%(133/3595)、0.11%(4/3595)和1.44%(52/3595)。产前筛查189例为高风险孕妇,其中87例进行染色体核型分析、超声影像等产前诊断,确诊6例,其中 DS 3例、NTD 2例、ES 1例。结论产前筛查是一种无创伤性检测手段,对避免 DS、ES、NTD 患儿出生有重要临床应用价值。%Objective To explore the clinical value of prenatal screening by detecting α-fetoprotein(AFP),β-human chorionic gonadotrophin(β-HCG)and free estriol(u-E3)levels in the second trimester of pregnancy.Methods AFP,β-HCG and u-E3 were de-tected in 3 595 second trimester pregnant women by chemiluminescence.The risk value was calculated by combining with the factors of age,pregnant weeks,body weight,etc.Then the high-risk pregnant women were carried out the amniotic fluid cells chromosome karyotype analysis and B-ultrasonic examination.Results Among 3 595 pregnant women,the screening positive rates of Down′s syndrome(DS),Edward′s syndrome(ES)and neural tube defects(NTD)were 3.70%(133/3 595),0.11%(4/3 595)and 1.44%(52/3 595)respectively.In the prenatal screening,there were 189 cases of high risk pregnant women,among them 87 cases were per-formed the prenatal diagnosis of amniotic fluid cells chromosome karyotype analysis and B-ultrasonic examination,6 cases were defi-nitely diagnosed,in which 3 cases were DS,2 cases were NTD and 1 case was ES

  7. Epidemiologic aspects of neural tube defects in the United States: changing concepts and their importance for screening and prenatal diagnostic programs

    Energy Technology Data Exchange (ETDEWEB)

    Sever, L.E.; Strassburg, M.A.

    1983-09-01

    This report considers several major epidemiologic aspects of neural tube defects (NTDs). After examining briefly the approaches and goals of epidemiology the traditional epidemiologic concepts of NTDs are reviewed and new interpretations of the epidemiology of these defects is suggested. Three major topics are addressed: (1) that much of our knowledge of the epidemiology of the NTDs comes from areas or periods of high rates of occurrence and that generalizations based on these data may not be applicable to low incidence situations; (2) that the etiology of these defects is multifactorial, involving interaction between genetic and nongenetic factors which may differ in their relative importance between populations; and (3) that anencephalus and spina bifida may be more epidemiologically and etiologically distinct than is usually appreciated. A final consideration deals with some recent contributions of epidemiology to screening and prenatal diagnosis programs.

  8. 唐氏征筛查高危孕妇的快速产前诊断%Rapid prenatal diagnosis for the high risk gravid of Down's screening

    Institute of Scientific and Technical Information of China (English)

    周丽颖; 贾婵维; 余兰; 梁毓; 兰永连; 李颖; 王树玉

    2012-01-01

    目的 通过荧光原位杂交(FISH)技术与细胞学对照,研究FISH对于唐氏征筛查高危患者产前诊断的应用价值.方法 应用国产FISH探针,平行细胞染色体分析进行1637名唐氏征筛查高危孕妇的产前诊断.主要检测21,13,18,X和Y染色体.结果 1637例产前诊断病历,共检出非整倍体异常核型33例,FISH检测与细胞染色体分析结果一致.唐筛高危合并高龄易发生染色体非整倍体异常.结论 荧光原位杂交探针应用于唐氏征筛查高危孕妇检测染色体非整倍体异常结果可靠.%Objective To evaluate the application of fluorescence in situ hybridization (FISH) in prenatal diagnosis of chromosome abnormalities. Meanwhile, cytogenetic karyotype analysis was performed as control. Methods; 5 chromosomes (21, 13, 18, X and Y) were detected with FISH. 1637 patients were selected for prenatal diagnosis. Results; Of all 1637 samples, 33 samples were shown with abnormal karyotypes. Results; Of both FISH and cytogenetic karyotype analysis exhibited extreme concordance of 5 chromosomes. Abnormal karyotypes was common in gravid of high risk of Downs screening with advanced age. Conclusion; FISH probes can effectively detect abnormal karyotypes in high risk gravid of Downs screening.

  9. SCREENING OF PRESCHOOL CHILDREN FOR BLOOD LEAD LEVELS AT KIMS HOSPITAL

    Directory of Open Access Journals (Sweden)

    Chandrakala

    2014-03-01

    Full Text Available OBJECTIVE: to screen preschool children for blood lead level with an objective to estimate ZPP levels among preschool children attending OPD and admitted to wards and to confirm blood lead levels in children whose ZPP is>_35ugm/dl. METHODS: hospital based descriptive study conducted at KIMS, BANGALORE from 1st July 2007 to 31st July 2008. 100 preschool children aged between 1 to 6 years who came to OPD and were admitted, were chosen randomly. Data was collected in a simple questionnaire which included demographic, clinical, investigations. Venous blood, 2 ml was drawn and estimated for ZPP. If ZPP >_ 35ugm/dl, then blood samples were estimated for blood lead levels. The data collected in this study was analyzed statistically using chi square test and standard normal variate (Z test for proportions. RESULTS: Out of 100 children, 37% of them had ZPP > 35 ugm/dl .Among these 20% had blood level more >10ugm/dl. Socio economic status affects lead exposure with poor socio economic status group being most prone for lead absorption. Among the 20% who had blood lead levels >10 ugm/dl, 15% of them belonged to urban area and 5% belonged to rural area. Location of the house of children in this study was observed that in industrial area were 85%, mechanic factory were 7%, battery factory were 3%, automobile and cottage industry were 2% . Among 100 children, 57 had hemoglobin % of > 10 gm and 43 were anemic having hemoglobin <10 gm%. CONCLUSION: As lead poisoning patients can be asymptomatic or symptomatic with only vague presentations, screening of blood lead levels should be made as a routine investigation. Awareness should be created regarding the sources of lead, its exposure and potential health effects

  10. Prenatal parenting.

    Science.gov (United States)

    Glover, Vivette; Capron, Lauren

    2017-06-01

    Parenting begins before birth. This includes prenatal maternal and paternal bonding with the baby, and biological effects on fetal development. Recent research has confirmed how prenatal maternal stress can alter the development of the fetus and the child, and that this can persist until early adulthood. Children are affected in different ways depending, in part, on their own genetic makeup. The fetus may also have a direct effect on prenatal maternal mood and later parenting behaviour via the placenta. The father is important prenatally too. An abusive partner can increase the mother's prenatal stress and alter fetal development, but he can also be an important source of emotional support. New research suggests the potential benefits of prenatal interventions, including viewing of prenatal scans and cognitive behavioural therapy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. Case study: technology initiative led to advanced lead optimization screening processes at Bristol-Myers Squibb, 2004-2009.

    Science.gov (United States)

    Zhang, Litao; Cvijic, Mary Ellen; Lippy, Jonathan; Myslik, James; Brenner, Stephen L; Binnie, Alastair; Houston, John G

    2012-07-01

    In this paper, we review the key solutions that enabled evolution of the lead optimization screening support process at Bristol-Myers Squibb (BMS) between 2004 and 2009. During this time, technology infrastructure investment and scientific expertise integration laid the foundations to build and tailor lead optimization screening support models across all therapeutic groups at BMS. Together, harnessing advanced screening technology platforms and expanding panel screening strategy led to a paradigm shift at BMS in supporting lead optimization screening capability. Parallel SAR and structure liability relationship (SLR) screening approaches were first and broadly introduced to empower more-rapid and -informed decisions about chemical synthesis strategy and to broaden options for identifying high-quality drug candidates during lead optimization.

  12. 孕妇地中海贫血的产前筛选与诊断%Prenatal screen and diagnosis of thalassemia.

    Institute of Scientific and Technical Information of China (English)

    卢巧云; 徐婉芳

    2011-01-01

    目的 总结在我院进行产前体检者中开展地中海贫血的产前筛选与诊断结果.研究运用血红蛋白分析法进行孕妇产前筛选与诊断的意义.方法 对2 219对夫妇使用血红蛋白定量法结合基因分析,进行常规地中海贫血筛选.从中筛选出双方同为地中海贫血基因携带者的夫妇,建议其进行相关的产前诊断.对同意进行产前诊断的孕早期孕妇,采取其羊水或绒毛样本进行地中海贫血基因诊断;对同意进行产前诊断的孕中晚期孕妇,以B超下穿刺法抽取脐静脉血样进行地中海贫血基因诊断.结果 检查出夫妇一方为轻度α-地中海贫血基因携带者221例,检出率为4.98%;检查出夫妇一方为轻度β-地中海贫血基因携带者133例,检出率为3.00%.检查出双方均为地中海贫血基因携带者共13对,其中同意进行产前诊断的11例,诊断为中、重型地中海贫血胎儿5例.结论 开展孕妇地中海盆血的产前筛选与诊断,可尽早确诊中、重型地中海贫血胎儿,为家庭和社会减轻了负担与痛苦.%Objective To analyze the results of prenatal screen and diagnosis of thalassemia in 4438 pregnant women. Methods Quantitation of hemoglobin and thalassemia genetic analysis were used for screening thalassemia in 2219 couples. The couples carring thalassemia genes were suggested to take some related prenatal examinations. After permission, amniotic fluid or chorionic villi samples, and umbilical vein blood were collected from early and middle - late gestation respectively for the detection of thalassemia gene. Results Mild alpha - thalassemia gene carrier and mild beta - thalassemia gene carrier in one person of the couple were found in 221 cases ( 4.98% ) and 133 cases ( 3.00% ) respectively;thalassemia gene was found in both husband and wife in 13 couples. Of the 13 couples, 11 agreed to make prenatal diagnosis and 5 foetus of them were diagnosed as heavy thalassemia. Conclusion

  13. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Directory of Open Access Journals (Sweden)

    Ryszard Slezak

    2008-04-01

    Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.

  14. Improved prenatal detection of chromosomal anomalies

    DEFF Research Database (Denmark)

    Frøslev-Friis, Christina; Hjort-Pedersen, Karina; Henriques, Carsten U;

    2011-01-01

    Prenatal screening for karyotype anomalies takes place in most European countries. In Denmark, the screening method was changed in 2005. The aim of this study was to study the trends in prevalence and prenatal detection rates of chromosome anomalies and Down syndrome (DS) over a 22-year period....

  15. Impacts of Elevated Prenatal Blood Lead on Trace Element Status and Pregnancy Outcomes in Occupationally Non-exposed Women

    Directory of Open Access Journals (Sweden)

    JA Obuna

    2011-06-01

    Full Text Available Background:Lead toxicity has been reported to affect hematopoietic, nervous, reproductive, cardiovascular and urinary tract systems. Many investigators have so far studied the effects of high blood lead levels on pregnancy outcomes.Objective: To investigate the effects of elevated maternal blood lead during pregnancy on some trace elements and pregnancy outcomes.Methods: Blood lead and plasma copper, iron and zinc were measured in 349 pregnant women with a mean±SD age of 27.0±4.8 years, and gestational age of 21.8±3.1 weeks, at recruitment using atomic absorption spectrophotometer. Maternal and fetal outcomes were recorded during follow-up and at delivery, respectively. A blood lead level of ≥10 µg/dL was considered high.Results: Women with elevated blood lead had significantly higher plasma copper and iron and lower plasma zinc than women with low blood lead level (Conclusion: Complications of pregnancy may be induced by a high blood lead level possibly through the alterations in trace element metabolism.

  16. Non-invasive prenatal testing for aneuploidy and beyond

    DEFF Research Database (Denmark)

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne

    2015-01-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT ha...

  17. An evaluation of chemical screening test kits for lead in paint

    Energy Technology Data Exchange (ETDEWEB)

    Oglesby, L.S.

    1996-04-01

    The Residential Lead-Based Paint Hazard Reduction Act (Title X) requires abatement and management of lead-based paint. The purpose of this study was to evaluate three chemical screening test kits using materials and methods from one study and subjecting the results to the statistical analysis of another. The three kits were used to predict the presence of lead in paint at ten weight concentrations from 0.04 to 3.97%. Paint was applied to four wood boards yielding a sample size of 40. Four boards were painted with lead-free paint and used as blanks. All of the boards were tested with the three test kits by an untrained individual having no knowledge of the actual lead content. Sensitivity, specificity, and false positive and negative rates were calculated for the test kit results. The manufactures` detection limits, the observed sensitivity ranged from 1.00 to 0.80, specificity ranged from 1.00 to 0.42, false positive ranged from 0 to 58%, and false negatives ranged from 0 to 20%. At the 0.5% Federal threshold level, the observed sensitivity ranged from 1.00 to 0.94, specificity ranged from 1.00 to 0.5, false positives ranged from 0 to 11.1%, and false negatives ranged from 0 to 20%. The observed false positive and false negative rates for all three kits were found to be significantly lower than those reported in a previous study. These results indicate that the kits perform very well at the Federal threshold, with two of the kits having false negative rates below 12.5% and false positive rates of 3.13%. These results indicate that these two kits would probably be acceptable screening tests for lead in paint.

  18. The effectiveness of ultrasound screening in the prenatal diagnosis of fetal malformation%胎儿肢体畸形的产前超声诊断价值

    Institute of Scientific and Technical Information of China (English)

    吕小利; 薛玉; 许建萍; 张歆; 吴新财; 陈宝定

    2015-01-01

    目的:探讨超声筛查诊断胎儿肢体畸形的价值。方法超声筛查8368名孕16~34周的孕妇,运用二维连续顺序追踪超声检测法(SCSA)结合三维超声表面及透明成像模式检查胎儿肢体。结果引产后胎儿肢体畸形22例,产前超声检出21例[9例双足内翻,1例一足外翻,2例四肢短小畸形,1例左小腿缺如,1例双上肢前臂缺如,3例肢体姿势异常,1例双侧桡骨缺失,3例多指(趾)]。其中19例合并其他畸形,1例漏诊及3例部分漏诊。结论二维超声连续顺序追踪检测法结合三维超声表面及透明成像法是产前检出胎儿肢体畸形的有效方法。%Objective To evaluate the effectiveness of ultrasound screening and diagnosis of fetal limb defor-mities. Methods Ultrasound screening of 8 368 cases of pregnancy 16 to 34 weeks pregnant , focus on detection of fetus′limbs by using systematic continuous sequence approach (SCSA) combined with three-dimensional ultrasound. Results After development of fetal limb deformity in 22 cases, prenatal ultrasound detected 21 cases, including 9 cases of varus feet,1 case of valgus foot , 2 cases of short limb deformity, 1 case with left leg absent,1 case of upper forearm absent, 1 cases of pairs of limb posture abnormalities, 3 cases of pairs of limb posture abnormalities, 1 case of Congenital radiu deficiency ,and 3 cases of multiple fingers (toes), with 19 cases complicate with other malformations,1 case of missed diagnosis and missed parts of 3 cases. Conclusion The method of systematic continuous sequence ap-proach (SCSA) in two-dimensional ultrasound combined with three-dimensional ultrasound screening are effective tools for use in prenatal identification ofetal limb deformities.

  19. 产前筛查与诊断的质量控制与热点问题%Quality control and hot issues of maternal serum prenatal screening in China

    Institute of Scientific and Technical Information of China (English)

    吕时铭; 沈凤贤

    2013-01-01

    母血清学产前筛查的质量控制必须强调:孕周和体重等临床因素、测定结果的准确性、风险计算参数、产前筛查数据库等均会影响筛查质量,且产前筛查的结果只是一个风险提示,后续的诊断与随访是关键.现行的中孕期筛查存在检出效率低、假阳性率高等问题,建立适合我国国情的产前筛查和诊断质量管理体系有望提高筛查效率.此外,高龄孕妇及双胎妊娠筛查诊断问题,改进羊水细胞培养方法、提升染色体分析自动化水平,以及快速产前分子诊断技术的引入及定位等问题亟待我们解决.%It must be emphasized in the maternal serum prenatal screening that the quality is not only influenced by accuracy of biomarker assay,risk calculation parameters and biomarker database,but also influenced by clinical factors such as gestational weeks,weight and ect.The result of prenatal screening is just a risk evaluation,the subsequent diagnosis and the follow-up are more important.It is expected to improve screening efficiency by localization of prenatal screening database and making the quality management of the prenatal screening-diagnosis suitable for the national conditions.On the other hand,prenatal screening in the women of advanced maternal age and twin pregnancy,improve amniotic fluid cell culture method,chromosome analysis automation,the introduction and positioning of rapid prenatal molecular diagnosis techniques become the hot issues.

  20. Analysis of 1 764 pregnant women for prenatal screening%1764例孕妇孕中期产前筛查结果分析

    Institute of Scientific and Technical Information of China (English)

    范崇梅; 骆建华; 樊卫

    2013-01-01

    目的 通过检测孕妇血清甲胎蛋白(AFP)、游离β-人绒毛膜促性腺激素(β-HCG)水平进行孕中期胎儿无创伤性产前筛查.方法 采用化学发光法对1 764例孕中期孕妇进行血清AFP、fβ-HCG定量检测,计算风险值.结果 1 764例孕妇唐氏综合征(DS)、爱德华氏综合征(ES)、先天性神经管缺陷(NTD)筛查阳性率分别为3.51%(62/1 764)、0.11%(2/1 764)、2.49%(44/1 764).在不同年龄的高风险分组中,大于或等于35岁组与其他组DS筛查阳性率差异有统计学意义(P<0.05),各年龄组NTD筛查阳性率无统计学差异(P>0.05).结论 产前筛查是一种无创伤性检测手段,对避免DS、ES、NTD患儿出生有重要意义.%Objective To perform non-invasive prenatal screening at the second trimester by detectingorfetoprotein(AFP) and free β-human chorionic gonadotrophin(β-HCG).Methods AFP and fβ-HCG of 1 764 pregnant women at the second trimester were detected by chemiluminescence and the risk value was calculated.Results Positive rates of Down's syndrome(DS),Edward's syn-drome(ES) and neural tube defects(NTD) were 3.51% (62/1 764), 0.11% (2/1 764) and 2.49% (44/1 764).In different age groups,the positive rate of DS in the group of at least 35 years old was higher than other groups(P0.05).Conclusion Prenatal screening could be a non-invasive detection methods and might be helpful for reducing the birth rate of DS,ES and NTD cases.

  1. Prenatal ultrasonic screening of fetuses with trisomy 18%18-三体综合征胎儿的产前超声筛查

    Institute of Scientific and Technical Information of China (English)

    栗河舟; 王铭; 许雅娟; 吴玥丽; 雷冬梅; 刘云; 李洁; 林杉; 孟繁凌

    2012-01-01

    目的:评价18三体综合征胎儿的超声表现特征和产前超声筛查的价值.方法:对羊膜腔穿刺或脐血管穿刺确诊为18-三体综合征的27例胎儿超声声像图进行分析.结果:27例18-三体胎儿均表现为胎儿结构异常,每例胎儿可检出四项及四项以上超声异常,最常见的超声改变是心脏畸形,共25例;其它常见的异常包括重叠指17例,单脐动脉11例,小下颌10例,上消化道梗阻9例,脉络丛囊肿及桡骨发育不良或缺如各8例,草莓头7例,小脑发育不良、小脑延髓池扩大、脐膨出及腕关节异常各6例,宫内生长受限11例,羊水过多19例.结论:超声检查是产前筛查18-三体综合征胎儿的有效手段.%Objective: To evaluate the characteristics of ultrasonic manifestations and value of prenatal ultrasonic screening for fetuses with trisomy 18. Methods: The ultrasonic images of 27 fetuses diagnosed as trisomy 18 definitely by amniocentesis and needle puncture of umbilical blood vessels were analyzed. Results; All the fetuses with trisomy 18 were found with fetal structural abnormality, each fetus was found with four kinds or more than four kinds of ultrasonic abnormalities, the most common ultrasonic abnormalities were cardiac abnormalities, which were found in 25 fetuses; the other common abnormalities included abnormal fingers overlap (17 fetuses) , single umbilical artery (11 fetuses) , micrognathia (10 fetuses) , upper gastrointestinal obstruction (9 fetuses) , choroid plexus cyst ( 8 fetuses) , dysplasia or absence of radius (8 fetuses) , strawberry head (7 fetuses) , cerebellar hypopksia (6 fetuses) , dilatation of cisterna magna (6 fetuses) , omphalocele (6 fetuses) , wrist abnormalities (6 fetuses) , intrauterine growth restriction (11 fetuses) , and polyhydramnios ( 19 fetuses) . Conclusion; Ultrasonographyis an effective method for prenatal screening of fetuses with trisomy 18.

  2. High Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions.

    Directory of Open Access Journals (Sweden)

    Tianjiao Chu

    Full Text Available Our goal was to test the hypothesis that inter-individual genomic copy number variation in control samples is a confounding factor in the non-invasive prenatal detection of fetal microdeletions via the sequence-based analysis of maternal plasma DNA. The database of genomic variants (DGV was used to determine the "Genomic Variants Frequency" (GVF for each 50kb region in the human genome. Whole genome sequencing of fifteen karyotypically normal maternal plasma and six CVS DNA controls samples was performed. The coefficient of variation of relative read counts (cv.RTC for these samples was determined for each 50kb region. Maternal plasma from two pregnancies affected with a chromosome 5p microdeletion was also sequenced, and analyzed using the GCREM algorithm. We found strong correlation between high variance in read counts and GVF amongst controls. Consequently we were unable to confirm the presence of the microdeletion via sequencing of maternal plasma samples obtained from two sequential affected pregnancies. Caution should be exercised when performing NIPT for microdeletions. It is vital to develop our understanding of the factors that impact the sensitivity and specificity of these approaches. In particular, benign copy number variation amongst controls is a major confounder, and their effects should be corrected bioinformatically.

  3. Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Ozge Ozalp Yuregir

    2012-02-01

    Full Text Available Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment and molecular (DNA mutation analysis tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000: 80-94

  4. Application of high-throughput affinity-selection mass spectrometry for screening of chemical compound libraries in lead discovery.

    Science.gov (United States)

    Zehender, Hartmut; Mayr, Lorenz M

    2007-02-01

    High-throughput screening of chemical libraries for compounds that interfere with a particular molecular target is among the most powerful methodologies applied in lead discovery at present. In this review, the authors describe a label-free, homogeneous, affinity-selection-based technology developed at Novartis, termed SpeedScreen, which is compared with similar technologies used for high-throughput screening in the pharmaceutical and biotechnology industries. The focus at present of SpeedScreen is twofold: first, this technology is applied to orphan genomic targets and to those targets that are non-tractable by a functional assay; second, this technology is applied complementary to the well-established traditional methodologies for the screening of molecular targets. In summary, the authors discuss the value of affinity-selection-based high-throughput screening as a complementary technology to the common functional screening platforms and the benefits as well as the limitations of this new technology are outlined.

  5. Prenatal diagnosis of 47,XXX.

    Science.gov (United States)

    Khoury-Collado, Fady; Wehbeh, Ammar N; Fisher, Allan J; Bombard, Allan T; Weiner, Zeev

    2005-05-01

    We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

  6. 血管前置的产前超声筛查与诊断%Prenatal ultrasound screening and diagnosis of vasa previa

    Institute of Scientific and Technical Information of China (English)

    李胜利; 陈秀兰; 文华轩

    2011-01-01

    血管前置是导致围产儿死亡的一个危险因素,经阴道分娩围产儿死亡率高.超声检查是产前诊断血管前置最可靠且简便、易推广的检查方法.当产前超声检查发现低置胎盘、双叶胎盘、副胎盘、多叶胎盘、多胎妊娠、帆状胎盘等高危发病因素时,需详细检查宫颈内口,常规的检查方法是经腹超声检查,当因胎先露阻挡等原因显示宫颈内口不满意时,需结合经会阴超声检查或经阴道超声检查;经阴道超声检查是该3种检查方法中最可靠的显示方法,但合并阴道活动性出血或宫颈机能不全时不宜使用.对于产前诊断血管前置的病例,建议于临产前行选择性剖宫产术.%Vasa previa is a dangerous factor which may result in fetal demise. Vaginal delivery may lead to high fetal mortality. Ultrasound is the most reliable, simple and generalized way for diagnosis of prenatal vasa previa. If the following high risk factors are detected by prenatal ultrasound, such as low lying placenta, bi-lobed placenta, succenturiate lobe, multi-lobed placenta, multiple pregnancy and velamentous insertion of the cord, the internal cervical os is necassary for examination. Transabdominal ultrasound is the routine way to observe the internal cervical os. But if internal cervical os is not satisfied to observe internal cervical os because of fetal presentation,transperineal or transvaginal ultrasound is recommended. Transvaginal ultrasound is the most reliable way. However, it is not recommended to perform once the mother is complicated with active bleeding or cervical incompetence. Elective caesarean section should be offered prior to the onset of labour for cases that have been diagnosed of prenatal vasa previa.

  7. Lead identification for the K-Ras protein: virtual screening and combinatorial fragment-based approaches

    Directory of Open Access Journals (Sweden)

    Pathan AAK

    2016-05-01

    Full Text Available Akbar Ali Khan Pathan,1,2,* Bhavana Panthi,3,* Zahid Khan,1 Purushotham Reddy Koppula,4–6 Mohammed Saud Alanazi,1 Sachchidanand,3 Narasimha Reddy Parine,1 Mukesh Chourasia3,* 1Genome Research Chair (GRC, Department of Biochemistry, College of Science, King Saud University, 2Integrated Gulf Biosystems, Riyadh, Kingdom of Saudi Arabia; 3Department of Pharmacoinformatics, National Institute of Pharmaceutical Education and Research, Hajipur, India; 4Department of Internal Medicine, School of Medicine, 5Harry S. Truman Memorial Veterans Affairs Hospital, 6Department of Radiology, School of Medicine, Columbia, MO, USA *These authors contributed equally to this work Objective: Kirsten rat sarcoma (K-Ras protein is a member of Ras family belonging to the small guanosine triphosphatases superfamily. The members of this family share a conserved structure and biochemical properties, acting as binary molecular switches. The guanosine triphosphate-bound active K-Ras interacts with a range of effectors, resulting in the stimulation of downstream signaling pathways regulating cell proliferation, differentiation, and apoptosis. Efforts to target K-Ras have been unsuccessful until now, placing it among high-value molecules against which developing a therapy would have an enormous impact. K-Ras transduces signals when it binds to guanosine triphosphate by directly binding to downstream effector proteins, but in case of guanosine diphosphate-bound conformation, these interactions get disrupted. Methods: In the present study, we targeted the nucleotide-binding site in the “on” and “off” state conformations of the K-Ras protein to find out suitable lead compounds. A structure-based virtual screening approach has been used to screen compounds from different databases, followed by a combinatorial fragment-based approach to design the apposite lead for the K-Ras protein. Results: Interestingly, the designed compounds exhibit a binding preference for the

  8. Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

    Science.gov (United States)

    Gross, S. J.; Stosic, M.; McDonald‐McGinn, D. M.; Bassett, A. S.; Norvez, A.; Dhamankar, R.; Kobara, K.; Kirkizlar, E.; Zimmermann, B.; Wayham, N.; Babiarz, J. E.; Ryan, A.; Jinnett, K. N.; Demko, Z.

    2016-01-01

    ABSTRACT Objectives To evaluate the performance of a single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow‐up and review patient choices for women with high‐risk results. Methods In this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a SNP‐based NIPT and subsequently evaluated. Follow‐up was conducted for all cases with a high‐risk result. Results Ninety‐five cases were reported as high risk for fetal 22q11.2 deletion. Diagnostic testing results were available for 61 (64.2%) cases, which confirmed 11 (18.0%) true positives and identified 50 (82.0%) false positives, resulting in a positive predictive value (PPV) of 18.0%. Information regarding invasive testing was available for 84 (88.4%) high‐risk cases: 57.1% (48/84) had invasive testing and 42.9% (36/84) did not. Ultrasound anomalies were present in 81.8% of true‐positive and 18.0% of false‐positive cases. Two additional cases were high risk for a maternal 22q11.2 deletion; one was confirmed by diagnostic testing and one had a positive family history. There were three pregnancy terminations related to screening results of 22q11.2 deletion, two of which were confirmed as true positive by invasive testing. Conclusions Clinical experience with this SNP‐based non‐invasive screening test for 22q11.2 deletion syndrome indicates that these deletions have a frequency of approximately 1 in 1000 in the referral population with most identifiable through this test. Use of this screening method requires the availability of counseling and other management resources for high‐risk pregnancies. © 2015 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd. on behalf of the International Society of Ultrasound in Obstetrics and Gynecology. PMID:26396068

  9. Physicochemical Profiles of the Marketed Agrochemicals and Clues for Agrochemical Lead Discovery and Screening Library Development.

    Science.gov (United States)

    Rao, Hanbing; Huangfu, Changxin; Wang, Yanying; Wang, Xianxiang; Tang, Tiansheng; Zeng, Xianyin; Li, Zerong; Chen, Yuzong

    2015-05-01

    Combinatorial chemistry, high-throughput and virtual screening technologies have been extensively used for discovering agrochemical leads from chemical libraries. The knowledge of the physicochemical properties of the marketed agrochemicals is useful for guiding the design and selection of such libraries. Since the earlier profiling of marketed agrochemicals, the number and types of marketed agrochemicals have significantly increased. Recent studies have shown the change of some physicochemical properties of oral drugs with time. There is a need to also profile the physicochemical properties of the marketed agrochemicals. In this work, we analyzed the key physicochemical properties of 1751 marketed agrochemicals in comparison with the previously-analyzed herbicides and insecticides, 106 391 natural products and 57 548 diverse synthetic libraries compounds. Our study revealed the distribution profiles and evolution trend of different types of agrochemicals that in many respects are broadly similar to the reported profiles for oral drugs, with the most marked difference being that agrochemicals have a lower number of hydrogen bond donors. The derived distribution patterns provided the rule of thumb guidelines for selecting potential agrochemical leads and also provided clues for further improving the libraries for agrochemical lead discovery.

  10. 中国女性对于FMR1突变产前筛查的态度调查%Acceptance of prenatal screening for FMR1 mutation in Chinese female population

    Institute of Scientific and Technical Information of China (English)

    张岚; 章远志

    2012-01-01

    Objective Study the attitude of Chinese female population on prenatal screening of FXS in order to investigate the feasibility of offering prenatal screening.Methods Two hundred and eighty four women with no family history of mental retardation or FXS were recruited in the study.They were grouped into:females married with child (ren) (67/284),females married without child (54/284),unmarried single women (163/284).Then the participants were tested whether they retained the basic genetic knowledge of fragile X by using the adapted questionnaire.Results The proportions of the women who preferred to have prenatal screening for FXS in each group were 77.6%,66.7% and 74.9%.Further more,95.5% of the women in the first female group would like to terminate the pregnancy if a positive result of FXS was reported,so did 92.6% of the women in the second female group and 90.2% of women in the third female group.Conclusion There is a big acceptance of prenatal screening for FMR1 mutation in Chinese female population.Most people would like to take prenatal screening of fragile X syndrome.%目的 调查中国女性对于脆性X综合征产前筛查的态度.方法 随机调查284位没有智力发育障碍及脆性X综合征家族史的女性,分为已婚已育(67/284)、已婚未育(54/284)及未婚未育(163/284)三组.结果 各组愿意接受产前筛查的比率分别为77.6%、66.7%及74.9%.而各组选择在得知产前筛查结果阳性时愿意终止妊娠的比率分别为95.5%、92.6%及90.2%.结论 在中国女性群体中对FMR1基因突变进行产前筛查有较高的接受度.大多数人选择接受针对脆X综合征的产前筛查.

  11. Lead

    Science.gov (United States)

    ... found? Who is at risk? What are the health effects of lead? Get educational material about lead Get certified as a Lead Abatement Worker, or other abatement discipline Lead in drinking water Lead air pollution Test your child Check and maintain your home ...

  12. Application of early prenatal systemic ultrasound screening in diagnosis of fetal deformity%早孕期超声筛查在胎儿结构畸形诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    霍晓恺; 刘泰石; 解耀锃

    2016-01-01

    Objective To explore the clinical value of early prenatal systemic ultrasound screening in diagnosis of fetal deformity.Methods Sixty-four pregnant women who accepted prenatal ultrasound examination during 11 to 13 +6 gestational weeks in the Second People ’ s Hospital of Liaocheng City from May 2013 to May 2015 were selected to do the early prenatal ultrasound screening.Medium-term prenatal ultrasound was done among the cases of 22 -24 +6 weeks of pregnancy (continuous scan method), and the final results were tracked. Results The fetus deformity detection rates of early prenatal ultrasound screening and medium-term prenatal ultrasound in both groups were not obviously different (χ2 =1.03,P>1.03).Compared to the detection rates of single early prenatal ultrasound screening or single medium-term prenatal ultrasound, the deformity rate in the joint early prenatal ultrasound and medium-term prenatal ultrasound showed significant difference (χ2 =4.53,P<0.05; χ2 =5.39, P<0.05).There were 36 types of fetal structural deformity detected in early prenatal ultrasound.The top three were as follows: cervical cystic carcinoma and NT thickening ( 33.33%) , facial abnormality (25.00%), and anterior abdominal wall abnormality (11.11%).There were 42 types of fetal structural deformity detected in medium-term prenatal ultrasound.The top three were as follows: cardiovascular abnormalities (30.95%), facial abnormalities (21.43%), and central nervous system abnormalities (11.11%).In the results of systemic ultrasound screening in early and medium-term pregnancy, the distribution rates of all kinds of structural deformity were significantly different (χ2 value ranged 4.55 to 6.32, all P<0.05).Conclusion The detection rate of fetal structural deformity is higher in early prenatal systemic ultrasound screening which, however, cannot completely replace the medium-term ultrasound.The joint examination of early and medium-term prenatal ultrasound is suggested to improve the detection

  13. Control Prenatal

    National Research Council Canada - National Science Library

    P. Susana Aguilera, DRA; M.D. Peter Soothill, MR

    2014-01-01

    Los principales objetivos del control prenatal son identificar aquellos pacientes de mayor riesgo, con el fin de realizar intervenciones en forma oportuna que permitan prevenir dichos riesgos y así...

  14. The Dianosis Value of Prenatal Ultrasound Screening Combined with Prenatal Maternal Serum Markers Detecting in Trimester Pregnancy for the 21 - trisomy Syndrome%中孕B超产前检查联合母血清标记物对21-三体综合征的临床诊断价值

    Institute of Scientific and Technical Information of China (English)

    李洁; 陈大雁; 胡桂朗; 荆志敏

    2011-01-01

    Objective: To explore the feasibility, effectiveness and necessity of the prenatal ultrasound screenings,combined with the content inspection of the mothers' prenatal maternal serum markers:in trimester pregnancy Alpha-fetoprotein ( AFP), free estriol ( uE3 ), total serum β human chorionic gonadotropin ( hCG) in the 21 -trisomy syndrome. Method: We summarized the detection rate of the 21 -trisomy syndrome by prenatal ultrasound screening and the prenatal maternal serum markers. Result: The detection rate in terms of the positive signs of the prenatal ultrasound screening in trimester pregnancy combined with the prenatal maternal serum markers in the 21-trisomy syndrome diagnosis was 80%-90%. Conclusion:The prenatal ultrasound screening in trimester pregnancy combined with prenatal maternal serum markers in the 21trisomy syndrome diagnosis is a non-invasive checking method, not only can reduce the abnormal or deformed children are born, can also reduce the invasive inspection; It has the davantage of clinically simple,application and testing of a wide range of safe and effective, cost-effective, with higher screening detection rate, and reduce the intrusion caused by the check normal fetal abortion rate.%目的:探讨中孕B超产前检查出现阳性征,及联合母体血清标记物指标:甲胎蛋白(AFP)、游离雌三醇(uE3)、血清总β绒毛膜促性腺激素(hCG)的含量检查对21-三体综合征的产前筛查和诊断的可行性、有效性和必要性.方法:回顾了中孕B超产前检查联合母血清标记物对21-三体综合征检出率.结果:中孕B超产前检查的阳性征,联合母体血清标记物检查指标对21三体综合征检出率高达80%-90%.结论:中孕超声检查,及联合母血清标记物进行唐氏综合征胎儿筛查是一种非侵入性的检查方法,不但可以减少异常或畸型儿童出生,提高人口素质,也可以减少侵入性的检查;且具有临床操作简便、应用范围和检验范围面广

  15. 助产士主导模式在产前照护中的发展现状及展望%Development status quo and prospect of midwives leading mode in prenatal care

    Institute of Scientific and Technical Information of China (English)

    邱嵘; 周倩; 杨湘妹

    2016-01-01

    It summarized the status quo of developing prenatal care model both at home and abroad,it empha-sized to review the advantages,influencing factors of implementations and effect of prenatal care in the midwives leading model.Previous research focus on how to provide perinatal continuity of midwifery service model,but lack of research on prenatal care model for midwives.The mode of prenatal care for midwives has remarkable advantages in improving health status of pregnant women and birth outcomes,and all pregnant women should enjoy individual,continuous prenatal care provided by professional midwives.It is proposed that setting up the obstetric service guide and establishing the system of emergency plan to deal with the process.%综述国内外产前照护模式开展现状,着重回顾助产士主导模式下的产前照护的优势、具体实施及效果影响因素。现有研究多集中在如何提供围生期连续性助产服务模式上,缺乏针对助产士主导的产前照护模式的研究。助产士主导的产前照护模式在改善孕妇健康状态及分娩结局方面有显著优势,所有孕妇均应享受由专业助产士提供的个体化、连续性产前照护。提出应制定产科服务指南及建立系统的紧急预案处理流程。

  16. Video recording to improve the quality of prenatal genetic counselling.

    NARCIS (Netherlands)

    Spelten, E.; Gitsels, J.; Pereboom, M.; Martin, L.; Hutton, E.; Dulmen, S. van

    2012-01-01

    OBJECTIVES: Counselling on prenatal testing has become an increasing part of obstetric care in the Netherlands. The majority of Dutch women (>70%) are counselled by midwives on prenatal testing (Wiegers and Hingstman, 2008). Prenatal screening on congenital abnormalities is not routinely done and pr

  17. 台州地区202677例孕中期产前筛查及随访结果分析%Prenatal screening in Taizhou area

    Institute of Scientific and Technical Information of China (English)

    干灵红; 许惠惠; 章鸯; 伍霞芳; 刘佳媚; 石卫武

    2013-01-01

    目的:探讨孕中期二联法产前筛查对胎儿出生缺陷监测的作用,并了解浙江省台州地区孕中期孕妇唐氏综合征(DS)、18-三体综合征、神经管缺陷(NTD)及其他缺陷发生率.方法:采用时间分辨免疫荧光分析法检测202677例孕中期孕妇血清标志物甲胎蛋白(AFP)和人绒毛膜促性腺激素(游离β-hCG),通过Multicalc和Risks2T风险评估软件进行风险评估.采用产前羊膜腔染色体检查以及诊断性B超进行确诊,并追踪妊娠结局.结果:202677例孕妇中,筛查出高风险孕妇7746例,阳性率3.82%.高风险孕妇中确诊DS66例、18-三体23例、NTD62例和其他染色体异常89例.低风险孕妇中随访到DS漏检18例,18-三体漏检2例和其他染色体异常5例和其他出生缺陷54例.两组比较差异有统计学意义(P<0.01).结论:产前筛查和诊断是降低出生缺陷率的有效措施,加强随访能够更好的指导优生工作.%Objective:To evaluate the effectiveness of duplex process prenatal screening in detecting the fetus's chro-mosomal abnormalities and neural tube defect at midterm pregnancy.Methods:A total of 202677 mid-pregnant women were tested for the concentrations of serum AFP and free-β HCG with time-resolved immunofluorescence technique.Final diagnosis was confirmed by 3D-ultrasound and chromosome examination of amniotic fluid cell or allantoic venous blood cells.The diagnostic results were compared with the follow-up outcome of the pregnancies.Results:Seven thousand,seven hundred and forty-six mid-pregnant women were classified as a high risk group,from which 66 babies were born with disease of DS,23 with Edwards syndrome,sixty-two cases with neural tube defect (NTD) and eighty-nine cases with other chromosomal abnormalities,respectively.Only 18 babies with disease of DS,two cases with Edwards syndrome,five cases with other chromosomal abnormalities and 54 cases with other defects were found from low risk pregnant women.Conclusion:Prenatal

  18. Small molecule screening in zebrafish: an in vivo approach to identifying new chemical tools and drug leads

    Directory of Open Access Journals (Sweden)

    Patton E Elizabeth

    2010-06-01

    Full Text Available Abstract In the past two decades, zebrafish genetic screens have identified a wealth of mutations that have been essential to the understanding of development and disease biology. More recently, chemical screens in zebrafish have identified small molecules that can modulate specific developmental and behavioural processes. Zebrafish are a unique vertebrate system in which to study chemical genetic systems, identify drug leads, and explore new applications for known drugs. Here, we discuss some of the advantages of using zebrafish in chemical biology, and describe some important and creative examples of small molecule screening, drug discovery and target identification.

  19. Targeting acetylcholinesterase: identification of chemical leads by high throughput screening, structure determination and molecular modeling.

    Directory of Open Access Journals (Sweden)

    Lotta Berg

    Full Text Available Acetylcholinesterase (AChE is an essential enzyme that terminates cholinergic transmission by rapid hydrolysis of the neurotransmitter acetylcholine. Compounds inhibiting this enzyme can be used (inter alia to treat cholinergic deficiencies (e.g. in Alzheimer's disease, but may also act as dangerous toxins (e.g. nerve agents such as sarin. Treatment of nerve agent poisoning involves use of antidotes, small molecules capable of reactivating AChE. We have screened a collection of organic molecules to assess their ability to inhibit the enzymatic activity of AChE, aiming to find lead compounds for further optimization leading to drugs with increased efficacy and/or decreased side effects. 124 inhibitors were discovered, with considerable chemical diversity regarding size, polarity, flexibility and charge distribution. An extensive structure determination campaign resulted in a set of crystal structures of protein-ligand complexes. Overall, the ligands have substantial interactions with the peripheral anionic site of AChE, and the majority form additional interactions with the catalytic site (CAS. Reproduction of the bioactive conformation of six of the ligands using molecular docking simulations required modification of the default parameter settings of the docking software. The results show that docking-assisted structure-based design of AChE inhibitors is challenging and requires crystallographic support to obtain reliable results, at least with currently available software. The complex formed between C5685 and Mus musculus AChE (C5685•mAChE is a representative structure for the general binding mode of the determined structures. The CAS binding part of C5685 could not be structurally determined due to a disordered electron density map and the developed docking protocol was used to predict the binding modes of this part of the molecule. We believe that chemical modifications of our discovered inhibitors, biochemical and biophysical

  20. Lead Screening for Chronic Obstructive Pulmonary Disease of IKK2 Inhibited by Traditional Chinese Medicine

    Directory of Open Access Journals (Sweden)

    Yung-An Tsou

    2014-01-01

    Full Text Available Chronic obstructive pulmonary disease (COPD is a chronic obstructive lung disease and is frequently found in well-developed countries due to the issue of aging populations. Not all forms of medical treatment are unable to return a patient's limited pulmonary function back to normal and eventually they could require a lung transplant. At this time, COPD is the leading cause of death in the world. Studies surveying I-kappa-B-kinase beta (IKK2 are very relevant to the occurrence and deterioration of the condition COPD. The sinapic acid-4-O-sulfate, kaempferol, and alpha-terpineol were found to be IKK2 inhibitors and helped prevent COPD occurrence and worsening according to a screening of the traditional Chinese medicine (TCM database. The protein-ligand interaction of these three compounds with regard to IKK2 was also done by molecular dynamics. The docking poses, hydrogen bond variation, and hydrophobic interactions found Asp103 and Lys106 are crucial to IKK2 binding areas for IKK2 inhibition. Finally, we found the three compounds that have an equally strong effect in terms of IKK2 binding proven by the TCM database and perhaps these may be an alternative treatment for COPD in the future.

  1. Human prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Filkins, K.; Russo, R.J.

    1985-01-01

    The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis.

  2. 血清学结合超声检查在非整倍体产前筛查中的应用%Application of serologic examination combined with ultrasonography in prenatal screening of aneuploidy

    Institute of Scientific and Technical Information of China (English)

    吴清明; 周瑾; 刘伟; 王瑞; 杨柳

    2011-01-01

    Objective: To explore the application values of serologic examination combined with ultrasonography in prenatal screening of fetal aneuploidy. Methods: Maternal serologic triple examination ( AFP, Free β - hCG and uE3 ) during the second trimester of pregnancy combined with fetal systematical ultrasonography was used for prenatal screening of fetal chromosomal aneuploidy among 1 831 pregnant women of 16 ~ 25 gestational weeks, the pregnant women with high risk of prenatal screening received chromosomal karyotype analysis of amniotic cells. Results: Among 1 831 pregnant women, 107 high risk cases were screened out, including 98 high risk cases of serologic screening, 9 cases with abnormal fetuses detected by ultrasonography, 2 cases diagnosed as Down's syndrome and 2 cases diagnosed as trisomy 18 definitely by chromosomal analysis of amniotic cells. Conclusion: The prenatal screening programme of serologic triple examination during the second trimester of pregnancy combined with fetal systematical ultrasonography can expand the coverage extent of screening objects, reduce misdiagnosis and missed diagnosis, increase the detection rate of fetal chromosomal aneuploidy effectively, which is a simple, minimally invasive and effective prenatal screening protocol.%目的:探讨血清学结合超声在胎儿非整倍体产前筛查中的应用价值.方法:采用孕中期孕母血清学三联(AFP、Freeβ-hCG、uE3)检测结介胎儿系统超声检查,对1 831例孕16~25周孕妇进行胎儿非整倍体染色体病产前筛查,对筛查高风险孕妇,进行羊水细胞染色体核型分析.结果:1 831例孕妇中筛查出高危孕妇107例,其中血清学筛查高危孕妇98例,超声检查胎儿异常9例,经羊水细胞染色体分析产前诊断确诊唐氏综合征2例、18-三体综合征2例.结论:孕中期血清三联筛查结合胎儿系统超声检查的产前筛查方案,可扩大筛查目标的涵盖范围,减少漏诊及误诊;有效提高胎儿非整

  3. An Analysis on the Relationship Between Prenatal Screening Results and Age, Body Weight, Gestational Weeks%简析产前筛查结果和年龄、体质量及孕周的关系

    Institute of Scientific and Technical Information of China (English)

    王子桂

    2015-01-01

    目的:研究产前筛查结果与年龄、体质量和孕周的关系。方法选取1800例孕妇进行研究,利用风险评估软件系统检测孕妇是否存在高风险。结果唐氏综合征风险值和爱德华氏综合征风险值与年龄和体质量有关,开放性神经管缺陷(OSB)风险值与体质量和孕周有关。结论在产前筛查时需避免相关影响因素,保证筛查准确性。%Objective To study the relationship between prenatal screening results and age, body weight, gestational weeks.Methods1800 pregnant women were selected, and determined whether have high risk using the software system of risk assessment.Results Risk value of Down's syndrome and Edward's syndrome were related to age and body mass, the risk value of open neural tube defects (OSB) was associated with body mass and pregnant weeks.Conclusion It is need to avoid related factors in prenatal screening so as to ensure the accuracy of screening.

  4. Prenatal Care.

    Science.gov (United States)

    Health Resources and Services Administration (DHHS/PHS), Rockville, MD. Office for Maternal and Child Health Services.

    This booklet is the first in a series of publications designed to provide parents with useful information about childrearing. Contents are organized into three parts. Part I focuses on the pregnancy, prenatal care, development of the baby, pregnant lifestyles, nutrition, common discomforts, and problems of pregnancy. Part II provides information…

  5. Lead

    Science.gov (United States)

    ... Chapter 6 Chapter 7 Chapter 8 Chapter 9 Appendix I Appendix II Tables Figures State Programs Alabama Alaska Arizona ... Tool Kit Resources Healthy Homes and Lead Poisoning Prevention Training Center (HHLPPTC) Training Tracks File Formats Help: ...

  6. Correlation analysis of 1206 cases of birth defects in prenatal screening and diagnosis%1206例出生缺陷产前筛查及产前诊断的相关情况分析

    Institute of Scientific and Technical Information of China (English)

    李东海

    2012-01-01

    OBJECTIVE To know the prenatal screening and diagnosis for maternal and infant health care sector, to provide reference for establishing corresponding prevention countermeasures. METHODS Selected a total of 1 206 infants with birth defect during the years of 2008-2011 in our hospital, retrospectively analyzed the prenatal screening and prenatal diagnosis results of birth defects, comparatively analyzed the ratio in different regions without prenatal screening. RESULTS The positive cases in antenatal screening accounted for 33.4% (403/1 206), positive in prenatal diagnosis accounted for 28.8% (347/ 1 206) , without prenatal screening accounted for 9.8% (118/1 206). Interim malformations induced accounted for 25.2% (304/1 206). The first 5 causes of prenatal diagnosis of defect were as follows: neural tube defects, congenital heart disease, cleft lip, chromosomal abnormalities and strephenopodia. The first 5 causes of defect was total 295 cases, proportion of 85.1%, which were as follows; 364 cases with congenital heart disease (53.1%) , ear deformity in 79 cases (11.5%) , cleft lip in 75 cases (10.9%), cryptorchidism in 62 cases (9.1%) , polydactyly in 49 patients (7.2%). The constituent ratio that without prenatal screening (1.4%) in towns was significant lower than in countries (15.4%) (P < 0.05). CONCLUSION In order to reduce the incidence of birth defects, it should strengthen exploration on limbs and features of five sense organs in prenatal screening and diagnosis, can not only concern about the value of screening, and ignore the importance of antenatal diagnosis.%目的 为了解本地区产前筛查及产前诊断状况,给妇婴保健部门制定相应的预防对策提供参考.方法 选择2008 ~2011年期间某院分娩的出生缺陷儿,共计1206例,回顾分析出出生缺陷儿产前筛查与产前诊断结果,对照分析不同区域未进行产前筛查者构成比.结果 产前筛查阳性者占33.4% (403/1206),产前诊断阳性者占28.8

  7. Correlation study of prenatal ultrasound screening system and fetal chromosomal abnormalities%产前系统超声筛查与胎儿染色体异常的相关性研究

    Institute of Scientific and Technical Information of China (English)

    刘智霞

    2015-01-01

    Objective To investigate the correlation of prenatal ultrasound screening system with fetal chromosom-al abnormalities.Methods From July 2013 to July 2014, 115 cases of prenatal ultrasound screening system abnormal sit-uation were selected , invasive prenatal testing was given and chromosome karyotype was analyzed , correlation of ultrasound abnormalities with chromosomal abnormalities were analyzed .Results One hundred and fifteen cases of maternal abnormal ultrasound underwent amniocentesis or umbilical vein by karyotype analysis , chromosomal abnormalities in 28 cases were detecleal among 81 cases of severe abnormal maternal ultrasound , 4 cases of minor cases did not appear abnormal chromo-somal abnormalities, there were significant differences in the incidence of abnormalities of the two groups (P<0.05), the incidence of chromosomal abnormalities reached 45.95% when the fetal congenital heart disease with cardiac malforma-tions.Conclusions Prenatal ultrasound screening system can be found most of the abnormal development of the fetus , which provides a reliable basis for further invasive diagnostic line .%目的 探讨产前系统超声筛查与胎儿染色体异常的相关性. 方法 选择2013年7月至2014年7月行产前系统超声筛查出现异常情况的中晚孕期产妇115例,经产妇同意与产前咨询后,予以侵入性的产前检查并分析染色体的核型,分析超声异常表现与染色体异常的相关性. 结果 115例超声检查出现异常的产妇均接受脐静脉或羊水穿刺,经染色体核型的分析,81例超声检查严重异常产妇检出染色体异常28例,4例微小异常病例未出现染色体异常,两组染色体异常发病率比较差异有统计学意义(P<0.05),当胎儿先心病合并心外畸形时染色体异常发病率达到45.95%. 结论 产前系统超声筛查能发现大部分的胎儿异常发育,从而为进一步行侵入性诊断提供可靠依据.

  8. Lead-Time Models Should Not Be Used to Estimate Overdiagnosis in Cancer Screening

    DEFF Research Database (Denmark)

    Zahl, Per-Henrik; Jørgensen, Karsten Juhl; Gøtzsche, Peter C

    2014-01-01

    Lead-time can mean two different things: Clinical lead-time is the lead-time for clinically relevant tumors; that is, those that are not overdiagnosed. Model-based lead-time is a theoretical construct where the time when the tumor would have caused symptoms is not limited by the person's death. I...

  9. 产前超声筛查胎儿先天性心脏病的临床价值分析%Analysis on clinical value of prenatal ultrasonography in screening of fetal congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    朱胜; 刘武岩; 曹晔

    2011-01-01

    目的 探讨胎儿超声心动图(FECG)产前筛查胎儿先天性心脏病(CHD)的临床应用价值.方法 采用四腔心、左室流出道、右室流出道、三血管切面四切面法,对6 500例孕20 ~41周孕妇进行产前FECG筛查,以引产后尸解或产后新生儿ECG作为对照标准.结果 6 500例胎儿中,检出胎儿心脏异常69例,包括复杂性先天心脏病部分合并心外畸形39例.结论 四切面检查方法简便可靠,是显示胎儿心脏结构及产前筛查胎儿CHD的重要影像诊断方法.%Objective To analyze the clinical application value of fetal echocardiography ( FECC) in screening of fetal congenital heart disease ( CHD). Methods Prenatal fetal echocardiography screening were performed in 6500 pregnant women ( at 20 ~ 41 weeks of gestation) by four chamber view, left ventricular outflow tract, right ventricular outflow tract and three vessels methods. The result of fetus autopsy from induced abortion or neonatal echocardiography was the control criterion. Results In all 6500 fetus, 69 cases of cardiac abnormalities were confirmed by screening, including 39 cases of complex congenital heart diseases, partial cases combined with extracardiac abnormality. Conclusion The four chamber view is a simple and effective method to detect the fetal cardiac structure which has important imaging diagnostic value for prenatal fetal congenital heart disease screening.

  10. The Value of Down Syndrome Screening Combined with Four Dimensional Colour Doppler Ultrasound in Prenatal Diagnosis%唐氏筛查联合四维彩超在产前诊断中的价值

    Institute of Scientific and Technical Information of China (English)

    邓玲; 汤辉; 黎兴盛; 郭平

    2015-01-01

    Objective:To explore the application value of Down syndrome screening combined with four dimensional colour doppler ultrasound in prenatal diagnosis.Method:From January 2011 to December 2014, 2578 cases of pregnant women for 14 to 24 weeks were selected in maternity clinics in our hospital,they were examined by Down syndrome screening and four dimensional colour doppler ultrasound.Result:2578 cases of pregnant women were all examined by Down syndrome screening and four dimensional colour doppler ultrasound. Positive rate of Down syndrome screening was 4.84%,positive rate of was four dimensional colour doppler ultrasound was 0.96%,positive rate of combined examination was 5.81%, positive rate between Down syndrome screening and combined examination had no statistical significance (P>0.05),positive rate between four dimensional colour doppler ultrasound and combined examination had statistical significance(P0.05),与四维彩超筛查比较差异有统计学意义(P<0.05).结论:唐氏筛查联合四维彩超在产前筛查中的意义重大,可提高唐氏儿和其他染色体病儿及各种畸形的诊断率,及时做出判断是否终止妊娠,为家庭和社会减轻了沉重的负担.

  11. Improving the hit-to-lead process: data-driven assessment of drug-like and lead-like screening hits.

    Science.gov (United States)

    Wunberg, Tobias; Hendrix, Martin; Hillisch, Alexander; Lobell, Mario; Meier, Heinrich; Schmeck, Carsten; Wild, Hanno; Hinzen, Berthold

    2006-02-01

    Drug-like and lead-like hits derived from HTS campaigns provide good starting points for lead optimization. However, too strong emphasis on potency as hit-selection parameter might hamper the success of such projects. A detailed absorption, distribution, metabolism, excretion and toxicology (ADME-Tox) profiling is needed to help identify hits with a minimum number of (known) liabilities. This is particularly true for drug-like hits. Herein, we describe how to break down large numbers of screening hits and we provide a comprehensive overview of the strengths and weaknesses for each structural class. The overall profile (e.g. ligand efficiency, selectivity and ADME-Tox) is the distinctive feature that will define the priority for follow-up.

  12. Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment

    NARCIS (Netherlands)

    Beulen, L.; Grutters, J.P.C.; Faas, B.H.W.; Feenstra, I.; Groenewoud, H.; Vugt, J.M.G. van; Bekker, M.N.

    2015-01-01

    OBJECTIVE: This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test characteristics. METHOD: A discrete choice experiment was developed to assess preferences for prenatal tests that differed in seven attributes: minimal

  13. Screening for cardiovascular safety: a structure-activity approach for guiding lead selection of melanin concentrating hormone receptor 1 antagonists.

    Science.gov (United States)

    Kym, Philip R; Souers, Andrew J; Campbell, Thomas J; Lynch, John K; Judd, Andrew S; Iyengar, Rajesh; Vasudevan, Anil; Gao, Ju; Freeman, Jennifer C; Wodka, Dariusz; Mulhern, Mathew; Zhao, Gang; Wagaw, Seble H; Napier, James J; Brodjian, Sevan; Dayton, Brian D; Reilly, Regina M; Segreti, Jason A; Fryer, Ryan M; Preusser, Lee C; Reinhart, Glenn A; Hernandez, Lisa; Marsh, Kennan C; Sham, Hing L; Collins, Christine A; Polakowski, James S

    2006-04-06

    An inactin-anesthetized rat cardiovascular (CV) assay was employed in a screening mode to triage multiple classes of melanin-concentrating hormone receptor 1 (MCHr1) antagonists. Lead identification was based on a compound profile producing high drug concentration in both plasma (>40 microM) and brain (>20 microg/g) with optimization activities on multiple classes of MCHr1 antagonists were terminated. After providing evidence that the cardiovascular liabilities were not a function of MCHr1 antagonism, continued screening identified the chromone-substituted aminopiperidine amides as a class of MCHr1 antagonists that demonstrated a safe cardiovascular profile at high drug concentrations in both plasma and brain. The high incidence of adverse cardiovascular effects associated with an array of MCHr1 antagonists of significant chemical diversity, combined with the stringent safety requirements for antiobesity drugs, highlight the importance of incorporating cardiovascular safety assessment early in the lead selection process.

  14. 8020例孕中期母血清产前筛查结果回顾性分析%Rusults retrospective analysis of maternal serum prenatal screening in the second trimester

    Institute of Scientific and Technical Information of China (English)

    江德洋; 韩保良; 李晓君

    2013-01-01

    目的 为了解六安市21-三体综合征(唐氏综合征)、18-三体综合征(爱德华氏综合征)及NTD(神经管畸形)的发病率,旨在促进六安市产前筛查工作的更好开展.方法 采用时间分辨荧光免疫分析法(DELFIA)对全市2008年1月至2012年4月在我院产前门诊8020例孕妇进行产前筛查.结果 8020例孕妇中21-三体综合征高风险213例,高风险率1/38、18-三体综合征高风险43例,高风险率1/187;NTD高风险64例,高风险率1/125,确诊NTD1例.结论 结果表明六安市对产前筛查预防工作有成效,进一步开展产前筛查工作;扩大筛查覆盖率,对实施出生缺陷干预工程,提高出生人口素质有重大意义.%Objective:To understand the prevalence rate of trisomy 21 syndrome (Down syndrome), trisomy 18 syndrome (Edward's syndrome) and NTD (Neural tube defects) in Lu'an city, aim to promote the prenatal screening. Methods; Carrying out prenatal screening or 8020 outpatient antenatal pregnant women in Jin'an District Maternal and Child Health Hospital from January 2008to April 2012 by time -resolved fluorescence immunoassay (TRFIA). Results; Cases with high risk of trisomy 21 syndrome, trisomy 18 syndrome, NTD64 is 213, 43 and 64, with the rate of 1/ 38, 1/ 187 and 1/ 125, 1 NTD case was confirmed. Conclusion; the results showed the effectiveness of the prenatal screening in Lu'an city on of. We should do further to expand screening coverage, which is benefit for the implementation of birth defect intervention project, and for improving the population quality.

  15. Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease.

    Science.gov (United States)

    Zheng, Wei; Padia, Janak; Urban, Daniel J; Jadhav, Ajit; Goker-Alpan, Ozlem; Simeonov, Anton; Goldin, Ehud; Auld, Douglas; LaMarca, Mary E; Inglese, James; Austin, Christopher P; Sidransky, Ellen

    2007-08-01

    Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the glucocerebrosidase gene. Missense mutations result in reduced enzyme activity that may be due to misfolding, raising the possibility of small-molecule chaperone correction of the defect. Screening large compound libraries by quantitative high-throughput screening (qHTS) provides comprehensive information on the potency, efficacy, and structure-activity relationships (SAR) of active compounds directly from the primary screen, facilitating identification of leads for medicinal chemistry optimization. We used qHTS to rapidly identify three structural series of potent, selective, nonsugar glucocerebrosidase inhibitors. The three structural classes had excellent potencies and efficacies and, importantly, high selectivity against closely related hydrolases. Preliminary SAR data were used to select compounds with high activity in both enzyme and cell-based assays. Compounds from two of these structural series increased N370S mutant glucocerebrosidase activity by 40-90% in patient cell lines and enhanced lysosomal colocalization, indicating chaperone activity. These small molecules have potential as leads for chaperone therapy for Gaucher disease, and this paradigm promises to accelerate the development of leads for other rare genetic disorders.

  16. Learning and context of use for small-screen leading displays on visual performance in a Chinese sample.

    Science.gov (United States)

    Chien, Yu-Hung

    2009-04-01

    Leading displays represent mechanisms for exhibiting temporal instead of spatial information to overcome the limited display space of mobile devices. Prior studies focused only on information presented but disregarded the influence of context of use and learnability. In this study, 12 Chinese-speaking college students were presented a small-screen mobile device that simultaneously showed 100 Chinese characters and a 30-character leading display. Analyzed were presentation rate (250, 350, and 450 characters per minute), presentation mode (character-by-character or word-by-word), and learning (5 practice sessions) by instructing the subjects to perform a static information search task to identify the location of target characters on the screen and through an evaluation of reading comprehension for the text presented in the leading display. There was no significant change in performance over the 5 days of practice, but the rate of presentation and word-by-word presentation significantly affected reading comprehension. Results indicated that none of the leading-display factors distracted subjects from the static information-search task, but they were influenced by comprehension of the leading-display content.

  17. Comparison of different strategies in prenatal screening for Down's syndrome%三种产前筛查方法的对比研究

    Institute of Scientific and Technical Information of China (English)

    唐华; 王华; 周莹; 唐汪澜; 谢琼

    2011-01-01

    Objective: To assess and compare the effectiveness of three different strategies for prenatal screening for Down's syndrome (the first trimester test, the second trimester test, and the integrated test) and to determine the most useful way for Down's syndrome screening. Methods: serum PAPP - A and free β - HCG levels of 7802 pregnant women with 9 ~ 13 +6 weeks and serum AFP and free β -HCG and free uE3 levels of 11 911 pregnant women with 15 ~ 20+6 weeks were detected by time -distinguished fluorescence immunoassay. Down's syndrome risk value was calculated with lifecycle 3.0 software, with cut -off value of 1:270. The pregnant women whose value bigger than 1:270 would be as high risk of Down's syndrome and needed to have the cordocentesis for fetal karyotype. Results: 19 713 pregrant women accepted the Down's syndrome screening, 1059 of which were detected positive for Down's syndrome with false positive rate of 5.37% (1059/19713). 607 cases received fetal karyotype, accotmting for 57.32% (607/1059), detecting abnormal fetal chromosome in 24 cases with detecing rate 3.95% (24/607), including 4 cases of Down's syndrome and 3 cases of 18 - trisome. Beside this, 5 neural tube defects cases were found in the second trimester test. 1 case of Down's syndrome was confirmed after birth. The three different strategies' (the first trimester test, the second trimester test, and the integrated test) false positive rate were: 5.79%, 5. 10%, 4. 04%. Conclusion: The integrated test was better than the first trimester test and the second trimester test.%目的 探讨孕早期、中期和整合筛查对唐氏综合征筛查对检出胎儿染色体异常和妊娠不良结局的实用价值.方法 应用时间分辨荧光免疫法对7802例孕9周~13+6周和11911例孕15周~20+6周妇女进行血清标记物妊娠相关蛋白(PAPP-A)和游离B绒毛膜促性腺激素(free β-HCG)或甲胎蛋白(AFP)、游离B绒毛膜促性腺激素(free

  18. Corifungin, a new drug lead against Naegleria, identified from a high-throughput screen.

    Science.gov (United States)

    Debnath, Anjan; Tunac, Josefino B; Galindo-Gómez, Silvia; Silva-Olivares, Angélica; Shibayama, Mineko; McKerrow, James H

    2012-11-01

    Primary amebic meningoencephalitis (PAM) is a rapidly fatal infection caused by the free-living ameba Naegleria fowleri. The drug of choice in treating PAM is the antifungal antibiotic amphotericin B, but its use is associated with severe adverse effects. Moreover, few patients treated with amphotericin B have survived PAM. Therefore, fast-acting and efficient drugs are urgently needed for the treatment of PAM. To facilitate drug screening for this pathogen, an automated, high-throughput screening methodology was developed and validated for the closely related species Naegleria gruberi. Five kinase inhibitors and an NF-kappaB inhibitor were hits identified in primary screens of three compound libraries. Most importantly for a preclinical drug discovery pipeline, we identified corifungin, a water-soluble polyene macrolide with a higher activity against Naegleria than that of amphotericin B. Transmission electron microscopy of N. fowleri trophozoites incubated with different concentrations of corifungin showed disruption of cytoplasmic and plasma membranes and alterations in mitochondria, followed by complete lysis of amebae. In vivo efficacy of corifungin in a mouse model of PAM was confirmed by an absence of detectable amebae in the brain and 100% survival of mice for 17 days postinfection for a single daily intraperitoneal dose of 9 mg/kg of body weight given for 10 days. The same dose of amphotericin B did not reduce ameba growth, and mouse survival was compromised. Based on these results, the U.S. FDA has approved orphan drug status for corifungin for the treatment of PAM.

  19. The usage and current approaches of cell free fetal DNA (cffDNA as a prenatal diagnostic method in fetal aneuploidy screening

    Directory of Open Access Journals (Sweden)

    Hülya Erbaba

    2015-12-01

    Full Text Available Prenatal diagnosis of invasive and noninvasive tests can be done in a way (NIPT, but because of the invasive methods have risks of infection and abortion, diagnosing non-invasive procedure increasing day by day. One of the widespread cell free fetal DNA in maternal blood test (cffDNA that is increasing in clinical use has been drawing attention. The incidence of aneuploidy chromosomal anomaly of the kind in which all live births; Trisomy 21 (Down Syndrome 1/800, trisomy 13 (Patau syndrome 1 /10,000, trisomy 18 (Edwards syndrome is a form of 1/6000. Because of the high mortality and morbidity, it is vital that congenital anomalies should be diagnosed in prenatal period. Aneuploidy testing for high-risk pregnant women after the 10th week of pregnancy in terms of the blood sample is taken and free fetal DNA in maternal plasma is based on the measurement of the relative amount. Knowledge of the current criteria for use by healthcare professionals in the field test will allow the exclusion of maternal and fetal risks. In this study, it is aimed to demonstrate current international approaches related to the positive and negative sides of non-invasive that is one of the prenatal diagnostic methods of cffDNA test. J Clin Exp Invest 2015; 6 (4: 414-417

  20. International experience of informed consent and genetic counseling on non-invasive prenatal testing applied in Down syndrome prenatal screening%非侵入性产前检测技术知情同意与遗传咨询的国际经验

    Institute of Scientific and Technical Information of China (English)

    明坚; 许艳; 周萍; 黄葭燕; 陈英耀

    2015-01-01

    This paper summarized the international experience on the implementation of informed consent and genetic counseling when non-invasive prenatal testing(NIPT) applied in Down syndrome prenatal screening. Then its implications for China were discussed and some policy recommendations were put forward,including enhancing the training to the counselors and doctors,clearly defining the content of genetic counseling,and further standardizing the informed consent implementation.%围绕非侵入性产前检测技术(NIPT)应用于唐氏产前筛查的知情同意与遗传咨询实施,总结分析了国际相关经验与研究,并结合我国国情提出了相关政策建议。建议加强相关人员培训,明确知情告知内容,进一步规范知情同意与遗传咨询的操作实施。

  1. The relationship between high risk of prenatal serological screening for Down's syndrome and chromosomal abnormalities%唐氏综合征产前血清学筛查高风险与染色体异常的关系

    Institute of Scientific and Technical Information of China (English)

    吴坚柱; 陈宝江; 陈健生; 谢英俊; 林少宾

    2011-01-01

    摘要;目的 探讨联合高龄和超声异常因素对唐氏综合征产前血清学筛查检出染色体异常的影响.方法 对2005年1月至2010年4月1598例因唐氏综合征产前血清学筛查高风险来中山大学附属第一医院就诊的患者行胎儿染色体核型分析,分成血清学筛查高风险组、血清学筛查高风险合并高龄组、血清学筛查高风险合并超声异常组和血清学筛查高风险合并高龄、超声异常组4组,分析和比较各组染色体异常检出情况.结果 血清学筛查高风险合并高龄、超声异常组和血清学筛查高风险合并超声异常组的21三体阳性率和染色体异常率均显著高于血清学筛查高风险组;血清学筛查高风险合并高龄组的21三体阳性率和染色体异常率与血清学筛查高风险组的差异无统计学意义;血清学筛查高风险合并高龄、超声异常组的21三体阳性率显著高于血清学筛查高风险合并超声异常组.结论 唐氏综合征产前血清学筛查高风险合并其他产前诊断指征越多,患唐氏综合征的可能性越大,其中超声异常影响最大,高龄影响较小.%Objective; To investigate the influence of detecting chromosomal abnormalities in prenatal serological screening for Down's syndrome when combined with factors of advanced age and ultrasonic abnormalities. Methods: 1598 cases were chosen. All patients were done fetal karyotype analysis for high risk of prenatal serological screening for Down's syndrome. They were divided into four groups; high risk of serological screening, high risk of serological screening complicating with advanced age, high risk of serologi-cal screening complicating with ultrasonic abnormalities and high risk of serological screening complicating with advanced age and ultra-sonic abnormalities. Compare the detection of chromosomal abnormalities in the groups. Results: Positive rate of trisomy 21 and chro-mosome abnormal rate were significant

  2. Effects of prenatal blood lead exposure lower than 100 μg/L on infants neurobehavioral development%出生前低于100μg/L血铅暴露对婴儿发育的影响

    Institute of Scientific and Technical Information of China (English)

    王波; 邵迪初; 项张华; 倪为民; 杨水莲; 吴翠娥; 李凭健; 傅华

    2011-01-01

    [Objective] To determine the effects of prenatal lead exposure(lower than 100 μg/L) on six-month-old infant's growth and development. [Methods] The study subjects were 6-month-old infants whose mothers' blood lead were lower than 100 μg/L both during the 1st and 3rd trimester of gestation in a cohort study. Bayley infant development scale was used to evaluate the infants' development. The differences in mental development index(MDI) and psychomotor development index(PDI) of infant were compared across different prenatal blood exposure levels, using the P25, P50 and P75 of the blood lead during pregnancy as the dividing value of groups, respectively. [Results] The MDI and PDI of 6month-old infants tended to decrease as the increase of prenatal blood lead exposure level. The PDI of 6-month-old infants in the relative high lead level group was lower than that in the relative low lead group as the dividing value of groups was P25 and P50 of blood lead, and the difference were statistically significant(P<0.05). There were no significant differences in the MDI of 6-month-old infants across groups. Besides, multivariate analysis indicated that the PDI of the infants whose prenatal lead concentration higher than P50 was 4.48 point lower than that of infants below P50. Similarly, the PDI of the infants whose prenatal lead concentration higher than P25 was 6.51 point lower than that of infants below P25. The differences were statistically significant. [Conclusion] Low level prenatal lead exposure may exert an influence on infants' behavior development and such effect might be more significant at the low level of lead exposure, which merits further research.%[目的]探讨出生前100 μg/L以下剂量铅暴露对婴儿6月龄时智力和行为发育的影响.[方法]以出生前孕早期和晚期孕妇血铅低于100 μg/L的婴儿为研究对象,在其6月龄时用Bayley婴幼儿发育量表评价智力发育和精神运动发育.根据孕早期和晚期血铅的P25

  3. Role of Non-Invasive Detection of DNA in Prenatal Screening for Down's Syndrome%无创DNA检测在唐氏综合征产前筛查中的作用

    Institute of Scientific and Technical Information of China (English)

    侯朝晖; 刘华平; 陈冰; 李秀军; 任东平; 任力; 郭晓东

    2013-01-01

    目的:通过比较无创DNA检测和孕中期血清学筛查两种方法的筛查阳性率,从而肯定无创DNA检测在唐氏综合征产前筛查中的实用价值.方法:对500例单胎孕妇进行血清标记物(AFP+β-HCG)-联指标检测,应用配套软件计算唐氏综合征风险;对496例孕妇外周血中的游离DNA片段(含胎儿游离DNA)进行高通量测序,并将测序结果进行生物信息学分析,得出胎儿发生染色体非整倍体的风险率,并追踪胎儿和孕妇的情况.结果:唐氏综合征血清筛查组高危孕妇22例、阳性率为4.4%,假阳性率4.2%;无创DNA检测组筛查阳性孕妇3例,阳性率为0.6%,唐氏综合征检出率为100%.两种方法用于唐氏综合征产前筛查的差异有显著性(P<0.01).结论:无创DNA检测适用范围广、准确率高,是产前筛查是唐氏综合征的有效方法.%Objective: To compare the non-invasive detection of DNA and second trimester serum screening positive rate of screening of two methods, which must be non-invasive detection of DNA in prenatal screening for Down's syndrome practical value. Methods: 500 cases single fetal pregnant women were detected respectively serum mark object ( afp+ beta -hcg ), using software to calculate the risk of Down's syndrome. 496 cases of pregnant women were chosen to detect the free DNA fragment of peripheral blood ( with fetal free DNA) was sequenced and analyzed, then fetal chromosome aneuploid of risk rate was obtained, and followed up fetal and pregnant women. Results: Serum screening for Down's syndrome group of 22 patients with high risk pregnant women, the positive rate was 4.4%, a false positive rate of 4.2%; non-invasive detection of DNA groups screen-positive pregnant women in 3 cases, the positive rate was 0.6%, Down's syndrome detection rates was 100%. There were significant differences of prenatal screening for Down' s syndrome by these two methods (P<0.01 ). Conclusions: Non - invasive detection of DNA

  4. 产前超声筛查胎儿唇裂和(或)腭裂及相关畸形%Prenatal ultrasound screening for fetal cleft lip and palate and related abnormalities

    Institute of Scientific and Technical Information of China (English)

    甄理; 杨昕; 易翠兴; 欧燕媚; 李东至

    2012-01-01

    Objective To evaluate the sensitivity and specificity of prenatal ultrasound for detecting fetal cleft lip and palate,and the diagnosis rate of associated congenital structural and chromosomal abnormalities.Methods Thirty one thousand two hundred and forty five singleton pregnant women accepted prenatal examination and delivered in Guangzhou Women & Children' s Medical Center from Jan.2006 to Dec.2010 were recruited in this study.All pregnant women underwent prenatal ultrasound screening during second trimester,and whose fetuses were suspected to be cleft lip and palate were suggested to accept karyotype analysis.All babies delivered received oral examination to diagnose cleft lip and palate.Results Cleft lip and palate was diagnosed in 48 cases (1.5‰,48/31 245).Among which,there were 16 cases (33.3%,16/48) of cleft lip,21 cases (43.8%,21/48) of cleft lip with cleft palate and 11 cases (22.9%,11/48) of cleft palate.Prenatal ultrasound screening suggested 18 cases of cleft lip and 14 cases were comfirmed after birth with the accuracy rate of 77.8%,3 cases were diagnosed to be cleft lip with cleft palate and one cases was misdiagnosed.Prenatal ultrasound screening suggested 18 cases of cleft lip with cleft palate in accordance with the diagnosis after birth.Thirteen cases were normal in prenatal ultrasound screening,but two were diagnosed as cleft lip and 11 were diagnosed as cleft palate after birth.The sensitivity of prenatal ultrasound screening for cleft lip and cleft lip with cleft palate was 86.5%(32/37),and the sensitivity for cleft lip and palate was 66.7% (32/48),the false positive rate was 2.1% (1/48).Ten cases (27.8%,10/36) of cleft lip with cleft palate were found to be complicated with other abnormalities.Nine of the 18 cases prenatally diagnosed cleft lip with cleft palate accepted karyotype analysis and 7 were abnormal.Twenty-three of 36 cases with fetal cleft lip and palate in prenatal ultrasound screening were induced

  5. 不同方法在唐氏综合征产前筛查中的比较研究%Comparative study of different methods in Down's syndrome prenatal screening

    Institute of Scientific and Technical Information of China (English)

    欧秀月; 黄劲柏

    2013-01-01

    Objective:To comparison of different period of two CRC screening with the traditional two CRC screening in second trimester prenatal for Down's syndrome in effect. Methods:Using the Roche electrochemical detection technology,1289 cases accepted antenatal screening of pregnant women and5 patients who had been diagnosed with Down syndrome pregnancy of cryopreserved serum specimens in gestational weeks11 to14weeks of pregnancy determination of PAPP-A, Free beta-HCG, and then in 16~20 weeks pregnancy detection of AFP, HCG, concentration, were calculated for two screening and triple screening for risk value, the detection rate and false positive rate.Results:The study of early pregnancy detection of Down syndrome in 21 cases of high risk pregnant women, the second trimester detection of high risk pregnant women in 31 cases, including a period of high risk pregnant women in 20 cases, visible, there were32 cases of high risk pregnant women,31 cases underwent amnion cavity puncture examination, prenatal diagnosis in 1 cases, the positive rate is 3.2%. In 32 cases the screening case,30~40 years old accounted for 16 cases (50%), visible in women of advanced maternal age is down syndrome risk population.When the cut-off value of 1 to 270, with two triple screening for CRC screening for Down syndrome detection rates were65.2%;when the cut-off value of 1:380, different period two CRC screening detection rate was significantly higher than that of the traditional two CRC screening in( P<0.05) .Conclusions:In pregnant women during different periods of the traditional two CRC screening in second trimester prenatal is more effective for Down syndrome screening method, it is necessary to develop the region for the risk of cutting value, in order to improve prenatal screening efficiency.%目的:比较不同时期二联筛查与传统孕中期二联筛查在唐氏综合征产前筛查中的效果。方法:采用罗氏电化学检测技术,对1289例同意

  6. Fragment Screening of Soluble Epoxide Hydrolase for Lead Generation-Structure-Based Hit Evaluation and Chemistry Exploration.

    Science.gov (United States)

    Xue, Yafeng; Olsson, Thomas; Johansson, Carina A; Öster, Linda; Beisel, Hans-Georg; Rohman, Mattias; Karis, David; Bäckström, Stefan

    2016-03-04

    Soluble epoxide hydrolase (sEH) is involved in the regulation of many biological processes by metabolizing the key bioactive lipid mediator, epoxyeicosatrienoic acids. For the development of sEH inhibitors with improved physicochemical properties, we performed both a fragment screening and a high-throughput screening aiming at an integrated hit evaluation and lead generation. Followed by a joint dose-response analysis to confirm the hits, the identified actives were then effectively triaged by a structure-based hit-classification approach to three prioritized series. Two distinct scaffolds were identified as tractable starting points for potential lead chemistry work. The oxoindoline series bind at the right-hand side of the active-site pocket with hydrogen bonds to the protein. The 2-phenylbenzimidazole-4-sulfonamide series bind at the central channel with significant induced fit, which has not been previously reported. On the basis of the encouraging initial results, we envision that a new lead series with improved properties could be generated if a vector is found that could merge the cyclohexyl functionality of the oxoindoline series with the trifluoromethyl moiety of the 2-phenylbenzimidazole-4-sulfonamide series.

  7. Lead Screening for CXCR4 of the Human HIV Infection Receptor Inhibited by Traditional Chinese Medicine

    Directory of Open Access Journals (Sweden)

    Tzu-Chieh Hung

    2014-01-01

    Full Text Available The acquired immunodeficiency syndrome (AIDS is a serious worldwide disease caused by the human immunodeficiency virus (HIV infection. Recent research has pointed out that the G protein-coupled chemokine receptor CXCR4 and the coreceptor C-C chemokine receptor type 5 (CCR5 are important targets for HIV infection. The traditional Chinese medicine (TCM database has been screened for candidate compounds by simulating molecular docking and molecular dynamics against HIV. Saussureamine C, 5-hydroxy-L-tryptophan, and diiodotyrosine are selected based on the highest docking score. The molecular dynamics is helpful in the analysis and detection of protein-ligand interactions. According to the analysis of docking poses, hydrophobic interactions, hydrogen bond variations, and the comparison of the effect on CXCR4 and CCR5, these results indicate Saussureamine C may have better effect on these two receptors. But for some considerations, diiodotyrosine could make the largest variation and may have some efficacy contrary to expectations.

  8. Control Prenatal

    Directory of Open Access Journals (Sweden)

    P. Susana Aguilera, DRA.

    2014-11-01

    Full Text Available Los principales objetivos del control prenatal son identificar aquellos pacientes de mayor riesgo, con el fin de realizar intervenciones en forma oportuna que permitan prevenir dichos riesgos y así lograr un buen resultado perinatal. Esto se realiza a través de la historia médica y reproductiva de la mujer, el examen físico, la realización de algunos exámenes de laboratorio y exámenes de ultrasonido. Además es importante promover estilos de vida saludables, la suplementación de ácido fólico, una consejería nutricional y educación al respecto.

  9. Clinical Value of Prenatal Screen for Down' s Syndrome and Prenatal Diagnosis in the First and Second Trimester in Xiangtan%湘潭地区孕早中期联合产前筛查与产前诊断的临床应用价值探讨

    Institute of Scientific and Technical Information of China (English)

    孙辉; 王淑媛; 熊敏

    2012-01-01

    Objective To explore the clinical value of prenatal screen and diagnosis in the first and second trimester for preventing birth defects. Methods The serum markers of 18247 cases of pregnant women were detected by automatic Time-Resolved Fluorescence (TRF) , and amniotic fluid culture test for fetal karyotype diagnosis in high-risk pregnant women were carried out. Results In the 18247 cases of pregnant women, the high risk of DS and trisomy 18 were 873 and 91 cases respectively. The high risk of NTD was 104 cases, and the total positive rate was 5. 85%. In the 583 cases of pregnant women who accepted the amniotic fluid culture for prenatal diagnosis, the definitive diagnosis of chromosome numerical aberration were 19 cases in which included 13 cases of DS, 2 cases of trisomy and 4 cases of sex chromosomal abnormalities. The chromosomal structural abnormality were 13 cases and spina bifida or anencephaly were 13 cases, which was diagnosed by type-B ultrasonic. Conclusion Prenatal screen and diagnosis are effective predictors for adverse pregnancy outcome and have significant clinical value to prevent congenital defects in infants.%目的 探讨孕早中期孕妇联合产前筛查与产前诊断对预防出生缺陷的实用价值.方法 应用全自动时间分辨荧光免疫法对18247例孕妇血清标志物联合筛查,高风险孕妇通过羊水产前诊断进行效果评价.结果 筛查出唐氏综合征高风险873例,18-三体高风险91例,NTD高风险者104例,总阳性率5.85%.有583例孕妇接受羊水产前诊断,占筛查高危的60.5%.确诊胎儿染色体数目异常19例(唐氏综合征13例、18-三体综合征2例、性染色体异常4例);染色体结构异常13例;B超确诊脊柱裂或脑畸形13例.结论 联合产前筛查与产前诊断是预测不良妊娠结局的有效指标,对降低出生缺陷有重要的临床意义.

  10. Prenatal substance use in a Western urban community.

    OpenAIRE

    Buchi, K F; Varner, M W

    1994-01-01

    To assess the extent of prenatal substance use in a predominantly white population in an urban area of the western United States and to develop a risk profile for this population, a cross-sectional prevalence study was done. Prenatal clinics (10 public and 10 private) anonymously recorded demographic information about and collected aliquots of routinely obtained urine specimens from women during prenatal visits. Urine specimens were screened by enzyme immunoassay for amphetamines, marijuana, ...

  11. Prenatal screening and diagnosis analysis of 56 cases of older pregnant women%56例高龄孕妇的产前筛查与诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    吕冬梅

    2014-01-01

    Objective To study the elderly and pregnant women syndrome prenatal screening for Down diagnostic results analysis, provide reference for clinical diagnosis and treatment. Methods In our hospital in January 2012-2013 January Obstetrics prenatal check 56 cases of advanced maternal age, as a pilot study. All subjects underwent amniotic fluid culture and karyotype analysis. Statistical analysis of the results as well as chromosomal karyotype abnormality rate correlation with maternal age. Results 56 cases studied in 17 cases of chromosomal abnormalities, chromosomal abnormality rate of 30.36%; maternal age less than 35 years the rate of 19.23%fetal chromosomal abnormalities, maternal age older than 35 years the rate of 40.00%fetal chromosomal abnormal-ities. Conclusion Maternal age increases the rate of increase in fetal chromosomal abnormalities, it is necessary for advanced ma-ternal age, prenatal screening and diagnostic analysis of results.%目的:研究高龄孕妇进行唐氏综合症产前筛查以及诊断结果的分析,为临床诊断和治疗提供可参考依据。方法选取于我院2012年1月-2013年1月妇产科进行产前检查的56例高龄产妇,作为试验研究对象。所有研究对象均进行羊水培养和核型分析。统计核型分析结果以及染色体异常率与产妇年龄的相关性。结果56例研究对象中17例染色体异常,染色体异常率30.36%;年龄小于35岁产妇的胎儿染色体异常率19.23%,年龄大于35岁产妇的胎儿染色体异常率40.00%。结论产妇年龄增大胎儿染色体异常率上升,有必要对高龄产妇进行产前筛查以及诊断结果分析。

  12. Clinical application of standard prenatal ultrasound in screening the fetal malformation%规范化产前超声筛查胎儿异常的临床应用

    Institute of Scientific and Technical Information of China (English)

    何宇; 魏振彤; 费君伟; 冯丽华; 于晓伟

    2011-01-01

    Objective: To evaluate the clinical value of standardization prenatal ultrasound in screening the fetal malformation. Methods; Totally 2 175 pregnant women were inspected by standardization prenatal ultrasound examination in our hospital during May 2006 to March 2011. Fetal standard ultrasound cuts were saved . The content and form of ultrasound report were standard. These cases were followed to pregnancy ending. Results; 201 cases of fetal structural abnormalities (9. 23% ) were diagnosed by standardization ultrasound examination. 4 cases of fetal attachments abnormalities were diagnosed. The central nervous system malformation ranked first, uro-genital system malformation, fetal edema syndrome, digestive system malformation, cardiac abnormalities were followed Conclusion; The detecting rate of ultrasound screening in standardization prenatal diagnosis is much higher, and it has significant clinical utilities in diagnosing fetal malformation.%目的:评估规范化产前超声筛查胎儿异常的临床应用价值.方法:2006年5月~2011年3月进行规范化超声检查孕妇2 175例,规范化保存胎儿标准切面图片,规范化超声报告的内容和格式并追踪妊娠结局.结果:规范化超声检查胎儿2 175例,发现和产后证实胎儿异常201例(9.23%),其中胎儿附属物异常4例.胎儿畸形类型中中枢神经系统畸形占首位,其次为泌尿系统畸形、胎儿水肿综合征、消化系统畸形、心血管系统畸形.结论:规范化产前超声诊断出生缺陷检出率较高,对于诊断胎儿结构异常有着非常重要的临床价值.

  13. Virtual Screening and Molecular Docking Study of Bloom’s Syndrome Protein (BLM for Finding Potential Lead Drug Candidate

    Directory of Open Access Journals (Sweden)

    Manoj Kumar Verma

    2014-06-01

    Full Text Available Increased levels of locus-specific mutations within the BLM result in development of Bloom Syndrome and patients are found to be immune deficient. HRDC domain amino acid Lys1270 is presumably to play role in mediating interactions with DNA. Single point mutation of Lys1270 (K1270V reduces the potency of Double Holliday junction (DHJ DNA unwinding so BLM lead to its functional loss. Quadruplex formation have role in immunoglobulin heavy chain switching and inhibiting RecQ helicases activity in-vitro in BLM. Variety of G-Quadruplex ligands are employed by molecular docking for arriving at lead compound identification. The scoring function of docking results describes protein-ligand interaction and it conjointly instructed that docking of ligand at mutational binding site shows some repressing function to make potential lead drug molecule. So as to know the elaborated purposeful functional mechanism of protein and to relate impact of mutation with function and activity; dock screening, hit identification and lead optimization facilitate in design of lead drug compound.

  14. Hydroponic Screening of Fast-growing Tree Species for Lead Phytoremediation Potential.

    Science.gov (United States)

    Yongpisanphop, Jiraporn; Babel, Sandhya; Kruatrachue, Maleeya; Pokethitiyook, Prayad

    2017-08-20

    Using trees as phytoremediators has become a powerful tool to remediate lead from contaminated environments. This study aims to identify potential candidates among fast-growing trees by comparing their ability to tolerate and accumulate Pb. Cuttings from Acacia mangium, Azadirachta indica, Eucalyptus camaldulensis, and Senna siamea were cultured in 25% modified Hoagland's solutions supplemented with 10, 30, and 50 mg/L Pb for 15 days. Lead concentrations were determined by a flame atomic absorption spectrophotometer. All species showed high Pb tolerance (over 78%) and low translocation factor (40000 mg/kg) was recorded in A. mangium and E. camaldulensis grown in 50 mg/L Pb solution. Based on high biomass, tolerance index, and Pb content in plants, A. mangium and E. camaldulensis are good candidates for phytoremediation.

  15. Influence of atomic screening on fragmentation of ultrarelativistic lead ions in LHC collimators

    DEFF Research Database (Denmark)

    Baggesen, Jan C.; Sørensen, Allan H.

    2009-01-01

    When a lead beam is collimated in the CERN LHC some of the ions fragment in the collimators causing problems downstream. For design purposes the fragmentation probability needs to be assessed. At LHC energies ( γ 3000 ; the Lorentz-factor γ is the total energy of an ion in units of its rest energ...... case for various collimator materials and find a significant effect for tungsten, the heaviest candidate planned for use....

  16. Results of prenatal screening for fetal chromosome abnormality during the first trimester pregnancy in Guangzhou%广州市早孕期产前筛查胎儿染色体异常的结果分析

    Institute of Scientific and Technical Information of China (English)

    许遵鹏; 李蓓; 廖灿; 孙茜; 白雪; 李东至

    2014-01-01

    Objective To evaluate the efficiency of first trimester prenatal screening for fetal chromosome abnormality using maternal serum marker test and/or plus nuchal translucency (NT) in Guangzhou region.Methods The results of prenatal screening were retrospectively analyzed among 43 703 women with singleton pregnancies from January 2007 to September 2012.A total of 43 703 pregnancies between 9 and 13+6 weeks of pregnancy were collected and analyzed for maternal serum pregnancy-associated plasma protein A (PAPPA),free β-human chorionic gonadotropin (free β-hCG) with or without crownrump length (CRL).Nuchal translucency was measured by ultrasonographic scan between 11 and 13+6 weeks of pregnancy.Gestational age was estimated by ultrasonographic scan.The risk values of Down syndrome (DS) and trisomy 18 were calculated using the software Lifcycle.Comparing the difference between the combined screening (PAPPA,free β-hCG and NT) and serum marker screening (PAPPA and free β-hCG).Results Among the 43 703 pregnant women,screening showed that 1385 (3.17%) were Down syndrome positive and 55 (0.13%) were trisomy 18 positive.The final outcomes of pregnancy showed that 142 cases presented chromosomal abnormalities,of which 54 cases suffered from Down syndrome,13 had trisomy 18,and 75 had other chromosome abnormalities.The total detection rate of Down syndrome and trisomy 18 were 83.33% and 76.92%,respectively.The positive rate is lower,and the detection rate is higher in combined screening group than serum marker screening group.The median PAPPA MoM was lower and the median free β-hCG MoM and NT measured value was higher in Down syndrome pregnancies than control group.The median PAPPA and free β-hCG MoM were lower and the median NT measured value was higher in trisomy 18 pregnancies than control group.Conclusion The first trimester prenatal screening can effectively detect Down syndrome and trisomy 18 pregnancy.The combined screening method is superior to the serum

  17. 上海市浦东新区孕妇参加唐氏综合征产前筛查服务的影响因素%Influencing factors of accepting prenatal screening on Down's syndrome (DS) for the pregnant women in Pudong new area

    Institute of Scientific and Technical Information of China (English)

    黄勤瑾; 梁霁; 杨慧琳; 杨伶俐; 施君瑶; 梁敏红

    2012-01-01

    目的:通过调查社区产后妇女孕期接受唐氏综合征(DS)筛查服务的情况,探索影响DS产前筛查服务的因素.方法:选择上海市浦东新区10个街镇为研究社区,共调查1 397名产后妇女.接受DS筛查服务的情况.结果:从多因素分析结果可见,促进调查对象参加唐氏综合征产前筛查服务利用的因素有:本市户籍(OR=1.91)、文化程度大学本科以上(OR=1.51)、职业为公司职员(OR=1.39)、收入4 000~8 000元/月(OR =2.01)、收入8 000元/月以上(OR=3.20)、有保险(OR=1.40)以及参加过孕妇学校(OR=1.55).结论:降低筛查收费,开展DS产前筛查健康教育,加强外地户籍孕产期保健管理,构建DS产前筛查综合服务模式,可促进DS产前筛查的覆盖,提高服务可及性.%Objective; Through investigating the current situation of postpartum women's participation of DS screening during their pregnancy, to explore the influencing factors of accepting prenatal DS screening. Methods -A total of 1 397 postpartum women from ten street towns of Shanghais Pudong new area were selected. The situation of accepting prenatal DS screening were analyzed. Results: The mult-ivariate analysis results shown that the factors of accepting prenatal DS screening included household registration of Shanghai ( OR = 1.91), education above university degree ( OR = 1.51), occupation with company employee ( OR = 1. 39 ) , income between 4 000 - 8 000 Yuan/ month (OR =2.01) , income above 8 000 Yuan/month (OR =3.20) , had insurance (OR = 1. 40) and had attended school for pregnant women (OR = 1.55) . Conclusion; Reducing screening charge, health education on prenatal DS screening, enhancing nonlocal pregnant period health ?care management and building comprehensive prenatal DS screening service mode can promote the coverage of prenatal DS screening and improve the accessibility of the service.

  18. Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies

    Science.gov (United States)

    Clark, Dinah M.; Sherer, Ilana; Deardorff, Matthew A.; Byrne, Janice L.B.; Loomes, Kathleen M.; Nowaczyk, Malgorzata J.M.; Jackson, Laird G.; Krantz, Ian D.

    2012-01-01

    Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized by growth retardation, cognitive impairment, external and internal structural malformations, and characteristic facial features. Currently, there are no definitive prenatal screening measures that lead to the diagnosis of CdLS. In this study, documented prenatal findings in CdLS syndrome were analyzed towards the development of a prenatal profile predictive of CdLS. We reviewed 53 cases of CdLS (29 previously reported and 24 unreported) in which prenatal observations/findings were available. The review of these cases revealed a pattern of sonographic findings, including obvious associated structural defects, growth restriction, as well as a more subtle, but strikingly characteristic, facial profile, suggestive of a recognizable prenatal ultrasonographic profile for CdLS. In addition the maternal serum marker, PAPP-A, may be reduced and fetal nuchal translucency may be increased in some pregnancies when measured at an appropriate gestational age. In conclusion, CdLS can be prenatally diagnosed or readily ruled out in a family with a known mutation in a CdLS gene. The characteristic ultrasonographic profile may allow for prenatal diagnosis of CdLS in 1) subsequent pregnancies to a couple with a prior child with CdLS in whom a mutation has not been identified or 2) when there are unexplained pregnancy signs of fetal abnormality such as oligo- or polyhydramnios, a low maternal serum PAPP-A level and/or increased nuchal translucency, fetal growth retardation, or structural anomalies consistent with CdLS. PMID:22740382

  19. Lead Screening for HIV-1 Integrase (IN Inhibited by Traditional Chinese Medicine

    Directory of Open Access Journals (Sweden)

    Tzu-Chieh Hung

    2014-01-01

    Full Text Available Human immunodeficiency virus causes the acquired immunodeficiency syndrome (AIDS and becomes a serious world-wide problem because of this disease's rapid propagation and incurability. Integrase strand transfer inhibitors (INSTIs supports HIV have rapid drug resistance for antitreatment. Screening the traditional Chinese medicine (TCM database by simulating molecular docking and molecular dynamics may select molecular compounds to inhibit INSTIs against HIV drug resistance. (S-cathinone and (1S,2S-norpseudoephedrine are selected based on structure and ligand-based drugs are designed and then get higher bioactivity predicted score from SVM than Raltegravir and other TCM compounds. The molecular dynamics are helpful in the analysis and detection of protein-ligand interactions. According to the docking poses, hydrophobic interactions and hydrogen bond variations define the main regions of important amino acids in integrase. In addition to the detection of TCM compound efficacy, we suggest (1S,2S-norpseudoephedrine is better than the others based on the analysis of interaction and the effect on the structural variation.

  20. Nanoliter homogenous ultra-high throughput screening microarray for lead discoveries and IC50 profiling.

    Science.gov (United States)

    Ma, Haiching; Horiuchi, Kurumi Y; Wang, Yuan; Kucharewicz, Stefan A; Diamond, Scott L

    2005-04-01

    Microfluidic technologies offer the potential for highly productive and low-cost ultra-high throughput screening and high throughput selectivity profiling. Such technologies need to provide the flexibility of plate-based assays as well as be less expensive to operate. Presented here is a unique microarray system (the Reaction Biology [Malvern, PA] DiscoveryDot), which runs over 6,000 homogeneous reactions per 1" x 3" microarray using chemical libraries or compound dilutions printed in 1-nl volumes. A simple and rapid piezo-activation method delivers from 30 to 300 pl of biochemical targets and detector chemistries to each reaction. The fluorescent signals are detected and analyzed with conventional microarray scanners and software. The DiscoveryDot platform is highly customizable, and reduces consumption of targets and reaction chemistries by >40-fold and the consumption of compounds by >10,000-fold, compared to 384-well plate assay. We demonstrate here that the DiscoveryDot platform is compatible with conventional large-volume well-based reactions, with a Z' factor of >0.6 for many enzymes, such as the caspase family enzymes, matrix metalloproteinase, serine proteases, kinases, and histone deacetylases. The platform is well equipped for 50% inhibitory concentration (IC50) profiling studies of enzyme inhibitors, with up to 10 dilution conditions of each test compound printed in duplicate, and each microarray chip can generate over 300 IC50 measurements against a given target.

  1. Discovery of novel insomnia leads from screening traditional Chinese medicine database.

    Science.gov (United States)

    Chen, Hsin-Yi; Chang, Su-sen; Chan, Yueh-Chiu; Chen, Calvin Yu-Chian

    2014-01-01

    Insomnia is a prominent modern disease that affects an increasing population. Undesirable side effects of commercial drugs highlight the need to develop novel insomnia drugs. Virtual screening of traditional chinese medicine Database@Taiwan (TCM Database@Taiwan) identified 2-O-Caffeoyl tartaric acid (1), 2-O-Feruloyl tartaric acid (2), and Mumefural (3) as potential agonists for both gamma-amino butyric acid (GABA) or benzodiazepine (BZ) binding sites. The TCM candidates exhibited higher affinity than GABA and Zolpidem, a phenomenon that could be attributed to higher quantity of stabilizing H-bonds. Efficacy profiles using support vector machines and pharmacophore contour also suggest drug potential of the TCM candidates. Fragments added to the de novo derivatives 3a, 3b, 3c for GABA binding site, and 1a, 2a, and 3d for BZ binding site contributed to new binding sites and structural stability, further optimizing binding to GABA or BZ binding sites. Increased opening of the ion channel by candidate ligands provide strong support for their potential biological functions. The dual binding properties of the TCM candidates present a unique opportunity to develop twin-targeting drugs with less side effects. Derivative structures can be used as starting points for developing high affinity GABAA receptor agonists with specificity towards GABA binding site and BZ binding site.

  2. Prenatal Diagnosis of Congenital Dermal Sinus

    Directory of Open Access Journals (Sweden)

    Sharif Sakr

    2015-04-01

    Full Text Available Background - Congenital dermal sinus (CDS is an uncommon form of spinal dysraphism. Although postdelivery identification in the neonate is aided by several associated physical examination findings, establishing this diagnosis prenatally has proven to be elusive. Case Report - We present a case of CDS where the prenatal findings at 20 weeks gestation led to the diagnosis, which was confirmed postnatally. The associated protrusion of fibrotic membranes through the sinus tract helped in the identification of this lesion prenatally, but created confusion with a more common type of lesion, an open neural tube defect. This is the first case report in the literature describing prenatal diagnosis of fetal CDS. Conclusion - Prenatal diagnosis with postnatal confirmation of CDS leads to early intervention, better long-term outcomes, and lesser complications.

  3. 孕中期复杂性先心病的产前超声筛查%Ultrasound Prenatal Screening for Complex Congenital Heart Disease During the Second Trimester

    Institute of Scientific and Technical Information of China (English)

    孟昕

    2014-01-01

    目的:探讨孕中期超声对复杂性先天性心脏病的筛查作用,提高复杂性先心病的检出率。方法2010年10月至2013年10月期间,我院7295例孕妇于孕21~40周,分别进行对照组(月超检查)和观察组(通过美国G耘灾燥造怎泽燥灶730彩色多普勒超声诊断仪,通过心脏超声筛查的5个标准切面,发现异常心脏节段,再通过彩色多普勒血流信号,观察房室、大动脉血流情况,分析先天性心脏病类型)检查。产前超声诊断结果与本院尸检结果,进行对比分析。结果与对照组相比,观察组复杂性先天性心脏病的临床诊断率明显升高(0.27豫增泽.0.12豫),差异有统计学意义(孕<0.05)。7295例胎儿检出20例复杂性先天性心脏病,其中6例合并心外畸形,14例本院引产,其尸检结果与产前超声诊断结果相一致。结论复杂性先天性心脏病的畸形情况多变,超声分段检查结合彩色多普勒超声的产前超声筛查能够有效提高复杂性先心病的检出率。%Objective To explore the effect of ultrasound prenatal screening for complex congenital heart disease during the second trimester, and to improve the detection rate of complex congenital heart disease. Methods From October 2010 to October 2013, 7 295 pregnant women (pregnant between 21~40 weeks) in our hospital received the B-ultrasonic examination (control group) and color Doppler ultrasonography (GE Voluson 730) examination (observation group) respectively. Color Doppler ultrasonography examination found out abnormal heart segments through screening five standard section of cardiac ultrasound, then by color Doppler flow signals, the atrioventricular and aortic blood flow situation were observed, and the types of congenital heart disease were analyzed. Prenatal ultrasound diagnosis results and hospital autopsy results were taken for comparative analysis. Results Compared with the control group, the clinical diagnosis

  4. Locating sweet spots for screening hits and evaluating pan-assay interference filters from the performance analysis of two lead-like libraries.

    Science.gov (United States)

    Mok, N Yi; Maxe, Sara; Brenk, Ruth

    2013-03-25

    The efficiency of automated compound screening is heavily influenced by the design and the quality of the screening libraries used. We recently reported on the assembly of one diverse and one target-focused lead-like screening library. Using data from 15 enzyme-based screenings conducted using these libraries, their performance was investigated. Both libraries delivered screening hits across a range of targets, with the hits distributed across the entire chemical space represented by both libraries. On closer inspection, however, hit distribution was uneven across the chemical space, with enrichments observed in octants characterized by compounds at the higher end of the molecular weight and lipophilicity spectrum for lead-like compounds, while polar and sp(3)-carbon atom rich compounds were underrepresented among the screening hits. Based on these observations, we propose that screening libraries should not be evenly distributed in lead-like chemical space but be enriched in polar, aliphatic compounds. In conjunction with variable concentration screening, this could lead to more balanced hit rates across the chemical space and screening hits of higher ligand efficiency will be captured. Apart from chemical diversity, both screening libraries were shown to be clean from any pan-assay interference (PAINS) behavior. Even though some compounds were flagged to contain PAINS structural motifs, some of these motifs were demonstrated to be less problematic than previously suggested. To maximize the diversity of the chemical space sampled in a screening campaign, we therefore consider it justifiable to retain compounds containing PAINS structural motifs that were apparently clean in this analysis when assembling screening libraries.

  5. Pilot study for utilization of dried blood spots for screening of lead, mercury and cadmium in newborns.

    Science.gov (United States)

    Chaudhuri, Sanwat N; Butala, Steven J M; Ball, R Wayne; Braniff, Christopher T

    2009-03-01

    The exposure of pregnant women and young children to environmental pollutants is an ongoing concern of state and local public health departments. Of primary concern is the exposure to lead in lead-based paints, methyl mercury in contaminated fish and cadmium present at mining sites. The feasibility, utility and methodology of using blood spot cards collected for new born health screening purposes was studied for use in conducting routine state-wide surveillance of blood lead, mercury and cadmium levels in infants. Homogeneity of different lots of blank filter paper was examined. Mass measurements (weights) of filter paper punches were taken across three different lots of filter paper. Statistical analysis of the data was performed using one-way ANOVA, which indicated no significant difference in the means of all three lots, but high variances were noted. The three metals were examined in three different lots of filter papers purchased from the manufacturer. The lots had measurable amounts of cadmium and lead, but not mercury. Lead spike values were observed for roughly about 7% of the blank samples, indicating heterogeneous distribution of this metal. Statistical analysis of the data was also performed using a two-way ANOVA calculation with Tukey's pairwise comparisons. The results found that total mean metal loadings across the three lots were different. The concentration of the metals can be different from each other and the concentration of any one metal can differ across lots. Stability at different concentrations of the heavy metals in blood spotted onto filter paper with time and storage conditions was examined. Results indicate acceptable performance for at least 8.5 months for lead (near CDC's concern level) and for mercury (near NRC's concern level). The filter paper and blood spots were analyzed for metals using an acid extraction, followed by analysis using an inductively coupled plasma mass spectrometer (ICP-MS). Blood spot cards were studied from four

  6. The Application of Next Generation Sequencing Technology on Noninvasive Prenatal Test

    DEFF Research Database (Denmark)

    Jiang, Hui

    of effective treatment. The rapid development of next generation sequencing technology boosts the discovery of new causative gene for these rare diseases, as well as the genetic diagnosis in clinic practice. Carrier screening, prenatal diagnosis and newborn screening are wildly used in the world to prevent...... an invasive process, which might lead to maternal anxiety, or even miscarriage. Therefore, developing an effective approach to perform noninvasive prenatal test (NIPT) for rare diseases is the key challenge to prevent birth defect in the future. The discovery of cell-­free fetal DNA, coupling with next......, and maternal plasma. In order to obtain accurate result, we combined the haplotype information from the parents with maternal plasma deep sequencing data to recover the fetal genotype. Our study demonstrated that the sequencing-based new approach could be used to detect rare diseases, including chromosomal...

  7. Down analysis of 7859 cases of second trimester screening and prenatal diagnosis in Huaihua Region%怀化地区7859例孕中期唐氏筛查和产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    唐勇; 冯宗辉; 向文秀; 李金英

    2011-01-01

    目的 探讨孕中期唐氏筛查和产前诊断对检出胎儿染色体异常和妊娠不良结局的临床价值.方法 应用时间分辨荧光免疫法对7859例孕中期(14-20周)妇女进行血清标记物三联方案(hAFP+free-β-hCG+uE3)检测.筛查结果应用Muhical软件计算21三体、18三体综合征和开放性神经管畸形的风险(rish)概率.对于高风险孕妇经遗传咨询,知情同意,自愿选择行产前诊断,于孕18-24周左右在超声引导下进行羊膜腔穿刺,抽取羊水培养进行胎儿染色体核型分析.并继续追踪胎儿和孕妇情况.结果 在7859例孕妇中,筛查到高风险732例,唐氏筛查阳性率为7.65%(601/7859).其中367例接受羊水或脐血穿刺产前诊断,占筛查高风险孕妇的50.13%(367/732);发现胎儿染色体异常16例,异常检出率4.36(16/367),其中6例唐氏综合征、5例18-三体综合征、4例Turner's综合征、1例9号染色体臂间倒位.唐氏筛查高风险和低风险组不良妊娠结局分别为6.15%和1.46%,呈显著性差异(<0.05).结论 孕中期产前筛查是预测异常胎儿和不良妊娠结局的有效指标.结合羊水培养或脐血培养等产前诊断技术和方法,对预防先天缺陷儿出生、提高人口素质有重要临床应用价值.%Objective: To investigate the second trimester prenatal diagnosis of Down's screening and detection of fetal chromosomal abnormalities and the clinical value of adverse outcomes of pregnancy. Methods; The time-resolved fluorescence immunoassay 7, 859 cases of second trimester (14-20 weeks) women with serum markers triple regimen (hAFP + free - β - hCG + uE3) detection. Application software to calculate screening results Multical trisomy 21, trisomy 18 syndrome and open neural tube defects risk (rish) probability. For high-risk pregnant women by genetic counseling, informed consent, voluntarily choose to prenatal diagnosis, the pregnancy at 18 -24 weeks amniocentesis under ultrasound guidance, taking

  8. Yield of screening for atrial fibrillation in primary care with a hand-held, single-lead electrocardiogram device during influenza vaccination

    NARCIS (Netherlands)

    Kaasenbrood, Femke; Hollander, Monika; Rutten, Frans H.; Gerhards, Leo J.; Hoes, Arno W.; Tieleman, Robert G.

    2016-01-01

    Aims To assess the yield of screening for atrial fibrillation (AF) with a hand-held single-lead electrocardiogram (ECG) device during influenza vaccination in primary care in the Netherlands. Methods and results We used the MyDiagnostick to screen for AF in persons who participated in influenza vacc

  9. Intimate partner violence and utilization of prenatal care in the United States.

    Science.gov (United States)

    Cha, Susan; Masho, Saba W

    2014-03-01

    Over 1.5 million women are victims of physical, sexual, and emotional abuse by former or present intimate partners. Intimate partner violence (IPV) around pregnancy can lead to devastating health consequences to mothers and infants. While some research suggests that IPV negatively affects the utilization of health services like prenatal care (PNC), inconsistencies in the assessment of PNC utilization, timing of partner violence, and definitions of IPV yield conflicting results. The objective for the present study is to evaluate whether preconception IPV, prenatal IPV, or IPV in the preconception and/or prenatal period affects PNC utilization. This study analyzed the 2004-2008 national Pregnancy Risk Assessment Monitoring System (PRAMS), which included 202,367 women who delivered a live birth in the United States. IPV victimization was measured using four items that addressed physical abuse by a current or former husband/partner in the 12 months before (preconception) and during (prenatal) pregnancy. Responses were categorized as preconception, prenatal, and preconception and/or prenatal IPV. The outcome was PNC adequacy categorized as inadequate, intermediate, adequate, and adequate plus based on the Adequacy of Prenatal Care Utilization index. Separate logistic regression models provided crude and adjusted odds ratios and 95% confidence intervals (CI). Over 6% of women reported preconception and/or prenatal IPV and 26% had less than adequate PNC. Women who reported abuse before and/or during pregnancy were more likely to have inadequate PNC (odds ratio [OR] = 1.4, 95% CI = [1.3, 1.6]). Similarly, women who experienced preconception or prenatal IPV were 30% more likely to have inadequate PNC (OR = 1.3, 95% CI = [1.2, 1.5]; OR = 1.3, 95% CI = [1.1, 1.7], respectively). Adequate PNC is essential in improving pregnancy outcomes; however, women in abusive relationships may face ongoing challenges and difficulties with obtaining appropriate care. Findings underscore a

  10. Construction and Use of Resting 12-Lead High Fidelity ECG "SuperScores" in Screening for Heart Disease

    Science.gov (United States)

    Schlegel, T. T.; Arenare, B.; Greco, E. C.; DePalma, J. L.; Starc, V.; Nunez, T.; Medina, R.; Jugo, D.; Rahman, M.A.; Delgado, R.

    2007-01-01

    We investigated the accuracy of several conventional and advanced resting ECG parameters for identifying obstructive coronary artery disease (CAD) and cardiomyopathy (CM). Advanced high-fidelity 12-lead ECG tests (approx. 5-min supine) were first performed on a "training set" of 99 individuals: 33 with ischemic or dilated CM and low ejection fraction (EF less than 40%); 33 with catheterization-proven obstructive CAD but normal EF; and 33 age-/gender-matched healthy controls. Multiple conventional and advanced ECG parameters were studied for their individual and combined retrospective accuracies in detecting underlying disease, the advanced parameters falling within the following categories: 1) Signal averaged ECG, including 12-lead high frequency QRS (150-250 Hz) plus multiple filtered and unfiltered parameters from the derived Frank leads; 2) 12-lead P, QRS and T-wave morphology via singular value decomposition (SVD) plus signal averaging; 3) Multichannel (12-lead, derived Frank lead, SVD lead) beat-to-beat QT interval variability; 4) Spatial ventricular gradient (and gradient component) variability; and 5) Heart rate variability. Several multiparameter ECG SuperScores were derivable, using stepwise and then generalized additive logistic modeling, that each had 100% retrospective accuracy in detecting underlying CM or CAD. The performance of these same SuperScores was then prospectively evaluated using a test set of another 120 individuals (40 new individuals in each of the CM, CAD and control groups, respectively). All 12-lead ECG SuperScores retrospectively generated for CM continued to perform well in prospectively identifying CM (i.e., areas under the ROC curve greater than 0.95), with one such score (containing just 4 components) maintaining 100% prospective accuracy. SuperScores retrospectively generated for CAD performed somewhat less accurately, with prospective areas under the ROC curve typically in the 0.90-0.95 range. We conclude that resting 12-lead

  11. 孕中期产前筛查母血清标志物中位数分析%Analysis on medians of serum markers in prenatal screening during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    樊国萍

    2012-01-01

    Objective: To analyze the results of serum markers in prenatal triple screening during the second trimester of pregnancy among normal pregnant women in the region, explore the applicability of medians embedded into current software used for Downs syndrome screening. Methods: Chemiluminescence was used to detect the levels of serum alpha — fetoprotein (AFP) , p — human chorionic gonadotro-pin ((3-HCG) , and free estriol in 2 384 pregnant women atl4-21+6 gestational weeks, the medians were determined according to gesta-tional age, then the results were compared with software embedded medians. Results; There was significant difference between the medians of serum markers of normal pregnant women in the region and software embedded medians (AFP; P 0.05) . Conclusion: The laboratories in different regions should establish their own criteria for medians of serum markers to improve the quality of prenatal screening.%目的:回顾性分析该地区正常孕妇孕中期母血清产前三联筛查结果,探讨目前采用的唐氏筛查软件内嵌中位数的适用性.方法:采用化学发光法对2 384例(14~21+6周)孕妇血清中甲胎蛋白(AFP)、人绒毛膜促性腺激素(β-HCG)和游离雌三醇(uE3)进行检测,分别按孕龄确定其中位数并与软件内嵌中位数进行比较.结果:该地区正常孕妇血清标志物的中位数与软件给定的中位数有差异(P值:AFP<0.05,uE3 <0.01,β-HCG>0.05).结论:各地区实验室应建立自己的中位数标准,从而提高产前筛查质量.

  12. 产前筛查5928例结果与影响因素分析%Analysis of prenatal screening results and influence factors of 5 928 cases

    Institute of Scientific and Technical Information of China (English)

    杭春梅

    2015-01-01

    目的:探讨使用软件模型对孕中期孕妇产前筛查唐氏综合征的风险评估价值。方法:收治孕妇5928例,分别对孕妇的多项血清学指标进行检测,并以之为独立变量,用LifeCycle评估软件,对孕中期胎儿发生唐氏综合征的风险进行评估。结果:5928例孕妇中,唐氏综合征高风险孕妇252例,筛查的阳性率4.25%;产前经羊水穿刺细胞培养确诊2例。结论:孕中期孕妇进行唐氏综合征的筛查具有重要作用,能够对胎儿患唐氏综合征的风险进行有效估计和预测,是预防唐氏综合征的重要途径。%Objective:To explore the risk assessment value of soft machine model used for prenatal screening for Down's syndrome in the second trimester pregnant women.Methods:5 928 cases of pregnant women were selected.A number of serological indexes of pregnant women were detected.They were considered as independent variables,with LifeCycle assessmen software. Down's syndrome risk was assessed at the second trimester.Results:In 5 928 cases of pregnant women,pregnant women with high risk of Down's syndrome were in 252 cases,and the positive rate of screening was 4.25%;2 cases were confirmed by prenatal amniocentesis cell culture.Conclusion:Screening for Down's syndrome of the second trimester pregnant women has an important role.It can effectively evaluate the risk of Down syndrome rates.It is an important way to prevent Down's syndrome.

  13. 内蒙古地区孕中期产前筛查研究分析%ANALYSIS OF PRENATAL SCREENING OF MID PREGNANCY WOMEN IN INNER MONGOLIA REGION

    Institute of Scientific and Technical Information of China (English)

    武艾宁; 赵晓曦; 于荣鑫

    2016-01-01

    Objective:To discuss the positive rate of birth defects through the serological screening results of the pregnant metaphase women in our hospital,and provide prenatal intervention evidence for reducing birth defects. Methods:Full automatic time-resolved fluorescence immunoassay ( DELFIA ) was used in serum examination of mid pregnancy women, and using the Lifecycle risk assessment software to calculate the risk rate of 21-three body syndrome ( DS ) , 18-three body syndrome ( Edward) , neural tube defects ( NTD ) and other defects of fetus, ultrasound and amniotic fluid karyotype detection would be done in the pregnant women with high-risk for further diagnosis. Results:251 cases were detected with high-risk in 8100 cases,the positive rate was 3. 09%. 18 and 21-three body syndrome and NTD screening positive rate was 2 . 21% ( 179/8100 ) , 0 . 35% ( 28/8100 ) and 0. 54%(44/8100) respectively. Through the prenatal diagnosis,the results confirmed 21-three body syndrome in 3 cases,1 case of NTD,1 case of 13-three body syndrome and 1 case of inversion between the arms in 251 cases with high-risk. 1 case of DS was leakage screen after follow-up for low-risk pregnant women. Conclusion:21-three body syndrome(DS)has high incidence of birth defects,mid pregnancy prenatal serological screening is one of the important means to predict birth defects and has important clinical value to reduce birth defects.%目的::通过对我院孕中期孕妇的血清学筛查结果进行分析,探讨出生缺陷的阳性检出率特征,为最大限度降低出生缺陷率提供产前干预依据。方法:采用全自动时间分辨荧光免疫分析法( DELFIA)对孕中期孕妇血清进行三联筛查,利用美国Lifecycle风险评估软件计算21-三体综合征( Down`s sgndrome DS)、18-三体综合征( Edward)、神经管畸形( neural tube defects NTD)等缺陷在胎儿中的风险率,高风险者进一步行B超检查、羊水核型检测等方法进行

  14. Later Prenatal Checkups

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Last reviewed: May, 2011 Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  15. Prenatal Care Checkup

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  16. Prenatal ultrasound - slideshow

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/presentations/100197.htm Prenatal ultrasound - series—Procedure, part 1 To use the sharing ... Editorial team. Related MedlinePlus Health Topics Prenatal Testing Ultrasound A.D.A.M., Inc. is accredited by ...

  17. Identifying patients at risk of nursing home admission: The Leeds Elderly Assessment Dependency Screening tool (LEADS

    Directory of Open Access Journals (Sweden)

    Fear Jon

    2006-03-01

    Full Text Available Abstract Background Discharge from hospital to a nursing home represents a major event in the life of an older person and should only follow a comprehensive functional and medical assessment. A previous study identified 3 dependency scales able to discriminate across outcomes for older people admitted to an acute setting. We wished to determine if a single dependency scale derived from the 3 scales could be created. In addition could this new scale with other predictors be used as a comprehensive tool to identify patients at risk of nursing home admission. Methods Items from the 3 scales were combined and analysed using Rasch Analysis. Sensitivity and specificity analysis and ROC curves were applied to identify the most appropriate cut score. Binary logistic regression using this cut-off, and other predictive variables, were used to create a predictive algorithm score. Sensitivity, specificity and likelihood ratio scores of the algorithm scores were used to identify the best predictive score for risk of nursing home placement. Results A 17-item (LEADS scale was derived, which together with four other indicators, had a sensitivity of 88% for patients at risk of nursing home placement, and a specificity of 85% for not needing a nursing home placement, within 2 weeks of admission. Conclusion A combined short 17-item scale of dependency plus other predictive variables can assess the risk of nursing home placement for older people in an acute care setting within 2 weeks of admission. This gives an opportunity for either early discharge planning, or therapeutic intervention to offset the risk of placement.

  18. Application of non-invasive prenatal DNA test in screening of Down's syndrome%无创 DNA产前检测技术在诊断胎儿唐氏综合征中的应用

    Institute of Scientific and Technical Information of China (English)

    王艳; 窦肇华; 蒋智; 王大伟; 侯朝辉; 于剑飞; 刘建; 曹志生; 夏超群; 张晋玚; 商微

    2014-01-01

    Objective:To explore application value of non-invasive prenatal test in screening of Down ' s syndrome through using high-throughput sequencing technique to test fetal free DNA in maternal Peripheral blood. Methods:A total of 115 cases with singleton pregnancies, whose fetuses were at high risk of Down's syndrome by prenatal serological and B ultrasound screening, were se-lected. Their plasma was sampled for the non-invasive prenatal DNA test, and amniotic fluid was also collected for the chromosome karyotype analysis, wherein the result of the latter was used as a "gold standard". The results of the non-invasive prenatal DNA test and the chromosome karyotype analysis were compared and analyzed. The percentage of fetal DNA in the total maternal circulating DNA was inferred by calculating the number of reads mapped to Y chromosome. Results: In the 115 cases, there were 15 cases judged as high-risk Down's syndrome for their fetuses and 100 cases judged as low-risk Down's syndrome for their fetuses through the non-inva-sive prenatal DNA tes;and in the 100 cases, their G band karyotypes were all normal, however, in the 15 case, 14 cases were finally diagnosed as Down's syndrome through the chromosome karyotype analysis. Conclusions:The new non-invasive prenatal DNA test for Down's syndrome has the same sensitivity and specificity with the chromosome karyotype analysis of the aminotic cells; it has the ad-vantages of safety, non-invasion, and high throughput, therefore, it has a wider clinical application value. However, a further amnio-centesis confirmation is definitely required for the high-risk case identified by the non-invasive prenatal test.%目的:利用高通量测序技术检测孕妇外周血中的胎儿游离 DNA,探讨唐氏综合征无创产前检测的应用价值。方法:选择唐氏综合征高风险而进行确定诊断的单胎孕妇115例,用孕妇血浆进行无创DNA产前检测。同时,采集羊水,进行染色体核

  19. 血清学筛查与胎儿超声检查在18、13三体综合征产前诊断中的应用%Serologic Screening with Fetal Ultrasound Screening in the Prenatal Diagnosis of Edwards Syndrome and Patau Syndrome

    Institute of Scientific and Technical Information of China (English)

    钟萍; 林毅; 田葆东

    2011-01-01

    Objective;To explore the efficacy of serologic screening with fetal ultrasound screening in the prenatal diagnosis of edwards syndrome and patau syndrome. Methods:①78 pregnant women with high-risk of edwards syndrome or patau syndrome by prenatal serological screening who refused to make prenatal diagnosis were followed up (Group A).②56 pregnant women with abnormal fetal ultrasound findings (Group B) and, 134 pregnant women with high risk of edwards syndrome/ patau syndrome by prenatal serological screening (Group C) were underwent chromosome analysis after amniocentesis or puncture of umbilical cord from 18 to 32 weeks. Results;In high risk of 18 trisomy by serological screening, 2 cases with abnormal ultrasound findings terminated the pregnancy, 1 newborn had congenital heart disease after birth in group A. In group B, 3 cases were with 18 trisomy, 3 cases were with 13 trisomy and 7 cases were with the other chromosome abnormality. The incidence of abnormal findings was 23 .21 % (13/56) .Among them, 2 cases with 18 trisomy complicated with high risk of serological screening. In group C, 4 cases were with fetal abnormality, among them 2 cases were conformed diagnosed as 18 trisomy. The incidence of abnormality was2.99%(4/134).Conclusions:It is an effective method to detect 18, 13 trisomy by serum biochemical indicators screening in gravida and fetal ultrasound examination.%目的:探讨利用孕妇血清学筛查和胎儿超声检查进行18、13三体综合征胎儿产前诊断的有效性.方法:①对78例(A组)产前血清学筛查18、13三体高风险孕妇,拒绝进行产前诊断的孕妇进行随访观察.②对56例(B组)首诊主诉胎儿超声检查有结构异常的孕妇、134例(C组)首诊主诉为产前血清学筛查胎儿18三体高风险的孕妇,于孕18 ~32周行羊膜腔穿刺羊水细胞培养,或脐血管穿刺脐血细胞培养染色体分析.结果:A组的18三体筛查高风险孕妇有2例出现B超检

  20. 1560例孕中期妇女血清学产前筛查结果分析%Analysis on the maternal serum prenatal screening results of 1560 pregnant women during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    涂志华; 黄慈丹; 杨春; 朱晓妹; 周小婉; 王洁

    2013-01-01

    目的 探讨孕中期妇女血清学产前筛查唐氏综合征、18-三体综合征、开放性神经管畸形筛查结果的特点,为临床服务提供参考数据.方法 采用时间分辨免疫荧光法检测孕中期妇女血清uE3、游离-hCG、AFP含量,结合孕妇年龄、体重等信息,通过Lifecycle3.2软件评估胎儿唐氏综合征、18-三体综合征、开放性神经管畸形高危与否.孕妇产后两个月内回访妊娠结局.结果 唐氏综合征高风险阳性率为5.32%,1例高风险阳性确诊唐氏综合征;18-三体综合征高风险阳性率为0.90%;开放性神经管畸形高风险阳性率为0.64%.唐氏综合征高风险阳性率海南省妇幼保健院与合作医院比较,差异有统计学意义(x2=4.72,P< 0.05),35岁及以上组孕妇高于35岁以下组,两者差异有显著统计学意义(x2=70.63,P<0.01),35岁以下组高风险阳性率也达3.71%.结论 多单位协作进行产前筛查时,应重视标本采集、运送等规范操作;每个年龄段的孕妇均应重视产前筛查.%Objective To investigate the characteristics of prenatal screening results for Down's syn drome (DS), Edward's syndrome (ES) and open neural tube defects (ONTD), and to provide reference for clin ical service. Methods Time-resolved fluoroimmunoassay was used to detect the count of uE3, free-β-hCG, AFP in serum of pregnant women during the second trimester. The software Lifecycle3.2 was used to calculate the risk values of DS, ES, ONTD by importing the data of uE3, free-β-hCG, AFP, age, body weight, et al. The pregrant women were followed up 2 months after postpartum for pregnancy outcome. Results The positive rate of the high risk DS was 5.32%. One case of the high risk DS was diagnosed definitely. The positive rate of high risk ES was 0.90%, and the positive rate of high risk ONTD was 0.64%. The positive rates of high risk DS of Hainan Provincial Maternity and Child Health Hospital and cooperation hospitals were

  1. Analysis of prenatal screening results in 10 877 cases of pregnancy in Yanbian area%延边地区10877例孕中期产前筛查结果分析

    Institute of Scientific and Technical Information of China (English)

    太莲淑

    2016-01-01

    目的:探讨延边地区2012年10月~2014年9月期间的孕中期产前筛查在临床中的应用。方法:采用时间分辨荧光免疫分析法测定孕中期母血清中甲胎蛋白(AFP)、游离β人绒毛膜促性腺激素(free β-HCG)以及游离雌三醇(uE3)浓度,结合孕妇年龄、孕周及体重等因素,经配套的风险评估软件RISK-2T进行风险评估。结果:10877例孕妇共筛查出高风险449例,其中21-三体375例,18-三体23例,NTD 51例,高风险孕妇经医生产前咨询进行进一步产前诊断人数有251例,经上一级医院染色体核型分析的产前诊断确诊为真阳性数为15例,其中21-三体8例、18-三体4例,NTD高风险经B超诊断确诊3例。结论:孕中期产前筛查作为一种无创性检测手段,可以大大降低出生缺陷的发生。%Objective To study the application of prenatal screening in the mid-pregnancy which between October 2012 to September 2014 in Yanbian.Method Using the Time resolved fluoresecence immunoassay (TRFIA)determined the concentration of AFP、free β-HCG、uE3 in the mid-pregnancy.Combine the pregnant age、weight and other facts,assess the risks with RISK-2T software.Results 449 cases of high risks from 10 877 pregnancies which include 375 cases of Trisomy-21,23 cases of Tri-somy-18,51 cases of NTD,were screened out 251 cases of further prenatal diagnosis,15 cases of confirmed positive test result in Karyotype analysis.There were 8 cases of Trisomy-21、4 cases of Trisomy-18、3 cases of NTD among the positive cases in Kary-otype.Conclusion Prenatal screening in the mid-pregnancy is harmless and plays an objective role in reducing birth defects.

  2. 四川地区2007~2009年孕妇产前筛查情况分析%ANALYSIS OF PRENATAL SCREENING SITUATION IN SICHUAN AREA FROM 2007 TO 2009

    Institute of Scientific and Technical Information of China (English)

    龚云辉; 邱东生; 王和; 周容; 张迅; 李天伦; 袁粒星; 何斌; 韩代文; 唐君; 邹粉娥

    2012-01-01

    [目的]了解四川地区产前筛查的现状.[方法]在孕中期(孕15-20周)采血检测孕妇血清中甲胎蛋白(AFP)、人游离β-绒毛膜促性腺激素(f-βhCG)和游离雌三醇(μE3)(我觉得我们医院也一起用了游离雌三醇,我明天上门诊时看一下报告单)值,检测结果结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病及吸烟史等因素,利用风险评估软件计算21-三体、18-三体综合征和开放性神经管缺陷的风险概率.[结果]3年间四川地区孕妇总产前筛查率为5.08%,高危孕妇和低危孕妇的总筛查阳性率分别为23.68%和8.59%.21-三体、18-三体、开放性神经营缺陷在高危孕妇中的筛查阳性率分别为21.46%、0.96%、1.26%,在低危孕妇中分别为7.34%、0.13%、1.11%.[结论]产前筛查作为先天畸形的二级干预措施,在降低先天畸形发生方面有重要作用,但目前四川地区的产前筛查率仍较低,需进一步普及.%[Objective] To analyses the prenatal screening situation in Sichuan area. [Methods] The concentrations of AFP, free phCG and μE3 in the serum of mid-trimester (15-20 weeks pregnancy) pregnant women were tested. The risk of Down syndrome, Trisomy 18 and Nervous tube defect were evaluated by using the risk evaluation software. [Results] In the three years, the total rate of prenatal screening was 5.08%. Among the high risk and low risk pregnant women, the total positive rale was 23.68% and 8.59%, respectively. In the high risk group, the positive rate of Down syndrome, Trisomy 18 and Nervous lube defect were 21.46%, 0.96% and 1.26%, respectively; In the low risk group, they were 7.34%, 0.13% and 1.11%, re-spectively. [Conclusion] As the second level intervention measure of birth defect, prenatal screening played an important role in decreasing Jurth defect rate, but it should be further popularized.

  3. 毛细管电泳在产前诊断地中海贫血中的应用%DIAGNOSTIC UTILITY OF CAPILLARY ELECTROPHORESIS IN PRENATAL DIAGNOSIS SCREENING FOR THALASSEMIA

    Institute of Scientific and Technical Information of China (English)

    郭浩; 郭莉; 唐斌; 陈汉彪; 杜丽; 王奕霞

    2015-01-01

    Objective To study the diagnostic utility of capillary electrophoresis in prenatal diagnosis screening for thalassemia .Methods Between January 2013 and June 2014, 286 pregnant women were recruited who attended the prenatal diagnosis screening for thalassemia with hemoglobin electrophoresis and genetic testing at third term.Results With the genetic testing , 83 cases were normal;21 cases were homozygous α-thalassemia;13 cases wereα-thalassemia intermedia;86 cases were mildα-thalassemia;11 cases were'silent'α-thalassemia.Besides, 15 cases were homozygous β-thalassemia;51 cases were heterozygotes β-thalassemia;6 cases were compound het-erozygotes mutation of the αand β-globin chain gene .The results showed that increased Hb Bart's level or the pro-portion of Hb A in fetuses could be induced by the severity of thalassemia .Conclusion Capillary electrophoresis was definitely helpful in prenatal diagnosis screening for thalassemia at the third term .%目的:探讨毛细管电泳技术在产前诊断地中海贫血中的应用价值。方法2013年1月~2014年6月期间在本院因夫妇双方为同型地中海贫血为产前诊断指征且孕周为24~34周的就诊病例286例。对脐带穿刺后获取的脐血标本进行血红蛋白毛细管电泳和地中海贫血基因诊断。结果286例标本中,正常83例,巴氏水肿胎21例, Hb H 13例,轻型α-地贫86例,静止型α-地贫11例,重型β-地贫15例,轻型β-地贫51例,α复合β-地贫6例。脐血血红蛋白组成分析显示α-地贫胎儿脐血Hb Bart ’ s百分含量随受累α-珠蛋白基因个数的增加而增多,β-地贫胎儿脐血Hb A百分含量随受累β-珠蛋白基因个数的增加而减少。结论毛细管电泳能辅助诊断孕晚期胎儿α地中海贫血及β地中海贫血。

  4. [Toxoplasmosis in pregnancy: prevention, prenatal diagnosis and treatment].

    Science.gov (United States)

    Hohlfeld, P; Biedermann, K; Extermann, P; Gyr, T

    1995-01-01

    Maternal infection with Toxoplasma gondii acquired during pregnancy occurs in more than 500 women per year in Switzerland. Systematic screening at the beginning of pregnancy allows the introduction of health education programs. The screening during pregnancy is performed to diagnose primary maternal infections and to propose prenatal diagnosis and treatment. The administration of specific antibiotherapy during pregnancy (spiramycine or the association of pyrimethamine and sulfonamides) significantly reduces the risk of fetal infection. Prenatal diagnosis of congenital toxoplasmosis is possible and reliable. It avoids unnecessary termination of pregnancy when the fetus is not infected and specific therapy in case of infection (association of pyrimethamine and sulfonamides). Prenatal treatment may be proposed without prenatal diagnosis as of the 16th week of gestation. In any case, prenatal treatment seems to reduce the incidence of severe congenital toxoplasmosis.

  5. Ligand Discovery for a Peptide-Binding GPCR by Structure-Based Screening of Fragment- and Lead-Like Chemical Libraries.

    Science.gov (United States)

    Ranganathan, Anirudh; Heine, Philipp; Rudling, Axel; Plückthun, Andreas; Kummer, Lutz; Carlsson, Jens

    2017-03-17

    Peptide-recognizing G protein-coupled receptors (GPCRs) are promising therapeutic targets but often resist drug discovery efforts. Determination of crystal structures for peptide-binding GPCRs has provided opportunities to explore structure-based methods in lead development. Molecular docking screens of two chemical libraries, containing either fragment- or lead-like compounds, against a neurotensin receptor 1 crystal structure allowed for a comparison between different drug development strategies for peptide-binding GPCRs. A total of 2.3 million molecules were screened computationally, and 25 fragments and 27 leads that were top-ranked in each library were selected for experimental evaluation. Of these, eight fragments and five leads were confirmed as ligands by surface plasmon resonance. The hit rate for the fragment screen (32%) was thus higher than for the lead-like library (19%), but the affinities of the fragments were ∼100-fold lower. Both screens returned unique scaffolds and demonstrated that a crystal structure of a stabilized peptide-binding GPCR can guide the discovery of small-molecule agonists. The complementary advantages of exploring fragment- and lead-like chemical space suggest that these strategies should be applied synergistically in structure-based screens against challenging GPCR targets.

  6. A follow-up analysis of prenatal screening in 3651 cases on middle period pregnancy%3651例孕中期产前筛查孕妇随访结果分析

    Institute of Scientific and Technical Information of China (English)

    姚爱玲; 陈艳玲; 马爱军

    2011-01-01

    Objective: To explore the clinical application and value in prenatal screening of Down's syndrome and open nervous tube defect on middle period pregnancy.Methods: Serum samples were collected from 3651 pregnant women on middle period pregnancy (15 -20 +6 week) and free-β-human chorionic gonadot ropin (free-β-hCG) and alphafetoprotein (AFP) level were determined by time-resolved fluoroimmunoassay (TR-FIA, or DELFIA) method.Risk2T was used to calculate the risk rate of Down's syndrome (DS), 13/18 trisomy syndrome and open nervous tube defect (ONTD).Results: The calculated results show that 241, 20 and 30 cases were with high risk of DS, 13/18 trisomy syndrome and ONTD in 3651 test samples, respetively.After - birth visit on the highrisk pregnant women indicated that 5 births suffered DS, no birth suffered 13/18 trisomy syndrome and 2 births suffered ONTD.Among 3390 low-risk cases of DS, there was also one birth suffered DS.Conclusion: The results in this paper indicate that prenatal screening of middle period serum of pregnant women can reduce the risk of birth defects incidence.%目的 孕中期产前筛查在临床中的应用和意义.方法 应用时间分辨法,以血清AFP、free-β-HCG作为指标,对3651例孕15周~20周+6孕妇进行血清学产前筛查,Risk2T软件计算风险值.结果 检出唐氏综合征高危孕妇241例,随访发现5例唐氏综合症患儿,低危孕妇3390例,随访发现1例唐氏综合症患儿;检出13/18三体高危孕妇20例,随访未发现患儿;检出开放性神经管缺陷高危孕妇30例,随访发现2例无脑儿.结论 孕中期产前筛查可降低出生缺陷的发生.

  7. Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care?

    Science.gov (United States)

    Chandrasekharan, Subhashini; McGuire, Amy L; Van den Veyver, Ignatia B

    2014-10-01

    Thousands of patents have been awarded that claim human gene sequences and their uses, and some have been challenged in court. In a recent high-profile case, Association for Molecular Pathology, et al. v. Myriad Genetics, Inc., et al., the US Supreme Court ruled that genes are natural occurring substances and therefore not patentable through 'composition of matter' claims. The consequences of this ruling will extend well beyond ending Myriad's monopoly over BRCA testing and may affect similar monopolies of other commercial laboratories for tests involving other genes. It could also simplify intellectual property issues surrounding genome-wide clinical sequencing, which can generate results for genes covered by intellectual property. Non-invasive prenatal testing (NIPT) for common aneuploidies using cell-free fetal (cff) DNA in maternal blood is currently offered through commercial laboratories and is also the subject of ongoing patent litigation. The recent Supreme Court decision in the Myriad case has already been invoked by a lower district court in NIPT litigation and resulted in invalidation of primary claims in a patent on currently marketed cffDNA-based testing for chromosomal aneuploidies.

  8. Application of Color Doppler Ultrasonography in the Prenatal Screening of Non-High Risk Fetus%彩色多普勒超声在非高危胎儿产前心脏筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    王婷

    2016-01-01

    目的:探究彩色多普勒超声在非高危胎儿产前心脏筛查中的应用价值,通过胎儿产前心脏筛查以降低先天性心脏病患儿的出生率及死亡率。方法选取我院2013年12月~2015年12月收治的2352例处于孕20~24周的非高危胎儿作为实验组,同时选取同期341例高危胎儿作为对照组。这2693例均实施彩色多普勒超声检查,并对所有胎儿进行随访并随访至明确诊断,比较两组胎儿心脏畸形发生率以及非高危胎儿的畸形敏感性、特异性。结果实验组非高危胎儿心脏畸形的发生率低于对照组高危胎儿,差异有统计学意义(P<0.05)。非高危胎儿产前经彩色多普勒超声检查,其心脏畸形筛查的准确率为92.44%。四腔心和左、右室流出道切面筛查胎儿心脏崎形的特异性、敏感性分别为91.32%、99.9%。结论彩色多普勒超声在非高危胎儿产前心脏筛查中的应用价值较高,其诊断的特异度以及敏感度均较高。%Objective To explore the application value of color Doppler ultrasonography in the prenatal screening of non high risk fetus, birth rate and death rate in children with congenital heart disease by screening of fetal heart.Methods In our hospital from December 2013 to December 2015, 2 352 cases of non high risk fetus in 20 to 24 weeks of pregnancy were selected as experimental group, at the same time, 341 high-risk fetuses were selected as control group at the same time. All the 2 693 cases were examined by color Doppler ultrasound, and all the fetuses were followed up for deifnite diagnosis, the incidence rate of fetal heart rate and the abnormal sensitivity and specificity of the non - high risk fetus were compared between the two groups.ResultsIn the experimental group, the incidence rate of non high risk fetal heart malformation was lower than that of the control group, the difference was statistically signiifcant (P<0.05). The rate of screening for non

  9. 超声在21-三体综合征产前筛查中的应用分析%Aanalysis of prenatal ultrasonography in screening for fetal trisomy 21

    Institute of Scientific and Technical Information of China (English)

    韩璐; 荆春丽; 王彦; 冯丽云; 顾颜

    2016-01-01

    目的 探讨超声在21-三体综合征产前筛查中的应用价值.方法 2009年1月至2014年6月在大连市妇幼保健院被确诊为21-三体综合征的胎儿共77例,其中55例行超声筛查,分析其超声表现与21-三体综合征的关系.结果 55例接受产前超声筛查的21-三体综合征病例中,10例进行了孕早期超声筛查,8例(80%)发现异常;45例进行了孕中晚期超声筛查,37例(82.2%)发现超声异常.孕早期常见的异常为NT增厚(80%)、鼻骨缺失(40%)和静脉导管α波倒置(30%).孕中晚期常见的软指标异常为鼻骨缺失或发育不良(40.0%)、颈后皮肤皱褶增厚(26.7%)、肱骨或股骨短(17.8%)等;胎儿结构畸形主要为心血管畸形(33.3%)和十二指肠闭锁(13.3%)等.此外,21-三体综合征胎儿中晚期超声还可表现为羊水多(17.8%)和脐动脉血流异常(8.9%).结论 超声在21-三体综合征产前筛查中具有重要作用.%Objective:To investigate the clinical value of ultrasound in screening for fetal trisomy 21.Methods:From Jan.2009 to Jun.2014,77 fetuses was diagnosed as trisomy 21 in the Dalian Matemal and Child Health Hospital.In all cases,55 cases underwent prenatal ultrasound screening.The relationship between trisomy 21 and ultrasonic manifestations was analyzed.Results:In the 55 cases,10 cases were screened in early pregnancy.Sonographic anomalies were detected in 8 feruses (80%),including thickened nuehal translucency (80%),nasal bone hypoplasia (40%),reverse of a-wave of ductus venosus (30%) and so on.45 cases were screened in middle and late pregnancy.Sonographic anomalies were detected in 37 feruses (82.2%).The most common ultrasound markers were nasal bone hypoplasia (40%),thickened nuchal fold (26.7%) and short femurs and humerus (17.8%),the common structural malformations include cardiac defects (33.3%) and digestive system (13.3%).Furthermore,much amniotic fluid (17.8%) and abnormal umbilical artery

  10. 某市孕中期产前筛查诊断结果分析%Analysis on the prenatal screening and diagnosis in the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    张传英; 赵咏梅; 孟君

    2014-01-01

    Objective To investigate the clinical application value of prenatal screening and diagnosis in the second trimester of pregnancy .Methods Pregnant women whose ages were less than 35 years old ,were detected with serum alpha-fetoprotein(AFP) ,human chorionic fluid(free-β-HCG) and free three female alcohol(Ue3) by using luminescence analysis system in the mid-gestation .According to detection result ,we made use of software system to compute risk value of Down′s syndrome ,Edward syndrome and neural tube defect .Once the high-risk pregnant women were found out ,we preceded prenatal diagnosis on them by means of amniotic fluid puncture .And for the pregnant women with the age over 35 or having indication were directly carried on amniotic fluid puncture prenatal diagnosis after Informed Consent .Results There were 145 cases to be at high risk among pregnant women with ages under 35 ,and the screening positive rate was 6 .8% .Among 124 cases which took amniotic fluid chromosome exami-nation ,1 cases of Down′s syndrome ,1 cases of Edwards′s syndrome and 3 cases of the other chromosome abnormality were found out respectively .In addition ,there were 8 cases of chromosome abnormality were diagnosis among the pregnant women with the age over 35 or having indication of amniotic fluid puncture .Conclusion The mid-gestation prenatal test abnormal rate is higher among pregnant women with age less than 35 years old in Suining ,and it is very important to perform mid-gestation prenatal screening in order to prevent and reduce born defects .%目的:通过对孕中期孕妇进行产前筛查及产前诊断,探讨其临床应用价值。方法对于35岁以下的孕妇,采用化学发光分析系统,测定孕中期(15~20+6周)血清中甲胎蛋白(A FP )、游离β人绒毛膜促性腺激素(Freeβ-HCG)及游离雌三醇(uE3)的浓度。采用配套风险评估软件计算出唐氏综合征(21-三体)、爱德华综合征(18-三体综合征

  11. 广东省东莞地区地中海贫血产前筛查及产前诊断体系的建立%Establishment of the system of prenatal screening and prenatal diagnosis of thalassemia in Dongguan city

    Institute of Scientific and Technical Information of China (English)

    姚倩瑜; 李铭臻; 邱建国; 莫清萍; 钟鸣

    2013-01-01

    avoided by screening the incidence and types of genicmutations.Thus setting up the system of prenatal screening-prenatal diagnosis-selective abortion is effective to avoid the birth of neonates.And it is vital to improve the quality of human being.

  12. Prenatal exposure to lead and cognitive deficit in 7- and 14-year-old children in the presence of concomitant exposure to similar molar concentration of methylmercury

    DEFF Research Database (Denmark)

    Yorifuji, Takashi; Debes, Frodi; Weihe, Pal

    2011-01-01

    observed. In particular, higher cord-blood lead was associated with a lower digit span forward score on the Wechsler Intelligence Scale for Children-Revised (WISC-R) [beta=-1.70, 95% confidence interval (CI): -3.12 to -0.28] at age 7 and a lower digit span backward score on the WISC-R (beta=-2.73, 95%CI...

  13. Callosal agenesis followed postnatally after prenatal diagnosis.

    Science.gov (United States)

    Imataka, George; Nakagawa, Eiji; Kuwashima, Shigeko; Watanabe, Hiroshi; Yamanouchi, Hideo; Arisaka, Osamu

    2006-09-01

    Callosal agenesis is a congenital brain anomaly caused by embryonal hypogenesis of the corpus callosum. Concerning the neurological prognosis, epilepsy and motor disturbance are noted in some cases, while many cases are asymptomatic and the prognosis is good. We report a fetus tentatively diagnosed with hydrocephaly on prenatal echo-encephalography, which was performed without adequate explanation to and understanding of the parents. The parents had not expected an abnormality before the screening, and were subsequently not psychologically prepared for the discovery of the congenital brain anomaly on imaging. Moreover, they received no guidance on how to deal with any possible abnormalities. The pregnant mother was referred to our hospital. Prenatal MRI was performed after informed consent was obtained, and the fetus was diagnosed with callosal agenesis. The patient was followed for 5 years, and neurological development was normal. However, the parents have remained anxious while raising the child. Thus, the prenatal diagnosis of callosal agenesis in this case caused unnecessary mental burden to the parents. Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test.

  14. Pharmacoinformatics exploration of polyphenol oxidases leading to novel inhibitors by virtual screening and molecular dynamic simulation study.

    Science.gov (United States)

    Hassan, Mubashir; Abbas, Qamar; Ashraf, Zaman; Moustafa, Ahmed A; Seo, Sung-Yum

    2017-06-01

    Polyphenol oxidases (PPOs)/tyrosinases are metal-dependent enzymes and known as important targets for melanogenesis. Although considerable attempts have been conducted to control the melanin-associated diseases by using various inhibitors. However, the exploration of the best anti-melanin inhibitor without side effect still remains a challenge in drug discovery. In present study, protein structure prediction, ligand-based pharmacophore modeling, virtual screening, molecular docking and dynamic simulation study were used to screen the strong novel inhibitor to cure melanogenesis. The 3D structures of PPO1 and PPO2 were built through homology modeling, while the 3D crystal structures of PPO3 and PPO4 were retrieved from PDB. Pharmacophore modeling was performed using LigandScout 3.1 software and top five models were selected to screen the libraries (2601 of Aurora and 727, 842 of ZINC). Top 10 hit compounds (C1-10) were short-listed having strong binding affinities for PPO1-4. Drug and synthetic accessibility (SA) scores along with absorption, distribution, metabolism, excretion and toxicity (ADMET) assessment were employed to scrutinize the best lead hit. C4 (name) hit showed the best predicted SA score (5.75), ADMET properties and drug-likeness behavior among the short-listed compounds. Furthermore, docking simulations were performed to check the binding affinity of C1-C10 compounds against target proteins (PPOs). The binding affinity values of complex between C4 and PPOs were higher than those of other complexes (-11.70, -12.1, -9.90 and -11.20kcal/mol with PPO1, PPO2, PPO3, or PPO4, respectively). From comparative docking energy and binding analyses, PPO2 may be considered as better target for melanogenesis than others. The potential binding modes of C4, C8 and C10 against PPO2 were explored using molecular dynamics simulations. The root mean square deviation and fluctuation (RMSD/RMSF) graphs results depict the significance of C4 over the other compounds

  15. Update on prenatal care.

    Science.gov (United States)

    Zolotor, Adam J; Carlough, Martha C

    2014-02-01

    Many elements of routine prenatal care are based on tradition and lack a firm evidence base; however, some elements are supported by more rigorous studies. Correct dating of the pregnancy is critical to prevent unnecessary inductions and to allow for accurate treatment of preterm labor. Physicians should recommend folic acid supplementation to all women as early as possible, preferably before conception, to reduce the risk of neural tube defects. Administration of Rho(D) immune globulin markedly decreases the risk of alloimmunization in an RhD-negative woman carrying an RhD-positive fetus. Screening and treatment for iron deficiency anemia can reduce the risks of preterm labor, intrauterine growth retardation, and perinatal depression. Testing for aneuploidy and neural tube defects should be offered to all pregnant women with a discussion of the risks and benefits. Specific genetic testing should be based on the family histories of the patient and her partner. Physicians should recommend that pregnant women receive a vaccination for influenza, be screened for asymptomatic bacteriuria, and be tested for sexually transmitted infections. Testing for group B streptococcus should be performed between 35 and 37 weeks' gestation. If test results are positive or the patient has a history of group B streptococcus bacteriuria during pregnancy, intrapartum antibiotic prophylaxis should be administered to reduce the risk of infection in the infant. Intramuscular or vaginal progesterone should be considered in women with a history of spontaneous preterm labor, preterm premature rupture of membranes, or shortened cervical length (less than 2.5 cm). Screening for diabetes should be offered using a universal or a risk-based approach. Women at risk of preeclampsia should be offered low-dose aspirin prophylaxis, as well as calcium supplementation if dietary calcium intake is low. Induction of labor may be considered between 41 and 42 weeks' gestation.

  16. Noninvasive screening tools for Down syndrome: a review

    Directory of Open Access Journals (Sweden)

    Smith M

    2013-03-01

    Full Text Available Meagan Smith, Jeannie Visootsak Emory University, Department of Human Genetics, Atlanta, GA, USA Abstract: Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Testing strategies, guidelines, and screening options have expanded from their conception in the 1970s, and now include such options as anatomical ultrasound, maternal serum screening, and noninvasive prenatal testing. This review summarizes all currently available noninvasive diagnostic techniques for the detection of Down syndrome. By understanding fully each technology and the possible alternatives, the physician will be able to provide their patients with all the information necessary to make an informed decision regarding their medical management. Keywords: Down syndrome, noninvasive screening, diagnostic techniques

  17. Informed Consent - Attitudes, knowledge and information concerning prenatal examination

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; Hvidman, Lone

      Background:Prenatal screening has become an ever increasing part of antenatal care in the western part of the world. Providing women with information enabling an informed consent to prenatal examinations has been widely recommended, with women accepting or declining the screening tests offered...... in full understanding of pros and contra.Objective and hypothesis:To summarize current knowledge of women's expectations and attitudes concerning prenatal examinations as well as the amount of knowledge possessed by pregnant women undergoing prenatal examinations. Reasons for accepting or declining...... a screening test offered, as well as the influence of information in the decision-making process is also explored. Methods:The review is based on systematic search strategy in the electronic databases Medline and Science Citation. Additional studies were identified through reference lists of individual papers...

  18. HbH病产前筛查与妊娠结局的影响因素研究%The study on the factors of missed prenatal screening on thalassemia.

    Institute of Scientific and Technical Information of China (English)

    胡华; 包碧惠; 姚宏; 徐刚; 胡斌; 梁志清

    2011-01-01

    目的 探讨HbH病产前筛查和妊娠结局的影响因素.方法 通过MCV、MCH、MCHC、Hb、家族史等指标收集2007年至2011年孕前或产前筛查为地中海贫血的高危女性,并通过地中海贫血基α因检测,确诊夫妻双方均为α-地中海贫血携带者的产前诊断病例,进行羊水α和β地中海贫血基因检测,或脐带血进行血常规、血红蛋白电泳、基因检测,同时在孕中期进行胎儿系统彩超及超声心动图检查,将正常胎儿和重症地中海贫血胎儿彩超检查结果比较,最终进行胎儿地中海贫血的产前诊断.结果 通过上述指标筛查出HbH病高危孕妇病例35例,通过产前诊断确诊胎儿为重度地中海贫血病例11例,确诊为携带者病例13例,确诊为完全正常者病例11例,重度地中海贫血胎儿可出现心胸比例增大、胎盘厚度、腹水等溶血性贫血症状.对所有产前筛查孕妇病例进行随访,无漏诊病例.结论 基因检测和B超协助筛查可尽可能的避免HbH病的漏诊,HbH病胎儿的妊娠结局与地中海贫血基因型、父母选择、胎次等因素有着密切关系.%Objective; To study the prenatal diagnosis and missed diagnosis on thalassemia. Methods; Collect the pregnancy women of high risk through the MCV, MCH, MCHC, Hb and family history from 2007 to 2011. Then through the gene detection the couple who were both carriers of thalassemia was screened and diagnosised by amniotic fluid and cord blood. During the middle preg-nancy check the ultrasound and echocardiography. Compare the Bart thalassemia fetal with normal on cardiothoracic ratio, placental thickness, pericardial effusion, pleural effusion, ascites, subcutaneous edema, cord edema. Results; Through above index 2050 preg-nancy women of high risk were screened. There were 35 cases which the couple was both thalassemia carriers. They were prenatal diag-nosised in which there were 11 heavy thalassemia, 13 thalassemia carrier and 11 normal. Bart

  19. Study on prenatal screening of birth defect and fetal chromosomal abnormality%产前筛查先天性缺陷与胎儿染色体异常的研究

    Institute of Scientific and Technical Information of China (English)

    钟可文; 陈朝轩; 潘景良; 张应华

    2011-01-01

    Objective; To explore the junction and value of serum markers during the second trimester of pregnancy in prenatal screening of birth defect and fetal chromosomal abnormality. Methods; The serum levels of alpha fetal protein ( AFT), β - human chorionic gonadotropin ( β - HCC) and unconjugated eslriol among 2 555 pregnant women during the second trimester of pregnancy (14-22 gestation-al weeks) were detected, then risk probability was calculated combining maternal age, gestational weeks, body weight, twin pregnancy or not, diabetes mellitus or not on software; the high risk pregnant women were defined by chromosomal examination. Results; Among 2 555 pregnant women, 210 pregnant women were found with high risk of Downs syndrome, accounting for 8. 2% ; 26 pregnant women were found with high risk of trisomy 18 syndrome, accounting for 1.0% ; 29 pregnant women were found with high risk of neural tube defect, accounting for 1. 1%. Among the high risk pregnant women, 207 pregnant women received chromosomal examination of amniotic fluid cells or chromosomal examination of fetal umbilical cord blood, 12 pregnant women were found with abnormal chromosomal karyotype, the abnormal rate was 5. 8%. Conclusion; Triple markers screening during the second trimester of pregnancy is an effective method to screen fetal congenital defects, which can be used as a conventional method for prenatal screening.%目的:探讨孕中期血清标志物在产前筛查先天性缺陷与胎儿染色体异常中的作用和价值.方法:对2 555例孕中期(14 ~22周)孕妇血清AFP、β- hCG、和uE3三项指标进行检测,并结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病等,采用仪器配套软件计算风险概率,对高风险孕妇进行染色体检查确认.结果:2 555例孕妇中筛查出唐氏综合征高风险210例,占8.2%,18-三体高风险26例,占1.0%,NTD高风险29例,占1.1%,高风险孕妇中有207例自愿进行了羊水细胞染色体检查或胎

  20. 桂西地区产前筛查人群珠蛋白生成障碍性贫血基因型分布%Genotype distribution of population screening for thalassemia prenatal in western area of Guangxi

    Institute of Scientific and Technical Information of China (English)

    陈丽坤; 韦国凯; 陈湘壬; 黄丽梅; 廖珍艺; 王俊利; 韦贵将

    2015-01-01

    目的:调查桂西地区产前筛查人群珠蛋白生成障碍性贫血(简称地贫)的基因携带率、基因型及其分布特征。方法回顾性分析2012~2013年桂西地区的右江民族医学院附属医院、百色市人民医院、百色市妇幼保健院共三家医院的以产前筛查为目的的育龄人群地贫检查相关数据,包括血常规、血红蛋白电泳、地贫基因检查等。结果收集到1718例(即859对)夫妇的地贫筛查的相关数据,得出育龄人群中地贫基因携带者651例,地贫总发生率为37.90%,其中α‐地贫347例,发生率为20.20%,β‐地贫304例,发生率为17.70%,α‐地贫复合β‐地贫54例,发生率为3.14%。共检出携带有相同α或β‐地贫基因型的高风险夫妇53对,占参检夫妇对数的6.17%。结论桂西地区产前筛查育龄人群地贫基因携带率近40%,其中α‐地贫基因型以αα/‐‐SEA和αα/‐α3.7为主;β‐地贫基因型以β17M/N和β41‐42M/N为主;此数据可为该地区育龄人群的地贫防控提供支持。%Objective To investigate gene carrying rate ,genotype and distribution characteristics of population screening for thalassemia prenatal in western area of Guangxi .Methods Relevant data of population screening for thalassemmia from 2012 to 2013 in Affiliated Hospital of Youjiang Medical University for Nationalities ,People′s Hospital of Baise City and Maternity and Child Care Hospital of Baise City were analyzed retrospectively ,including blood routine examination ,hemoglobin electrophoresis ,thalassemia gene inspection .Results Data of 1 718 cases (859 couples) screening thalassemia were collected ,there were 651 persons carrying thalassemia gene ,the total incidence rate was 37 .90% ,including α‐thalassemia 347 cases (20 .20% ) ,β‐thalassemia 304 cases (17 .70% ) ,α‐thalassemia complex β‐thalassemia 54 cases(3 .14% ) .A total of 53 couples with

  1. 血常规及Hb电泳在孕期筛查地中海贫血的临床价值分析%Clinical significance of blood routine test and Hb electrophoresis in prenatal screening of thalassemia

    Institute of Scientific and Technical Information of China (English)

    李娟; 黄楠

    2015-01-01

    目的::探讨产前筛查地中海贫血的临床意义。方法:通过回顾性分析,对就诊的2284例中孕期孕妇进行血常规、血红蛋白电泳检查进行地中海贫血筛查分析,对表型阳性的样本进一步行地中海贫血基因检测。结果:2284例孕妇中,地中海贫血筛查阳性的有139例(6.09%),经基因检测确诊为地中海贫血的125例(5.60%),地中海贫血筛查的诊断符合率较高89.93%(125/139)。结论:地中海贫血基因检测要求高,方法繁琐,地中海贫血筛查方法简单,诊断符合率较高,可用于基层医院筛查地中海贫血。%Objective: To investigate the clinical significance of prenatal screening of thalassemia. Methods2284 cases of pregnant women in the second trimester, screened for thalassemia phenotype through blood routine test and hemoglobin electrophoresis were retrospectively analyzed, and the positive samples were further detected for thalassemia gene. ResultsIn 2284 cases of pregnant women,139 cases ware positive(6.09%), and 125 cases were confirmed by thalassemia gene detection (5.60%). The diagnosis rate of screening of thalassemia was higher,89.93% (125/139). Conclusions Thalassemia gene detection is expensive and complicated, while the screening method is more simple, and the rate of diagnosis is relatively high. Therefore,it can be used in basic hospital.

  2. Antiprotozoan lead discovery by aligning dry and wet screening: prediction, synthesis, and biological assay of novel quinoxalinones.

    Science.gov (United States)

    Martins Alho, Miriam A; Marrero-Ponce, Yovani; Barigye, Stephen J; Meneses-Marcel, Alfredo; Machado Tugores, Yanetsy; Montero-Torres, Alina; Gómez-Barrio, Alicia; Nogal, Juan J; García-Sánchez, Rory N; Vega, María Celeste; Rolón, Miriam; Martínez-Fernández, Antonio R; Escario, José A; Pérez-Giménez, Facundo; Garcia-Domenech, Ramón; Rivera, Norma; Mondragón, Ricardo; Mondragón, Mónica; Ibarra-Velarde, Froylán; Lopez-Arencibia, Atteneri; Martín-Navarro, Carmen; Lorenzo-Morales, Jacob; Cabrera-Serra, Maria Gabriela; Piñero, Jose; Tytgat, Jan; Chicharro, Roberto; Arán, Vicente J

    2014-03-01

    which the individual QSAR outputs are the inputs of the aforementioned fusion approach. Finally, the fusion model was used for the identification of a novel generation of lead-like antiprotozoan compounds by using ligand-based virtual screening of 'available' small molecules (with synthetic feasibility) in our 'in-house' library. A new molecular subsystem (quinoxalinones) was then theoretically selected as a promising lead series, and its derivatives subsequently synthesized, structurally characterized, and experimentally assayed by using in vitro screening that took into consideration a battery of five parasite-based assays. The chemicals 11(12) and 16 are the most active (hits) against apicomplexa (sporozoa) and mastigophora (flagellata) subphylum parasites, respectively. Both compounds depicted good activity in every protozoan in vitro panel and they did not show unspecific cytotoxicity on the host cells. The described technical framework seems to be a promising QSAR-classifier tool for the molecular discovery and development of novel classes of broad-antiprotozoan-spectrum drugs, which may meet the dual challenges posed by drug-resistant parasites and the rapid progression of protozoan illnesses. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. 利用母血中胎儿有核红细胞结合血清筛查和三维超声无创性产前诊断唐氏综合征%Noninvasive prenatal screening of Down's syndrome by fetal nucleated erythrocytes detection in maternal blood combined with serum screening and three-dimensional ultrasound

    Institute of Scientific and Technical Information of China (English)

    相文佩; 温子娜; 水丽君; 徐晓燕; 陈汉平

    2011-01-01

    目的:利用母外周血中胎儿有核红细胞结合血清三联筛查及三维超声,建立快速无创性产前诊断唐氏综合征的有效模式.方法:早、中期孕妇共670例,采取血清三联筛查结合三维超声和病史选取唐氏高危孕妇,抽取高危孕妇的外周血,流式细胞术富集母血中的胎儿有核红细胞(Fetal Nucleated Red Blood Cells,FNRBCs);次日进行多重引物原位杂交(mutiprimed in situ labeling,multi-PRINS)检测胎儿细胞21号染色体与Y染色体.结果:通过血清三联筛查和三维超声结合病史筛选出高危孕妇24例,高危孕妇在两日内即可确诊,24例中诊断23例染色体正常胎儿,包括男胎12例、女胎11例;诊断1例男性唐氏综合征胎儿.24例标本检测结果和实际胎儿核型符合.结论:血清三联筛查、超声检查结合病史筛选出高危孕妇,然后利用母血中胎儿有核红细胞进行多重引物原位杂交检测细胞染色体,可作为快速、无创性产前诊断唐氏综合征的有效模式,并可为其他胎儿染色体基因异常或者宫内感染的无创性产前诊断提供参考.%Objective: To establish a rapid and effective noninvasive prenatal diagnostic model of Down's syndrome by fetal nucleated erythrocytes detection in maternal blood combined with serum triple screening and three -dimensional ultrasound. Methods:670 pregnant women of early, middle and late pregnancy were selected, the high risk pregnant women of Down's syndrome were chosen by senun triple screening combined with three - dimensional ultrasound and medical history; the peripheral blood samples of high risk pregnant women were abstracted, flow cytometry was used to enrich fetal nucleated erythrocytes in maternal blood; on the following day, multiple - primer in situ hybridization was used to detect Y chromosome and 21 chromosome in fetal cells. Results:24 high risk pregnant women of Down's syndrome were screened out by serum triple screening combined with

  4. Diagnóstico Prenatal

    OpenAIRE

    2010-01-01

    Diagnóstico Prenatal/ propósitos del diagnóstico prenatal/ Tamizaje a partir del Control Prenatal/ Pacientes de bajo riesgo/ Tamizaje bioquímico/ Pacientes de alto riesgo/ Pruebas invasivas y no invasivas

  5. 平行移位检查法筛查胎儿膝关节屈曲方向异常%Prenatal screening the abnormal flexed direction of knee joints by parallel moving examination

    Institute of Scientific and Technical Information of China (English)

    钱敏; 张丹; 孟焱; 翟林; 郑蓉

    2011-01-01

    目的 探讨平行移位检查法(PME)在产前筛查胎儿膝关节屈曲方向异常的价值.方法 4623例胎儿在常规筛查胎儿畸形的同时,应用PME检查法观察膝关节的屈曲方向,并注意观察胎儿四肢长骨的长度.结果 在所有受检妊娠胎儿中超声共观察到3例膝关节屈曲方向异常,检出率约为0.6‰.3例胎儿均足月行剖宫产分娩证实,均为女性患儿,其中Larsen综合征1例、先天性膝关节脱位2例.结论 PME检查法可观察胎儿膝关节屈曲方向,判断是否存在大关节形态异常,敏感性高,可有效提高胎儿大关节畸形的产前超声检出率.%Objective To investigate the value of parallel moving examination ( PME ) in prenatal screening the abnormal flexed direction of knee joints. Methods A total of 4623 fetus were examined by conventional ultrasound, and the fetal flexed direction of knee joint was observed by PME, the length of long bones of limbs was observed too. Results There were 3 cases of abnormal flexed direction of knee joints in all fetuses, the detection rate was 0. 6‰. 3 fetuses were females and confirmed by cesarean section, including 1 case of Larsen syndrome, 2 cases of congenital dislocation of knee joint. Conclusion PME ultrasonic examination can observe the flexed direction of knee joint, and evaluate the condition of knee joints. PME can improve the prenatal diagnostic rate of congenital big joints abnormity in fetus.

  6. 北京平谷区三年出生缺陷产前超声筛查分析%Prenatal Ultrasound Screening Analysis for the Birth Defects within 3 Years in Pinggu District in Beijing

    Institute of Scientific and Technical Information of China (English)

    刘大平

    2013-01-01

    Objective Ultrasonography in prenatal screening for birth defects diagnosis,understanding of the region the incidence of birth defects,in order to reduce the occurrence of congenital malformation.Methods In 2007,2008,my area,2009 (statistical time for every year from October 1st to next September 30th) delivery within seven days after the diagnosis of birth defects and ultrasound examination results were analyzed.Results In three years the region a total of 162 infants with birth defects,a total of 60 cases of prenatal ultrasound screening detected fetal malformation,and confirmed after birth ultrasound diagnosis correctly,ultrasound screening for the detection rate for 37 %.Missed diagnosis of malformations mainly for cardiac malformation in 45 cases,means (toe) abnormalities in 26 cases,lip,palate 8 cases.Conclusions Ultrasound examination can be detected in the vast majority of congenital fetal malformations,at present this area for gastroschisis,anencephaly and other obvious fetal malformation high detection rate,on minor malformations such as finger (toe) abnormalities in three years has never been detected,on fetal cardiac abnormalities by ultrasonography technology needs to be further improved.%目的 探讨超声产前筛查对出生缺陷的诊断价值,了解本地区出生缺陷的发生动态,为减少先天畸形的发生提供依据.方法 将平谷区2007-2009年(统计时间为每年10月1日至次年9月30日)分娩后7d内诊断的出生缺陷儿与超声检查结果,进行对比分析.结果 3年全区共分娩畸形儿162例,产前超声共筛查出60例畸形胎儿,且出生后证实超声诊断正确,超声筛查的检出率为37%.漏诊心脏畸形45例,指(趾)异常26例,唇、腭裂8例等.结论 超声检查可以检出绝大多数的胎儿先天畸形,目前平谷区对腹裂、无脑儿等明显的胎儿畸形检出率高,对微小畸形如指(趾)异常3年从未检出过,对胎儿心脏异常的超声检查技术有待进一步提高.

  7. 孕中期产前筛查7717例结果分析%Analysis on the prenatal screening results of 7 717 cases during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    楼淑芳

    2012-01-01

    Objective; To explore the chromosomal abnormality situations of positive fetuses of trisomy 21 syndrome, trisomy 18 syndrome and neural tube defect in serum screening during the second trimester of pregnancy, carry out secondary diagnosis among high risk population, find the ill fetuses, and prevent their birth. Methods; Time -resolved fluoroimmunoassay was used to calculate the risk values and cut values of trisomy 21 and trisomy 18, then the positive cases received chromosomal karyotype analysis. Results; Among 7 717 cases receiving prenatal screening, 295 pregnant women were found with high risk, including 191 cases with trisomy 21 syndrome, the positive rate was 2.48% ; 32 cases with trisomy 18 syndrome, the positive rate was 0.41% ; 72 cases with high risk of neural tube defect, the positive rate was 0. 93%. Sixty - three positive cases received fetal chromosomal karyotype analysis of amniotic fluid, 2 cases with trisomy 21 syndrome and 2 cases with trisomy 18 syndrome were diagnosed definitely; among the cases with neural tube defect, one case with myeloschisis, one case with cleft lip and palate, one case with viscera bareness and two cases with congenital heart disease were diagnosed definitely by ul-trasonography. Conclusion; Serum alpha fetoprotein detection and free -β- human chorionic gonadotropin detection during the second trimester of pregnancy can screen out the high risk cases of trisomy 21 syndrome, trisomy 18 syndrome, and neural tube defect, early diagnosis and early intervention can be achieved through prenatal diagnosis.%目的:探讨孕中期母血清筛查21-三体和18-三体综合征及神经管缺陷胎儿阳性病例中的染色体异常情况.对高风险人群进行后续诊断,及早发现患病胎儿,防止其出生.方法:采用时间分辨免疫荧光法,对风险值计算21-三体和18-三体切割值,对阳性病例进行染色体核型分析.结果:在7 717例产前筛查中共筛查出高风险孕妇295例,其中21-

  8. 桂林地区5057例唐氏综合征产前筛查临床分析%Clinical analysis from 5057 Down's syndrome prenatal screening.

    Institute of Scientific and Technical Information of China (English)

    蒋群芳

    2013-01-01

    目的 探讨妊娠中期唐氏综合征产前筛查对胎儿染色体异常核型检出的实用价值.方法 对5057例孕中期孕妇血清进行甲胎蛋白(AFP)、β绒毛膜促性腺激素(β-HCG)及游离雌三醇(uE3)的测定,利用分析软件进行风险评估,高风险孕妇进行羊膜穿刺羊水细胞染色体核型分析.结果 5057例孕妇中唐氏综合征高风险孕妇263例,筛查阳性率为5.20%,其中247例孕妇进行了羊水细胞培养,异常检出率为6.48%.检出21-三体6例,纯合型5例和嵌合型1例;染色体结构异常4例,46,XX,t(2;17)、45,X,der(14;21)各1例,46,XY,inv (9)2例;非整数倍核型2例,克氏综合症(KS) 47,XXY和超Y综合征47,XXY各1例.染色体多态3例,46,XY,1qh+、46,XX,22p+、46,XY,Yp+各1例.结论 应用孕妇血清三联生化指标进行产前筛查,是预测21-三体胎儿和其他异常核型胎儿的有效指标,结合羊水细胞培养指导孕妇妊娠,对减少缺陷儿出生具有重要临床价值.%Objective:To study the gestation Down's syndrome prenatal screening for fetal anomaly of chromosome karyotype detection of practical value.Method:The value of AFP,3-HCG,uE3 serum in serum of 5057 cases the use of pregnant women were detected by analysis software for risk assessment,high-risk pregnant women in amniotic membrane puncture amniotic fluid cells karyotype analysis.Result:5057 cases of pregnant women at high risk of Down's Syndrome in 263 cases of pregnant women,screening positive rate was 5.20%,among which 247 cases of pregnant women in the amniotic fluid cell culture,anomaly detection rate is 6.48%.Detection and three body 6 cases,homozygous type 5 cases and mosaic type 1 cases.Chromosome structure abnormal 4 cases,46,XX,t (2; 17),45,X,der (14; 21) each of the cases,46,XY,inv (9) 2 cases.Non integer times karyotype in 2 cases,KS 47,XXY and super Y syndrome 47,XXY each 1 case.Chromosome polymorphism in 3,46,XY,1 qh +,46,XX,22p +,46,XY,Yp + 1 case

  9. To investigate the Clinical Value of Second Prenatal Trimester Screening in 3236 Cases for Down’s Syndrome%探讨3236例孕中期唐氏筛查的临床意义

    Institute of Scientific and Technical Information of China (English)

    王海燕; 陈熙; 周莉君; 刘云

    2014-01-01

    Objective To investigate the clinical value of Second Prenatal Trimester Screening in 3236 Cases for Down’s Syndrome. Methods Applicate time-resolved fluorescence immunoassay on 3236 cases of second trimester (14-20+6weeks) women with three targets labeled testing of serum markers AFP, uE3and Free-β-HCG.Calculate the risk of Down’s Syndrome risk by using software.For these pregnant women who is with high risk of Down’s syndrome, use Amniocentesis and B scan to find fetal karyotype .Results There are 980 pragnant women with abnormal individual value or high risk of Down’s syndrome.Make the diagnosis by B-ultrasound ,amniocentesis,and examinating the newbirth baby ,there are 14 (1.4%) fetus and fetalor postnatal diagnosis of Down syndrome and Chromosomal disease .There are 2256 pragnant women with low risk of Down’s syndrome.And among which,there are 8(0.4%) fetalor postnatal diagnosis of congenital disease.Conclusion The value of Second Prenatal Trimester Screening for screening Chromosomal disease and reducing birth defects in children born is significant.%目的:探讨孕妇孕中期进行唐氏筛查的临床应用价值。方法使用全自动时间荧光免疫分辨仪对3236例孕中期(14~20+6周)妇女进行血清标记物血清甲胎蛋白(AFP)、游离雌三醇(uE3)和绒毛膜促性腺激素Free-β-亚基(Free-β-HCG)三项指标进行检测,使用软件计算风险值,对高风险和单项值异常的孕妇进行B超和羊水染色体检查。结果:其中唐氏筛查高风险和单项值异常的孕妇共980例,通过B超和羊水检查,或出生后确诊胎儿患唐氏综合征或各类染色体疾病的共有14例,占1.4%。筛查结果为低风险的孕妇共2256例,通过B超或出生后诊断胎儿患先天性疾病的有8例,占0.4%。结论:对孕中期的孕妇进行唐氏筛查不仅检查出唐氏综合征胎儿,还可以筛查出患有其他染色体疾病或神经管缺陷的胎儿,对降

  10. Prenatal screening and diagnosis of genetic deafness by microarray%芯片检测结合测序技术在遗传性耳聋产前基因筛查与诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    孙莲花; 李磊; 王晓雯; 朱亚忠; 柴永川; 李晓华; 吴皓; 杨涛

    2012-01-01

    Objective To evaluate a microarray-based mutation screening method for genetic deafness and its application in prenatal diagnosis.Methods Mutation screening of common deafness genes was performed in pregnant women and volunteers spouses.Nine common mutations in four major deafness genes,GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA,were detected simultaneously by a microarray-based method.Genetic counseling was given based on their testing results.Results 5.11% of pregnant women carried at least one mutation.Among them,seven carried mutation in the mitochondria 12S rRNA gene and were offered aminoglycoside-induced ototoxicity warning.For other mutation carriers of GJB2 or SLC26A4 genes,additional mutation screening was performed in their husbands by direct sequencing.A total of 20 couples were at risk of giving birth to children with genetic deafness.Of five couples who selected to undergo prenatal diagnostic testing of the fetus,four were diagnosed as wild type or heterozygous for the tested genes and one as p.V37I/c.235delC compound heterozygous for GJB2.Conclusions DNA microarray is a quick,easy and reliable method to screen mutations in genetic deafness genes.Application of this method in prenatal screening and diagnosis might effectively reduce the occurrence of genetic deafness.%目的 探讨遗传性耳聋基因检测芯片在中国孕妇人群常见遗传性耳聋基因突变位点检测中的作用,并评估其在遗传性耳聋产前诊断中的应用.方法 对3056例孕妇采集外周血并抽提DNA,采用遗传性耳聋基因芯片检测GJB2、SLC26A4、线粒体12S rRNA、GJB3等4个中国人群常见遗传性耳聋基因共9个突变热点.根据检测结果对有耳聋生育风险的夫妇提供遗传咨询与生育指导.结果 3056例孕妇中,共检测到156例携带至少一种基因突变,占总抽查人数的5.11%.其中7例为线粒体12S rRNA突变,预测后代亦为此突变携带者,需终生避免使用氨基糖苷类抗生素.149例

  11. Prenatal diagnosis of cloacal malformation.

    Science.gov (United States)

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Operator Radiation and the Efficacy of Ceiling-Suspended Lead Screen Shielding during Coronary Angiography: An Anthropomorphic Phantom Study Using Real-Time Dosimeters

    Science.gov (United States)

    Jia, Qianjun; Chen, Ziman; Jiang, Xianxian; Zhao, Zhenjun; Huang, Meiping; Li, Jiahua; Zhuang, Jian; Liu, Xiaoqing; Hu, Tianyu; Liang, Wensheng

    2017-02-01

    Operator radiation and the radiation protection efficacy of a ceiling-suspended lead screen were assessed during coronary angiography (CA) in a catheterization laboratory. An anthropomorphic phantom was placed under the X-ray beam to simulate patient attenuation in eight CA projections. Using real-time dosimeters, radiation dose rates were measured on models mimicking a primary operator (PO) and an assistant. Subsequently, a ceiling-suspended lead screen was placed in three commonly used positions to compare the radiation protection efficacy. The radiation exposure to the PO was 2.3 to 227.9 (mean: 67.2 ± 49.0) μSv/min, with the left anterior oblique (LAO) 45°/cranial 25° and cranial 25° projections causing the highest and the lowest dose rates, respectively. The assistant experienced significantly less radiation overall (mean: 20.1 ± 19.6 μSv/min, P shielding, the ceiling-suspended lead screen reduced the radiation to the PO by 76.8%, 81.9% and 93.5% when placed close to the patient phantom, at the left side and close to the PO, respectively, and reduced the radiation to the assistant by 70.3%, 76.7% and 90.0%, respectively. When placed close to the PO, a ceiling-suspended lead screen provides substantial radiation protection during CA.

  13. The relationship between the result of prenatal screening and age, bady weight, gestational age%产前筛查结果与年龄、体质量、孕周的关系

    Institute of Scientific and Technical Information of China (English)

    王莉; 郭秀仪

    2013-01-01

    目的 研究中期孕妇产前筛查唐氏综合征、开放性脊柱裂(OSB)、爱德华综合征3种严重先天性缺陷与年龄、体质量、孕周的关系,探讨产前筛查的影响因素,避免相关因素的影响,降低产前筛查的假阳性和假阴性,提高产前筛查的准确率.方法 全自动化学发光免疫分析仪检测5 347例妊娠14~21周中期孕妇血清中甲胎蛋白(AFP)、游离人绒毛膜促性腺激素β-亚单位(Free-β-hCG)、游离雌三醇(μ-E3)水平,应用风险评估软件系统,结合孕妇年龄、体质量、孕周、产次、吸烟、是否糖尿病等因素校正后分别得出3种先天缺陷是否高风险.结果 5 347例中,筛查出唐氏综合征阳性391例,占7.31%(391/5 347);OSB阳性85例,占1.59%(85/5 347);爱德华氏综合症阳性21例,占0.39%(21/5347).唐氏综合征及爱德华综合征与年龄相关(均为P<0.001),均随年龄增大筛查阳性率增高,不同年龄分组间阳性率差异有统计学意义(P<0.01),OSB与年龄不相关(P>0.05).体质量因素、三种先天缺陷均与体质量相关(P<0.00l),唐氏综合征阳性率随体质量增加而增高OSB阳性率随体质量增加而降低,爱德华综合征阳性率表现为40 kg以下及65 kg以上较中间体质量阳性率高.孕周因素,OSB与孕周相关(P<0.05),但不同孕周分组间OSB阳性率差异无统计学意义(P>0.05),唐氏综合征及爱德氏综合征与孕周不相关(均为P>0.05).结论 产前筛查受众多因素影响,特别是年龄、体质量、孕周,筛查中应准确掌握孕妇的相关信息,才能提高产前筛查的效率.%Objective To evaluate the impact of age.bady weight, Gestational age on the screening of Down's syndrome, Edward s syndromedrisomy 18 syndrome),open spina bifida(OSB). To reduce false positive and false negative, increase prenatal screening efficiency. Methods Detect the level of Alpha-fetoprotein ( AFP ) ,free human chorionic gonadotropin beta subunit

  14. Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-09-01

    Full Text Available Prenatal screening with α-fetoprotein (AFP and ultrasonography have allowed the prenatal diagnosis of neural tube defects (NTDs in current obstetric care, and open spina bifida has been considered a potential candidate for in utero treatment in modern pediatric surgery. This article provides an overview of maternal serum AFP screening, amniotic fluid AFP assays, amniotic fluid acetylcholinesterase immunoassays and level II ultrasound for NTDs, prenatal repair of fetal myelomeningocele, recurrence risk of NTDs, and differential diagnosis of NTDs on prenatal ultrasound.

  15. 孕早期胎儿超声结构筛查的必要性探讨%The essentiality of prenatal ultrasound screening of fetal malformations in the first trimester

    Institute of Scientific and Technical Information of China (English)

    戴晨燕; 茹彤; 顾燕; 杨燕; 杨丽娟; 徐燕

    2012-01-01

    Objective; To assess the essentiality of ultrasound screening in detecting the abnormal cases in the first trimester. Methods: The retrospective review included the pregnant women in the first trimester from December 1, 2007 to October 31, 2010 in the Center for prenatal diagnosis in The Affiliated Drum Tower hospital of Nanjing University Medical College. Scan fetal structural with transabdominal ultrasound, the conventional measurement of fetal crown - rump distance ( CRL) , nuchal translucency thickness (NT) , fetal heart rate (HR) , observation of fetal brain, spine, extremities, thoracic and abdominal wall, four - chamber view of the heart, stomach, bladder, double umbilical artery, placental and amniotic fluid volume and other indicators, determine whether fetal structural abnormalities and its appendages. Results; A total of 3000 pregnant women in 11 -13 +6 weeks suffered the examination, in which a single pregnancy in 2514 cases, 478 cases of twin pregnancy, three pregnancy in 8 cases. All of them, there were 91 cases with fetal structural abnormalities. Conclusion: Ultrasound screening in the first trimester can detect out the severe structural abnormalities of fetal at the very onset, and provide the support for further prenatal diagnosis and obstetric treatment. For multiple pregnancy after the discovery of fetal structural abnormalities, but also in judgment of chorionic, to provide the basis for abnormal conditions in the treatment.%目的 通过研究孕早期胎儿超声结构筛查发现的异常病例,探讨孕早期行超声结构筛查的必要性.方法 回顾2007年12月1日至2010年10月31日在南京市鼓楼医院产前诊断中心超声室行孕早期胎儿结构筛查的孕妇,行经腹部超声检查胎儿,常规测量胎儿冠臀距(CRL)、颈项透明层厚度(NT)、胎心率(HR),观察胎儿颅脑、脊柱、四肢、胸腹壁、四腔心结构、胃泡、膀胱、双脐动脉、胎盘及羊水量等指标,明确有无胎儿及其

  16. Prenatal ultrasound screening for fetal malformation of category in the middle and late preg-nancy:analysis of 1200 cases%中晚孕期产前超声筛查胎儿畸形1200例分析

    Institute of Scientific and Technical Information of China (English)

    曾理; 马继斌; 杨鑫荣

    2015-01-01

    目的:探讨产前超声在胎儿畸形类别筛查中的应用价值。方法2014年2月至2015年3月在我院行胎儿早孕期超声检查正常的孕妇1200例,分别在中孕期(第21~30周)及晚孕期(第31~35周)复查超声。结果中孕期检出畸形胎儿14例(1.17%),其中中枢神经畸形检出率最高(3例),其次是心血管畸形、颜面部畸形、胎儿肿瘤、腹裂、脐膨出、双胎畸形、骨骼及四肢畸形、泌尿系统畸形、呼吸系统畸形、消化系统畸形。晚孕期检出畸形胎儿4例(0.33%),分别为呼吸系统异常、沁尿系统异常、颜面部异常及心脏异常。结论产前超声检查对胎儿畸形的诊断具有重要的意义。超声检查在中孕期对部分畸形类别效果欠佳,因此在孕晚期进行超声检查时需对胎儿的颜面部、呼吸系统及心血管等器官进行筛查,最大程度地降低畸形的漏诊率。%Objective To investigate the clinical value of prenatal ultrasound screening for fetal malformation of category. Methods During the period between February 2014 and March 2015,1200 normal pregnancy women in early pregnancy ultrasound ex-amination were re-examined during the second trimester(21~30 weeks)and the late pregnancy(31~35 weeks).Results Fourteen cases with fetal malformation were detected in the second trimester re-examination(1.17%).Of the 14 cases,the highest positive rate was central nervous system malformation( n=3) followed by cardiovascular malformations,fetal facial malformations,fetal tumors,gas-troschisis,umbilical bulging,twin malformation,skeletal deformity and the four limbs malformation,malformation of the urinary system, and abnormalities of respiratory system and digestive system.In the late pregnancy check,4 fetal malformations were found(0.33%). The malformations were abnormalities of respiratory system、malfarmation of urinary system.cardiovascular malformations and fetal facial malformations

  17.   Information and acceptance of prenatal examinations - a qualitative study

    DEFF Research Database (Denmark)

    Fleron, Stina Lou; Dahl, Katja; Risør, Mette Bech

      Background:In 2004 The Danish National Board of Health issued new guidelines on prenatal examinations. The importance of informed decision making is strongly emphasised and any acceptance of the screenings tests offered should be based on thorough and adequate information. Objective...... and hypothesis:To explore the influence of information in the decision-making process of prenatal screenings tests offered, the relation between information, knowledge and up-take rates and reasons for accepting or declining the screenings tests offered.  Methods:The study is based on a qualitative approach...... using a semi-structured interview guide and includes 26 pregnant women each interviewed shortly after having received information at their general practitioner, and again after having completed prenatal screenings tests.   Results:Only very few of the pregnant women in this study remember having...

  18. 彩色多普勒检测胎儿三尖瓣反流产前筛查的临床意义%Clinical significance of color doppler detection in prenatal screening of fetal tricuspid regurgitation

    Institute of Scientific and Technical Information of China (English)

    王京平; 王萍平; 郑来坤

    2014-01-01

    目的:探讨彩色多普勒在中晚孕胎儿三尖瓣反流产前筛查中的临床意义及鉴别诊断。方法选择2009年3月~2012年6月就诊的11265例中晚期孕妇。观察其胎儿三尖瓣口彩色多普勒反流情况及脉冲多普勒评估流速、压差,追踪随访。结果1306例胎儿监测到三尖瓣反流,发生率11.6%。其中反流速度大于2.8m/s者46例,小于2.8m/s者1261例。结论彩色多普勒能够敏感地检出胎儿三尖瓣反流,对胎儿某些心脏疾病的诊断提供重要临床价值。%Objective To investigate the clinical significance and differential diagnosis of color doppler in the prenatal screening of middle and late pregnancy fetal tricuspid regurgitation. Methods 11265 middle and late pregnancy gravidae treated from March 2009 to June 2012 were selected. The color doppler tricuspid regurgitation situation of their fetuses was observed and the pulse doppler was used to evaluate the flow rate and pressure difference;the fetuses received follow-up visits. Results 1306 fetuses showed tricuspid regurgitation, with the incidence of 11.6%.Among them, 46 fetuses had a backflow rate over 2.8m/s and 1261 fetuses less than 2.8m/s. Conclusion Color doppler can detect fetal tricuspid regurgitation sensitively and is therefore of important clinical value for some fetal heart diseases.

  19. Prenatal care: associations with prenatal depressive symptoms and social support in low-income urban women.

    Science.gov (United States)

    Sidebottom, Abbey C; Hellerstedt, Wendy L; Harrison, Patricia A; Jones-Webb, Rhonda J

    2017-06-03

    We examined associations of depressive symptoms and social support with late and inadequate prenatal care in a low-income urban population. The sample was prenatal care patients at five community health centers. Measures of depressive symptoms, social support, and covariates were collected at prenatal care entry. Prenatal care entry and adequacy came from birth certificates. We examined outcomes of late prenatal care and less than adequate care in multivariable models. Among 2341 study participants, 16% had elevated depressive symptoms, 70% had moderate/poor social support, 21% had no/low partner support, 37% had late prenatal care, and 29% had less than adequate prenatal care. Women with both no/low partner support and elevated depressive symptoms were at highest risk of late care (AOR 1.85, CI 1.31, 2.60, p care (AOR 0.74, CI 0.54, 1.10, p = 0.051). Women with moderate/high depressive symptoms were less likely to experience less than adequate care compared to women with low symptoms (AOR 0.73, CI 0.56, 0.96, p = 0.022). Social support and partner support were negatively associated with indices of prenatal care use. Partner support was identified as protective for women with depressive symptoms with regard to late care. Study findings support public health initiatives focused on promoting models of care that address preconception and reproductive life planning. Practice-based implications include possible screening for social support and depression in preconception contexts.

  20. Combinatorial Screening Identifies Novel Promiscuous Matrix Metalloproteinase Activities that Lead to Inhibition of the Therapeutic Target IL-13

    NARCIS (Netherlands)

    Urbach, Carole; Gordon, Nathaniel C; Strickland, Ian; Lowne, David; Joberty-Candotti, Cathy; May, Richard; Herath, Athula; Hijnen, DirkJan; Thijs, Judith L; Bruijnzeel-Koomen, Carla A; Minter, Ralph R; Hollfelder, Florian; Jermutus, Lutz

    2015-01-01

    The practical realization of disease modulation by catalytic degradation of a therapeutic target protein suffers from the difficulty to identify candidate proteases, or to engineer their specificity. We identified 23 measurable, specific, and new protease activities using combinatorial screening of

  1. 血清学、系统超声及其联合应用在产前三种出生缺陷筛查中的效能比较研究%A comparative study of serological effectiveness,system of ultrasonic and combined screening in prenatal screening of three kinds of ;birth defects

    Institute of Scientific and Technical Information of China (English)

    宋丹琳; 王英兰; 郑静; 熊奕; 霍梅

    2016-01-01

    形,筛查以唐氏综合征、18-三体综合征为主的染色体疾病的有效方法之一。系统超声筛查效能高于单一血清学筛查,联合筛查效能高于单一血清学筛查,以血清学筛查为基础,联合超声筛查,可以提高产前筛查准确率。中孕期系统超声筛查能诊断大部分胎儿结构畸形,降低出生缺陷。同时超声筛查发现的一些结构异常可以提示胎儿染色体异常,中孕期超声筛查对于18-三体有较高的提示作用。%Objective To compare the efficiency of serum screening,ultrasound screening and the combination of both in the screening of chromosomal disorders including Down syndrome and trisomy 18,in order to reduce the incidence of birth defects,as well as to provide a scientific foundation for the effective implementation of prenatal screening. Methods 38 165 singleton pregnancies between 15 and 20 weeksˊgestation who carried out prenatal screening during November 2013 to November 2014 were retrospectively studied. 2 ml of venous blood were used to detect the concentration of freeβ-human chorionic gonadotropin(fHCG),α-fetoprotein(AFP)and /or estriol(uE3). The risk value of Downˊs syn-drome,trisomy 18 syndrome and neural tube defects were caculated by using algorithms,and Pregnancies with high risk of Downˊs syndrome or tri-somy 18 who signed informed consent would underwent karyotypeanalysis. 10 727 cases who performed ultrasound screening between 15 and 28weeksˊgestation were included in the study. Fetuses who were detected with abnormal ultrasound findings were considered screening positive. All utrasonography screening positive women who signed informed would underwent prenatal diagnose. Results There were 1 708 women accepted prenatal diagnose who were Down syndrome and trisomy 18 screen-positive,69 cases with abnormal fetal karyotype were found with the abnormal rate of 4. 0%,among which there were 38 cases with aneuploid,including 25 cases of 21 trisomy

  2. Prenatal exposure to persistent organochlorine pollutants is associated with high insulin levels in 5-year-old girls

    DEFF Research Database (Denmark)

    Tang-Péronard, Jeanett L.; Heitmann, Berit L.; Jensen, Tina K.

    2015-01-01

    BACKGROUND: Several persistent organochlorine pollutants (POPs) possess endocrine disrupting abilities, thereby potentially leading to an increased risk of obesity and metabolic diseases, especially if the exposure occurs during prenatal life. We have previously found associations between prenatal...

  3. Application and Influences of Prenatal Screening for Hepatitis B Virus Surface Antigen among Pregnant Women in Poverty Areas%贫困地区孕产妇乙型肝炎病毒表面抗原筛查服务利用现状及影响因素研究

    Institute of Scientific and Technical Information of China (English)

    孙校金; 余文; 速存芬; 钱晏飞; 杨政; 莫峰; 梁晓峰; 崔富强; 王富珍; 陈园生; 郑徽; 吴振华; 缪宁; 马汉平; 罗梅

    2011-01-01

    Objective To understand of application and influences of prenatal screening for hepatitis B virus surface antigen (HBsAg) among pregnant women in poverty areas. Methods 493 women who delivery babies during January 1, 2009 and December 31, 2010 were investigated in Fuyuan county of Yunnan province. Results The prenatal screening rate for HBsAg was 78.3%, and the influences were the residence, the place of delivery, the attitude of the willngness to screen for HBsAg paying by themselves. Conclusion The application of prenatal screening for HBsAg was still low in the poverty areas. In order to control the perinatal transmission of HBV, health promotion and prenatal screening for HBsAg should be strengthened.%目的 了解贫困地区孕产妇对乙型肝炎病毒表面抗原(Hepatitis B Virus Surface Antigen,HBsAg)筛查服务的利用情况及影响因素.方法 在云南省富源县,对493名于2009年1月1日~2010年12月31日分娩的孕产妇,进行HBsAg筛查服务利用情况的调查.结果 孕产妇HBsAg筛查率为78.3%,孕产妇的居住地、分娩地点、是否愿意自费做筛查的态度,是影响孕产妇利用产前HBsAg筛查服务的因素.结论 贫困地区孕产妇对产前HBsAg筛查服务的利用还有待提高,有必要通过提高筛查服务的可及性和加强宣传,促进孕产妇对产前HBsAg筛查服务的利用.

  4. Prenatal Risk Calculation (PRC) 3.0: An Extended DoE-Based First-Trimester Screening Algorithm Allowing For Early Blood Sampling

    Science.gov (United States)

    Merz, E.; Thode, C.; Eiben, B.; Wellek, S.

    2016-01-01

    Aim: Both previous versions of the German PRC algorithm developed by our group for routine first-trimester screening relied on the assumption that maternal blood sampling and fetal ultrasonography are performed at the same visit of a pregnant women. In this paper we present an extension of our method allowing also for constellations where this synchronization is abandoned through preponing blood sampling to dates before 11 weeks of gestation. Methods: In contrast to the directly measured concentrations of the serum parameters PAPP-A and free ß-hCG, the logarithmically transformed values could be shown to admit the construction of reference bands covering the whole range from 16 to 84 mm CRL [corresponding to 63 to 98 days of gestation]. Prior to determining reference limits from which the DoEs for each individual patient had to be calculated, the log concentrations of all PAPP-A and free ß-hCG values were transformed once more using the calibration approach established in 1 for the elimination of the influence of maternal weight. Results: Although that part of the database which was available for estimating the reference bands for blood sampling times prior to 11 weeks of gestation was comparatively sparse (898 out of 186 215 pregnancies with euploid outcome), the key statistical characteristics of the extended risk-calculation procedure turned out to be very satisfactory. Using the same cutoff value of 1:150 for the posterior risks of trisomy 21 and 13/18, the overall FPR (false positive rate) for diagnosing a T21 was found to be 3.42%. The corresponding DTR (detection rate) was obtained to be 86.8% and thus exceeded the DTR attained by PRC 2.0 for trisomy 21. For trisomies 13 and 18, the proportions of patients with calculated posterior risks exceeding the cutoff value of 1:150 were obtained to be 1.60% (=FPR) and 86.4% (=DTR). Conclusion: Transforming the measured concentrations of PAPP-A and free ß-hCG to the logarithmic scale allows one to extend the Do

  5. Avaliação da aplicação do protocolo de triagem pré-natal para toxoplasmose em Belo Horizonte, Minas Gerais, Brasil: estudo transversal em puérperas de duas maternidades Evaluation of prenatal screening for toxoplasmosis in Belo Horizonte, Minas Gerais State, Brazil: a cross-sectional study of postpartum women in two maternity hospitals

    Directory of Open Access Journals (Sweden)

    Ericka Viana Machado Carellos

    2008-02-01

    Full Text Available Foi realizado estudo transversal, em duas maternidades públicas de Belo Horizonte, Minas Gerais, Brasil, com entrevista de 420 puérperas, de agosto de 2004 a maio de 2005, para avaliar a aplicação do protocolo de triagem pré-natal para toxoplasmose implantado, e as orientações oferecidas às gestantes suscetíveis. A cobertura do pré-natal foi de 98%, e da primeira triagem sorológica de 97%. O início do pré-natal e a realização da primeira sorologia ocorreram em média com 16 semanas. Foram identificadas 163 gestantes suscetíveis à toxoplasmose: 44% não repetiram a sorologia, e 42% alegaram não ter recebido orientações para prevenção da toxoplasmose. O início precoce do pré-natal e um maior número de consultas foram associados à repetição da sorologia e ao recebimento de orientações. As informações oferecidas foram: evitar contato com gatos (95%, não ingerir ou manipular carne crua (70% e lavar cuidadosamente as hortaliças (53%. Concluiu-se que a adesão inadequada ao protocolo de triagem pré-natal de toxoplasmose encontrada no estudo pode gerar gastos financeiros sem melhoria na qualidade do cuidado perinatal.This cross-sectional study of 420 women in two public maternity hospitals from August 2004 to May 2005 evaluated the application of a prenatal toxoplasmosis serological screening protocol in Belo Horizonte, Minas Gerais State, Brazil, and the information provided to susceptible pregnant women. Ninety-eight percent of women received prenatal care and 97% underwent the initial serological screening test, at an average of 16 weeks gestational age. The initial testing identified 163 women as susceptible to toxoplasmosis: 44% of these did not undergo repeat serological testing, and 42% of them did not remember having received information on the prevention of toxoplasmosis infection. Early prenatal care and a high number of prenatal visits were associated with repeat serological testing and orientation regarding

  6. Prenatal exercise research.

    Science.gov (United States)

    Field, Tiffany

    2012-06-01

    In this review of recent research on prenatal exercise, studies from several different countries suggest that only approximately 40% of pregnant women exercise, even though about 92% are encouraged by their physicians to exercise, albeit with some 69% of the women being advised to limit their exercise. A moderate exercise regime reputedly increases infant birthweight to within the normal range, but only if exercise is decreased in late pregnancy. Lower intensity exercise such as water aerobics has decreased low back pain more than land-based physical exercise. Heart rate and blood pressure have been lower following yoga than walking, and complications like pregnancy-induced hypertension with associated intrauterine growth retardation and prematurity have been less frequent following yoga. No studies could be found on tai chi with pregnant women even though balance and the risk of falling are great concerns during pregnancy, and tai chi is one of the most effective forms of exercise for balance. Potential underlying mechanisms for exercise effects are that stimulating pressure receptors during exercise increases vagal activity which, in turn, decreases cortisol, increases serotonin and decreases substance P, leading to decreased pain. Decreased cortisol is particularly important inasmuch as cortisol negatively affects immune function and is a significant predictor of prematurity. Larger, more controlled trials are needed before recommendations can be made about the type and amount of pregnancy exercise.

  7. HAMS: High-Affinity Mass Spectrometry Screening. A High-Throughput Screening Method for Identifying the Tightest-Binding Lead Compounds for Target Proteins with No False Positive Identifications

    Science.gov (United States)

    Imaduwage, Kasun P.; Go, Eden P.; Zhu, Zhikai; Desaire, Heather

    2016-09-01

    A major challenge in drug discovery is the identification of high affinity lead compounds that bind a particular target protein; these leads are typically identified by high throughput screens. Mass spectrometry has become a detection method of choice in drug screening assays because the target and the ligand need not be modified. Label-free assays are advantageous because they can be developed more rapidly than assays requiring labels, and they eliminate the risk of the label interfering with the binding event. However, in commonly used MS-based screening methods, detection of false positives is a major challenge. Here, we describe a detection strategy designed to eliminate false positives. In this approach, the protein and the ligands are incubated together, and the non-binders are separated for detection. Hits (protein binders) are not detectable by MS after incubation with the protein, but readily identifiable by MS when the target protein is not present in the incubation media. The assay was demonstrated using three different proteins and hundreds of non-inhibitors; no false positive hits were identified in any experiment. The assay can be tuned to select for ligands of a particular binding affinity by varying the quantity of protein used and the immobilization method. As examples, the method selectively detected inhibitors that have Ki values of 0.2 μM, 50 pM, and 700 pM. These findings demonstrate that the approach described here compares favorably with traditional MS-based screening methods.

  8. HAMS: High-Affinity Mass Spectrometry Screening. A High-Throughput Screening Method for Identifying the Tightest-Binding Lead Compounds for Target Proteins with No False Positive Identifications

    Science.gov (United States)

    Imaduwage, Kasun P.; Go, Eden P.; Zhu, Zhikai; Desaire, Heather

    2016-11-01

    A major challenge in drug discovery is the identification of high affinity lead compounds that bind a particular target protein; these leads are typically identified by high throughput screens. Mass spectrometry has become a detection method of choice in drug screening assays because the target and the ligand need not be modified. Label-free assays are advantageous because they can be developed more rapidly than assays requiring labels, and they eliminate the risk of the label interfering with the binding event. However, in commonly used MS-based screening methods, detection of false positives is a major challenge. Here, we describe a detection strategy designed to eliminate false positives. In this approach, the protein and the ligands are incubated together, and the non-binders are separated for detection. Hits (protein binders) are not detectable by MS after incubation with the protein, but readily identifiable by MS when the target protein is not present in the incubation media. The assay was demonstrated using three different proteins and hundreds of non-inhibitors; no false positive hits were identified in any experiment. The assay can be tuned to select for ligands of a particular binding affinity by varying the quantity of protein used and the immobilization method. As examples, the method selectively detected inhibitors that have Ki values of 0.2 μM, 50 pM, and 700 pM. These findings demonstrate that the approach described here compares favorably with traditional MS-based screening methods.

  9. Group B Streptococcus: compliance with the information in prenatal card records and knowledge of pregnant women.

    Science.gov (United States)

    de Mello, Débora Silva; Tsunechiro, Maria Alice; Mendelski, Caroline Ataíde; Pierre, Sandra Abib; Silva, Atalanta Ruiz; Padoveze, Maria Clara

    2015-04-01

    This study aimed to determine the rate of compliance on prenatal cards and the women's knowledge and feelings regarding Group B Streptococcus (GBS) screening in a maternity ward in São Paulo City, Brazil. Structured interviews and a review of prenatal card records of 391 women were performed. The GBS screening was not recorded in more than half of prenatal cards (51.4%, n = 201); 169 women reported no knowledge or not remembering the GBS screening. Copyright © 2015 Association for Professionals in Infection Control and Epidemiology, Inc. Published by Elsevier Inc. All rights reserved.

  10. The application of second trimester maternal serum in prenatal screening for Down 's syndrome%孕中期母血清标记物在唐氏综合征产前筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    谢晓媛; 张颖; 崔岚; 辛力; 岳胜

    2011-01-01

    目的:探讨妊娠中期血清标记物甲胎蛋白(AFP)和人绒毛膜促性腺激素游离β亚基(Free-β-HCG)在妊娠中期唐氏综合征产前筛查中的应用价值.方法:应用时间分辨免疫荧光法对天津市2009年1月~2010年1月75 876例孕15~20+6周妇女进行血清AFP和Free-β-HCG含量检测,结合年龄、孕周、单双胎、体质量、既往异常妊娠史、有无糖尿病、吸烟史等因素,通过Life Cycle 3.0版软件进行风险率评估,对高风险妊娠妇女进行遗传咨询,在知情同意的情况下进行羊膜腔穿刺及B超检查以确诊.结果:75 876例妊娠妇女中,筛出染色体异常高风险妊娠妇女4 241例,其中1 036例接受羊膜腔穿刺产前诊断,发现唐氏综合征(DS) 16例、18-三体综合征2例、其他胎儿染色体异常9例;27例中有18例<35岁;建立了该地区妊娠中期两项筛查指标的中位数值.DS胎儿母亲血中AFP水平较正常孕妇女降低,Free-β-HCG水平增加;18-三体胎儿的母亲血中AFP和Free-β-HCG水平均降低.结论:不能以年龄作为筛查DS的唯一指标,孕中期母体血清AFP、Free-β-HCG联合检测可能是预测胎儿染色体畸形的有效指标,经产前诊断及时采取措施,能降低出生缺陷,对优生工作具有重要意义.%Objective; To explore the application of second trimester maternal serum marker, alpha - fetoprotein (AFP) and free -β - human chorionic gonadotropin ( Free - β - HCG) , in prenatal screening for Downs syndrome ( DS) . Methods: From January, 2009 to January, 2010. 75 876 pregnant women at 15 through 20 +6 weeks of gestation were received in Tianjin, and alpha - fetoprotein and free -β - human chorionic gonadotropin of them were measured by time - resolved fluoroimmunoassay. Then the risk of DS was evaluated by use of statistical software life Cycle 3. 0 combined with age, gestational weeks, weight, always unusually gravid history, without diabetic, smoking history and other factors

  11. Prenatal Diagnosis of Chronic Granulomatous Disease in a Male Fetus

    Directory of Open Access Journals (Sweden)

    Yavuz Köker m

    2009-03-01

    Full Text Available Mutations in any of four known NADPH-oxidase components lead to CGD. X-linked CGD (X-CGD is caused by defects in CYBB, the gene that encodes gp91-phox. Autosomal recessive (AR CGD is caused by defects in the genes for p47 phox, p22-phox or p67-phox. The aim of this study was to screen the molecular defect in the fetus of an X-CGD carrier mother and postnatal confirmation of the results. In a family whose first-born child died from X-CGD, fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS. Direct sequencing was used to detect the previously identified CYBB gene mutation. The NADPH oxidase activity in the neutrophils from the carrier mother and from the newborn was analyzed by the DHR assay. Our studies predicted that the fetus in question was not affected by chronic granulomatous disease, which was demonstrated to be correct at birth. For prenatal screening in a pregnant X-CGD carrier, direct sequencing is a good method for detecting the mutation in the fetal DNA. Postnatal confirmation of results with the DHR assay is more practical than mutation screening to show whether the newborn have normal NADPH oxidase activity or does not.

  12. Simulating henipavirus multicycle replication in a screening assay leads to identification of a promising candidate for therapy.

    Science.gov (United States)

    Porotto, Matteo; Orefice, Gianmarco; Yokoyama, Christine C; Mungall, Bruce A; Realubit, Ronald; Sganga, Michael L; Aljofan, Mohamad; Whitt, Michael; Glickman, Fraser; Moscona, Anne

    2009-05-01

    Nipah (NiV) and Hendra (HeV) viruses are emerging zoonotic paramyxoviruses that cause encephalitis in humans, with fatality rates of up to 75%. We designed a new high-throughput screening (HTS) assay for inhibitors of infection based on envelope glycoprotein pseudotypes. The assay simulates multicycle replication and thus identifies inhibitors that target several stages of the viral life cycle, but it still can be carried out under biosafety level 2 (BSL-2) conditions. These features permit a screen for antivirals for emerging viruses and select agents that otherwise would require BSL-4 HTS facilities. The screening of a small compound library identified several effective molecules, including the well-known compound chloroquine, as highly active inhibitors of pseudotyped virus infection. Chloroquine inhibited infection with live HeV and NiV at a concentration of 1 microM in vitro (50% inhibitory concentration, 2 microM), which is less than the plasma concentrations present in humans receiving chloroquine treatment for malaria. The mechanism for chloroquine's antiviral action likely is the inhibition of cathepsin L, a cellular enzyme that is essential for the processing of the viral fusion glycoprotein and the maturation of newly budding virions. Without this processing step, virions are not infectious. The identification of a compound that inhibits a known cellular target that is important for viral maturation but that had not previously been shown to have antiviral activity for henipaviruses highlights the validity of this new screening assay. Given the established safety profile and broad experience with chloroquine in humans, the results described here provide an option for treating individuals infected by these deadly viruses.

  13. In silico-screening approaches for lead generation: identification of novel allosteric modulators of human-erythrocyte pyruvate kinase.

    Science.gov (United States)

    Tripathi, Ashutosh; Safo, Martin K

    2012-01-01

    Identification of allosteric binding site modulators have gained increased attention lately for their potential to be developed as selective agents with a novel chemotype and targeting perhaps a new and unique binding site with probable fewer side effects. Erythrocyte pyruvate kinase (R-PK) is an important glycolytic enzyme that can be pharmacologically modulated through its allosteric effectors for the treatment of hemolytic anemia, sickle-cell anemia, hypoxia-related diseases, and other disorders arising from erythrocyte PK malfunction. An in-silico screening approach was applied to identify novel allosteric modulators of pyruvate kinase. A small-molecules database of the National Cancer Institute (NCI), was virtually screened based on structure/ligand-based pharmacophore. The virtual screening campaign led to the identification of several compounds with similar pharmacophoric features as fructose-1,6-bisphosphate (FBP), the natural allosteric activator of the kinase. The compounds were subsequently docked into the FBP-binding site using the programs FlexX and GOLD, and their interactions with the protein were analyzed with the energy-scoring function of HINT. Seven promising candidates were obtained from the NCI and subjected to kinetics analysis, which revealed both activators and inhibitors of the R-isozyme of PK (R-PK).

  14. Prenatal detection of transposition of the great arteries reduces mortality and morbidity

    NARCIS (Netherlands)

    van Velzen, C. L.; Haak, M. C.; Reijnders, G.; Rijlaarsdam, M. E. B.; Bax, C. J.; Pajkrt, E.; Hruda, J.; Galindo-Garre, F.; Bilardo, C. M.; de Groot, C. J. M.; Blom, N. A.; Clur, S. A.

    2015-01-01

    Objectives To evaluate the prenatal detection of transposition of the great arteries (TGA), after the introduction of a Dutch screening program in 2007, as well as the effect of prenatal detection on pre- and postsurgical mortality and morbidity. Methods In a geographical cohort study, all infants w

  15. Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009

    NARCIS (Netherlands)

    Lichtenbelt, Klaske D.; Alizadeh, Behrooz Z.; Scheffer, Peter G.; Stoutenbeek, Philip; Schielen, Peter C. J. I.; Page-Christiaens, Lieve C. M. L.; Schuring-Blom, G. Heleen

    Objective To analyze trends in the number and type of invasive procedure, reasons for referral, maternal age and chromosomal abnormalities over a 10-year period and correlate the trends to changes in the national prenatal screening policy. Methods Data from 10 706 invasive prenatal procedures

  16. Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009

    NARCIS (Netherlands)

    Lichtenbelt, Klaske D.; Alizadeh, Behrooz Z.; Scheffer, Peter G.; Stoutenbeek, Philip; Schielen, Peter C. J. I.; Page-Christiaens, Lieve C. M. L.; Schuring-Blom, G. Heleen

    2011-01-01

    Objective To analyze trends in the number and type of invasive procedure, reasons for referral, maternal age and chromosomal abnormalities over a 10-year period and correlate the trends to changes in the national prenatal screening policy. Methods Data from 10 706 invasive prenatal procedures yieldi

  17. A QSAR approach for virtual screening of lead-like molecules en route to antitumor and antibiotic drugs from marine and microbial natural products

    Directory of Open Access Journals (Sweden)

    Florbela Pereira

    2014-05-01

    Figure 1. The unreported 15 lead antibiotic MNPs and MbNPs from AntiMarin database, using the best Rfs antibiotic model with a probability of being antibiotic greater than or equal to 0.8. Figure 2. The selected 4 lead antitumor MNPs and MbNPs from the AntiMarin database, using the best Rfs antitumor model with a probability of being antitumor greater than or equal to 0.8. The present work corroborates by one side the results of our previous work6 and enables the presentation of a new set of possible lead like bioactive compounds. Additionally, it is shown the usefulness of quantum-chemical descriptors in the discrimination of biological active and inactive compounds. The use of the εHOMO quantum-chemical descriptor in the discrimination of large scale data sets of lead-like or drug-like compounds has never been reported. This approach results in the reduction, in great extent, of the number of compounds used in real screens, and it reinforces the results of our previous work. Furthermore, besides the virtual screening, the computational methods can be very useful to build appropriate databases, allowing for effective shortcuts of NP extracts dereplication procedures, which will certainly result in increasing the efficiency of drug discovery.

  18. Cystic Fibrosis: Prenatal Screening and Diagnosis

    Science.gov (United States)

    ... other disorders are chorionic villus sampling (CVS) and amniocentesis (see FAQ164 "Diagnostic Tests for Birth Defects" ). CVS ... be performed after 9 completed weeks of pregnancy. Amniocentesis can be performed between 15 weeks and 20 ...

  19. Determination of Zinc, Cadmium, Lead, Copper and Silver Using a Carbon Paste Electrode and a Screen Printed Electrode Modified with Chromium(III Oxide

    Directory of Open Access Journals (Sweden)

    Zuzana Koudelkova

    2017-08-01

    Full Text Available In this study, the preparation and electrochemical application of a chromium(III oxide modified carbon paste electrode (Cr-CPE and a screen printed electrode (SPE, made from the same material and optimized for the simple, cheap and sensitive simultaneous determination of zinc, cadmium, lead, copper and the detection of silver ions, is described. The limits of detection and quantification were 25 and 80 µg·L−1 for Zn(II, 3 and 10 µg·L−1 for Cd(II, 3 and 10 µg·L−1 for Pb(II, 3 and 10 µg·L−1 for Cu(II, and 3 and 10 µg·L−1 for Ag(I, respectively. Furthermore, this promising modification was transferred to the screen-printed electrode. The limits of detection for the simultaneous determination of zinc, cadmium, copper and lead on the screen printed electrodes were found to be 350 µg·L−1 for Zn(II, 25 µg·L−1 for Cd(II, 3 µg·L−1 for Pb(II and 3 µg·L−1 for Cu(II. Practical usability for the simultaneous detection of these heavy metal ions by the Cr-CPE was also demonstrated in the analyses of wastewaters.

  20. Prenatal serum screening among pregnant women at second-trimester in Taizhou region%台州地区孕妇孕中期母血清产前筛查结果分析

    Institute of Scientific and Technical Information of China (English)

    石卫武; 干灵红; 章鸯; 徐丹萍; 陈雪娇; 章卫国; 戴美珍; 周美英

    2013-01-01

    Objective To investigate the clinical value of second trimester maternal serum screening for Down's syndrome(DS) ,18-trisomy syndrome,and neural tube defects(NTD). Methods The serum markers(alpha-fetoprotein [AFP] and beta human chroionic gonadotrophin[ β-HCG]) were detected in 120 309 pregnant women at second trimes-ter( 15 -21 weeks) with time-resolved fluorescence immunoassay (DELFTA). The detection data were analyzed with Lifecycle 3. 0 software. Results There were 5 022 pregnant women identified as at high-risk, with a positive rate of 4. 17% . Amniotic fluid or umbilical cord blood puncture was conducted among 79. 51% of the women with high risk of DS and 18-trisomy syndrome(3 573/4 494). There were 49(1. 37% ) cases of abnormal fetal karyotype, 22 cases of DS,6 cases of 18-trisomy syndrome,and 21 cases of other abnormal karyotype. In high-risk pregnant women who were younger or older than 35 years,the abnormal karyotype detection rate was 1. 37% . Conclusion Second trimester maternal serum markers( AFP and (3-HCG) detection is efficient in prenatal screening for DS,18-trisomy syndrome,and NTD.%目的 探讨孕中期母血清产前筛查系统对唐氏综合征(DS)和18-三体综合征及神经管畸形(NTD)检出的临床应用价值.方法 应用时间分辨荧光免疫分析技术(DELFIA)对120 309名孕中期(15 ~21周)孕妇进行血清标记物甲胎蛋白+游离人绒毛膜促性腺激素(AFP+ free β-HCG)两联指标检测,筛查结果应用Lifecycle3.0软件进行出生缺陷风险评估.结果 120 309名孕中期孕妇筛查出高风险孕妇5 022例,阳性率为4.17%;4 494例21-三体综合征和18-三体综合征高风险孕妇中有3 573例接受羊水或脐血穿刺产前诊断,占79.51%,发现胎儿核型异常49例,异常检出率为1.37%,其中DS 22例、18-三体综合征6例、其他异常核型21例.结论 孕中期母血清标记物两联指标的产前筛查是预测DS和18-三体综合征、NTD的有效指标.

  1. Significance evaluation of thyroid stimulating hormone in prenatal screening%早孕期孕妇促甲状腺激素检测临床意义研究

    Institute of Scientific and Technical Information of China (English)

    黄之虎; 黄翠波; 黄小明; 贾绍府

    2014-01-01

    目的:探讨孕21-三体综合征胎儿、孕18-三体综合征胎儿和孕健康胎儿孕妇早孕期血清促甲状腺激素(TSH)水平和游离β-人绒毛膜促性腺激素(β-hCG)之间的关系,评价TSH用于早孕期产前筛查的临床价值。方法分别比较26例孕21-三体综合征胎儿、19例孕18-三体综合征胎儿和6782例孕健康胎儿孕妇孕11~13周时的血清TSH和游离β-hCG水平。结果孕21-三体综合征胎儿孕妇血清 TSH 水平较低(0.72±0.31MoM),而孕18-三体综合征胎儿孕妇血清TSH水平较高(1.48±0.57 MoM)。孕健康胎儿孕妇血清TSH和游离β-hCG水平具有负相关性(r=-0.214,P<0.05),但在孕染色体非整倍体胎儿孕妇体内,二者无相关性(孕21-三体综合征胎儿孕妇:r=-0.157,P>0.05;孕18-三体综合征胎儿孕妇:r=-0.176,P>0.05)。结论早孕期筛查 TSH 并不能有效提高21-三体综合征胎儿和18-三体综合征胎儿的检出率。%Objective To explore the relationship between thyroid stimulating hormone (TSH)and freeβ-hu-man chorionic gonadotropin (β-hCG)in maternal serum of trisomy 2 1 ,trisomy 1 8 and euploid pregnancies at 1 1-1 3 weeks and evaluate the potential value of TSH in first-trimester prenatal screening.Methods Maternal serum levels of TSH and freeβ-hCG at 11-13 weeks in 26 cases of trisomy 21 and 19 cases of trisomy 18 pregnancies were com-pared with levels in 6 782 cases of unaffected pregnancies.Results The trisomy 21 pregnancies were with lower ma-ternal serum levels of TSH (0.72±0.31 MoM)and the trisomy 18 pregnancies were with higher maternal serum levels of TSH (1.48 ±0.57 MoM).There were significant associations between TSH and freeβ-hCG in the unaf-fected pregnancies (r=-0.214,P0.05)or trisomy 18 (r=-0.176,P>0.05).Conclusion Measurement of TSH could not improve the performance of screening for tri-somy 21 and trisomy 18.

  2. 福建省莆田地区地中海贫血的产前筛查和基因诊断研究%Prenatal Screening and Genetic Diagnosis of the Mediterranean Anemia in Putian Region, Fujian

    Institute of Scientific and Technical Information of China (English)

    林华; 俞柳敏; 林素霞; 王志萍

    2016-01-01

    目的:调查莆田地区孕妇地中海贫血基因类型及分布情况。方法对2014年1月至2015年12月在我院门诊产检的5618例孕妇进行血常规筛查,经MCV、 MCH初步筛查后,阳性指征者进行基因分析。结果5618例孕妇中,130例确诊为地中海贫血,比例为2.31%。α地中海贫血共检出5种基因型,最常见基因型为———SEA (62例),占比47.69%;—α3.7(13例),占比10.0%。β地中海贫血50例,比例为0.91%,共检出7种基因型,最常见的有IVS-II-654/N (28例)占比21.54%、 CD41-42/N (10例)占比7.69%和CD17/N (5例)占比3.84%。结论明确莆田地区地中海贫血分布规律,加强产前筛查和诊断,预防重型地中海贫血患儿出生,提高人口素质。%Objective To investigate the genotypes of Mediterranean anemia and the distribution situation of pregnant women in putian region. Methods 5 618 cases who took the pregnancy check-ups in the outpatient clinic of our hospital were filtrated based on Blood-RT. According to the result of preliminary screening of MCV and MCH, Gene analysis of cases with positive indication were un-dertaken. Results Among 5 618 cases of pregnant women, 130 cases were diagnosed with the Mediterranean anemia, accounting for 2. 31%. 5 genotypes were detected of α Mediterranean anemia, among which ———SEA (62 cases) is the most common genotype ac-counting for 47. 69%, —α3. 7 (13 cases) accounting for 10. 0%. There were 50 cases of β Mediterranean anemia, accounting for 0. 91%. A total of 7 genotypes were detected. The most common one is IVS - II - 654 / N (28 cases) accounting for 21. 54%, CD41-42 / N (10 cases) accounting for 7. 69% and CD17 / N (5 cases) accounting for 3. 84%. Conclusion Make the distribution regularities of the Mediterranean anemia in putian region clear, strengthen the prenatal screening and diagnosis, prevent the birth of infants with heavy Mediterranean anemia and improve population quality.

  3. 妊娠中期血清标记物检测在唐氏综合症产前筛查中的探讨%To investigate the serum marker pregnancy detection in prenatal screening for Down syndrome

    Institute of Scientific and Technical Information of China (English)

    袁晃堆

    2015-01-01

    Objective:To study the analysis of second trimester maternal serum marker for prenatal screening of Down's syndrome and the significance. Methods:The selection of 2012.10-2013.10 in our hospital during the application of resolution immunofluorescence assay was used to detect 2468 cases of 15-20+6 weeks pregnant women were detected serum Free-, P-HCG, AFP markers and content, combined with maternal age, gestational weeks, single twins, smoking history, body mass, whether patients with diabetes, previous factors without abnormal pregnancy history, the use of Life Cycle 3 version of the system risk assessment.Results:The 2468 cases of pregnant women, screening out the abnormal chromosome 138 cases of pregnant women with high risk pregnancy, including 34 cases of pregnant women were amniocentesis antenatal examination, diagnosis of Down syndrome (English referred to as DS) in 8 cases, 1 cases of trisomy 18-syndrome, 4 cases of other fetal chromosomal abnormalities. DS maternal fetal blood AFP, free three female alcohol content was significantly lower than that in normal pregnant women;Free-beta-HCG was significantly higher than that of normal pregnant women, the difference was statistical y significant P<0.05. Trisomy 18-fetal maternal blood AFP, free three female alcohol, Free-beta-HCG was obviously lower than that of normal pregnant women, the difference was statistical y significant P<0.05. Conclusions:The second trimester serum marker examination can be used as an important index prediction of fetal chromosomal abnormalities, and take effective measures in a timely manner through the prenatal diagnosis, can significantly reduce the birth defects, to help students work.%目的:研究分析妊娠中期血清标记物在产前筛查唐氏综合症的意义。方法:择取2012.10-2013.10期间在我院应用实践分辨免疫荧光法检测的2468例孕15-20+6周的孕妇,均进行血清Free-β-HCG、AFP标记物含量检测,并结合孕妇的年龄、孕周

  4. Alpha-Fetoprotein Detection of Hepatocellular Carcinoma Leads to a Standardized Analysis of Dynamic AFP to Improve Screening Based Detection.

    Science.gov (United States)

    Bird, Thomas G; Dimitropoulou, Polyxeni; Turner, Rebecca M; Jenks, Sara J; Cusack, Pearce; Hey, Shiying; Blunsum, Andrew; Kelly, Sarah; Sturgeon, Catharine; Hayes, Peter C; Bird, Sheila M

    2016-01-01

    Detection of hepatocellular carcinoma (HCC) through screening can improve outcomes. However, HCC surveillance remains costly, cumbersome and suboptimal. We tested whether and how serum Alpha-Fetoprotein (AFP) should be used in HCC surveillance. Record linkage, dedicated pathways for management and AFP data-storage identified i) consecutive highly characterised cases of HCC diagnosed in 2009-14 and ii) a cohort of ongoing HCC-free patients undergoing regular HCC surveillance from 2009. These two well-defined Scottish patient cohorts enabled us to test the utility of AFP surveillance. Of 304 cases of HCC diagnosed over 6 years, 42% (129) were identified by a dedicated HCC surveillance programme. Of these 129, 47% (61) had a detectable lesion first identified by screening ultrasound (US) but 38% (49) were prompted by elevated AFP. Despite pre-HCC diagnosis AFP >20kU/L being associated with poor outcome, 'AFP-detected' tumours were offered potentially curative management as frequently as 'US-detected' HCCs; and had comparable survival. Linearity of serial log10-transformed AFPs in HCC cases and in the screening 'HCC-free' cohort (n = 1509) provided indicators of high-risk AFP behaviour in HCC cases. An algorithm was devised in static mode, then tested dynamically. A case/control series in hepatitis C related disease demonstrated highly significant detection (pAFP in HCC surveillance. We show proof-of-principle that an automated and further refine-able algorithmic interpretation of AFP can identify patients at higher risk of HCC. This approach could provide a cost-effective, user-friendly and much needed addition to US surveillance.

  5. Your First Prenatal Care Checkup

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Last reviewed: May, 2011 Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  6. Prenatal Care: Third Trimester Visits

    Science.gov (United States)

    Healthy Lifestyle Pregnancy week by week During the third trimester, prenatal care might include vaginal exams to check the baby's ... 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-care/art- ...

  7. Prenatal Care: Second Trimester Visits

    Science.gov (United States)

    Healthy Lifestyle Pregnancy week by week During the second trimester, prenatal care includes routine lab tests and measurements of your ... 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-care/art- ...

  8. Prenatal programming: adverse cardiac programming by gestational testosterone excess

    Science.gov (United States)

    Vyas, Arpita K.; Hoang, Vanessa; Padmanabhan, Vasantha; Gilbreath, Ebony; Mietelka, Kristy A.

    2016-01-01

    Adverse events during the prenatal and early postnatal period of life are associated with development of cardiovascular disease in adulthood. Prenatal exposure to excess testosterone (T) in sheep induces adverse reproductive and metabolic programming leading to polycystic ovarian syndrome, insulin resistance and hypertension in the female offspring. We hypothesized that prenatal T excess disrupts insulin signaling in the cardiac left ventricle leading to adverse cardiac programming. Left ventricular tissues were obtained from 2-year-old female sheep treated prenatally with T or oil (control) from days 30–90 of gestation. Molecular markers of insulin signaling and cardiac hypertrophy were analyzed. Prenatal T excess increased the gene expression of molecular markers involved in insulin signaling and those associated with cardiac hypertrophy and stress including insulin receptor substrate-1 (IRS-1), phosphatidyl inositol-3 kinase (PI3K), Mammalian target of rapamycin complex 1 (mTORC1), nuclear factor of activated T cells –c3 (NFATc3), and brain natriuretic peptide (BNP) compared to controls. Furthermore, prenatal T excess increased the phosphorylation of PI3K, AKT and mTOR. Myocardial disarray (multifocal) and increase in cardiomyocyte diameter was evident on histological investigation in T-treated females. These findings support adverse left ventricular remodeling by prenatal T excess. PMID:27328820

  9. Prenatal programming: adverse cardiac programming by gestational testosterone excess.

    Science.gov (United States)

    Vyas, Arpita K; Hoang, Vanessa; Padmanabhan, Vasantha; Gilbreath, Ebony; Mietelka, Kristy A

    2016-06-22

    Adverse events during the prenatal and early postnatal period of life are associated with development of cardiovascular disease in adulthood. Prenatal exposure to excess testosterone (T) in sheep induces adverse reproductive and metabolic programming leading to polycystic ovarian syndrome, insulin resistance and hypertension in the female offspring. We hypothesized that prenatal T excess disrupts insulin signaling in the cardiac left ventricle leading to adverse cardiac programming. Left ventricular tissues were obtained from 2-year-old female sheep treated prenatally with T or oil (control) from days 30-90 of gestation. Molecular markers of insulin signaling and cardiac hypertrophy were analyzed. Prenatal T excess increased the gene expression of molecular markers involved in insulin signaling and those associated with cardiac hypertrophy and stress including insulin receptor substrate-1 (IRS-1), phosphatidyl inositol-3 kinase (PI3K), Mammalian target of rapamycin complex 1 (mTORC1), nuclear factor of activated T cells -c3 (NFATc3), and brain natriuretic peptide (BNP) compared to controls. Furthermore, prenatal T excess increased the phosphorylation of PI3K, AKT and mTOR. Myocardial disarray (multifocal) and increase in cardiomyocyte diameter was evident on histological investigation in T-treated females. These findings support adverse left ventricular remodeling by prenatal T excess.

  10. Infección prenatal

    OpenAIRE

    Pastor Durán, Xavier

    1986-01-01

    Protocolos terapeuticos. Infección prenatal. Riesgo de infección prenatal. La infección prenatal requiere un alto índice de sospecha, ya que no siempre, los antecedentes se hallan presentes bien porque faltan o bien porque hayan pasado desapercibidos. Dentro del concepto de infección prenatal se encuentran las englobadas en el acrónimo Torches (toxoplasmosis, rubeola, citomegalovirosis, herpes o sífilis) )...

  11. 彩色多普勒超声在非高危胎儿产前心脏筛查中的临床价值%Clinical value of color Doppler ultrasound in prenatal cardiac screening of non-high risk fetus

    Institute of Scientific and Technical Information of China (English)

    彭雪芳; 余卫国; 杨淑君

    2013-01-01

    Objective To investigate the clinical diagnostic value of color Doppler ultrasound in prenatal cardiac screening of non-high risk fetus, so as to reduce the birth rate of neonate with congenital heart disease and peri-neonate mortality as much as possible.Methods The clinical materials of 3780 non-high risk fetus in gestational period of 18-24 weeks monitored in the 421st Hospital of PLA from July 2009 to December 2011 were retrospectively analyzed.These fetuses were screened by combination of left and right ventricular outflow tract section, and four-chamber heart section methods.Results Confirmed by induced labor fetus autopsy and post-natal follow-up, 26 fetus with congenital heart disease were founded (including 12 cases of severe congenital heart disease), the overall incidence of cardiac malformations was 6.9‰; twenty-four cases were confirmed by prenatal Doppler ultrasound screening, two cases (1 case of tetralogy of Fallot, 1 case of ventricular septal defect) were missed, prenatal ultrasound detection rate of 92.3%.Conclusion Color Doppler ultrasound can obtain satisfactory fetal heart sonographic image with clear fetal heart structure, can detect most fetal cardiac malformations, is the preferred method of prenatal screening for fetal congenital heart disease, and has important clinical value in non-high-risk prenatal fetal heart screening.%目的 探讨彩色多普勒超声在非高危胎儿产前心脏筛查中的临床诊断价值,以便尽可能地降低先天性心脏病患儿的出生率及围生儿死亡率.方法 回顾性分析2009年6月~2011年12月解放军第四二一医院联合应用左、右室流出道切面和四腔心切面法对孕18~24周的非高危胎儿进行心脏筛查的3780例临床资料.结果 经引产尸解及产后随访证实,本组共检出先天性心脏病胎儿26例(其中严重先天性脏病12例),心脏畸形的总发生率为6.9‰.24例经产前多普勒超声筛查检出,漏诊2例(法洛四联症1

  12. 孕早、中期血清标志物筛查和介入性产前诊断的临床应用与分析%Clinical application and analysis on serum markers screening during the first and second trimester of pregnancy and interventional prenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    徐两蒲; 林元; 范向群; 郑琳; 吴小青; 黄海龙; 何德钦; 李英; 林娜; 王林铄

    2011-01-01

    Objective: To explore the clinical application values of prenatal screening during the first and second trimester of pregnancy and prenatal diagnosis in preventing and reducing chromosomal diseases and congenital birth defect, further promote the increase of the work. Methods; Time - resolved immunoflourometric assay was used to detect double serum markers of pregnancy associated plasma protein A ( PAPP - A) and free β - human chorionic gonadotropin ( HCG) among the pregnant women during the first trimester of pregnancy (9-13 gestational weeks) , triple serum markers of alpha fetoprotein (AFP) , free β - HCC and unconjugated estriol among the pregnant women during the second trimester of pregnancy (15-20 gestational weeks) ; the pregnant women with high risk of prenatal screening and other high risk indications received interventional prenatal diagnosis, including fetal chromosomal analysis of villi, amniotic fluid and umbilical blood; the pregnant women with high risk of patent neural tube defect (NTD) were diagnosed definitely by color Doppler ultrasound. Results; A-mong 66 852 patients receiving prenatal serum screening, the total positive rate of high risk was 6.1%. Among 4 427 patients receiving interventional prenatal diagnosis, the abnormal rate was 5.0%. Among 324 patients with high risk of NTD who were diagnosed definitely by color Doppler ultrasound, the confirmed diagnosis rate was 8.3%. 48 patients were found with trisomy 21 syndrome, 33 patients were found with trisomy 18 syndrome, 12 patients were found with trisomy 13 syndrome, 27 patients were found with NTD and 127 patients were found with other numerical abnormalities of chromosomes and structural abnormalities of chromosomes. Among various indications of prenatal diagnosis, the detection rates of chromosomal diseases in chromosomal abnormality carriers group, trisomy 18 syndrome high risk group and B -ultrasound indicated fetal anomaly group were significantly higher than those in the other

  13. Screening and in situ synthesis using crystals of a NAD kinase lead to a potent antistaphylococcal compound.

    Science.gov (United States)

    Gelin, Muriel; Poncet-Montange, Guillaume; Assairi, Liliane; Morellato, Laurence; Huteau, Valérie; Dugué, Laurence; Dussurget, Olivier; Pochet, Sylvie; Labesse, Gilles

    2012-06-06

    Making new ligands for a given protein by in situ ligation of building blocks (or fragments) is an attractive method. However, it suffers from inherent limitations, such as the limited number of available chemical reactions and the low information content of usual chemical library deconvolution. Here, we describe a focused screening of adenosine derivatives using X-ray crystallography. We discovered an unexpected and biocompatible chemical reactivity and have simultaneously identified the mode of binding of the resulting products. We observed that the NAD kinase from Listeria monocytogenes (LmNADK1) can promote amide formation between 5'-amino-5'-deoxyadenosine and carboxylic acid groups. This unexpected reactivity allowed us to bridge in situ two adenosine derivatives to fully occupy the active NAD site. This guided the design of a close analog showing micromolar inhibition of two human pathogenic NAD kinases and potent bactericidal activity against Staphylococcus aureus in vitro.

  14. Screening of the Open Source Malaria Box Reveals an Early Lead Compound for the Treatment of Alveolar Echinococcosis.

    Science.gov (United States)

    Stadelmann, Britta; Rufener, Reto; Aeschbacher, Denise; Spiliotis, Markus; Gottstein, Bruno; Hemphill, Andrew

    2016-03-01

    The metacestode (larval) stage of the tapeworm Echinococcus multilocularis causes alveolar echinococcosis (AE), a very severe and in many cases incurable disease. To date, benzimidazoles such as albendazole and mebendazole are the only approved chemotherapeutical treatment options. Benzimidazoles inhibit metacestode proliferation, but do not act parasiticidal. Thus, benzimidazoles have to be taken a lifelong, can cause adverse side effects such as hepatotoxicity, and are ineffective in some patients. We here describe a newly developed screening cascade for the evaluation of the in vitro efficacy of new compounds that includes assessment of parasiticidal activity. The Malaria Box from Medicines for Malaria Venture (MMV), comprised of 400 commercially available chemicals that show in vitro activity against Plasmodium falciparum, was repurposed. Primary screening was carried out at 10 μM by employing the previously described PGI assay, and resulted in the identification of 24 compounds that caused physical damage in metacestodes. Seven out of these 24 drugs were also active at 1 μM. Dose-response assays revealed that only 2 compounds, namely MMV665807 and MMV665794, exhibited an EC50 value below 5 μM. Assessments using human foreskin fibroblasts and Reuber rat hepatoma cells showed that the salicylanilide MMV665807 was less toxic for these two mammalian cell lines than for metacestodes. The parasiticidal activity of MMV665807 was then confirmed using isolated germinal layer cell cultures as well as metacestode vesicles by employing viability assays, and its effect on metacestodes was morphologically evaluated by electron microscopy. However, both oral and intraperitoneal application of MMV665807 to mice experimentally infected with E. multilocularis metacestodes did not result in any reduction of the parasite load.

  15. Screening of the Open Source Malaria Box Reveals an Early Lead Compound for the Treatment of Alveolar Echinococcosis.

    Directory of Open Access Journals (Sweden)

    Britta Stadelmann

    2016-03-01

    Full Text Available The metacestode (larval stage of the tapeworm Echinococcus multilocularis causes alveolar echinococcosis (AE, a very severe and in many cases incurable disease. To date, benzimidazoles such as albendazole and mebendazole are the only approved chemotherapeutical treatment options. Benzimidazoles inhibit metacestode proliferation, but do not act parasiticidal. Thus, benzimidazoles have to be taken a lifelong, can cause adverse side effects such as hepatotoxicity, and are ineffective in some patients. We here describe a newly developed screening cascade for the evaluation of the in vitro efficacy of new compounds that includes assessment of parasiticidal activity. The Malaria Box from Medicines for Malaria Venture (MMV, comprised of 400 commercially available chemicals that show in vitro activity against Plasmodium falciparum, was repurposed. Primary screening was carried out at 10 μM by employing the previously described PGI assay, and resulted in the identification of 24 compounds that caused physical damage in metacestodes. Seven out of these 24 drugs were also active at 1 μM. Dose-response assays revealed that only 2 compounds, namely MMV665807 and MMV665794, exhibited an EC50 value below 5 μM. Assessments using human foreskin fibroblasts and Reuber rat hepatoma cells showed that the salicylanilide MMV665807 was less toxic for these two mammalian cell lines than for metacestodes. The parasiticidal activity of MMV665807 was then confirmed using isolated germinal layer cell cultures as well as metacestode vesicles by employing viability assays, and its effect on metacestodes was morphologically evaluated by electron microscopy. However, both oral and intraperitoneal application of MMV665807 to mice experimentally infected with E. multilocularis metacestodes did not result in any reduction of the parasite load.

  16. Flow injection on-line solid phase extraction for ultra-trace lead screening with hydride generation atomic fluorescence spectrometry.

    Science.gov (United States)

    Wan, Zhuo; Xu, Zhangrun; Wang, Jianhua

    2006-01-01

    A flow injection (FI) on-line solid phase extraction (SPE) procedure for ultra-trace lead separation and preconcentration was developed, followed by hydride generation and atomic fluorescence spectrometric (AFS) detection. Lead is retained on an iminodiacetate chelating resin packed microcolumn, and is afterward eluted with 2.5% (v/v) hydrochloric acid to facilitate the hydride generation by reaction with alkaline tetrahydroborate solution with 1% (m/v) potassium ferricyanide as an oxidizing (or sensitizing) reagent. The hydride was separated from the reaction medium in the gas-liquid separator and swept into the atomizer for quantification. The chemical variables and the FI flow parameters were carefully optimized. With a sample loading volume of 4.8 ml, quantitative retention of lead was obtained, along with an enrichment factor of 11.3 and a sampling frequency of 50 h(-1). A detection limit of 4 ng l(-1), defined as 3 times the blank standard deviation (3 sigma), was achieved along with a RSD value of 1.6% at the 0.4 microg l(-1) level. The procedure was validated by determining lead contents in two certified reference materials, and its practical applicability was further demonstrated by analysing a variety of biological and environmental samples.

  17. Prenatal Stress, Prematurity, and Asthma.

    Science.gov (United States)

    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C

    2015-12-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the United States and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced "premature asthma." Prenatal stress may cause not only abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring TH2 (allergic) immune responses characteristic of atopic asthma: interleukin 6 (IL-6), which has been associated with premature labor, can promote TH2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing "premature asthma." If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common comorbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (eg, from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health.

  18. Chromosomal microarray versus karyotyping for prenatal diagnosis.

    Science.gov (United States)

    Wapner, Ronald J; Martin, Christa Lese; Levy, Brynn; Ballif, Blake C; Eng, Christine M; Zachary, Julia M; Savage, Melissa; Platt, Lawrence D; Saltzman, Daniel; Grobman, William A; Klugman, Susan; Scholl, Thomas; Simpson, Joe Leigh; McCall, Kimberly; Aggarwal, Vimla S; Bunke, Brian; Nahum, Odelia; Patel, Ankita; Lamb, Allen N; Thom, Elizabeth A; Beaudet, Arthur L; Ledbetter, David H; Shaffer, Lisa G; Jackson, Laird

    2012-12-06

    Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down's syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.).

  19. Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies.

    Science.gov (United States)

    Fucharoen, S; Winichagoon, P; Thonglairoam, V; Siriboon, W; Siritanaratkul, N; Kanokpongsakdi, S; Vantanasiri, C

    1991-03-01

    In this review, we describe a simple strategy to detect the three severe thalassemic diseases commonly found in Thailand. Hb Bart's hydrops fetalis can be detected unambiguously by ultrasonography at 18-20 weeks of gestation or detected early in the first trimester by the gene amplification technique. Prenatal diagnosis for homozygous beta-thalassemia is better performed in the second trimester by in vitro protein synthesis. This is because the molecular defects of some beta-thalassemias are still unknown and homozygosity of the same mutation is low. In contrast, beta-thalassemia/Hb E is easily detected, in the first trimester, by direct visualization on electrophoresis or by dot blot analysis of enzymatically amplified DNA with a set of nonradioactively labeled oligonucleotide probes complementary to the most common mutations. We also found that the beta/gamma synthesis ratio in homozygous Hb E is similar to that of beta-thalassemia/Hb E and DNA analysis is the only method to distinguish these two conditions in the couple at risk of having either beta-thalassemia/Hb E or asymptomatic homozygous Hb E. In 100 pregnancies studied, the diagnoses were achieved in 96 pregnancies. Complications leading to fetal loss were found in 3 pregnancies: one woman developed amnionitis after fetal blood sampling; one had amniotic fluid leakage after the biopsy, and the third, carrying a normal fetus, aborted 10 days after fetal blood sampling with urinary tract infection and high fever. However, these figures are compatible with other reports and the risks are significantly lower than that of thalassemic disease the fetus is facing. One case of beta-thalassemia/Hb E was incorrectly diagnosed prenatally as being Hb E trait. In twenty-five pregnancies (25%) prenatally diagnosed to carry affected fetuses it was decided to have abortion. This study shows the feasibility of prenatal diagnosis for thalassemic diseases in Thailand which, in addition to screening and genetic counseling

  20. [Potential role of prenatal care in reducing maternal and perinatal mortality in sub-Saharan Africa].

    Science.gov (United States)

    Prual, A; De Bernis, L; El Joud, D Ould

    2002-02-01

    Prenatal care has been implemented in developing countries according to the same mode as applied in industrialized countries without considering its real effectiveness in reducing maternal and neonatal mortality. Several recent studies suggest that the goals should be revisited in order to implement a program of prenatal care based on real scientific evidence. Based on the current literature, we propose a potentially effective content for prenatal care adapted to the context of developing countries. Four antenatal consultations would be enough if appropriately timed at 12, 26, 32 and 36 weeks pregnancy. The purpose of these consultations would be: 1) to screen for three major risk factors, which, when recognized, lead to specific action: uterine, scare, malpresentation, premature rupture of the membranes; 2) to prevent and/or detect (and treat) specific complications of pregnancy: hypertension, infection (malaria, venereal disease, HIV, tetanus, urinary tract infection); anemia and trace element deficiencies, gestational diabetes mellitus; 3) to provide counseling, support and information for pregnant women and their families (including the partner) concerning: severe signs and symptoms of pregnancy and delivery, community organization of emergency transfer, delivery planning. These potentially effective actions can only have a real public health impact if implemented within an organized maternal health system with a functional network of delivery units, if truly quality care is given, and if the relationships between health care providers and the population are based on mutual respect. Sub-Saharan African women use prenatal care extensively when it is accessible; this opportunity must be used to implement evidence-based actions with appropriate and realistic goals.

  1. [Analysis of prenatal follow-up strategies for trisomy 21 affected pregnancies in France].

    Science.gov (United States)

    Dupont, J-M; Simon-Bouy, B; Zebina, A; Pessione, F; Royère, D; Doco-Fenzy, M

    2017-03-01

    The main objective of this study was to screen the prenatal follow-up of women with live birth trisomy 21 child in order to evaluate the proportion of prenatal screening failure versus cases where the women refused either the screening or the prenatal diagnosis of Down syndrome. This study covers the period of time from 2009 to 2012 when the national prenatal screening policy changed from second to first trimester and allows for a comparative assessment of the nationwide efficiency of the various maternal serum marker based strategies. All authorized cytogenetic laboratories sent required data for all cases of trisomy 21 diagnosed in FRANCE in new-borns (less than 1-year-old) from January 2010 to July 2013. A total of 1253 cases of trisomy 21 were diagnosed before 1 year of age whose mother did not had prenatal diagnosis. For 861 of them, information on the prenatal follow-up was available, with 72% of cases where a prenatal screening was organized either by maternal serum marker or by ultrasound. Results of the screening strategy was positive with maternal serum marker in 28% of cases (calculated risk≥1/250), positive because of abnormal ultrasound in 5% and negative with maternal marker screening (whatever the strategy used) in 67% of cases. Detection rate over the period of the study was 82%, with similar efficiency of first and second trimester strategies (83%) but significantly lower with sequential association of first trimester Nuchal translucency measurement and second trimester serum screening (70%). Switching from second trimester to first trimester screening strategy, with as many trisomy 21 foetuses diagnosed with half invasive procedures fulfilled national health policy objectives. Analysis of these data gives useful insights to elaborate a future screening policy involving cell-free foetal DNA sequencing. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  2. Influence of maternal weight on MoM and screening performance in second trimester prenatal triple marker screening%孕中期孕妇体重对血清指标 MoM 值和三联筛查结果的影响

    Institute of Scientific and Technical Information of China (English)

    张彬; 刘晓艳

    2014-01-01

    目的:验证复旦大学附属妇产科医院实验室对孕妇体重校正方法的有效性,并研究孕妇体重对孕中期三联筛查的影响。方法收集孕中期唐氏综合征筛查标本单妊娠28577例,采用化学发光免疫分析技术检测血清甲胎蛋白(AFP)、人绒毛膜促性腺激素β亚基(β-hCG)、和游离雌三醇(uE3)的浓度,通过回归体重校正参数,得到体重校正的 MoM值,计算唐氏综合征、爱德华氏征和神经管缺陷风险。结果最合适本实验室的体重校正模型是倒数模型,使用该校正模型,比不校正体重多检出2例21三体的检出率,检出率从65%提高到76%。结论通过体重校正消除体重对血清标志物含量的影响,进一步提高21三体检出率。各个实验室需要根据当地人群建立自己的体重公式,可以更准确报告唐氏综合征、爱德华氏征和神经管缺陷的风险度。%Objective To verify the validity of maternal weight adjustment,and to study the influence of maternal weight adjustment on second trimester prenatal triple marker screening in the Obstetrics and Gynecology Hospital of Fudan University.Methods A total of 28 577 second trimester pregnant women were enrolled,and their serum samples were determined by chemiluminescence immunoassay for Down syndrome second trimester prenatal screening with triple markers,alpha fetoprotein (AFP),beta subunit of human chorionic gonadotropin (β-hCG)and unconjugated estriol (uE3).After regressing the maternal weight adjustment parameters,the MoMof maternal weight adjustment was obtained, and the risks of Down syndrome,Edward syndrome and open neural tube disease were calculated.Results Reciprocal-linear was the best fitting model.The reciprocal-linear model detected 2 cases of Down syndrome,thus the detection rate increased from 65% to 76%,comparing to that of no maternal weight adjustment.Conclusions Maternal weight adjustment can increase the

  3. 四维彩超在胎儿先天性畸形中的临床诊断价值%Four-dimensional color Doppler ultrasound in examination in prenatal screening of fetal malformation

    Institute of Scientific and Technical Information of China (English)

    罗妙云

    2014-01-01

    目的 探讨四维彩超在胎儿先天性畸形中的诊断价值.方法 随机观察我院2012年1月至2014年1月孕中晚期孕妇1200例产前常规超声检查结果,所有孕妇均进行了二维超声和四维超声检查,并随访至产后1个月,比较二维超声和四维超声诊断胎儿先天性畸形的准确性.结果 经产后临床证实,共发现先天性胎儿畸形34例,其中神经管畸形10例,心脏畸形8例,唇腭裂7例,泌尿系畸形3例,四肢畸形3例,腹部畸形1例,其他2例.四维超声检出畸形31例,与产后符合率91.17%;漏诊3例,其中多指畸形1例,脊柱裂2例.二维超声检出畸形26例,符合率76.47%;漏诊8例,其中唇腭裂2例,多指畸形2例,脊柱裂3例,足内翻1例.二维和四维超声的诊断符合率比较差异具有统计学意义(P<0.05).结论 四维超声更能多方位、多切面观察胎儿宫内发育情况,对诊断胎儿体表畸形具有更直观和准确的判断,具有较高的临床价值.%Objective To investigate the diagnostic value of four-dimensional (4D) color Doppler ultrasound examination in prenatal screening of fetal malformation.Methods 1200 pregnant women were observed and detected by four-dimensional color Doppler and two dimensional ultrasound.The results were compared with the results confirmed by clinical pathology.Results 34 cases were detected with congenital defects; among which,10 got defects in nervous system,8 heart deformity,7 cheilopalatognathus,3 urinary tract malformation,3 limb deformity,1 abdominal deformity,and the other 2 cases.31 cases were detected with deformity by four-dimensional color Doppler,with a postpartum coincidence rate of 91.17%; and 3 cases were misdiagnosed,of which 1 case had polydactyly deformity and 2 cases spina bifida.26 cases were detected with deformity by two-dimensional ultrasony,with a postpartum coincidence rate of 76.47%; and 8 cases were misdiagnosed,of which 2 cases had cleft lip and palate,2 case polydactyly

  4. Lead Screening for HIV of C-C Chemokine Receptor Type 5 Receptor Inhibited by Traditional Chinese Medicine

    Directory of Open Access Journals (Sweden)

    Tzu-Chieh Hung

    2014-01-01

    Full Text Available The acquired immunodeficiency syndrome (AIDS, caused by the human immunodeficiency virus (HIV, has become a serious world-wide problem because of this disease's rapid propagation and incurability. Recent research has pointed out that the C-C chemokine receptor type 5 (CCR5 is an important target for HIV infection. The traditional Chinese medicine (TCM database (http://tcm.cmu.edu.tw/ has been screened for molecular compounds that, by simulating molecular docking and molecular dynamics, may protect CCR5 against HIV. Saussureamine C, 5-hydroxy-L-tryptophan, and abrine are selected based on the docking score being higher than Maraviroc and other TCM compounds. The molecular dynamics are helpful in the analysis and detection of protein-ligand interactions. According to the docking poses, hydrophobic interactions, and hydrogen bond variations, this research surmises TRP86, TYR108, GLN194, TYR251, and GLU283 are the main regions of important amino acids in CCR5. In addition to the detection of TCM compound efficacy, we suggest saussureamine C is better than the others for maintaining protein composition during protein-ligand interaction, based on the structural variation.

  5. Developmental programming: Impact of prenatal testosterone treatment and postnatal obesity on ovarian follicular dynamics.

    Science.gov (United States)

    Padmanabhan, V; Smith, P; Veiga-Lopez, A

    2012-08-01

    Prenatal testosterone (T) excess leads to reproductive dysfunctions in sheep with obesity exaggerating such defects. Developmental studies found ovarian reserve is similar in control and prenatal T sheep at fetal day 140, with prenatal T females showing increased follicular recruitment and persistence at 10 months of age (postpubertal). This study tested if prenatal T sheep show accelerated depletion prepubertally and if depletion of ovarian reserve would explain loss of cyclicity in prenatal T females and its amplification by postnatal obesity. Stereological examinations were performed at 5 (prepubertal, control and prenatal T) and 21 months (control, prenatal T and prenatal T obese, following estrus synchronization) of age. Obesity was induced by overfeeding from weaning. At 5 months, prenatal T females had 46% less primordial follicles than controls (P obesity did not exaggerate the impact of prenatal T on follicular recruitment indicating that compounding effects of obesity on loss of cyclicity females is not due to depletion of ovarian reserve. Assessment of follicular dynamics across several time points during the reproductive life span (this and earlier study combined) provides evidence supportive of a shift in follicular dynamics in prenatal T females from one of accelerated follicular depletion initiated prior to puberty to stockpiling of growing follicles after puberty, a time point critical in the development of the polycystic ovary syndrome phenotype.

  6. Prenatal stress in pigs

    NARCIS (Netherlands)

    Kranendonk, Godelieve

    2006-01-01

    Studies in many species, including humans, have demonstrated that stress during gestation can have long-term developmental, neuroendocrine, and behavioural effects on the offspring. Because pregnant sows can be subjected to regular stressful situations, it is relevant to study whether prenatal stres

  7. Prenatal stress in pigs

    NARCIS (Netherlands)

    Kranendonk, Godelieve

    2006-01-01

    Studies in many species, including humans, have demonstrated that stress during gestation can have long-term developmental, neuroendocrine, and behavioural effects on the offspring. Because pregnant sows can be subjected to regular stressful situations, it is relevant to study whether prenatal stres

  8. Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.

    Science.gov (United States)

    Tamminga, Saskia; van Maarle, Merel; Henneman, Lidewij; Oudejans, Cees B M; Cornel, Martina C; Sistermans, Erik A

    2016-01-01

    Cell-free DNA (cfDNA) testing has recently become indispensable in diagnostic testing and screening. In the prenatal setting, this type of testing is often called noninvasive prenatal testing (NIPT). With a number of techniques, using either next-generation sequencing or single nucleotide polymorphism-based approaches, fetal cfDNA in maternal plasma can be analyzed to screen for rhesus D genotype, common chromosomal aneuploidies, and increasingly for testing other conditions, including monogenic disorders. With regard to screening for common aneuploidies, challenges arise when implementing NIPT in current prenatal settings. Depending on the method used (targeted or nontargeted), chromosomal anomalies other than trisomy 21, 18, or 13 can be detected, either of fetal or maternal origin, also referred to as unsolicited or incidental findings. For various biological reasons, there is a small chance of having either a false-positive or false-negative NIPT result, or no result, also referred to as a "no-call." Both pre- and posttest counseling for NIPT should include discussing potential discrepancies. Since NIPT remains a screening test, a positive NIPT result should be confirmed by invasive diagnostic testing (either by chorionic villus biopsy or by amniocentesis). As the scope of NIPT is widening, professional guidelines need to discuss the ethics of what to offer and how to offer. In this review, we discuss the current biochemical, clinical, and ethical challenges of cfDNA testing in the prenatal setting and its future perspectives including novel applications that target RNA instead of DNA.

  9. Prenatal Depression: Best Practice Guidelines for Diagnosis and Treatment

    Science.gov (United States)

    Choate, Laura H.; Gintner, Gary G.

    2011-01-01

    The purpose of this article is to provide counselors with an overview of best practices for the treatment of women who experience prenatal depression (PND). The authors first discuss issues in the screening and diagnosis of PND. Next, the 2 most common treatments, antidepressants and psychotherapy, are reviewed and discussed in relation to current…

  10. Prenatal Depression: Best Practice Guidelines for Diagnosis and Treatment

    Science.gov (United States)

    Choate, Laura H.; Gintner, Gary G.

    2011-01-01

    The purpose of this article is to provide counselors with an overview of best practices for the treatment of women who experience prenatal depression (PND). The authors first discuss issues in the screening and diagnosis of PND. Next, the 2 most common treatments, antidepressants and psychotherapy, are reviewed and discussed in relation to current…

  11. Prenatal Genetic Testing Chart

    Science.gov (United States)

    ... NT ultrasound exam • Screens for Down • syndrome and trisomy 18 First-trimester screening Second-trimester screening (“quad ... 22 weeks • Blood test • Screens for Down syndrome, trisomy 13, trisomy 18, and NTDs Standard ultrasound exam • ...

  12. Midwives unable to overcome language barriers in prenatal care

    Directory of Open Access Journals (Sweden)

    Mirjam P. Fransen

    2012-09-01

    Full Text Available

    Background: the present study aims to explore to what extent midwives experience barriers in providing information about prenatal screening for Down syndrome to women from diverse ethnic backgrounds, and to assess their competences to overcome these barriers.

    Methods: midwives from 24 Dutch midwifery practices in Rotterdam completed a structured webbased questionnaire (n=57. Data were obtained on perceived ethnic-related differences and barriers in providing information on prenatal screening, preparedness to provide cultural competent care, and the use of translated materials and professional translators. A group interview was conducted to further explore the results emerging from the questionnaire (n=23.

    Results: almost all midwives (95% experienced barriers in informing women from non-Western ethnic backgrounds about prenatal screening. Midwives especially felt incompetent to provide information to pregnant women that hardly speak and understand Dutch. In total 58% of the midwives reported that they never used translated information materials and 88% never used professional interpreters in providing information on prenatal screening. The main reasons for this underutilization were unawareness of the availability of translated materials and unfamiliarity with the use of professional interpreters.

    Conclusions: although language barriers were reported to be the main difficulty in providing cultural competent care to patients from diverse ethnic backgrounds, only a minority of the midwives used translated materials or professional interpreters. In order to enable all pregnant women to make an informed decision whether or not to participate in prenatal screening, midwives’ competences to address language barriers should be increased.

  13. 1998-2010年珠海市地中海贫血大规模人群的遗传筛查和产前诊断结果分析%Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province

    Institute of Scientific and Technical Information of China (English)

    周玉球; 商璇; 尹保民; 熊符; 肖奇志; 周万军; 张永良; 徐湘民

    2012-01-01

    thalassemias testing and referred for follow-up and for genetic counseling.The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program.A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (T IF).Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays.The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily.Results From January 1998 to December 2010,85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded,the covering rates of premarital screening and prenatal screening in the city were 92.698% (from 1998 to 2003) and 27.667% (from 2004 to 2010),respectively.Totally 10 726 cases were found to be the carriers of thalassemias,with 7393 for o-thalassemia (5.237%,7 393/141 166) and 3333 for β-thalassemia (2.361%,3 333/141 166).A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia.Among them,251 (97.7%,251/257) couples were performed prenatal diagnosis.During the preventive control program,a total of 72 fetuses with severe thalassemias including hemoglobin H disease were voluntarily terminated.In Zhuhai City,the average annual birth rate of fetuses with severe thalassemia was declined by 32.9% (49/149).Conclusions This study has reduced effectively birth rate of perinatal infants with severe thalassemias in Zhuhai City by genetic screening and prenatal diagnosis of thalassemia in the large population of 13 years.Our summary

  14. Effectiveness of prenatal treatment for congenital toxoplasmosis: a meta-analysis of individual patients' data

    DEFF Research Database (Denmark)

    Thiébaut, Rodolphe; Leproust, Sandy; Chêne, Geneviève

    2007-01-01

    BACKGROUND: Despite three decades of prenatal screening for congenital toxoplasmosis in some European countries, uncertainty remains about the effectiveness of prenatal treatment. METHODS: We did a systematic review of cohort studies based on universal screening for congenital toxoplasmosis. We did...... a meta-analysis using individual patients' data to assess the effect of timing and type of prenatal treatment on mother-to-child transmission of infection and clinical manifestations before age 1 year. Analyses were adjusted for gestational age at maternal seroconversion and other covariates. FINDINGS......: We included 26 cohorts in the review. In 1438 treated mothers identified by prenatal screening, we found weak evidence that treatment started within 3 weeks of seroconversion reduced mother-to-child transmission compared with treatment started after 8 or more weeks (adjusted odds ratio [OR] 0.48, 95...

  15. Association between prenatal exposure to analgesics and risk of schizophrenia

    DEFF Research Database (Denmark)

    Sørensen, Holger J; Mortensen, Erik L; Reinisch, June M

    2004-01-01

    BACKGROUND: Disturbances in the central nervous system originating during foetal life may increase the risk of schizophrenia. AIMS: To illuminate the hypothesis that prenatal exposure to analgesics may affect foetal neurodevelopment, leading to increased risk of schizophrenia in adulthood. METHOD......: Using data from the Copenhagen Perinatal Cohort and from the Danish Psychiatric Central Register, we studied the relationship between prenatal exposure to analgesics and the risk of schizophrenia. The effect of prenatal exposure was adjusted for parental history of schizophrenia, second-trimester viral...... infections, concomitant drug treatment during pregnancy, an index of pregnancy complications, parental social status and parental age. RESULTS: In a risk set of 7999 individuals, 116 cases of schizophrenia were found (1.5%). Prenatal exposure to analgesics in the second trimester was associated...

  16. Association between prenatal exposure to analgesics and risk of schizophrenia

    DEFF Research Database (Denmark)

    Sørensen, Holger J; Mortensen, Erik Lykke; Reinisch, June M

    2004-01-01

    : Using data from the Copenhagen Perinatal Cohort and from the Danish Psychiatric Central Register, we studied the relationship between prenatal exposure to analgesics and the risk of schizophrenia. The effect of prenatal exposure was adjusted for parental history of schizophrenia, second-trimester viral......BACKGROUND: Disturbances in the central nervous system originating during foetal life may increase the risk of schizophrenia. AIMS: To illuminate the hypothesis that prenatal exposure to analgesics may affect foetal neurodevelopment, leading to increased risk of schizophrenia in adulthood. METHOD...... infections, concomitant drug treatment during pregnancy, an index of pregnancy complications, parental social status and parental age. RESULTS: In a risk set of 7999 individuals, 116 cases of schizophrenia were found (1.5%). Prenatal exposure to analgesics in the second trimester was associated...

  17. Costs, effects, and savings of screening for cystic fibrosis gene carriers

    NARCIS (Netherlands)

    Wildhagen, MF; Hilderink, HBM; Verzijl, JG; Verheij, JBGM; Kooij, L; Tijmstra, T; ten Kate, LP; Habbema, JDF

    1998-01-01

    Study objective-Evaluating the costs, effects, and savings of several strategies for cystic fibrosis (CF) gene carrier screening. Design-A general model for evaluating prenatal, preconceptional, school, and neonatal carrier screening was constructed. For prenatal and preconceptional screening, two s

  18. Automated screening of microtubule growth dynamics identifies MARK2 as a regulator of leading edge microtubules downstream of Rac1 in migrating cells.

    Directory of Open Access Journals (Sweden)

    Yukako Nishimura

    Full Text Available Polarized microtubule (MT growth in the leading edge is critical to directed cell migration, and is mediated by Rac1 GTPase. To find downstream targets of Rac1 that affect MT assembly dynamics, we performed an RNAi screen of 23 MT binding and regulatory factors and identified RNAi treatments that suppressed changes in MT dynamics induced by constitutively activated Rac1. By analyzing fluorescent EB3 dynamics with automated tracking, we found that RNAi treatments targeting p150(glued, APC2, spastin, EB1, Op18, or MARK2 blocked Rac1-mediated MT growth in lamellipodia. MARK2 was the only protein whose RNAi targeting additionally suppressed Rac1 effects on MT orientation in lamellipodia, and thus became the focus of further study. We show that GFP-MARK2 rescued effects of MARK2 depletion on MT growth lifetime and orientation, and GFP-MARK2 localized in lamellipodia in a Rac1-activity-dependent manner. In a wound-edge motility assay, MARK2-depleted cells failed to polarize their centrosomes or exhibit oriented MT growth in the leading edge, and displayed defects in directional cell migration. Thus, automated image analysis of MT assembly dynamics identified MARK2 as a target regulated downstream of Rac1 that promotes oriented MT growth in the leading edge to mediate directed cell migration.

  19. 血清学筛查与胎儿超声检查在18、13三体综合征产前诊断中的临床应用%Clinical applications of serological screening and fetal ultrasonography for prenatal diagnosis of trisomy 18 and trisomy 13

    Institute of Scientific and Technical Information of China (English)

    梁学清; 韦丽萍; 唐娟

    2012-01-01

    Objective: To evaluate the values of serological screening and fetal ultrasonography in prenatal diagnosis of trisomy 18 and trisomy 13. Methods:A total of 780 pregnant women received serological screening and fetal ultrasonography, the samples of amnion fluid were obtained by amniocentesis, the cell culture and chromosomal karyotype analysis were conducted for prenatal diagnosis. Results; Among 780 fetuses, 6 fetuses were found with trisomy 18 and trisomy 13, the incidence was 0.77% , including 3 fetuses with trisomy 18 and 3 fetuses with trisomy 13. Three fetuses with trisomy 18 were found with high risk of serological screening and abnormal ultrasonic structure; and the other three fetuses were found with abnormal ultrasonic structure and low risk of serological screening. Conclusion: Serological screening of pregnant women combined with fetal ultrasonography is an effective method to detect trisomy 18 and trisomy 13 before delivery.%目的:评价利用孕妇血清学筛查与胎儿超声检查在18、13三体综合征胎儿产前诊断的价值.方法:对780例孕妇进行孕妇血清学筛查与胎儿超声检查,羊膜腔穿刺取羊水进行细胞培养染色体核型分析进行产前诊断.结果:780例胎儿中共发现6例18、13三体综合征,发生率为0.77%.其中3例18三体综合征,3例13三体综合征.3例18三体综合征血清学筛查高风险和超声结构异常,其余3例超声检查发现结构异常但血清学筛查为低风险.结论:孕妇血清筛查结合胎儿超声检查是产前检出18、13三体综合征胎儿的有效检查方法.

  20. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.

    Science.gov (United States)

    Gekas, Jean; Langlois, Sylvie; Ravitsky, Vardit; Audibert, François; van den Berg, David Gradus; Haidar, Hazar; Rousseau, François

    2016-01-01

    Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women.

  1. The Diagnostic Value of Prenatal Ultrasound Screening for Complex Con-genital Cardiac Malformations During the Middle and Middle Pregnancy%中孕期胎儿产前超声筛查对复杂先天性心脏畸形的诊断价值探讨

    Institute of Scientific and Technical Information of China (English)

    李佳; 黄文英; 孙格格

    2015-01-01

    目的 分析妊娠中期胎儿行产前超声筛查对复杂先天性心脏畸形的临床诊断价值. 方法 整群选取该院2014年4月-2015年4月收治的5 800例妊娠中期的孕妇作为研究对象, 对其超声结果与产后的随访记录进行进一步分析. 结果共检出32例胎儿患有复杂先天性心脏畸形,检出率为0.55%.彩色多普勒超声诊断仪对单心房或单心室、大动脉转位、心内膜垫缺损、主动脉弓中断、永存动脉千、左心或右心发育不良、合并心外畸形、法洛四联征、左室横纹肌瘤和室间隔缺损进行筛查时,其检出率和随访记录差异无统计学意义;漏诊率为0.05%,漏诊的患儿分别为肺动脉狭窄、法洛四联征和室间隔缺损各1例. 结论 妊娠中期对胎儿进行产前超声筛查对其复杂先天性心脏畸形的临床诊断准确率较高,可降低复杂先天性心脏崎形胎儿出生率.%Objective To analyze the clinical diagnostic value of prenatal ultrasound screening for complex congenital cardiac mal-formations in the middle trimester of pregnancy. Methods In our hospital in April 2014 to 2015 April of 58 cases of prenatal ul-trasound screening in the second trimester pregnant women as the object of study and analysis of the ultrasonic imaging data and clinical data were retrospectively. The ultrasonic results and postpartum follow-up records for further analysis. Results 5 800 cases of pregnant women were checked out in 32 fetuses with complex congenital heart malformation, the detection rate was 0.55%. Col-or Doppler ultrasonic diagnostic apparatus of single atrial or ventricular, great artery transposition, endocardial cushion defect, aor-tic arch interruption, persistent truncus arteriosus thousand, left right heart or heart development adverse, with extra cardiac malfor-mations, tetralogy of Fallot, left ventricular rhabdomyoma and ventricular septal defect screening, by comparing the detection rate and follow-up record, the

  2. Prenatal testosterone and stuttering.

    Science.gov (United States)

    Montag, Christian; Bleek, Benjamin; Breuer, Svenja; Prüss, Holger; Richardt, Kirsten; Cook, Susanne; Yaruss, J Scott; Reuter, Martin

    2015-01-01

    The prevalence of stuttering is much higher in males compared to females. The biological underpinnings of this skewed sex-ratio is poorly understood, but it has often been speculated that sex hormones could play an important role. The present study investigated a potential link between prenatal testosterone and stuttering. Here, an indirect indicator of prenatal testosterone levels, the Digit Ratio (2D:4D) of the hand, was used. As numerous studies have shown, hands with more "male" characteristics (putatively representing greater prenatal testosterone levels) are characterized by a longer ring finger compared to the index finger (represented as a lower 2D:4D ratio) in the general population. We searched for differences in the 2D:4D ratios between 38 persons who stutter and 36 persons who do not stutter. In a second step, we investigated potential links between the 2D:4D ratio and the multifaceted symptomatology of stuttering, as measured by the Overall Assessment of the Speaker's Experience of Stuttering (OASES), in a larger sample of 44 adults who stutter. In the first step, no significant differences in the 2D:4D were observed between individuals who stutter and individuals who do not stutter. In the second step, 2D:4D correlated negatively with higher scores of the OASES (representing higher negative experiences due to stuttering), and this effect was more pronounced for female persons who stutter. The findings indicate for the first time that prenatal testosterone may influence individual differences in psychosocial impact of this speech disorder. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. On-site fuel electroanalysis: determination of lead, copper and mercury in fuel bioethanol by anodic stripping voltammetry using screen-printed gold electrodes.

    Science.gov (United States)

    Almeida, Eduardo S; Richter, Eduardo M; Munoz, Rodrigo A A

    2014-07-21

    The potential application of commercial screen-printed gold electrodes (SPGEs) for the trace determination of lead, copper, and mercury in fuel bioethanol is demonstrated. Samples were simply diluted in 0.067 mol L(-1) HCl solution prior to square-wave anodic stripping voltammetry (SWASV) measurements recorded with a portable potentiostat. The proposed method presented a low detection limit (<2 μg L(-1)) for a 240 s deposition time, linear range between 5 and 300 μg L(-1), and adequate recovery values (96-104%) for spiked samples. This analytical method shows great promise for on-site trace metal determination in fuel bioethanol once there is no requirement for sample treatment or electrode modification.

  4. Congenital dacryocystocele: prenatal MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Uludag University, Department of Radiology, Faculty of Medicine, Bursa (Turkey); Kline-Fath, Beth M.; Rubio, Eva I.; Calvo-Garcia, Maria A.; Linam, Leann E. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Yazici, Bulent [Uludag University, Department of Ophthalmology, Faculty of Medicine, Bursa (Turkey)

    2010-12-15

    Congenital dacryocystocele can be diagnosed prenatally by imaging. Prenatal MRI is increasingly utilized for fetal diagnosis. To present the radiological and clinical features of seven fetuses with congenital dacryocystocele diagnosed with prenatal MRI. The institutional database of 1,028 consecutive prenatal MR examinations performed during a period of 4 years was reviewed retrospectively. The cases of congenital dacryocystocele were identified by reading the report of each MRI study. The incidence of dacryocystocele diagnosed with prenatal MRI was 0.7% (n=7/1,028). The dacryocystocele was bilateral in three fetuses. Mean gestational age at the time of diagnosis was 31 weeks. The indication for prenatal MRI was the presence or the suspicion of central nervous system abnormality in six fetuses and diaphragmatic hernia in one. Dacryocystocele was associated with an intranasal cyst in six of ten eyes. Prenatal sonography revealed dacryocystocele in only two of seven fetuses. Of eight eyes with postnatal follow-up, four did not have any lacrimal symptoms. Prenatal MRI can delineate congenital dacryocystocele more clearly and in a more detailed fashion than ultrasonography. Presence of dacryocystocele was symptomatic in only 50% of our patients, supporting that prenatal diagnosis of dacryocystocele might follow a benign course. (orig.)

  5. Prenatal ultrasound and fetal MRI: The comparative value of each modality in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Pugash, Denise [Department of Radiology, University of British Columbia, Vancouver (Canada)], E-mail: dpugash@cw.bc.ca; Brugger, Peter C. [Integrative Morphology Group, Centre of Anatomy and Cell Biology, Medical University of Vienna, Waehringerstrasse 13, 1090 Vienna (Austria); Bettelheim, Dieter [University Clinics of Obstetrics and Gynaecology, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria); Prayer, Daniela [University Clinics of Radiodiagnostics, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria)

    2008-11-15

    Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information.

  6. Prenatal prevention for severe thalassemia disease at Srinagarind Hospital.

    Science.gov (United States)

    Ratanasiri, Thawalwong; Charoenthong, Chutharat; Komwilaisak, Ratana; Changtrakul, Yotsombat; Fucharoen, Supan; Wongkham, Jamras; Kleebkaow, Pilaiwan; Seejorn, Kanok

    2006-10-01

    To evaluate the results and cost-effectiveness of prenatal prevention measurement in severe thalassemia diseases at Srinagarind Hospital. Descriptive study. Antenatal care (ANC) Clinic, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University. 1,498 thalassemic screened pregnant women first presenting at ANC Clinic at gestational age less than 17 weeks. Medical records of thalassemic screened pregnant women between February 2002 and February 2005 were analyzed. Those with a value of mean corpuscular volume (MCV) less than 80 fl, or positive dichlorophenol indophenol precipitation test (KKU-DCIP Clear Reagent Kit) underwent hemoglobin (Hb) typing by high performance liquid chromatography (HPLC) together with thalassemia investigation (complete blood count, MCV and Hb typing) of their husbands and to identify couples at risk of 3 severe thalassemia diseases; Hb Bart's hydrops fetalis, homozygous, -thalassemia and, -thalassemia/ Hb E disease. Then they were advised to undergo DNA analysis and, if they had fetal risk, appropriate prenatal diagnosis was offered. Number of affected fetuses detected by prenatal diagnosis. Nine hundred and ninety six pregnant women (66.49%) were positive on screening. Of these, 642 (64.46%) had thalassemia investigation done with their spouses. There were 19 couples at risk (1.27% of total screened pregnant women) for having fetal severe thalassemia disease from initial laboratory results. Most of them were, -thalassemia/ Hb E diseases. We found only 10 pregnant women (52.63%) that had undergone prenatal diagnosis. The consequent results were two affected fetuses (20%), one was Hb Bart's hydrops fetalis, and the other was, o-thalassemia/ Hb E disease. In these cases, their parents decided to discontinue the pregnancy. Our prevention program could save 1.14 million bahts for the cost of treatment in two prevented severe thalassemia cases. The prenatal prevention program of severe thalassemia disease at Srinagarind Hospital can

  7. The effection of choriontity on twin's first-trimester prenatal screening.%绒毛膜性质对双胎早期唐氏征筛查的影响

    Institute of Scientific and Technical Information of China (English)

    唐华; 周莹; 唐汪澜; 王华

    2016-01-01

    目的 通过比较不同绒毛膜性对双胎早期唐氏筛查风险的影响,指导双胎早期唐氏筛查的风险计算.方法 收集2014年7月至12月于湖南省妇幼保健院行唐氏筛查的170例自然妊娠双绒毛膜双羊膜囊双胎孕妇,用双绒毛膜双羊膜囊、单绒毛膜双羊膜囊及单绒毛膜单羊膜囊分别计算风险并追踪妊娠结局,比较用不同绒毛膜性进行风险计算所造成的差异.结果 按双绒毛膜双羊膜囊、单绒毛膜双羊膜囊及单绒毛膜单羊膜囊计算的妊娠相关蛋白A中位数倍数(PAPP-A MOM)分别为2.19,1.20,1.37;人绒毛膜促性腺激素游离β亚基中位数倍数(free HCG βMOM)分别为2.02,1.09,1.36.按双绒毛膜双羊膜囊、单绒毛膜双羊膜囊及单绒毛膜单羊膜囊计算所得唐氏综合征高风险例数分别为1 3例、10例和7例,假阳性率分别为7.65%,5.88%,4.12%.追踪所有孕妇妊娠结局,其中双胎之一发生染色体异常者2例,双胎之一停育者2例,双胎停育者1例,1例双胎之一为心脏室间隔缺损,出生后行手术修补,1例双胎出生后均确诊为先天性甲状腺功能减低症.结论 运用不同绒毛膜性进行双胎早期唐氏筛查风险计算,血清生化指标及风险值会发生显著变化,应按照孕妇真实情况详细描述双胎绒毛膜性,避免错误风险计算及漏筛情况的发生.%Objective:To study whether there were significant difference among different choriontity for guiding the clinical twin's first-trimester prenatal screening.Method:Collecting 170 cases of natural twin pregnancy samples from July 2014 to December 2014.All cases were dichorionic diamniotic (DCDA).Using different chodontity such as dichorionic diamniotic,monochorionic diamniotic (MCDA),monochorionic monoamniotic (MCMA) calculated the risk of Down's syndrome at the first-trimester pregnancy.The difference were analyzed combined with the pregnancy results were followed up.Results:According to different

  8. 产前不同时期三维超声筛查胎儿唇裂的效果比较%Comparison of prenatal 3D ultrasound screening at different periods for fetal cleft lip

    Institute of Scientific and Technical Information of China (English)

    阳瑞莲

    2014-01-01

    目的:探讨产前不同时期三维超声筛查胎儿唇裂畸形的效果。方法选择2007年8月至2014年6月在衡阳市第一人民医院进行产前检查并确诊胎儿为唇裂的孕妇31例,对其二维图像及三维成像进行对比,研究三维成像对胎儿唇裂的显示率及最佳显示时间。结果31例唇裂中,孕14~19周5例,面部三维成像满意者3例,唇部结构清晰显示者2例(唇裂的三维超声显示率40.0%);孕20~27周17例,面部三维成像满意或基本满意者15例,唇部结构清晰显示者15例(三维超声显示率88.2%);孕28~34周6例,面部三维成像满意或基本满意者3例,唇部结构清晰显示者2例(三维超声显示率33.3%);孕35周~39周3例,仅1例羊水过多患者面部三维成像满意,唇部结构显示清晰(三维超声显示率33.3%)。孕20~27周胎儿唇裂三维成像显示率明显高于孕14~19周(χ2=5.119,P=0.024)、28~34周(χ2=6.933,P=0.008)和35~39周(χ2=4.804,P=0.028),差异均有统计学意义。三维成像满意显示的唇裂中Ⅰ度唇裂3例(15.0%),Ⅱ度唇裂4例(20.0%),Ⅲ度唇裂7例(35.0%),唇裂合并上牙槽突裂3例(15.0%),唇裂合并腭裂3例(15.0%)。结论三维超声诊断胎儿唇裂存在明显的时限性,最佳时间为孕20~27周。%Objective To study the effect of 3D ultrasound screening for fetal cleft lip deformity at different periods .Methods Totally 31 pregnant women ,who had done prenatal examination in the First People ’ s Hospital of Hengyang City during the period of August 2007 to June 2014,were diagnosed with cleft lip .Their 2D images and 3D images were compared to study the display rate and the optimal display time of fetal cleft lip by 3D imaging.Results Of 31 cases of cleft lip, 5 cases were pregnancy at 14-19 gestational weeks, including 3 cases with

  9. Informed consent - Providing information about prenatal examinations

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; Hvidman, Lone

    Prenatal care has gradually moved away from paternalism, to a state where patient autonomy and information is vital. It is known from other health care settings that the way information is presented affects understanding.The objective is to summarize current knowledge on aspects of informing...... pregnant women about prenatal examinations. Women's knowledge, decisional conflict, satisfaction and anxiety will be explored as compared with different ways and different groups of health professionals providing information. To what extent information empowers informed decision making will be explored......, individual sessions and by way of written materials. None of the interventions leads to a raise in anxiety scores or influence up-take rates. Satisfaction with information provided is found unrelated to level of knowledge, but associated with having expectations for information met. Information does not seem...

  10. A "genome-to-lead" approach for insecticide discovery: pharmacological characterization and screening of Aedes aegypti D(1-like dopamine receptors.

    Directory of Open Access Journals (Sweden)

    Jason M Meyer

    2012-01-01

    Full Text Available BACKGROUND: Many neglected tropical infectious diseases affecting humans are transmitted by arthropods such as mosquitoes and ticks. New mode-of-action chemistries are urgently sought to enhance vector management practices in countries where arthropod-borne diseases are endemic, especially where vector populations have acquired widespread resistance to insecticides. METHODOLOGY/PRINCIPAL FINDINGS: We describe a "genome-to-lead" approach for insecticide discovery that incorporates the first reported chemical screen of a G protein-coupled receptor (GPCR mined from a mosquito genome. A combination of molecular and pharmacological studies was used to functionally characterize two dopamine receptors (AaDOP1 and AaDOP2 from the yellow fever mosquito, Aedes aegypti. Sequence analyses indicated that these receptors are orthologous to arthropod D(1-like (Gα(s-coupled receptors, but share less than 55% amino acid identity in conserved domains with mammalian dopamine receptors. Heterologous expression of AaDOP1 and AaDOP2 in HEK293 cells revealed dose-dependent responses to dopamine (EC(50: AaDOP1 = 3.1±1.1 nM; AaDOP2 = 240±16 nM. Interestingly, only AaDOP1 exhibited sensitivity to epinephrine (EC(50 = 5.8±1.5 nM and norepinephrine (EC(50 = 760±180 nM, while neither receptor was activated by other biogenic amines tested. Differential responses were observed between these receptors regarding their sensitivity to dopamine agonists and antagonists, level of maximal stimulation, and constitutive activity. Subsequently, a chemical library screen was implemented to discover lead chemistries active at AaDOP2. Fifty-one compounds were identified as "hits," and follow-up validation assays confirmed the antagonistic effect of selected compounds at AaDOP2. In vitro comparison studies between AaDOP2 and the human D(1 dopamine receptor (hD(1 revealed markedly different pharmacological profiles and identified amitriptyline and doxepin as AaDOP2

  11. Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome: a feasibility study

    Institute of Scientific and Technical Information of China (English)

    LIU Tao; LIU Qing; WANG Yi-xin; YANG Dong; XIN Yi; FANG Zhen; DING Shu-fang; YANG Jie-fu

    2010-01-01

    Background A study of prenatal genetic diagnosis for 22q11.2 mierodeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence of 22q11.2 microdeletion in congenitally malformed fetuses via the fluorescent in situ hybridization (FISH) technique and to investigate the feasibility of use of amniocytes to diagnose 22q11.2 microdeletion syndrome prenatally.Methods The study enrolled 23 cases of fetal cardiac malformation, as indicated by ultrasound in Beijing Anzhen Hospital and 14 cases of non-cardiac malformation, as determined by type-B ultrasound in Beijing Anzhen Hospital and other hospitals. Amniotic fluid was obtained by amniocentesis before odinopoeia, and the stillborn fetuses of the induced labor were preceded to autopsy. The amniotic fluid of 20 cesarean deliveries during the same period of time was used as a control. The TUPLE1 gene in the amniotic fluid of malformed and normal fetuses was assessed by the FISH method.Results The prevalence rates of the TUPLE1 gene deletion in the amniotic fluid cells from fetuses with cardiac deformations and fetuses without such malformations were 43.5% and 57.1%, respectively. The deletion of TUPLE1 was significantly associated with fetal malformation.Conclusion Chromosome 22q11.2 microdeletion is one of the major factors leading to fetal congenital malformations, and prenatal FISH screening for 22q11.2 microdeletion syndrome is technically feasible using amniocytes.

  12. Physician liability and non-invasive prenatal testing.

    Science.gov (United States)

    Toews, Maeghan; Caulfield, Timothy

    2014-10-01

    Although non-invasive prenatal testing (NIPT) marks a notable development in the field of prenatal genetic testing, there are some physician liability considerations raised by this technology. As NIPT is still emerging as the standard of care and is just starting to receive provincial funding, the question arises of whether physicians are obligated to disclose the availability of NIPT to eligible patients as part of the physician-patient discussion about prenatal screening and diagnosis. If NIPT is discussed with patients, it is important to disclose the limitations of this technology with respect to its accuracy and the number of disorders that it can detect when compared with invasive diagnostic options. A failure to sufficiently disclose these limitations could leave patients with false assurances about the health of their fetuses and could raise informed consent and liability issues, particularly if a child is born with a disability as a result.

  13. QSAR-Assisted Virtual Screening of Lead-Like Molecules from Marine and Microbial Natural Sources for Antitumor and Antibiotic Drug Discovery

    Directory of Open Access Journals (Sweden)

    Florbela Pereira

    2015-03-01

    Full Text Available A Quantitative Structure-Activity Relationship (QSAR approach for classification was used for the prediction of compounds as active/inactive relatively to overall biological activity, antitumor and antibiotic activities using a data set of 1746 compounds from PubChem with empirical CDK descriptors and semi-empirical quantum-chemical descriptors. A data set of 183 active pharmaceutical ingredients was additionally used for the external validation of the best models. The best classification models for antibiotic and antitumor activities were used to screen a data set of marine and microbial natural products from the AntiMarin database—25 and four lead compounds for antibiotic and antitumor drug design were proposed, respectively. The present work enables the presentation of a new set of possible lead like bioactive compounds and corroborates the results of our previous investigations. By other side it is shown the usefulness of quantum-chemical descriptors in the discrimination of biologically active and inactive compounds. None of the compounds suggested by our approach have assigned non-antibiotic and non-antitumor activities in the AntiMarin database and almost all were lately reported as being active in the literature.

  14. QSAR-assisted virtual screening of lead-like molecules from marine and microbial natural sources for antitumor and antibiotic drug discovery.

    Science.gov (United States)

    Pereira, Florbela; Latino, Diogo A R S; Gaudêncio, Susana P

    2015-03-17

    A Quantitative Structure-Activity Relationship (QSAR) approach for classification was used for the prediction of compounds as active/inactive relatively to overall biological activity, antitumor and antibiotic activities using a data set of 1746 compounds from PubChem with empirical CDK descriptors and semi-empirical quantum-chemical descriptors. A data set of 183 active pharmaceutical ingredients was additionally used for the external validation of the best models. The best classification models for antibiotic and antitumor activities were used to screen a data set of marine and microbial natural products from the AntiMarin database-25 and four lead compounds for antibiotic and antitumor drug design were proposed, respectively. The present work enables the presentation of a new set of possible lead like bioactive compounds and corroborates the results of our previous investigations. By other side it is shown the usefulness of quantum-chemical descriptors in the discrimination of biologically active and inactive compounds. None of the compounds suggested by our approach have assigned non-antibiotic and non-antitumor activities in the AntiMarin database and almost all were lately reported as being active in the literature.

  15. 产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值%Diagnostic Value of Prenatal Ultrasound Screening on Fetuses with Complex Congenital Heart Malformation in Second Trimester of Pregnancy

    Institute of Scientific and Technical Information of China (English)

    夏曦; 周芬芳; 陈宏; 陈莉

    2014-01-01

    Objective To explore the diagnostic value of prenatal ultrasound screening on fetuses with complex con-genital heart malformation in second trimester of pregnancy. Methods From February 2012 to February 2014,the examination data of prenatal ultrasound screening of 9 300 pregnant women in second trimester of pregnancy in our hospital were retrospectively analyzed,the ultrasound findings and follow - up results were compared. Results The positive rate of complex congenital heart malformation was 0. 29% (27 / 9 300). There was no significant differences of detection rate of endocardial cushion defect, transposition of the great arteries,single atrium or ventricle,left or right heart dysplasia,persistent truncus arteriosus,inter-rupted aortic arch,left ventricular cardiac rhabdomyoma,Fallot's tetrad,outside heart malformations and ventricular septal de-fect between ultrasound findings and the fellow - up results(P > 0. 05). A total of 5 cases(0. 05% )got missed diagnosis,in-cluding one case of Fallot's tetrad,2 cases of pulmonary artery stenosis,2 cases of ventricular septal defect. Conclusion Pre-natal ultrasound screening has a higher accurate diagnosis rate on fetuses with complex congenital heart malformation in second tri-mester of pregnancy,is helpful in reducing the birth rate of fetuses with complex congenital heart malformation and to prenatal and postnatal care.%目的:探讨产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值。方法回顾性分析2012年2月-2014年2月在我院进行产前超声筛查的9300例妊娠中期孕妇的超声检查资料,比较超声检查结果和产后随访结果。结果9300例孕妇共检出27例复杂先天性心脏畸形胎儿,检出率为0.29%。超声筛查对心内膜垫缺损、大动脉转位、单心房/单心室、左心/右心发育不良、永存动脉干、主动脉弓中断、左室横纹肌瘤、法洛四联征、合并心外畸形及室间隔缺损的检出率与随访结

  16. The results and analysis on the prenatal screening for 7952 cases of pregnant women with serum in Xiaoshan area,Hangzhou%杭州萧山区7952例孕妇血清产前筛查结果与分娩结局的分析

    Institute of Scientific and Technical Information of China (English)

    许文龙; 顾柳芬; 窦琳琳; 楼乐飞

    2012-01-01

    Objective: To search the prenatal screening on second trimester fetusfor fetal chromosomal abnormalities and neural tube defects, in order to reduce the birth deficiency. Methods; Time - resolved fluorescence immunoassay are used to tests the concentrations of AFP, Free - β - HCG in the serum of 7952 middle period pregnant women whose were pregnant for 15 - 19 weeks in Xiaoshan. And the childbirth of pregnant women were followed up. Results: 7952 pregnant women accepted prenatal screening, the high risk rate is 2. 79% (222/7952). Among them, 189 cases indicate DS, 8 cases indicate 18 -trisomy, 25 cases indicate NTD. All pregnant women were follow - up and 112 cases were amniocentesis in 222 cases because of high risk. The rate of amniocentesis is 50.45%. Abnormal incidence was 6.30% (14/222); by the way of amniocentesis and ultrasound, 3 cases of 21 -trisomy syndrome , 1 case of endocardial defect and 1 caes of chromosome constriction extended were found. There are 96 low - risk abnormal labor from 7730 cases which are low — risk abnormalities, accounting for 1. 24% of low - risk population. Than a total of 110 cases of abnormal birth, of which 31 cases of spontaneous abortion, 41 cases of medical termination of pregnancy, 19 cases of stillbirth, 19 cases of neonatal abnormalities. Conclusion: The combination of prenatal screening and prenatal diagnosis are important for preventing the born of children with chromosomal abnormalities and other congenital malformations.%目的 了解孕中期产前筛查对胎儿染色体异常及神经管缺陷的作用,以降低出生缺陷.方法 应用时间分辨荧光免疫法对萧山区7952例孕15 ~19+6周孕妇血清AFP和Free -β - HCG进行产前筛查,同时对孕妇分娩结局进行随访结果.结果 血清产前筛查7952人,高风险222例,高风险率为2.79%.其中21-三体综合征高风险189例;18-三体综合征高风险8例;NTD高风险25例.7952例月孕妇分娩随访结果显示:高风险222例

  17. Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint.

    Science.gov (United States)

    Norton, Mary E; Rose, Nancy C; Benn, Peter

    2013-04-01

    The recent introduction of clinical tests to detect fetal aneuploidy by analysis of cell-free DNA in maternal plasma represents a tremendous advance in prenatal diagnosis and the culmination of many years of effort by researchers in the field. The development of noninvasive prenatal testing for clinical application by commercial industry has allowed much faster introduction into clinical care, yet also presents some challenges regarding education of patients and health care providers struggling to keep up with developments in this rapidly evolving area. It is important that health care providers recognize that the test is not diagnostic; rather, it represents a highly sensitive and specific screening test that should be expected to result in some false-positive and false-negative diagnoses. Although currently being integrated in some settings as a primary screening test for women at high risk of fetal aneuploidy, from a population perspective, a better option for noninvasive prenatal testing may be as a second-tier test for those patients who screen positive by conventional aneuploidy screening. How noninvasive prenatal testing will ultimately fit with the current prenatal testing algorithms remains to be determined. True cost-utility analyses will be needed to determine the actual clinical efficacy of this approach in the general prenatal population.

  18. 产前系统超声筛查与胎儿染色体异常的关系%The Correlation for Prenatal Ultrasound Screening of Fetal Malformations and Fetal Chromosomal Abnormality

    Institute of Scientific and Technical Information of China (English)

    戴晨燕; 茹彤; 顾燕; 杨燕; 杨丽娟; 徐燕

    2011-01-01

    目的:探讨产前系统超声筛查中晚孕期胎儿结构异常对指导进行侵入性产前诊断的价值.方法:2008年1月至2009年6月对我院中晚孕期孕妇行系统超声及超声心动图筛查,发现胎儿异常时经产前咨询及孕妇知情同意后,进行侵入性产前检查即羊水或脐静脉穿刺,进行染色体核型分析,分析各种类型的超声异常表现与染色体异常发病风险的关系.结果:共有105例超声检查发现胎儿异常的孕妇接受了羊水或脐静脉穿刺行胎儿染色体核型分析,77例超声发现严重异常的病例中检出26例染色体异常(26/77),严重异常组与微小异常组之间染色体异常发病的差异有高度统计学意义(χ2=12.566,P<0.001),尤其是胎儿先天性心脏病合并心外畸形时,染色体异常发病率高达55%(11/20).结论:产前系统超声及超声心动图筛查可以发现大多数的胎儿发育异常,特别是胎儿先天性心脏病,可以为进一步进行侵入性产前诊断提供重要依据.%Objective:To assess the effectiveness of systematic ultrasound in second or third trimester to detect fetal malformations for instructing the necesity of further invasive prenatal diagnosis.Methods:This retrospective study included pregnancy women from January 2008 to June 2009 in the Affiliated Drum Tower hospital of Nanjing University Medical College.Those women had systematic ultrasound and echocardiogram examination within the second or third trimester of pregnancy.When fetal malformations were found, the invasive prenatal diagnosis (puncture of amniotic fluid or umbilical vein) was suggested to check the chromosomal abnormalities and analyze their relationship.Results:105 pregnant women who were found fetal abnormalities were recruited and had the invasive prenatal diagnosis, 26 cases of chromosomal abnormalities were found in 77 obvious ultrasound abnormalities.There was significant difference in chromosomal abnormalities between obvious and

  19. [Fetal ocular anomalies: the advantages of prenatal magnetic resonance imaging].

    Science.gov (United States)

    Brémond-Gignac, D; Copin, H; Elmaleh, M; Milazzo, S

    2010-05-01

    Congenital ocular malformations are uncommon and require prenatal diagnosis. Severe anomalies are more often detected by trained teams and minor anomalies are more difficult to identify and must be systematically sought, particularly when multiple malformations or a family and maternal history is known. The prenatal diagnosis-imaging tool most commonly used is ultrasound but it can be completed by magnetic resonance imaging (MRI), which contributes crucial information. Fetal dysmorphism can occur in various types of dysfunction and prenatal diagnosis must recognize fetal ocular anomalies. After systematic morphologic ultrasound imaging, different abnormalities detected by MRI are studied. Classical parameters such as binocular and interorbital measurements are used to detect hypotelorism and hypertelorism. Prenatal ocular anomalies such as cataract microphthalmia, anophthalmia, and coloboma have been described. Fetal MRI added to prenatal sonography is essential in detecting cerebral and general anomalies and can give more information on the size and morphology of the eyeball. Fetal abnormality detection includes a detailed family and maternal history, an amniotic fluid sample for karyotype, and other analyses for a better understanding of the images. Each pregnancy must be discussed with all specialists for genetic counseling. With severe malformations, termination of pregnancy is proposed because of risk of blindness and associated cerebral or systemic anomalies. Early prenatal diagnosis of ocular malformations can also detect associated abnormalities, taking congenital cataracts that need surgical treatment into account as early as possible. Finally, various associated syndromes need a pediatric check-up that could lead to emergency treatment.

  20. NON-INVASIVE PRENATAL DIAGNOSIS: A REVIEW

    Directory of Open Access Journals (Sweden)

    Madhusudan Dey, Sumita Agarwal and Sumedha Sharma

    2013-04-01

    Full Text Available ABSTRACT: Aneuploidies are one of the important causes of perinatal morbidity and mortality. Initially screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high risk for aneuploidies were offered invasive testing. Recently, various methods including non-invasive prenatal testing (NIPT by analysis of cell-free fetal DNA (cffDNA in maternal blood has shown promise for highly accurate detection of common fetal autosomal trisomies. Incorporating these new non-invasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counselling plays an integral role. The advantage of the technique being elimination of risks such as miscarriage associated with invasive diagnostic procedures. But then this new technique has its own set of technical limitations and ethical issues at present and further research is required before implementation. Data was obtained through a literature search via Pubmed and Google as well as detailed search of our library database.

  1. The place of prenatal clases.

    Science.gov (United States)

    Enkin, M W

    1978-11-01

    The past 20 years has shown an exponential rise in both obstetrical intervention and family centred maternity care. Prenatal classes, although not as yet fully integrated into prenatal care, fill a vital role in teaching couples the information, skills, and attitudes required to participate actively in their reproductive care, and to recognize both their rights and their responsibilities.

  2. Prenatal genetic testing, counseling and follow-up of 33 Egyptian pregnant females with history of mucopolysaccharidoses

    Directory of Open Access Journals (Sweden)

    Khaled R. Gaber

    2015-04-01

    Conclusion: Early prenatal screening and diagnosis, through a systematic multidisciplinary approach, to all cases of mucopolysaccharidoses are recommended, to improve the quality of life and to avoid the presence of other associated fetal developmental malformations.

  3. [Next generation sequencing and its applications in non-invasive prenatal testing of aneuploidies].

    Science.gov (United States)

    Babay, Lilla Éva; Horányi, Dániel; Rigó, János; Nagy, Gyula Richárd

    2015-06-28

    The development of the new generation sequencing techniques brought a new era in the field of DNA sequencing, that also revolutionized the prenatal screening for aneuploidy. In order to provide a more complete view, the authors describe some first generation methods as well as the theoretical and technical background of the next generation methods. In the second part of this review, the authors focuse on non-invasive prenatal testing, which is a fetal cell-free DNA based method requiring advanced sequencing procedures. After discussing the theoretical and technical background, the authors review current application and utility of non-invasive prenatal testing. They conclude that non-invasive prenatal testing is the most effective screening test in high risk pregnancies and its efficiency can be justified in studies involving low risk pregnancies as well.

  4. Analysis of the serological screening index and prenatal diagnosis findings in 8606 women in the second trimester%8606例中孕期妇女血清学三联筛查及产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    朱翔; 许芳; 王玉萍; 付夏; 李书勤; 李莉; 浦春; 武其文

    2016-01-01

    目的:探讨血清学三联指标联合产前筛查及产前诊断在临床上的应用价值。方法:应用时间分辨免疫荧光法对8606例孕中期妇女进行血清甲胎蛋白(AFP)、游离β-人绒毛膜促性腺激素(free-βHCG)和非耦联雌三醇(uE3)三联指标检测。将检测结果结合孕妇的年龄、孕周、体质量等因素输入中国南方人群数据库为基础的产前筛查风险评估软件计算出风险值。对染色体非整倍体病高风险者建议进行羊水穿刺细胞培养或荧光原位杂交试验进行产前诊断。低风险及拒绝进行羊水穿刺的高风险孕妇进行电话随访。结果:①8606例孕妇21-三体综合征(DS)、18-三体综合征(ES)和开放性神经管缺陷(ONTD)的筛查高风险阳性率分别为6.47%(557/8606)、0.17%(15/8606)和0.56%(48/8606)。②羊水细胞培养产前诊断共检出21-三体综合征8例,18-三体综合征2例。此外羊水细胞染色体核型分析还检出特纳综合征3例,克氏征1例以及染色体结构变异2例。③随访结果表明血清学三联法对21-三体综合征的检出率为84.62%,假阳性率为6.34%,假阴性率为0.02%。结论:孕中期妇女血清学三联指标联合产前筛查和羊水穿刺进行产前诊断对预防常见染色体综合征具有重要作用。%Objective: To assess the clinical value of prenatal diagnosis and serological screening indicators for accurate predication of trisomy 21 syn-drome.Methods:Serological screening tests pertainting to α-fetoprotein(AFP),β-human chorionic gonadotrophin(β-HCG) and free estriol(uE3) were performed with time-resolved fluorescence immunoassay in 8606 women during thier second trimester .The risk values were estimated with the risk assess-ment software for prenatal screening data based on women in south China by consideration of risk factors associated with age ,pregnant weeks and body weight of

  5. Mutation screening and prenatal diagnosis of Wilson' s disease by denature high performance liquid chromatography%应用变性高效液相色谱技术进行肝豆状核变性的基因突变筛查及产前诊断

    Institute of Scientific and Technical Information of China (English)

    杜娟; 高伯笛; 李麓芸; 李汶; 卢光琇

    2008-01-01

    目的 探讨变性高效液相色谱(denature high performance liquid chromatography,DHPLC)技术在肝豆状核变性(Wilson's disease,WD)的突变筛查及产前诊断中的临床应用.方法 以6个WD家系中的患者及其父母的DNA为模板,采用PCR技术扩增ATP7B基因的21个外显子及5'非翻译区,PCR产物经DHPLC技术进行突变筛查,对峰型有改变者进行测序验证.在确定了先证者突变类型的基础上,采用相同方法对其中4个家系(1个双胎和3个单胎)进行产前诊断.结果 6例患者中检测出5种已知的致病突变及8种多态类型.患者的父母均为相应突变类型的携带者.产前诊断结果显示,两例妊娠为异常胎儿,其中1例双胎为Arg778Leu/IVS4-1G>C双重杂合子,1例单胎为Ser975Tyr/Pro992Leu双重杂合子,这两对妊娠夫妇选择了终止妊娠.另两例妊娠中,1例为Ser975Tyr杂合子,1例完全正常,他们选择了继续妊娠,出生了表型正常儿.结论 DHPLC在Wilson病的突变检测和产前诊断中有良好的应用前景.%Objective To study the clinical application of denature high performance liquid chromatography (DHPLC) technique on mutation screening and prenatal diagnosis for Wilson' s disease (WD). Methods Genomic DNA of the probands with Wilson' s disease and their parents from 6 families was subjected to polymerase chain reaction (PCR) for the 21 exons and the 5' untranslated region of ATP7B gene. Mutation screening of the PCR products was performed by DHPLC. The abnormal peaks were confirmed by further sequencing analysis. Based on the successful gene diagnosis for the patients, prenatal diagnosis was performed in 4 families, including 1 twin and 3 singletons. Results Five disease-causing mutations and 8 polymorphisms were found in the 6 probands by DHPLC and sequencing. The parents were carriers with the same mutation as their affected children. Prenatal diagnosis showed that two pregnancies were abnormal, including a twin pregnancy with

  6. 基于社区水平的珠海市大人群地中海贫血的遗传筛查和产前诊断%A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province

    Institute of Scientific and Technical Information of China (English)

    周玉球; 徐湘民; 莫秋华; 卢金汉; 李莉艳; 梁雄; 贾世奇; 肖鸽飞; 周万军; 肖奇志

    2008-01-01

    Objective To describe a community-based model for prevention and control of severe α and β thalassemias in Zhuhai city of Guangdong province.Methods Couples for premarital medical examination or regular heahhcare examination in pregnancy were enrolled in this prospective screening program,which was supported by the two-level network composed of 6 local hospitals for testing thalassemias and follow-up for genetic counseling.A conventional heterozygote screening strategy Was used to determine α and β thalasemia traits in women and their partners according to the standard procedures of hematological phenotype analysis.Then confirmative diagnosis of α and β thalassemia was performed On those couples suspected at-risk for seven thalassemia by using the PCR-based molecular diagnostic assays. The couples at risk for severe thalassemia Were counseled and offered prenatal diagnosis and termination of pregnancy in ease of an affected fetus. Results During the period between January 1998 and December 2005, the screened records included 85522 young females and their partners for premarital screening and 10439 pregnant women for prenatal screening,with 71.38% coverage of total population recorded in this city for premarital screening.Six thousands five hundreds and sixty-three individuals in total were found to be the carriers of thalassemias,with 4312 for α thalassemia (4.5%) and 2251 for β thalassemia (2.3%),respectively.One hundred and forty-eisht couples Were diagnosed to be at-risk for thalassemias,including 103 for a thalassemia and 45 for β thalassemia, respectively.Successful prenatal diagnosis was made for 142(98 for a thalasemia and 44 for β thalassemia) out of 148 (95.9%) pregnancies at-risk for severe thalassemias.Twenty-three cases of hydrops fetalis,4 of Hb H diseases and 14 of β thal assemia were identified.All 41 pregnancies with affected fetuses were voluntarily terminated.Thus, this has led to a marked decrease of scvcrc thalassemia syndrome since

  7. Prenatal diagnosis of hemimegalencephaly.

    Science.gov (United States)

    Lang, Shih-Shan; Goldberg, Ethan; Zarnow, Deborah; Johnson, Mark P; Storm, Phillip B; Heuer, Gregory G

    2014-01-01

    In recent literature, there have been case reports of prenatal diagnosis of hemimegalencephaly, an extremely rare entity characterized by enlargement of all or portions of 1 cerebral hemisphere and intractable seizures. A unique case is presented of hemimegalencephaly of a fetus diagnosed in utero. A 27-year-old woman presented at 32 weeks' gestation for fetal magnetic resonance imaging after an abnormal fetal ultrasound. Fetal magnetic resonance imaging showed hemimegalencephaly of the left cerebral hemisphere with abnormal gyration. The patient was born via cesarean section at 39 weeks' gestation. He had continuous infantile spasms and partial-onset seizures starting on day 1 of life, and electroencephalography showed burst suppression. The patient's seizures were initially managed with antiepileptics, prednisolone, and a ketogenic diet; however, he was hospitalized multiple times because of status epilepticus. At 6 months of age, he underwent a successful anatomic left hemispherectomy. In utero diagnosis of complex developmental brain anomalies allows a multidisciplinary approach to provide optimal prenatal patient treatment and parental counseling. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Prenatal diagnosis and abortion for congenital abnormalities: is it ethical to provide one without the other?

    Science.gov (United States)

    Ballantyne, Angela; Newson, Ainsley; Luna, Florencia; Ashcroft, Richard

    2009-08-01

    This target article considers the ethical implications of providing prenatal diagnosis (PND) and antenatal screening services to detect fetal abnormalities in jurisdictions that prohibit abortion for these conditions. This unusual health policy context is common in the Latin American region. Congenital conditions are often untreated or under-treated in developing countries due to limited health resources, leading many women/couples to prefer termination of affected pregnancies. Three potential harms derive from the provision of PND in the absence of legal and safe abortion for these conditions: psychological distress, unjust distribution of burdens between socio-economic classes, and financial burdens for families and society. We present Iran as a comparative case study where recognition of these ethical issues has led to the liberalization of abortion laws for fetuses with thalassemia. We argue that physicians, geneticists and policymakers have an ethical and professional duty of care to advocate for change in order to ameliorate these harms.

  9. Comparison of Biomass and Lipid Production under Ambient Carbon Dioxide Vigorous Aeration and 3% Carbon Dioxide Condition Among the Lead Candidate Chlorella Strains Screened by Various Photobioreactor Scales

    Energy Technology Data Exchange (ETDEWEB)

    Kobayashi, Naoko [Univ. of Nebraska, Lincoln, NE (United States); Barnes, Austin [Univ. of Nebraska, Lincoln, NE (United States); Jensen, Travis [Univ. of Nebraska, Lincoln, NE (United States); Noel, Eric [Univ. of Nebraska, Lincoln, NE (United States); Andlay, Gunjan [Synaptic Research, Baltimore, MD (United States); Rosenberg, Julian N. [Johns Hopkins Univ., Baltimore, MD (United States); Betenbaugh, Michael J. [Johns Hopkins Univ., Baltimore, MD (United States); Guarnieri, Michael T. [National Renewable Energy Lab. (NREL), Golden, CO (United States); Oyler, George A. [Univ. of Nebraska, Lincoln, NE (United States); Johns Hopkins Univ., Baltimore, MD (United States); Synaptic Research, Baltimore, MD (United States)

    2015-09-01

    Chlorella species from the UTEX collection, classified by rDNA-based phylogenetic analysis, were screened based on biomass and lipid production in different scales and modes of culture. Lead candidate strains of C. sorokiniana UTEX 1230 and C. vulgaris UTEX 395 and 259 were compared between conditions of vigorous aeration with filtered atmospheric air and 3% CO2 shake-flask cultivation. We found that the biomass of UTEX 1230 produced 2 times higher at 652 mg L-1 dry weight under both ambient CO2 vigorous aeration and 3% CO2 conditions, while UTEX 395 and 259 under 3% CO2 increased to 3 times higher at 863 mg L-1 dry weight than ambient CO2 vigorous aeration. The triacylglycerol contents of UTEX 395 and 259 increased more than 30 times to 30% dry weight with 3% CO2, indicating that additional CO2 is essential for both biomass and lipid accumulation in UTEX 395 and 259.

  10. Responses of different Chinese flowering cabbage (brassica parachinensis l.) cultivars to cadmium and lead exposure: screening for Cd + Pb pollution-safe cultivars

    Energy Technology Data Exchange (ETDEWEB)

    Qiu, Qiu; Yang, Zhongyi; Xin, Junliang; Yuan, Jiangang; Wang, Jianbing; Xin, Guorong [State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-Sen University, Guangzhou (China); Wang, Yutao [Key Laboratory of Ecology and Environmental Science in Guangdong Higher Education, School of Life Sciences, South China Normal University, Guangzhou, Guangdong (China)

    2011-11-15

    To reduce the potential risks of cadmium (Cd) and lead (Pb) entering the human food chain in vegetables, two pot experiments (Exp. 1 and Exp. 2) were carried out to screen for Cd and Pb pollution-safe cultivars (PSCs) of Chinese flowering cabbage (Brassica parachinensis L.). The three Cd treatments in Exp. 1 (0.114, 0.667, and 1.127 mg kg{sup -1}) showed that Chinese flowering cabbage could easily take up Cd from polluted soils, and there were wide variations in Cd accumulation among different cultivars. The Cd accumulation trait at cultivar level was rather stable under different soil Cd treatments. In Exp. 2, seven cultivars that had been shown in Exp. 1 to be typical high or low accumulators of Cd were selected and six Cd + Pb joint exposure treatments were applied to them. The results showed that there were similar trends of accumulation between Cd and Pb for the tested cultivars, but Pb accumulation by the species was much poorer than that of Cd. It was worth noting that an increase in soil Pb levels significantly (p < 0.01) depressed shoot Cd accumulation. Six cultivars were selected as Cd + Pb PSCs. This study showed that it is feasible to apply a PSC strategy in Chinese flowering cabbage cultivation, to cope with the Cd and Pb contamination commonly found in agricultural soils. (Copyright copyright 2011 WILEY-VCH Verlag GmbH and Co. KGaA, Weinheim)

  11. Genotype variations in accumulation of cadmium and lead in celery (Apium graveolens L.) and screening for low Cd and Pb accumulative cultivars

    Institute of Scientific and Technical Information of China (English)

    Kun ZHANG; Jianbing WANG; Zhongyi YANG; Guorong XIN; Jiangang YUAN; Junliang XIN; Charlie HUANG

    2013-01-01

    To help reduce risks of heavy metal pollution, two pot experiments were conducted to investigate the variations, transfer potential, and stability of Cadmium (Cd) and Lead (Pb) accumulations in celery (Apium graveolens L.) and to screen for low Cd and Pb accumulative cultivars. The maximum differences in shoot Cd concentration were 4.7-fold under low-Cd exposure and 3.3-fold under high-Cd exposure. These genotype variations in Cd accumulation are sufficiently large to help reduce Cd contamination risk in soil by using the Low-Cd-Accumulative genotypes. Cd accumulation of the Low-Cd-Accumulative genotypes is significantly positive correlated with Pb accumulation. Evidence obtained proves that Cd and Pb accumulations in celery are stable and genotype-dependent at the cultivar level. The presence of high-Pb contamination in soil promoted Cd accumulation in shoots of celery. Celery is considered a species with high risks in Cd pollution and low risks in Pb pollution. Among the tested cultivars, cv. Shuanggang- kangbing (SGKB) had the lowest shoot Cd and Pb accumulating abilities, and thus is the most important material for breeding of pollution-safe cultivars (PSCs) to minimize Cd and Pb accumulations in celery.

  12. 江苏地区以人群为基础的唐氏综合征产前筛查和诊断研究%A study on population-based prenatal screening and diagnosis of Down's syndrome in Jiangsu province

    Institute of Scientific and Technical Information of China (English)

    刘启兰; 童建孙; 王兴海; 何竞; 胡娅莉; 许争峰; 王丽娟; 孙庆; 林宁; 徐晓燕; 刘艳; 张建伟

    2010-01-01

    目的 对江苏省中期妊娠孕妇的胎儿进行唐氏综合征筛查和诊断,减少21三体综合征患儿出生.方法 用分层和整群抽样相结合的多阶段抽样方法,对江苏省怀孕15~20周的26 803名妇女采用时间荧光分辨法进行母血清常规二联筛查,筛查出的高风险孕妇进行羊膜腔穿刺、细胞培养、染色体分析.出生儿童通过面访和外周血染色体培养确诊.结果 血清筛查和羊水染色体检查,确诊6例胎儿;出生儿童随访和外周血染色体分析确诊3例,共确诊9例唐氏综合征,产前筛查检出率为67%(6/9).结论 产前筛查和诊断可以减少唐氏综合征患儿出生,提高出生人口素质.但是应提高产前筛查的准确性,最大限度地降低假阴性,减少或杜绝漏诊发生.%Objective To screen and diagnose Down' s syndrome during mid-term pregnancy to reduce the number of babies with Down' s syndrome. Methods With the multi-level of stratified cluster sampling, twenty thousand and eight hundred and three women at 15-20 weeks gestation were screened by maternal serum AFP and β-hCG using the time resolved fluoroimmunoassay (TRFIA). Then the screened high-risk women were diagnosed by amniocentesis, cell culture and chromosome analyses. The born children were diagnosed by follow-up and peripheral blood chromosome analyses. Results Six fetuses were diagnosed by serum screening and amniotic fluid chromosome analyses, and 3 born children were diagnosed by follow-up and peripheral blood chromosome analyses. Nine cases of Down's syndrome were detected in total, with the positive prenatal screen rate being 67% (6/9). Conclusion The prenatal screening and diagnosis can reduce the birth of Down's syndrome patients and improve the population quality. However, the diagnosis accuracy still needs to be improved to further reduce the false negative rate and prevent misdiagnosis.

  13. The analysis of advanced age pregnancy and Down′s screening for fetal chromosomal abnormalities in the prenatal%高龄妊娠与唐氏筛查高风险的产前诊断染色体异常分析

    Institute of Scientific and Technical Information of China (English)

    胡丹; 李海军; 李志华; 陈敏; 孙筱放

    2015-01-01

    Objective To explore if the high‐risk of Down′s screening can predict the fetal chromosomal abnormalities for the advanced age pregnant women ,provide a scientific basis for the advanced age pregnant women to select the Down′s screening .Meth‐ods Reviewed the patients which had the indications of prenatal diagnostic because of advanced age and the high‐risk of Down′s screening from January 2010 to June 2013 ,a total of 2 335 cases .All the maternal age were ≥35 years old and the average age was 37 .43 ± 2 .93 .All the cases were carried out karyotype analysis that the samples were from amniotic fluid ,umbilical cord blood or villus ,the training success rate is 99 .5% .Results We found 177 cases abnormal fetal chromosome in the 2 335 cases advanced age women ,the abnormal rate is 7 .58% .The greater the age ,the higher of the chromosomal abnormalities rate in the unusual cases .In addition to chromosomal polymorphism ,the trisomy of the chromosome and inversions between chromosome arms are the most common chromosomal abnormalities .Conclusion Conducted the Down′s screening in the advanced age women can improve the screening rates of the fetal chromosomal abnormalities .It is necessary for the high‐risk of Down′s screening in advanced age preg‐nant women to have the prenatal diagnosis to investigate the fetal chromosomal abnormalities .%目的:探讨唐氏筛查高风险对高龄妊娠染色体异常是否具有预测意义,为高龄孕妇选择唐氏筛查筛选染色体异常提供科学依据。方法回顾该院2010年1月至2013年6月因高龄妊娠唐氏筛查高风险有产前诊断指征前来咨询的病例共2335例,所有孕妇年龄均大于或等于35岁,平均(37.43±2.93)岁。病例均进行了羊水或脐带血细胞绒毛培养染色体核型分析,培养成功率99.5%,然后对染色体核型结果进行分析。结果2335例高龄孕妇中产前诊断染色体结果异常的共有177

  14. 产前系统性超声筛查在中晚期孕妇检查中的诊断价值%Diagnostic value of systematic prenatal ultrasound screening of pregnant women in the middle and late of pregnancy

    Institute of Scientific and Technical Information of China (English)

    陈宏建; 陆得秀; 曹蕊; 茆在梅

    2014-01-01

    目的:探讨产前系统性超声筛查在中晚期孕妇检查中的诊断价值。方法总结和分析仪征市中医院2010年5月至2014年3月对孕22~32周3550例中晚期孕妇进行产前系统性超声筛查结果。结果本组3550例胎儿筛查中,胎儿畸形共80例(2.25%),单发畸形71例,多发畸形9例,其中漏诊5例(0.14%)。在单发畸形中,神经系统畸形17例、泌尿系统畸形12例、心脏畸形10例、消化系统(包括腹部)畸形11例、骨骼系统畸形5例、呼吸系统畸形4例、颈面部8例、其他畸形4例。在漏诊5例中,胎儿复杂心脏畸形1例、腭裂1例、膀胱部分外翻1例、足内翻1例、肛门闭锁1例。结论产前系统性超声筛查对胎儿诊断检查中具有较高特异性和准确性,应作为产前孕妇检查的常规检查手段。%Objective To explore diagnostic value of systematic prenatal ultrasound screening of pregnant women in the middle and late of pregnancy. Methods Summary and analysis into 3 550 cases of prenatal ultrasound screening of pregnant women in between 22nd and 32nd of pregnancy. Results Among the 3 550 cases in this arti-cle, 80 of them were fetal anomaly (2.25%), including 71 single malformation and 9 multiple malformations. Five were missed diagnosed. Single malformation consisted of 17 nervous system malformations, 12 urinary system malforma-tions, 10 heart malformations, 11 digestive system malformations (including abdominal), 5 skeletal malformations, 4 respiratory system malformations, 8 neck facial malformations, 4 other forms of malformation. Five missed diagnosed cases consisted of 1 congenital heart malformation, 1 cleft palate, 1 partial bladder exstrophy, 1 talipes varus, 1 proc-tatresia. Conclusion Systematic prenatal ultrasound screening has a high value of specificity and accuracy, thus it should be a routine examination for pregnant women.

  15. Causes and outcome of prenatally diagnosed hydronephrosis

    Directory of Open Access Journals (Sweden)

    Ahmadzadeh Ali

    2009-01-01

    Full Text Available Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S. Hydronephrosis may be obstructive or non-obstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD in transverse plane: mild (6-9.9 mm, moderate (10-14.9 mm and severe (> 15 mm hydronephrosis. Voiding cystourethrography (VCUG was obtained in all of the patients to rule out vesicoureteral reflux (VUR. In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO. Twenty two cases (32.8% had mild, 20 (29.9% had moderate, and 25 (37.3% had severe hydronephrosis. The causes of hydroneph-rosis were VUR (40.2%, UPJO (32.8%, posterior urethral valves (PUVs (13.4 %, and transient hydronephrosis (13.4 %. The lesion was obstructive in 37 (55.2% infants. Totally, 33 (49.2% patients with hydronephrosis (9 mild, 9 moderate, and 15 severe subsequently developed com-plications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4% patients. We conclude that every newborn with any degree of hydro-nephrosis should be assessed postnatally for specific diagnosis and treatment.

  16. The Effectiveness of Prenatal Intervention on Pain and Anxiety ...

    African Journals Online (AJOL)

    ... about the birth.[4]. Over 90% of prenatal stress and anxiety is related to the process ... stress hormones increases and can lead to preterm birth, lack ... Results: The result of this study showed that the parent with a high level of education was more ..... the benefits of educational programs to participants and their newborns ...

  17. Postnatal Depression Prevention Through Prenatal Intervention: A Literature Review

    Science.gov (United States)

    2006-03-17

    including increased preterm birth, small for gestational age infants, spontaneous abortion, low Apgar scores and birth complications such as increased...to have late entry to prenatal care. Utilizing the Center for Epidemiologic Studies Depression Scale (CESTS) score , the author suggested that...primiparous pregnancy, age, marital status or education levels. Identification of a woman who scores a false positive on a screening test may cause undue

  18. Prenatal management of anencephaly.

    Science.gov (United States)

    Cook, Rebecca J; Erdman, Joanna N; Hevia, Martin; Dickens, Bernard M

    2008-09-01

    About a third of anencephalic fetuses are born alive, but they are not conscious or viable, and soon die. This neural tube defect can be limited by dietary consumption of foliates, and detected prenatally by ultrasound and other means. Many laws permit abortion, on this indication or on the effects of pregnancy and prospects of delivery on a woman's physical or mental health. However, abortion is limited under some legal systems, particularly in South America. To avoid criminal liability, physicians will not terminate pregnancies, by induced birth or abortion, without prior judicial approval. Argentinian courts have developed means to resolve these cases, but responses of Brazilian courts are less clear. Ethical concerns relate to late-term abortion, meaning after the point of fetal viability, but since anencephalic fetuses are nonviable, many ethical concerns are overcome. Professional guidance is provided by several professional and institutional codes on management of anencephalic pregnancies.

  19. Costs, effects, and savings of screening for cystic fibrosis gene carriers

    NARCIS (Netherlands)

    M.F. Wildhagen (Mark); H.B. Hilderink; J.G. Verzijl; J.B. Verheij (Joke); L. Kooij (Loes); T. Tijmstra; L.P. ten Kate; J.D.F. Habbema (Dik)

    1998-01-01

    textabstractSTUDY OBJECTIVE: Evaluating the costs, effects, and savings of several strategies for cystic fibrosis (CF) gene carrier screening. DESIGN: A general model for evaluating prenatal, preconceptional, school, and neonatal carrier screening was constructed. For p

  20. Noninvasive prenatal testing: the future is now.

    Science.gov (United States)

    Norwitz, Errol R; Levy, Brynn

    2013-01-01

    Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. Given the well-recognized association between increasing maternal age and trisomy,1-3 the primary utilization of prenatal testing has been by older mothers. This has drastically reduced the incidence of aneuploid children born to older mothers.4 Although younger women have relatively low risks of conceiving a child with aneuploidy, the majority of pregnant women are in their late teens, 20s, and early 30s. As such, most viable aneuploid babies are born to these younger mothers.5 Invasive prenatal diagnosis (CVS and amniocentesis) is not a feasible option for all low-risk mothers, as these procedures carry a small but finite risk and would ultimately cause more miscarriages than they would detect aneuploidy. For this reason, a number of noninvasive tests have been developed-including first-trimester risk assessment at 11 to 14 weeks, maternal serum analyte (quad) screening at 15 to 20 weeks, and sonographic fetal structural survey at 18 to 22 weeks-all of which are designed to give a woman an adjusted (more accurate) estimate of having an aneuploid fetus using as baseline her a priori age-related risk. Ultrasound and maternal serum analysis are considered screening procedures and both require follow up by CVS or amniocentesis in screen-positive cases for a definitive diagnosis of a chromosome abnormality in the fetus. The ability to isolate fetal cells and fetal DNA from maternal blood during pregnancy has opened up exciting opportunities for improved noninvasive prenatal testing (NIPT). Direct analysis of fetal cells from maternal circulation has been challenging given the scarcity of fetal cells in maternal blood (1:10,000-1:1,000,000) and the focus has shifted to the analysis of cell-free fetal DNA, which is found at a concentration almost 25 times higher than that

  1. What Happens during Prenatal Visits?

    Science.gov (United States)

    ... at risk for complications? How does stress affect pregnancy? NICHD Research Information Clinical Trials Resources and Publications What happens during prenatal visits? Skip sharing on social media links Share this: Page Content What happens during ...

  2. Preconception Care and Prenatal Care

    Science.gov (United States)

    ... at risk for complications? How does stress affect pregnancy? NICHD Research Information Clinical Trials Resources and Publications Preconception Care and Prenatal Care: Condition Information Skip sharing on social media links Share this: Page Content What is preconception ...

  3. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  4. A importância das provas de despistagem da bacteriúria assintomática em serviços de pré-natal The importance of screening for assymptomatical bacteriuria in pre-natal services

    Directory of Open Access Journals (Sweden)

    Cyro Ciari Junior

    1975-03-01

    Full Text Available Foram realizadas algumas provas de despistagem da bacteriúria assintomática em 103 gestantes agrupadas segundo a época de gestação, comparativamente com resultados de urocultura. Concluiu-se pela importância da prova do nitrito em tubo, para triagem inicial das bacteriúrias assintomáticas no evolver da gestação.Screening for assymptomatical bacteriuria in 103 pregnant women grouped according to the age of pregnancy was performed. The results were compared with those obtained by urocultures. The nitrite tube test proved to be important in the screening for assymptomatical bacteriuria throughout pregnancy.

  5. Population estimates of survival in women with screen-detected and symptomatic breast cancer taking account of lead time and length bias.

    NARCIS (Netherlands)

    Lawrence, G.; Wallis, M.; Allgood, P.; Nagtegaal, I.D.; Warwick, J.; Cafferty, F.H.; Houssami, N.; Kearins, O.; Tappenden, N.; O'Sullivan, E.; Duffy, S.W.

    2009-01-01

    BACKGROUND: Evidence of the impact of breast screening is limited by biases inherent in non-randomised studies and often by lack of complete population data. We address this by estimating the effect of screen detection on cause-specific fatality in breast cancer, corrected for all potential biases,

  6. Screening for Preeclampsia: US Preventive Services Task Force Recommendation Statement.

    Science.gov (United States)

    Bibbins-Domingo, Kirsten; Grossman, David C; Curry, Susan J; Barry, Michael J; Davidson, Karina W; Doubeni, Chyke A; Epling, John W; Kemper, Alex R; Krist, Alex H; Kurth, Ann E; Landefeld, C Seth; Mangione, Carol M; Phillips, William R; Phipps, Maureen G; Silverstein, Michael; Simon, Melissa A; Tseng, Chien-Wen

    2017-04-25

    Preeclampsia affects approximately 4% of pregnancies in the United States. It is the second leading cause of maternal mortality worldwide and may lead to serious maternal complications, including stroke, eclampsia, and organ failure. Adverse perinatal outcomes for the fetus and newborn include intrauterine growth restriction, low birth weight, and stillbirth. Many of the complications associated with preeclampsia lead to early induction of labor or cesarean delivery and subsequent preterm birth. Preeclampsia is more prevalent among African American women than among white women. Differences in prevalence may be, in part, due to African American women being disproportionally affected by risk factors for preeclampsia. African American women also have case fatality rates related to preeclampsia 3 times higher than rates among white women. Inequalities in access to adequate prenatal care may contribute to poor outcomes associated with preeclampsia in African American women. To update the 1996 US Preventive Services Task Force (USPSTF) recommendation on screening for preeclampsia. The USPSTF reviewed the evidence on the accuracy of screening and diagnostic tests for preeclampsia, the potential benefits and harms of screening for preeclampsia, the effectiveness of risk prediction tools, and the benefits and harms of treatment of screen-detected preeclampsia. Given the evidence that treatment can reduce maternal and perinatal morbidity and mortality, and the well-established accuracy of blood pressure measurements, the USPSTF found adequate evidence that screening for preeclampsia results in a substantial benefit for the mother and infant. In addition, there is adequate evidence to bound the harms of screening for and treatment of preeclampsia as no greater than small. Therefore, the USPSTF concludes with moderate certainty that there is a substantial net benefit of screening for preeclampsia in pregnant women. The USPSTF recommends screening for preeclampsia in pregnant

  7. Predicting Risk of Prenatal Screening for Down Syndrome Using Logistic Regression Model%Logistic回归在建立产前筛查唐氏综合征风险估计模型中的应用

    Institute of Scientific and Technical Information of China (English)

    卓仁杰; 李莺; 张莉娜; 沈其君

    2016-01-01

    利用64772例12~20周筛查孕妇(正常孕妇64718例,唐氏患者54例)的孕妇血清学指标,采用Logistic回归,建立三联筛查方案和二联筛查方案的风险估计模型.采用2种方案,计算全部筛查孕妇的风险值,通过ROC曲线下面积、检出率、阳性率评价2种筛查方案的效果.结果表明:年龄、甲胎蛋白、游离人绒毛膜促性腺激素和游离雌三醇在Logistic回归模型中均有统计学意义,三联方案ROC曲线下面积大于二联方案,但无显著性差异(z统计量为1.382, P=0.1669);在同一截断值下,三联方案检出率高于二联方案,假阳性率低于二联方案,差异有统计学意义(t=-9.44, P<0.001).三联方案根据约登指数计算,最佳筛查截断值为1:400,假阳性率为4.3%.%In this study, a total of 64772 pregnant weman in gestational timeframe between 12 to 20 weeks are selected for analytical purposes, including 64718 normal pregnant weman and 54 suffering Down's syndrome. The maternal serum markers are converted to serum with multiple of median (MoM) adjusted by grouping the gestational age and weight. The MoM is adjusted by twin, smoking and diabetes in the Logistic regression model. Risk estimation is calculated for each pregnant woman using two different screening methods. Area under the curve of receiver operator characteristic (AUC), detection rate and false positive rate are calculated individually to assess the effect of these two different methods. Results show that age, alpha-fetoprotein (AFP), free human chorionic gonadotrophin (HCG) and unconjugated estriol (uE3) are significantly dominant in the Logistic regression model. The AUC of tripe serum screening is larger than that of double serum screening, but manifests no significant difference (z=1.382,P=0.166 9). With the same cutoff value, the detection rate of triple serum screening is higher than that of double serum screening, and the false positive rate of triple serum screening is lower than

  8. 妊娠中期唐氏综合征和神经管缺损的产前筛查,诊断的研究%Studies of second trimester prenatal screening and diagnosis for Down's syndrome and open neural tube defects

    Institute of Scientific and Technical Information of China (English)

    王健; 周晓; 丁显平; 袁蔓莉

    2012-01-01

    目的 对重庆地区妊娠中期的妇女进行唐氏综合征和其他先天畸形的产前筛查、诊断,以降低出生缺陷.方法 对43057例14 - 20周的孕妇采用化学发光法孕妇血中的AFP和β- HCG浓度,通过计算机软件计算危险系数(唐筛风险值≥275,神经管缺损AFP≥2.5 MoMs).对唐氏征高危的孕妇取羊水做染色体和基因诊断,神经管缺损高危者行超声波检查.结果 43057孕妇中筛查出唐氏综合征,神经管缺损,18,13三体高危2463例,占5.72%.唐氏征高危2002例,占4.65%.有1352例愿意选一步确诊,发现53例异常妊娠.306例神经管缺损高危(占0.71%)中全部做超声检查.发现9例神经管缺损的胎儿.155例(占0.36%)18,13三体高危中86例做羊水染色体,异常1例,其余虽未做进一步确诊,但有3例胎死宫内,证明也有异常妊娠.结论 唐氏综合征和神经管缺陷的产前筛查并结合其他方法进行诊断.对降低出生缺陷有积极的意义.%Objective; This study was To identify in the utilization of second trimester maternal serum screening and prenatal diagnosis of Down's yndrome and other congenital abnormality to pregnant women in regional Chongqing for reducing the frequency of natal defect. Methods; Detect the value of AFP and (3 - HCG in the serum of 43057 pregnant women at about 14th ~20th weeks by chemilu-minescence in the AFP and β - HCG concentration and calculate their risk coefficient with professional computer software (The risk cut - off levels were 1: 275 for Down's syndrome, 2. 5 MoMs alpha fetoprotein for open neural tube defects ). Analyze karyotype in amniotic fluid and carry out gene diagnosis to Down's syndrome high risk pregnant women. Perform ultrasonography to neural tube defect (NTD) high risk cases. Results; In 43057 pregnant women, 2463 cases (5. 72% ) were high risk, 2002 (4. 65% ) high risk cases of Down's syndrome, 306 (0. 71% ) high risk cases of NTD and 155 (0. 36% ) high risk cases of 18

  9. Genetic screening and democracy: lessons from debating genetic screening criteria in the Netherlands.

    Science.gov (United States)

    van El, Carla Geertruida; Pieters, Toine; Cornel, Martina

    2012-04-01

    Recent decades have witnessed increasing possibilities for genetic testing and screening. In clinical genetics, the doctor's office defined a secluded space for discussion of sensitive reproductive options in cases of elevated risk for genetic disorders in individuals or their offspring. When prenatal screening for all pregnant women became conceivable, the potential increase in scale made social and ethical concerns relevant for the whole of society. Whereas genetic testing in clinical genetic practice was widely accepted, prenatal screening at a population level met with unease. Concerns were raised regarding social pressure to screen: the sum of individual choice might result in a 'collective eugenics'. The government's involvement also raised suspicion: actively offering screening evoked associations with eugenic population policies from the first half of the 20th century. By reconstructing elements of policy and public debate on prenatal screening in the Netherlands from the past 30 years, this article discusses how the government has gradually changed its role in balancing the interest of the individual and the collective on genetic reproductive issues. Against a background of increasing knowledge about and demand for prenatal screening among the population, governmental policy changed from focusing on protection by banning screening toward facilitating screening in a careful and ethically sound way by providing adequate information, decision aids and quality assessment instruments. In the meanwhile, invigorating democracy in public debate may entail discussing concepts of 'the good life' in relation to living with or without impairments and dealing with genetic information about oneself or one's offspring.

  10. Screening for Chlamydia trachomatis in Low-Risk Obstetric Patients

    Directory of Open Access Journals (Sweden)

    Robert K. Gribble

    1994-01-01

    Full Text Available Objective: The purpose of this study was to evaluate the prevalence of Chlamydia trachomatis in our rural obstetric population and assess the appropriateness of selective vs. universal prenatal screening.

  11. Retrospective review of prenatal care and perinatal outcomes in a group of uninsured pregnant women.

    Science.gov (United States)

    Jarvis, Catherine; Munoz, Marie; Graves, Lisa; Stephenson, Randolph; D'Souza, Vinita; Jimenez, Vania

    2011-03-01

    To assess the adequacy of prenatal care and perinatal outcomes for uninsured pregnant women at two primary care centres in Canada. We conducted a retrospective case comparison study of uninsured women presenting for prenatal care between 2004 and 2007 (n = 71). Control subjects (n = 72) were chosen from provincially insured women presenting for prenatal care during the same period. A modified Kotelchuck Index was used to assess adequacy of care. Frequency of routine prenatal testing (blood tests, ultrasound, cervical swabs, Pap testing, and genetic screening) was compared. Perinatal outcomes assessed included gestational age and birth weight. Uninsured pregnant women presented for initial care 13.6 weeks later than insured women (at 25.6 weeks vs. 12.0 weeks, P care providers (6.6 vs. 10.7, P = 0.05). Using a modified Kotelchuck Adequacy of Prenatal Care Utilization Index, uninsured women were more likely to be categorized as receiving "inadequate care" (uninsured 61.9% vs. insured 11.7%, P care of uninsured pregnant women in Canada. Women in this category presented late for prenatal care, were less likely to have adequate screening tests, and were more likely to receive "inadequate care" as defined by the modified Kotelchuck Index. This information may be valuable in helping to plan programs to improve access to timely and adequate medical care for uninsured pregnant women.

  12. 单核苷酸多态性芯片与染色体核型分析在唐氏筛查高风险孕妇产前诊断中的比较研究%Comparison between single nucleotide polymorphism array and karyoty-ping in prenatal diagnosis in Down’ s screening abnormal pregnancy

    Institute of Scientific and Technical Information of China (English)

    白小艺; 章钧; 田琪; 林俊伟; 侯红瑛

    2015-01-01

    [ ABSTRACT] AIM:To evaluate the clinical application of single nucleotide polymorphism array ( SNP array) in prenatal diagnosis for screening the abnormality of women with Down’ s syndrome ( DS) .METHODS:The amniotic fluid samples ( n=312) collected by amniocentesis for the DS screening abnormality women were tested by karyotyping and SNP array analysis, respectively.The findings of karyotyping and SNP array analysis were compared.RESULTS:Two cases of trisomy 21 were identified by karyotyping and SNP array analysis, but SNP array analysis failed to identify 6 cases of chro-mosome balanced structural rearrangement.SNP detected 176 cases copy number variants ( CNVs) in 303 cases normal karyotype were detected by SNP, including 106 benign CNVs, 61 variants of unknown significance (VOUS), 9 de novo CNVs, and none of them was pathogenic.The distribution difference of CNVs in DS screening positive group and DS screening positive plus advanced maternal age group was not statistically significant ( P>0.05) .Furthermore, we reported 14 kinds of CNVs for the first time in population.CONCLUSION:SNP array can further assure chromosome microdupli-cation/microdeletion.In normal karyotype fetus of prenatal diagnosis, SNP can detect some clinical significant CNVs.%目的:探讨单核苷酸多态性芯片( SNP array)在唐氏筛查高风险孕妇胎儿染色体分析中的应用价值。方法:选取312例因唐氏筛查高风险的孕妇,行羊膜腔穿刺术后获得羊水,对羊水进行G显带核型分析和SNP array检测,比较核型分析与SNP array检测结果,并按年龄分组比较拷贝数变异( CNVs)的发生率差别。结果:核型分析和SNP array均准确发现2例21三体(0.64%),6例核型分析提示染色体平衡重组(1.92%)的样本经SNP array分析证实不存在重排片段重复或缺失。在303例核型正常的胎儿羊水细胞中, SNP array检测发现176例CNVs,其中良性CNVs 106例,

  13. Electrochemical sensors for the simultaneous determination of zinc, cadmium and lead using a Nafion/ionic liquid/graphene composite modified screen-printed carbon electrode

    Energy Technology Data Exchange (ETDEWEB)

    Chaiyo, Sudkate [Electrochemistry and Optical Spectroscopy Research Unit (EOSRU), Department of Chemistry, Faculty of Science, Chulalongkorn University, 254 Phayathai Road, Patumwan, Bangkok (Thailand); Mehmeti, Eda [Institute of Chemistry, Department of Analytical Chemistry, Karl-Franzens University, Universitätsplatz 1, Graz A-8010 (Austria); Žagar, Kristina [Department for Nanostructured Materials, Jozef Stefan Institute, Ljubljana (Slovenia); Siangproh, Weena, E-mail: weena@swu.ac.th [Department of Chemistry, Faculty of Science, Srinakharinwirot University, Sukhumvit 23, Wattana, Bangkok (Thailand); Chailapakul, Orawon, E-mail: corawon@chula.ac.th [Electrochemistry and Optical Spectroscopy Research Unit (EOSRU), Department of Chemistry, Faculty of Science, Chulalongkorn University, 254 Phayathai Road, Patumwan, Bangkok (Thailand); Center of Excellence on Petrochemical and Materials Technology, Chulalongkorn University, Patumwan, Bangkok (Thailand); Kalcher, Kurt, E-mail: kurt.kalcher@uni-graz.at [Institute of Chemistry, Department of Analytical Chemistry, Karl-Franzens University, Universitätsplatz 1, Graz A-8010 (Austria)

    2016-04-28

    A simple, low cost, and highly sensitive electrochemical sensor, based on a Nafion/ionic liquid/graphene composite modified screen-printed carbon electrode (N/IL/G/SPCE) was developed to determine zinc (Zn(II)), cadmium (Cd(II)), and lead (Pb(II)) simultaneously. This disposable electrode shows excellent conductivity and fast electron transfer kinetics. By in situ plating with a bismuth film (BiF), the developed electrode exhibited well-defined and separate peaks for Zn(II), Cd(II), and Pb(II) by square wave anodic stripping voltammetry (SWASV). Analytical characteristics of the BiF/N/IL/G/SPCE were explored with calibration curves which were found to be linear for Zn(II), Cd(II), and Pb(II) concentrations over the range from 0.1 to 100.0 ng L{sup −1}. With an accumulation period of 120 s detection limits of 0.09 ng mL{sup −1}, 0.06 ng L{sup −1} and 0.08 ng L{sup −1} were obtained for Zn(II), Cd(II) and Pb(II), respectively using the BiF/N/IL/G/SPCE sensor, calculated as 3σ value of the blank. In addition, the developed electrode displayed a good repeatability and reproducibility. The interference from other common ions associated with Zn(II), Cd(II) and Pb(II) detection could be effectively avoided. Finally, the proposed analytical procedure was applied to detect the trace metal ions in drinking water samples with satisfactory results which demonstrates the suitability of the BiF/N/IL/G/SPCE to detect heavy metals in water samples and the results agreed well with those obtained by inductively coupled plasma mass spectrometry. - Highlights: • Nafion/ionic liquid/graphene composite modified electrode was fabricated. • Simultaneous determination of Zn, Cd and Pb in real samples was studied. • Zn, Cd and Pb could be sensitively measured as low as 90, 60 and 80 pg mL{sup −1}.

  14. Comparative effectiveness of a prenatal medical food to prenatal vitamins on hemoglobin levels and adverse outcomes: a retrospective analysis.

    Science.gov (United States)

    Bentley, Susan; Hermes, Amy; Phillips, Diane; Daoud, Yahya A; Hanna, Sylvia

    2011-02-01

    The role of folate in pregnancy is well established, with most prenatal vitamins (PNVs) on the market containing at least 800 μg of folic acid. Folic acid must be converted in the body to L-methylfolate, the natural and biologically active form of folate. The role of vitamin B(12) in pregnancy is less characterized, and most PNV formulations contain only 0 to 12 μg. The present study was undertaken to evaluate whether taking a prenatal medical food containing L-methylfolate and much higher doses of vitamin B(12) results in higher hemoglobin levels and thus, a lower incidence of anemia during pregnancy. The objective of this exploratory study was to evaluate the effects of the prenatal medical food versus standard PNVs on hemoglobin levels and adverse outcomes throughout pregnancy. For this retrospective analysis, we reviewed the charts of female patients taking either a prenatal medical food or standard PNV during pregnancy. Hemoglobin levels measured at initiation of prenatal care, end of second trimester, and delivery were recorded. Patients who had received additional iron supplementation, beyond that contained in the prenatal medical food or PNV they were taking and before anemia screening at the end of the second trimester, were excluded from the study. Fisher exact test, χ(2) test, student t test, and ANOVA were used to evaluate differences between the treatment groups. Data were analyzed from 112 charts: 58 patients (51.8%) were taking the prenatal medical food; 54 patients (48.2%) were taking standard PNVs. Mean (SD) age at first prenatal visit was 27 (4.6) years in the medical food group and 28.8 (3.5) years in the PNV group (P = 0.024). Mean (SD) body mass indices were 29.1 (6.5) and 31.7 (8.9) in the medical food and PNV groups, respectively (P = NS). In the medical food group, 35 women (60.3%) were white/Caucasian, 17 (29.3%) were African American, and 6 (10.4%) were of other races. In the PNV group, 24 women (44.4%) were white/Caucasian, 25 (46

  15. Application of noninvasive prenatal testing in the screening of fetal aneuploidy%无创产前基因检测在胎儿染色体非整倍体筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    梅瑾; 王小华; 王昊; 杨晓楠; 方锴; 韩渭

    2014-01-01

    目的 评估无创产前基因检测技术(noninvasive prenatal testing,NIPT)在胎儿染色体非整倍体产前筛查与诊断中的临床应用价值.方法 针对2012年5月至2013年4月在杭州市第一人民医院集团产前诊断中心就诊的高龄、唐氏生化筛查高风险和中等风险孕妇,采用高通量大规模平行测序方法进行胎儿染色体非整倍体的无创产前检测.对检测结果为高风险者进一步进行染色体核型分析,对检测结果为低风险的孕妇随访妊娠结局,评估NIPT对染色体非整倍体检测的敏感性和特异性.结果 2 358例检测孕妇中,高风险23例,染色体核型分析结果显示,NIPT检测21三体、18三体的敏感性为100%,检测13三体的敏感性为0.2 335例低风险妊娠结局随访,B超检查胎儿结构异常7例,未发现21三体综合征患儿出生.结论 NIPT对21三体、18三体综合征检测具有较高的敏感性和特异性.NIPT作为唐氏筛查的一种常规补充手段,可避免95%以上的唐氏生化筛查假阳性病例进行有创性的产前诊断.

  16. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues

    Directory of Open Access Journals (Sweden)

    Gekas J

    2016-02-01

    Full Text Available Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,7 1Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 2Department of Medical Biology, CHU de Québec, Québec City, QC, Canada; 3Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; 4Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada; 5Department of Obstetrics and Gynecology, Hospital Sainte-Justine, Montreal, QC, Canada; 6Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 7Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, QC, Canada Abstract: Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women. Keywords: prenatal diagnosis, Down syndrome, non-invasive prenatal testing, cell-free fetal DNA, informed consent, reproductive autonomy

  17. Importance of "Guidelines for performing fetal cardiac scan" in prenatal screening for fetal congenital heart disease%"胎儿心脏筛查指南"在产前超声筛查胎儿先天性心脏病中的应用价值

    Institute of Scientific and Technical Information of China (English)

    徐燕; 胡娅莉; 茹彤; 顾燕; 杨燕; 戴晨燕

    2009-01-01

    Objective To investigate the application of "Guidelines for performing fetal cardiac scan", issued by the International Society of Ultrasound in Obstetries and Gynecology in 2006, in prenatal screening of fetal congenital heart disease (CHD). Method Totally, 5000 singleton pregnancies presented at the Maternal-Fetal Medical Center of the Affiliated Drum Tower Hospital of Nanjing University Medical School from September 2006 to July 2007, for prenatal screening were included in this study, with the median maternal age of 28 ( range, 18~48 ) and the median gestation of 27 ( range, 18~40 ) weeks. Ultrasound screenings were performed on each fetal heart according to "Guidelines for performing fetal cardiac scan" via the four-chamber and outflow tracts & three-vessel views and fetal echocardiographies were further conducted for suspected cases. Once congenital heart disease was confirmed, amniocentesis or cordocentesis was suggested for fetal karyotyping for ongoing pregnancies and autopsy was performed when the pregnancy was terminated after formal consent. Bom babies were followed up at 2~6 months of age using echocardiography. Result The four-chamber views were successfully obtained in 97.64% (4882/5000) of all the pregnancies , among which the left ventricular and right ventricular outflow tracts and three-vessel views were obtained in 87.69% ( 4281/4882 ), 82.51% ( 4028/4882 ) and 96.29% ( 4701/4882 ), respectively. Higher successful rate was found in the second trimester than the third trimester in obtaining the standard views (P<0.05). Finally, 73 (1.50%) among the 4882 cases were diagnosed as CHD. Fifty of them were diagnosed prenatally (24 cases in the second trimester and 26 cases in the third trimester) and 23 were missed and 1 misdiagnosed by prenatal ultrasound. Eighteen cases were found with extracardiac malformations. Autopsy was performed in 19 CHD which diagnosed prenatally, and all autopsy reports were consistent with ultrasound foundings. Twelve

  18. Neurodevelopmental Outcomes of Prenatal Stress

    Directory of Open Access Journals (Sweden)

    M. Genco Usta

    2012-03-01

    Full Text Available The influence of prenatal stress on psychopathology has been observed in many animal and human studies. In many studies, stress during prenatal period has been shown to result in negative feedback dysregulation and hyperactivity of hypothalamo-pituitary-adrenocortical axis. Prenatal stres also may cause increased risk of birth complications, startle or distress in response to novel and surprising stimuli during infancy; lower Full Scale IQs, language abilities and attention deficiency in period of 3-5 years; increased risk of attention deficit hyperactivity syndrome, anxiety symptoms, depressive disorder and impulsivity during adolescence. Additionally, timing of prenatal stress is also important and 12-22 weeks of gestation seems to be the most vulnerable period. The results underline the need for early prevention and intervention programs for highly anxious women during pregnancy. Administration of prenatal stress monitoring to public health programs or removing pregnant women who have been exposed to life events such as natural disaster, terror attack to secure areas that provide basic needs may be crucial.

  19. Prenatal control of nondeletional α-thalassemia: first experience in mainland China.

    Science.gov (United States)

    Li, Jian; Li, Ru; Zhou, Jian-Ying; Xie, Xing-Mei; Liao, Can; Li, Dong-Zhi

    2013-09-01

    To demonstrate the performance of nondeletional α-thalassemia prevention at a mainland Chinese hospital. A prenatal control program for nondeletional hemoglobin H (Hb H) disease was conducted from January 2010 to June 2012. All couples were screened for α-thalassemia trait, and for couples in whom one partner was tested positive for α(0) -thalassemia, the other was subjected to screening for Hb Constant Spring and Hb Quong Sze mutations. Prenatal diagnoses were offered in pregnancies of couples at-risk for nondeletional Hb H disease. Of the 30,152 couples screened, 18 (0.06%) were diagnosed as at risk for nondeletional Hb H disease. There were other 13 at-risk couples who were referred to prenatal diagnosis because they had previously an affected child. Of the 31 cases with prenatal invasive tests, 11 (35.5%) had diagnosis by chorionic villous sampling, and 20 (64.5%) had amniocentesis. Totally, 12 fetuses were diagnosed with nondeletional Hb H disease, and all of the affected pregnancies were terminated. Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in southern China, and a number of nondeletional Hb H disease have been prevented during the past 3 years of operation. © 2013 John Wiley & Sons, Ltd.

  20. Prenatal treatment for serious neurological sequelae of congenital toxoplasmosis: an observational prospective cohort study.

    Directory of Open Access Journals (Sweden)

    Mario Cortina-Borja

    2010-10-01

    Full Text Available BACKGROUND: The effectiveness of prenatal treatment to prevent serious neurological sequelae (SNSD of congenital toxoplasmosis is not known. METHODS AND FINDINGS: Congenital toxoplasmosis was prospectively identified by universal prenatal or neonatal screening in 14 European centres and children were followed for a median of 4 years. We evaluated determinants of postnatal death or SNSD defined by one or more of functional neurological abnormalities, severe bilateral visual impairment, or pregnancy termination for confirmed congenital toxoplasmosis. Two-thirds of the cohort received prenatal treatment (189/293; 65%. 23/293 (8% fetuses developed SNSD of which nine were pregnancy terminations. Prenatal treatment reduced the risk of SNSD. The odds ratio for prenatal treatment, adjusted for gestational age at maternal seroconversion, was 0.24 (95% Bayesian credible intervals 0.07-0.71. This effect was robust to most sensitivity analyses. The number of infected fetuses needed to be treated to prevent one case of SNSD was three (95% Bayesian credible intervals 2-15 after maternal seroconversion at 10 weeks, and 18 (9-75 at 30 weeks of gestation. Pyrimethamine-sulphonamide treatment did not reduce SNSD compared with spiramycin alone (adjusted odds ratio 0.78, 0.21-2.95. The proportion of live-born infants with intracranial lesions detected postnatally who developed SNSD was 31.0% (17.0%-38.1%. CONCLUSION: The finding that prenatal treatment reduced the risk of SNSD in infected fetuses should be interpreted with caution because of the low number of SNSD cases and uncertainty about the timing of maternal seroconversion. As these are observational data, policy decisions about screening require further evidence from a randomized trial of prenatal screening and from cost-effectiveness analyses that take into account the incidence and prevalence of maternal infection. Please see later in the article for the Editors' Summary.

  1. [Communication skills for prenatal counselling].

    Science.gov (United States)

    Bitzer, J; Tschudin, S; Holzgreve, W; Tercanli, S

    2007-04-18

    Prenatal counselling is characterized by specific characteristics: A):The communication is about the values of the pregnant woman and her relationship with the child to be. B) The communication deals with patient's images and emotions. C) It is a communication about risks, numbers and statistics. D) Physician and patient deal with important ethical issues. In this specific setting of prenatal diagnosis and care physicians should therefore learn to apply basic principles of patient-centred communication with elements of non directive counselling, patient education and shared decision making. These elements are integrated into a process which comprises the following "steps": 1. Clarification of the patient's objectives and the obstetrician's mandate. 2. The providing of individualized information and education about prenatal tests and investigations. 3. Shared decision making regarding tests and investigations 4. Eventually Breaking (bad, ambivalent) news. 5. Caring for patients with an affected child.

  2. PRENATAL DIAGNOSIS IN ORGANIC ACIDEMIA

    Directory of Open Access Journals (Sweden)

    Hedieh SANEIFARD

    2012-03-01

    Full Text Available Organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.Because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.Three approaches to prenatal diagnosis may be possible, including measurement of analytes in amniotic fluid or use of cells obtained by Choronic Villus sampling (CVS or amniocentesis to either assay enzyme activity or extract DNA for molecular genetic testing.Biochemical genetic testing: Prenatal diagnosis for pregnancies at increased risk for propionic acidemia, methylmalonic acidemia, biotin-unresponsive3-methylcrotonyl-CoA carboxylase deficiency, glutaric acidemia type 1, ketothiolase deficiency, methylmalonic aciduria and homocystinuria, cblC type, and isovaleric acidemia is possible by analysis of amniotic fluid if highly accurate quantitative methods are used to measure the appropriate analytes. Amniocentesis is usually performed at approximately 15 to 18 weeks gestation.Prenatal diagnosis for pregnancies at increased risk for MSUD is possible by measurement of enzyme activity in fetal cells obtained by chorionic villous sampling(CVS at approximately ten to 12 weeks gestation or amniocentesis usually performed at approximately 15 to 18 weeks gestation.(If cells from CVS are used, extreme care must be taken to assure that they are fetal rather than maternal cells.Molecular genetic testing:Prenatal diagnosis for pregnancies at increased risk for all disorders is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at approximately 15 to 18 weeks of gestation or chorionic villous sampling (CVS at approximately ten to 12 weeks of gestation. Both disease-causing allels of an affected family member must be identified before prenatal testing.Preimplantation genetic diagnosis (PGD

  3. Prenatal prediction of pulmonary hypoplasia.

    Science.gov (United States)

    Triebwasser, Jourdan E; Treadwell, Marjorie C

    2017-03-15

    Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management. The objective of this review is to outline the imaging techniques that are widely used prenatally to assess pulmonary hypoplasia and to discuss the limitations of these methods.

  4. [Non-invasive prenatal testing: challenges for future implementation].

    Science.gov (United States)

    Henneman, Lidewij; Page-Chrisiaens, G C M L Lieve; Oepkes, Dick

    2015-01-01

    The non-invasive prenatal test (NIPT) is an accurate and safe test in which blood from the pregnant woman is used to investigate if the unborn child possibly has trisomy 21 (Down's syndrome), trisomy 18 (Edwards' syndrome) or trisomy 13 (Patau syndrome). Since April 2014 the NIPT has been available in the Netherlands as part of the TRIDENT implementation project for those in whom the first trimester combined test showed an elevated risk (> 1:200) of trisomy, or on medical indication, as an alternative to chorionic villous sampling or amniocentesis. Since the introduction of the NIPT the use of these invasive tests, which are associated with a risk of miscarriage, has fallen steeply. The NIPT may replace the combined test. Also the number of conditions that is tested for can be increased. Modification of current prenatal screening will require extensive discussion, but whatever the modification, careful counseling remains essential to facilitate pregnant women's autonomous reproductive decision making.

  5. Update on procedure-related risks for prenatal diagnosis techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Alfirevic, Zarko

    2010-01-01

    Introduction: As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures. Material and Methods: Review of the literature. Results: Data...... from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5-1.0% for amniocentesis as well as for chorionic villus sampling (CVS). In single-center studies performance may be remarkably good due...... not be performed before 15 + 0 weeks' gestation. CVS on the other hand should not be performed before 10 weeks' gestation due to a possible increase in risk of limb reduction defects. Discussion: Experienced operators have a higher success rate and a lower complication rate. The decreasing number of prenatal...

  6. Analysis of Triple Prenatal Serum Screening for Down Syndrome During the Second Trimester Pregnancy%孕中期唐氏综合征三联筛查的筛查效率分析

    Institute of Scientific and Technical Information of China (English)

    许佳; 刘轶; 牟凯

    2015-01-01

    目的:了解淄博市孕中期胎儿唐氏综合征的发生率,探讨孕中期血清学三联筛查策略仅仅针对唐氏儿的筛查效率,评价孕中期唐氏综合征三联筛查的临床应用价值。方法采用时间分辨免疫荧光法对9061例孕中期妇女的血清AFP、Free-β-HCG、uE33项指标进行检测,结合孕妇年龄、体重、孕周等因素,利用lifecycle 3.0软件计算胎儿患唐氏综合征的风险率,以1∶270作为高风险的切割值,并通过行无创产前检测、FISH或者羊水胎儿细胞染色体核型分析等技术对高风险孕妇给予确诊,对所有参与筛查孕妇的妊娠结局进行追访。结果①淄博市孕中期胎儿唐氏综合征发生率约为1/824,与文献报道活产新生儿唐氏儿发生率基本一致。②高龄孕妇(预产年龄≥35岁)怀有唐氏儿的机率较高约为1/172,不宜再进行产前筛查,应直接行无创产前检测或介入性产前诊断。③该筛查策略针对唐氏儿的检出率为72.7%,假阳性率为4.6%,筛查效率为1/53。结论该筛查策略在唐氏儿筛查方面临床应用价值较高,筛查软件中的参数适合淄博市孕中期妇女,但应结合增加筛查指标(NT、InhA)或者进行早中孕联合筛查的策略,进一步提高筛查效率。%Objective To explore the efficiency of triple serum screening of alpha- fetotrotein (AFP), free β-human chorionic go-nadotropiin (f-β-HCG) and unconjugated estriol (uE3) for Down syndrome (DS) during the second trimester pregnancy. Methods Serum AFP, fβ-HCG and uE3 of 9061 singleton pregnant women were detected by time-resolved fluorescence immunoassay and analyzed by lifecycle3.0 software. Triple serum screening were employed to evaluate fetal degrees of DS risk. Screening positive rates, detective rates, false positive rates and Odds of being affected given a positive result (OAPR)? were analyzed. Results The incidence of Down syndrome during the second trimester

  7. Lead Poison Detection

    Science.gov (United States)

    1976-01-01

    With NASA contracts, Whittaker Corporations Space Science division has developed an electro-optical instrument to mass screen for lead poisoning. Device is portable and detects protoporphyrin in whole blood. Free corpuscular porphyrins occur as an early effect of lead ingestion. Also detects lead in urine used to confirm blood tests. Test is inexpensive and can be applied by relatively unskilled personnel. Similar Whittaker fluorometry device called "drug screen" can measure morphine and quinine in urine much faster and cheaper than other methods.

  8. Prenatal cocaine exposure uncouples mGluR1 from Homer1 and Gq Proteins.

    Directory of Open Access Journals (Sweden)

    Kalindi Bakshi

    Full Text Available Cocaine exposure during gestation causes protracted neurobehavioral changes consistent with a compromised glutamatergic system. Although cocaine profoundly disrupts glutamatergic neurotransmission and in utero cocaine exposure negatively affects metabotropic glutamate receptor-type 1 (mGluR1 activity, the effect of prenatal cocaine exposure on mGluR1 signaling and the underlying mechanism responsible for the prenatal cocaine effect remain elusive. Using brains of the 21-day-old (P21 prenatal cocaine-exposed rats, we show that prenatal cocaine exposure uncouples mGluR1s from their associated synaptic anchoring protein, Homer1 and signal transducer, Gq/11 proteins leading to markedly reduced mGluR1-mediated phosphoinositide hydrolysis in frontal cortex (FCX and hippocampus. This prenatal cocaine-induced effect is the result of a sustained protein kinase C (PKC-mediated phosphorylation of mGluR1 on the serine residues. In support, phosphatase treatment of prenatal cocaine-exposed tissues restores whereas PKC-mediated phosphorylation of saline-treated synaptic membrane attenuates mGluR1 coupling to both Gq/11 and Homer1. Expression of mGluR1, Homer1 or Gα proteins was not altered by prenatal cocaine exposure. Collectively, these data indicate that prenatal cocaine exposure triggers PKC-mediated hyper-phosphorylation of the mGluR1 leading to uncoupling of mGluR1 from its signaling components. Hence, blockade of excessive PKC activation may alleviate abnormalities in mGluR1 signaling and restores mGluR1-regulated brain functions in prenatal cocaine-exposed brains.

  9. Prenatal cocaine exposure uncouples mGluR1 from Homer1 and Gq Proteins.

    Science.gov (United States)

    Bakshi, Kalindi; Parihar, Raminder; Goswami, Satindra K; Walsh, Melissa; Friedman, Eitan; Wang, Hoau-Yan

    2014-01-01

    Cocaine exposure during gestation causes protracted neurobehavioral changes consistent with a compromised glutamatergic system. Although cocaine profoundly disrupts glutamatergic neurotransmission and in utero cocaine exposure negatively affects metabotropic glutamate receptor-type 1 (mGluR1) activity, the effect of prenatal cocaine exposure on mGluR1 signaling and the underlying mechanism responsible for the prenatal cocaine effect remain elusive. Using brains of the 21-day-old (P21) prenatal cocaine-exposed rats, we show that prenatal cocaine exposure uncouples mGluR1s from their associated synaptic anchoring protein, Homer1 and signal transducer, Gq/11 proteins leading to markedly reduced mGluR1-mediated phosphoinositide hydrolysis in frontal cortex (FCX) and hippocampus. This prenatal cocaine-induced effect is the result of a sustained protein kinase C (PKC)-mediated phosphorylation of mGluR1 on the serine residues. In support, phosphatase treatment of prenatal cocaine-exposed tissues restores whereas PKC-mediated phosphorylation of saline-treated synaptic membrane attenuates mGluR1 coupling to both Gq/11 and Homer1. Expression of mGluR1, Homer1 or Gα proteins was not altered by prenatal cocaine exposure. Collectively, these data indicate that prenatal cocaine exposure triggers PKC-mediated hyper-phosphorylation of the mGluR1 leading to uncoupling of mGluR1 from its signaling components. Hence, blockade of excessive PKC activation may alleviate abnormalities in mGluR1 signaling and restores mGluR1-regulated brain functions in prenatal cocaine-exposed brains.

  10. Prenatal care effectiveness and utilization in Brazil.

    Science.gov (United States)

    Wehby, George L; Murray, Jeffrey C; Castilla, Eduardo E; Lopez-Camelo, Jorge S; Ohsfeldt, Robert L

    2009-05-01

    The impact of prenatal care use on birth outcomes has been understudied in South American countries. This study assessed the effects of various measures of prenatal care use on birth weight (BW) and gestational age outcomes using samples of infants born without and with common birth defects from Brazil, and evaluated the demand for prenatal care. Prenatal visits improved BW in the group without birth defects through increasing both fetal growth rate and gestational age, but prenatal care visits had an insignificant effect on BW in the group with birth defects when adjusting for gestational age. Prenatal care delay had no effects on BW in both infant groups but increased preterm birth risk in the group without birth defects. Inadequate care versus intermediate care also increased LBW risk in the group without birth effects. Quantile regression analyses revealed that prenatal care visits had larger effects at low compared with high BW quantiles. Several other prenatal factors and covariates such as multivitamin use and number of previous live births had significant effects on the studied outcomes. The number of prenatal care visits was significantly affected by several maternal health and fertility indicators. Significant geographic differences in utilization were observed as well. The study suggests that more frequent use of prenatal care can increase BW significantly in Brazil, especially among pregnancies that are uncomplicated with birth defects but that are at high risk for low birth weight. Further research is needed to understand the effects of prenatal care use for pregnancies that are complicated with birth defects.

  11. Role of thalassemia screening in prevention and control of thalassemia - a 5 year experience

    OpenAIRE

    Suman Lata Mendiratta; Meenakshi Mittal; Farha Naaz; Sompal Singh; Smriti Anand

    2016-01-01

    Background: Thalassemia is a commonest genetic blood disorder in India which can be prevented by antenatal screening and prenatal diagnosis. Aim of the study was to screen antenatal women and their spouses to detect and ldquo;couples at risk and rdquo; of thalassemia major births and offering them genetic counseling and option of prenatal diagnosis thereby preventing the birth of thalassemia major babies. Methods: Thalassemia screening for antenatal women was done by NESTROFT test and RBC...

  12. Prenatal meditation influences infant behaviors.

    Science.gov (United States)

    Chan, Ka Po

    2014-11-01

    Meditation is important in facilitating health. Pregnancy health has been shown to have significant consequences for infant behaviors. In view of limited studies on meditation and infant temperament, this study aims to explore the effects of prenatal meditation on these aspects. The conceptual framework was based on the postulation of positive relationships between prenatal meditation and infant health. A randomized control quantitative study was carried out at Obstetric Unit, Queen Elizabeth Hospital in Hong Kong. 64 pregnant Chinese women were recruited for intervention and 59 were for control. Outcome measures were cord blood cortisol, infant salivary cortisol, and Carey Infant Temperament Questionnaire. Cord blood cortisol level of babies was higher in the intervention group (pmeditation can influence fetal health. Carey Infant Temperament Questionnaire showed that the infants of intervention group have better temperament (pmeditation in relation to child health. Present study concludes the positive effects of prenatal meditation on infant behaviors and recommends that pregnancy care providers should provide prenatal meditation to pregnant women.

  13. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  14. Women's opinions of legal requirements for drug testing in prenatal care.

    Science.gov (United States)

    Tucker Edmonds, Brownsyne; Mckenzie, Fatima; Austgen, MacKenzie B; Carroll, Aaron E; Meslin, Eric M

    2017-07-01

    To explore women's attitudes and perceptions regarding legal requirements for prenatal drug testing. Web-based survey of 500 US women (age 18-45) recruited from a market research survey panel. A 24-item questionnaire assessed their opinion of laws requiring doctors to routinely verbal screen and urine drug test patients during pregnancy; recommendations for consequences for positive drug tests during pregnancy; and opinion of laws requiring routine drug testing of newborns. Additional questions asked participants about the influence of such laws on their own care-seeking behaviors. Data were analyzed for associations between participant characteristics and survey responses using Pearson's chi-squared test. The majority of respondents (86%) stated they would support a law requiring verbal screening of all pregnant patients and 73% would support a law requiring universal urine drug testing in pregnancy. Fewer respondents were willing to support laws that required verbal screening or urine drug testing (68% and 61%, respectively) targeting only Medicaid recipients. Twenty-one percent of respondents indicated they would be offended if their doctors asked them about drug use and 14% indicated that mandatory drug testing would discourage prenatal care attendance. Women would be more supportive of policies requiring universal rather than targeted screening and testing for prenatal drug use. However, a noteworthy proportion of women would be discouraged from attending prenatal care - a reminder that drug testing policies may have detrimental effects on maternal child health.

  15. Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part II - Women's Perspectives

    NARCIS (Netherlands)

    van Schendel, Rachel V; Page-Christiaens, Lieve; Beulen, Lean; Bilardo, Catia M; de Boer, Marjon A; Coumans, Audrey B C; Faas, Brigitte H; van Langen, Irene M; Lichtenbelt, Klaske D; van Maarle, Merel C; Macville, Merryn V E; Oepkes, Dick; Pajkrt, Eva; Henneman, Lidewij

    2016-01-01

    OBJECTIVE: To evaluate preferences and decision-making amongst high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. METHODS: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at in

  16. Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. : Part II - Women's Perspectives

    NARCIS (Netherlands)

    van Schendel, Rachel V; Page-Christiaens, Lieve; Beulen, Lean; Bilardo, Catia M; de Boer, Marjon A; Coumans, Audrey B C; Faas, Brigitte H; van Langen, Irene M; Lichtenbelt, Klaske D; van Maarle, Merel C; Macville, Merryn V E; Oepkes, Dick; Pajkrt, Eva; Henneman, Lidewij

    2016-01-01

    OBJECTIVE: To evaluate preferences and decision-making amongst high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. METHODS: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at in

  17. Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

    DEFF Research Database (Denmark)

    László, Aranka; Endreffy, Emoke; Tümer, Zeynep

    2010-01-01

    from MD and prenatal diagnosis was done in this MD loaded family. METHOD: The 12th exon of ATP7A gene has been analyzed by dideoxy-finger printing (DDF), polymerase chain reaction (PCR), direct sequencing of exon 12. The specific mutation was screened from chorionic villi of the maternal aunt at the 14...

  18. Incidental prenatal diagnosis of sex chromosome aneuploidies: health, behavior, and fertility.

    NARCIS (Netherlands)

    Pieters, J.J.; Kooper, A.J.A.; Geurts van Kessel, A.H.M.; Braat, D.D.M.; Smits, A.P.T.

    2011-01-01

    Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal

  19. The application value of spatiotemporal image correlation combined with tomographic ultrasound imaging in prenatal screening of common cardiac malposition%时间空间相关成像技术联合断层超声显像技术在产前筛查常见心脏位置异常中的应用价值

    Institute of Scientific and Technical Information of China (English)

    吴娟; 栗河舟; 丛娟; 刘云

    2012-01-01

    目的:探讨时间空间相关成像技术联合断层超声显像技术(TUI-STIC技术)在产前筛查常见心脏位置异常中的临床应用价值.方法:应用时间空间相关成像技术采集胎儿心脏的容积图像,再应用断层超声显像技术进行分析,要求清晰显示上腹部横切面及四腔心切面并标明左右方位.结果:199例心脏位置异常胎儿心脏容积数据经断层超声显像技术处理均获得满意的上腹部横切面及四腔心切面.其中右位心67例;左旋心5例;中位心7例;异位心2例;心脏移位107例;心脏异构11例.结论:判断胎儿心脏位置的主要切面是上腹部横切面和四腔心切面.时间空间相关成像技术联合断层超声显像技术简易、准确,可作为产前筛查胎儿心脏位置异常的有效方法.%Objective; To explore the clinical application value of spatiotemporal image correlation combined with tomographic ultrasound imaging (STIC -TUI technique) in prenatal screening of common cardiac malposition. Methods; STIC technique was used to collect fetal cardiac volume images, then TUI technique was used for analysis, the transverse section through the upper abdominal portion and four - chamber view were displayed clearly, and the positions were indicated. Results; Satisfactory transverse section through the upper abdominal portion and four - chamber view were obtained after analyzing the data of fetal cardiac volume of 199 cases with fetal cardiac malposition by TUI technique. Sixty -seven cases with dextrocardia, five cases with levoverted heart, seven cases with mesocardia, two cases with exocardia, one hundred and seven cases with displacement of heart, and eleven cases with heterogeneous heart were found. Conclusion; The main views to judge fetal cardiac position include transverse section through the upper abdominal portion and four - chamber view, STIC - TUI technique is simple and accurate, which can be used as an effective method for

  20. 唐氏综合征筛查临界风险的产前诊断结果分析及临床意义探讨%Analysis and clinical significance of prenatal diagnosis results in pregnant women with critical value in Down ’s syndrome screening

    Institute of Scientific and Technical Information of China (English)

    游雪云; 刘艳秋; 吴敏

    2014-01-01

    目的:探讨孕中期唐氏筛查临界风险的孕妇行介入性产前诊断对检出胎儿异常和降低出生缺陷的作用。方法利用时间分辨荧光免疫分析仪,对孕15~20+6周孕妇进行血清生化标志物甲胎蛋白(AFP)、游离雌三醇(uE3)和绒毛膜促性腺激素(β-HCG)浓度测定,结合孕妇年龄、孕周、体重、既往妊娠史、有无糖尿病、吸烟等因素,运用LifeCycle风险评估软件计算风险率,对临界风险孕妇在知情同意的情况下行羊水穿刺,进行染色体检查,并追踪其产后情况。结果筛查11062例孕妇,共筛出临界风险孕妇685例,其中257例行羊水穿刺染色体核型分析,彩超畸形筛查和定期随访确认,10例存在染色体异常。结论对孕中期临界风险孕妇进行介入性产前诊断,有利于提高胎儿唐氏综合征的检出率,降低漏诊率,从而有效地降低唐氏儿的出生率。%Objective To explore the effects of interventional prenatal diagnosis for fetal anomaly detection and birth defects reducing in pregnant women with critical value in Down’s syndrome screening. Methods The levels of serum biochemical mark-ers AFP, free estriol (uE3) and human chorionic gonadotropin (beta HCG) were detected by time-resolved fluorescence immunoas-say analyzer in pregnant women (15~20+6 weeks) . Maternal age, gestational age, weight, pregnancy history, the presence of dia-betes, smoking and other factors were combined to calculate the risk using the LifeCycle risk assessment software. Chromosome examination was performed after amniotic fluid puncture in pregnant women with critical value. Results A total of 685 cases of 11062 pregnant women were screened as critical risk, 257 of whom were performed karyotype analysis and at last 10 cases were confirmed as chromosomal abnormalities. Conclusion The interventional prenatal diagnosis for the pregnant women with critical risk is benefit to diagnose Down's syndrome and

  1. 黑龙江地区15549例孕中期母体血清产前筛查及结果分析%Result analysis of prenatal screening for Down syndrome in 15 549 mid-preg-nancy woman in Heilongjiang

    Institute of Scientific and Technical Information of China (English)

    卢秀敏; 张蕊; 刘羽; 王超; 张玉红; 陈萱

    2014-01-01

    目的:探讨孕妇孕中期(15~20+6周)血清标志物甲胎蛋白(α-fetoprotein,AFP)、人绒毛膜促性腺激素游离的β亚基(f-βHCG)和游离雌三醇(uE3)在胎儿唐氏综合征(DS)、18-三体综合征和开放性神经管畸形( open neural tube malformation,NTD)筛查中的应用。方法采用时间分辨免疫荧光技术检测孕妇血清中AFP、F-βHCG和uE3的浓度(三联法),结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病史、吸烟史等因素,采用评估软件计算胎儿患DS、18-三体综合征和NTD的风险概率。结果对15549例孕妇筛查结果进行分析,DS高危孕妇782例,阳性率5.03%;18-三体综合征高危孕妇59例,阳性率0.38%;开放性神经管缺陷高危孕妇84例,阳性率0.54%。经羊水穿刺细胞培养确诊DS 9例,18-三体综合征7例,其他染色体异常10例,经超声确诊NTD 6例。结论对孕中期孕妇进行AFP、f-βHCG和uE3联合筛查能够提高唐氏综合征、18-三体综合征和开放性神经管缺陷患儿的检出率,显著降低需要进行创伤性产前诊断的孕妇比例,是预防唐氏综合征患儿出生的重要途径。%Objective To investigate the application of prenatal screening for Down syndrome ( DS) , trisomy 18 syndrome and neural tube defects ( NTD) by detecting serum α-fetoprotein ( AFP ) , free β-HCG ( f-βHCG ) and free estriol in pregnant woman ( 15 ~20 +6 weeks ) . Methods Serum AFP, free β-HCG ( f-βHCG ) and unconjugated estriol ( uE3 ) concentra-tions in pregnant woman were detected by time-resolved fluoroimmunoassay.Then the risk was evaluated by use of statistical software combined with age, gestational weeks, weight, always unusually gravid history, without diabetic, smoking history and other factors.Results Among 15 549 pregnant women, 782 pregnant women were found with high risk of Down syndrome, accounting for 5.03%;59 pregnant women were found with

  2. 联合采用连锁分析和突变检测进行苯丙酮尿症的产前基因诊断%Prenatal genetic diagnosis for phenylketonuria families by combination of linkage analysis and mutation screening

    Institute of Scientific and Technical Information of China (English)

    胡浩; 王华; 唐华; 胡蓉; 周莹; 谢琼; 马力

    2011-01-01

    目的 为经典型苯丙酮尿症(phenylketonuria,PKU)家系提供产前基因诊断.方法 联合采用短串联重复片段(short tandem repeats,STR)多态连锁分析和聚合酶链反应技术扩增苯丙氨酸羟化酶基因突变热区外显子直接测序,对3个经典型PKU先证者及家系成员进行综合分析.结果 家系1的STR连锁分析不能提供遗传信息,家系2、家系3可提供100%信息.突变检测共发现3个先证者均为苯丙氨酸羟化酶基因复合杂合突变,共检测到5种突变:Y166X、R243Q、R413P、EX6-96A>G和IVS11-1G>C,其中IVS11-1G>C为国际首次报道的新突变.综合连锁分析和突变检测结果,确定家系1和家系2胎儿为PKU患者,家系3胎儿正常.结论 联合连锁分析和苯丙氨酸羟化酶基因突变检测,可为PKU家系提供可靠的产前诊断服务.%Objective To explore the prenatal genetic diagnosis for classic phenylketonuria (PKU) families.Methods Probands and their family members from three classic PKU families were analyzed by combining linkage analysis through short tandem repeats (STR) polymorphism and PCR-sequencing for the exons within mutation hot spot of phenylalanine hydroxylase gene.Results Linkage analysis found uninformative for Family 1,while 100 % confirmative information was obtained from Family 2 and 3.Sequencing showed compound heterozygous mutations of phenylalanine hydroxylase gene for all of the three probands.Five mutations were detected,namely Y166X,R243Q,R413P,EX6-96A > G and IVS11-1G> C,and IVS11-1G > C was a novel identified muntation.Information from linkage analysis and mutation screening showed clearly that the fetus of Family 1 and 2 were affected,while normal for Family 3.Conclusions For those PKU families,reliable service of prenatal genetic diagnosis could be provided by combining linkage analysis with mutation screening of phenylalanine hydroxylase gene.

  3. Prenatal testing for hemolytic disease of the newborn and fetal neonatal alloimmune thrombocytopenia - current status.

    Science.gov (United States)

    Avent, Neil D

    2014-12-01

    Incompatibility of red cell and platelet antigens can lead to maternal alloimmunization causing hemolytic disease of the fetus & newborn and fetal neonatal alloimmune thrombocytopenia respectively. As the molecular background of these polymorphisms emerged, prenatal testing using initially fetal DNA obtained from invasively obtained amniotic fluid or chorionic villus was implemented. This evolved into testing using maternal plasma as source of fetal DNA, and this is in routine use as a safe non-invasive diagnostic that has no risk to the fetus of alloimmunization or spontaneous miscarriage. These tests were initially applied to high risk pregnancies, but has been applied on a mass scale, to screen fetuses in D-negative pregnant populations as national screening programs. Fetal neonatal alloimmune thrombocytopenia management has had comparatively small take up in non-invasive testing for causative fetal platelet alleles (e.g., HPA-1A), but mass scale genotyping of mothers to identify at risk HPA-1b1b pregnancies and their treatment with prophylactic anti-HPA-1A is being considered in at least one country (Norway).

  4. [Introduction of rapid syphilis and HIV testing in prenatal care in Colombia: qualitative analysis].

    Science.gov (United States)

    Ochoa-Manjarrés, María Teresa; Gaitán-Duarte, Hernando Guillermo; Caicedo, Sidia; Gómez, Berta; Pérez, Freddy

    2016-12-01

    Interpret perceptions of Colombian health professionals concerning factors that obstruct and facilitate the introduction of rapid syphilis and HIV testing in prenatal care services. A qualitative study based on semi-structured interviews was carried out. A convenience sample was selected with 37 participants, who included health professionals involved in prenatal care services, programs for pregnant women, clinical laboratories, and directors of health care units or centers, as well as representatives from regional departments and the Ministry of Health. Colombia does not do widespread screening with rapid syphilis and HIV tests in prenatal care. The professionals interviewed stated they did not have prior experience in the use of rapid tests-except for laboratory staff-or in the course of action in response to a positive result. The insurance system hinders access to timely diagnosis and treatment. Health authorities perceive a need to review existing standards, strengthen the first level of care, and promote comprehensive prenatal care starting with contracts between insurers and health service institutional providers. Participants recommended staff training and integration between health-policymaking and academic entities for updating training programs. The market approach and the characteristics of the Colombian health system constitute the main barriers to implementation of rapid testing as a strategy for elimination of mother-to-child transmission of syphilis and HIV. Measures identified include making changes in contracts between insurers and health service institutional providers, adapting the timing and duration of prenatal care procedures, and training physicians and nurses involved in prenatal care.

  5. The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

    Science.gov (United States)

    Han, Hyun Ho; Choi, Eun Jeong; Kim, Ji Min; Shin, Jong Chul

    2016-01-01

    Background The prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P) and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center. Methods The multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation. Results The abortion rate was 28% (3/11). The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91%) reported that they were satisfied with the multidisciplinary management in our center. Conclusions Although a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy. PMID:27019808

  6. The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

    Directory of Open Access Journals (Sweden)

    Hyun Ho Han

    2016-03-01

    Full Text Available BackgroundThe prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center.MethodsThe multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation.ResultsThe abortion rate was 28% (3/11. The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91% reported that they were satisfied with the multidisciplinary management in our center.ConclusionsAlthough a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy.

  7. Analysis of the Effect of the Application of Four-dimensional Color Doppler Ultrasound in Prenatal Screening of Fetal Malformation%产前胎儿畸形筛查中四维彩超的应用效果分析

    Institute of Scientific and Technical Information of China (English)

    纪亚梅; 王文俊

    2016-01-01

    目的:探讨产前胎儿畸形筛查中四维彩超的应用效果。方法方便选取2013年1月—2016年2月在该院进行产前筛查的2200例中晚期孕妇作为研究对象,分别对其进行二维彩超及四维彩超检查,根据胎儿出生后情况或引产结果对二维彩超及四维彩超的检出率进行比较。结果二维彩超对胎儿畸形的检出率为76.92%(40/52),四维彩超对胎儿畸形的检出率为96.15%(50/52),四维彩超对胎儿畸形的检出率明显高于二维彩超(P﹤0.01)。结论与二维彩超相比,四维彩超在胎儿畸形检出方面具有明显优势,值得临床推广应用。%Objective To investigate the application effect of four dimensional color Doppler ultrasound in prenatal screen-ing of fetal malformation. Methods 2 200 cases of advanced pregnant women from January 2013 to February 2016 in our hospital were selected as research subjects. Two dimensional color Doppler ultrasound and four-dimensional color Doppler ultrasound examination were carried out on them. According to the results of the fetus after birth or induction of labor, the detection rate of two-dimensional color Doppler ultrasound and four-dimensional color Doppler ultrasound were compared. Results The detection rate of two-dimensional color Doppler ultrasound for fetal malformation was 76.92%(40/52), while that of four-dimensional color Doppler ultrasound was 96.15%(50/52). Thus the detection rate of four-dimensional color Doppler ultrasound was obviously higher than that of two-dimensional color Doppler ultrasound(P﹤0.01). Conclusion Com-pared with two-dimensional ultrasound, four-dimensional color Doppler ultrasound in the detection of fetal abnormalities has obvious advantages, which is worth clinical application.

  8. Prenatal education for congenital toxoplasmosis.

    Science.gov (United States)

    Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

    2015-10-23

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

  9. Screen time and children

    Science.gov (United States)

    ... obesity ) Screen time increases your child's risk of obesity because: Sitting and watching a screen is time that is not spent being physically active. TV commercials and other screen ads can lead to unhealthy food choices . Most of the time, the foods in ads ...

  10. Serum marker screening during the second trimester for prenatal diagnosis and predicting pregnancy outcome%孕中期血清学筛查在产前诊断及妊娠结局预测中的应用

    Institute of Scientific and Technical Information of China (English)

    杨岚; 赵丽; 江静颖; 刘俊; 陶荷花; 王俊; 吴金保

    2015-01-01

    目的:评价中孕期产前血清学筛查在产前诊断及妊娠结局预测中的应用价值。方法应用时间分辨荧光免疫法(DELFIA)对2011~2013年在我院产检的25520例中孕期单胎妊娠孕妇进行free-β-HCG、µE3、AFP三联血清学指标检测,对筛查高风险者进行羊水穿刺产前诊断,对开放性神经管缺陷(NTD)高风险者进行多普勒超声检查确诊,并随访其妊娠结局。结果25520例产前筛查孕妇中,共筛出高风险1254例(4.91%),818例行介入性产前诊断者染色体结果异常共47例(5.75%)。随访结果显示筛查高风险人群不良妊娠结局发生率为1.91%(24/1254),显著高于筛查低风险人群的0.1%(25/24256),差异有统计学意义(P35 years) was associated with increased risks for trisomy 21 compared with those at younger ages (15% vs 1.65%, P<0.01). The detection rate of abnormal karyotypes in pregnancies with an abnormal MoM value of a single marker was 3.17% (6/189). Conclusion Screening tests of serum markers during the second trimester of pregnancy can be helpful to identify fetal chromosomal and anatomical anomalies, predict unfavorable pregnancy outcomes, and prevent birth defects in pregnancies at an advanced age. The MoM value of a single marker in the second trimester can be indicative of potential chromosomal abnormalities.

  11. Reduced Intellectual Development in Children with Prenatal Lead Exposure

    National Research Council Canada - National Science Library

    Lourdes Schnaas; Stephen J. Rothenberg; Maria-Fernanda Flores; Sandra Martinez; Carmen Hernandez; Erica Osorio; Silvia Ruiz Velasco; Estela Perroni

    .... We statistically evaluated dose-response nonlinearity. Participants: A cohort of 175 children, 150 of whom had complete data for all included covariates, attended the National Institute of Perinatology in Mexico City from 1987 through 2002...

  12. Prenatal nutrition, epigenetics and schizophrenia risk: can we test causal effects?

    Science.gov (United States)

    Kirkbride, James B; Susser, Ezra; Kundakovic, Marija; Kresovich, Jacob K; Davey Smith, George; Relton, Caroline L

    2012-06-01

    We posit that maternal prenatal nutrition can influence offspring schizophrenia risk via epigenetic effects. In this article, we consider evidence that prenatal nutrition is linked to epigenetic outcomes in offspring and schizophrenia in offspring, and that schizophrenia is associated with epigenetic changes. We focus upon one-carbon metabolism as a mediator of the pathway between perturbed prenatal nutrition and the subsequent risk of schizophrenia. Although post-mortem human studies demonstrate DNA methylation changes in brains of people with schizophrenia, such studies cannot establish causality. We suggest a testable hypothesis that utilizes a novel two-step Mendelian randomization approach, to test the component parts of the proposed causal pathway leading from prenatal nutritional exposure to schizophrenia. Applied here to a specific example, such an approach is applicable for wider use to strengthen causal inference of the mediating role of epigenetic factors linking exposures to health outcomes in population-based studies.

  13. Unrecognized Ingestion of Toxoplasma gondii Oocysts Leads to Congenital Toxoplasmosis and Causes Epidemics in North America

    OpenAIRE

    Boyer, Kenneth; Hill, Dolores; Mui, Ernest; Wroblewski, Kristen; Karrison, Theodore; Dubey, J. P.; SAUTTER, MARI; Noble, A. Gwendolyn; Withers, Shawn; Swisher, Charles; Heydemann, Peter; Hosten, Tiffany; Babiarz, Jane; Lee, Daniel; Meier, Paul

    2011-01-01

    Undetected contamination of food and water by oocysts causes human infections in North America. Risks often are unrecognized. Education alone cannot prevent suffering and economic consequences associated with congenital toxoplasmosis. Prenatal screening can facilitate prevention and treatment of congenital toxoplasmosis.

  14. Absence of prenatal ultrasound surveillance: Data from the Portuguese congenital anomalies registry.

    Science.gov (United States)

    Correia, Sandrina; Machado, Ausenda; Braz, Paula; Rodrigues, Ana Paula; Matias-Dias, Carlos

    2016-06-01

    In Portugal, prenatal care guidelines advocate two prenatal ultrasound scans for all pregnant women. Not following this recommendation is considered inadequate prenatal surveillance. The National Registry of Congenital Anomalies (RENAC in Portuguese) is an active population-based registry and an important instrument for the epidemiological surveillance of congenital anomalies (CA) in Portugal. Regarding pregnancies with CA, this study aims to describe the epidemiology of absent prenatal ultrasound scans and factors associated with this inadequate surveillance. A cross-sectional comparative study from 2008 to 2013 was carried out using data from RENAC. Associations of nonuptake of prenatal ultrasound screening with socio-demographic health behaviors and obstetric history data were evaluated using multiple logistic regression. Potential confounders were investigated and included if they changed the crude odds ratio estimate by at least 10% after adjustment by the Mantel-Haenszel method. The statistical significance level was set at 5%. Overall, 6090 notifications of congenital anomalies were reported to RENAC, and 2% of the pregnant women reported no prenatal ultrasound screening surveillance. These women were on average aged 30.0 years, and 52.8% had no professional occupation. The odds of not performing an ultrasound scan during their pregnancy increased 2.47 times with lack of professional activity, 4.67 times in non-Caucasian women, and decreased 46% for any previous miscarriage. For pregnant women who did not receive an ultrasound screening examination during pregnancy, the strongest statistically associated factors were professional occupation, ethnicity, and number of miscarriages in previous gestations. Birth Defects Research (Part A) 106:489-493, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  15. The natural history of prenatally diagnosed conjoined twins.

    Science.gov (United States)

    Mackenzie, Tippi C; Crombleholme, Timothy M; Johnson, Mark P; Schnaufer, Louise; Flake, Alan W; Hedrick, Holly L; Howell, Lori J; Adzick, N Scott

    2002-03-01

    Accurate prenatal diagnosis of complex anatomic connections and associated anomalies has only been possible recently with the use of ultrasonography, echocardiography, and fetal magnetic resonance imaging (MRI). To assess the impact of improved antenatal diagnosis in the management and outcome of conjoined twins, the authors reviewed their experience with 14 cases. A retrospective review of prenatally diagnosed conjoined twins referred to our institution from 1996 to present was conducted. In 14 sets of conjoined twins, there were 10 thoracoomphalopagus, 2 dicephalus tribrachius dipus, 1 ischiopagus, and 1 ischioomphalopagus. The earliest age at diagnosis was 9 weeks' gestation (range, 9 to 29; mean, 20). Prenatal imaging with ultrasonography, echocardiography, and ultrafast fetal MRI accurately defined the shared anatomy in all cases. Associated anomalies included cardiac malformations (11 of 14), congenital diaphragmatic hernia (4 of 14), abdominal wall defects (2 of 14), and imperforate anus (2 of 14). Three sets of twins underwent therapeutic abortion, 1 set of twins died in utero, and 10 were delivered via cesarean section at a mean gestational age of 34 weeks. There were 5 individual survivors in the series after separation (18%). In one case, in which a twin with a normal heart perfused the cotwin with a rudimentary heart, the ex utero intrapartum treatment procedure (EXIT) was utilized because of concern that the normal twin would suffer immediate cardiac decompensation at birth. This EXIT-to-separation strategy allowed prompt control of the airway and circulation before clamping the umbilical cord and optimized control over a potentially emergent situation, leading to survival of the normal cotwin. In 2 sets of twins in which each twin had a normal heart, tissue expanders were inserted before separation. Advances in prenatal diagnosis allow detailed, accurate evaluations of conjoined twins. Careful prenatal studies may uncover cases in which emergent

  16. Non-invasive prenatal testing for single gene disorders: exploring the ethics.

    Science.gov (United States)

    Deans, Zuzana; Hill, Melissa; Chitty, Lyn S; Lewis, Celine

    2013-07-01

    Non-invasive prenatal testing for single gene disorders is now clearly on the horizon. This new technology offers obvious clinical benefits such as safe testing early in pregnancy. Before widespread implementation, it is important to consider the possible ethical implications. Four hypothetical scenarios are presented that highlight how ethical ideals of respect for autonomy, privacy and fairness may come into play when offering non-invasive prenatal testing for single gene disorders. The first scenario illustrates the moral case for using these tests for 'information only', identifying a potential conflict between larger numbers of women seeking the benefits of the test and the wider social impact of funding tests that do not offer immediate clinical benefit. The second scenario shows how the simplicity and safety of non-invasive prenatal testing could lead to more autonomous decision-making and, conversely, how this could also lead to increased pressure on women to take up testing. In the third scenario we show how, unless strong safeguards are put in place, offering non-invasive prenatal testing could be subject to routinisation with informed consent undermined and that woman who are newly diagnosed as carriers may be particularly vulnerable. The final scenario introduces the possibility of a conflict of the moral rights of a woman and her partner through testing for single gene disorders. This analysis informs our understanding of the potential impacts of non-invasive prenatal testing for single gene disorders on clinical practice and has implications for future policy and guidelines for prenatal care.

  17. Invasive prenatal diagnostic practice in Denmark 1996 to 2006

    DEFF Research Database (Denmark)

    Vestergaard, Christina H F; Lidegaard, Øjvind; Tabor, Ann

    2009-01-01

    The Danish National Board of Health recommended in 2004 routine ultrasound scanning in week 12 with nuchal translucency measurement, combined with the double test to all pregnant women. Those who were found to have a risk of trisomy 21 higher than 1:300 were offered amniocentesis or chorionic...... to 52%. The mean gestational age at which the procedures were done increased--for CVS from week 11 to 13, and for amniocentesis from week 16 to 17. We thus achieved to more than double the offer of prenatal screening and at the same time reduce the number of invasive procedures by 55%....

  18. Maternal depression and neurobehavior in newborns prenatally exposed to methamphetamine

    Science.gov (United States)

    Paz, Monica S.; Smith, Lynne M.; LaGasse, Linda L.; Derauf, Chris; Grant, Penny; Shah, Rizwan; Arria, Amelia; Huestis, Marilyn; Haning, William; Strauss, Arthur; Grotta, Sheri Della; Liu, Jing; Lester, Barry M.

    2009-01-01

    Background The effects of maternal depression on neonatal neurodevelopment in MA exposed neonates have not been well characterized. Objective To determine the neurobehavioral effects of maternal depressive symptoms on neonates exposed and not exposed to methamphetamine (MA) using the NICU Network Neurobehavioral Scale (NNNS). Design The purpose of the IDEAL study is to determine the effects of prenatal MA exposure on child outcome. IDEAL screened 13,808 subjects, 1632 were eligible and consented and 176 mothers were enrolled. Only biological mothers with custody of their child at the one-month visit (n=50 MA; n=86 comparison) had the Addiction Severity Index (ASI) administered. The NNNS was administered to the neonate by an examiner blinded to MA exposure within the first five days of life. General Linear Models tested the effects of maternal depression and prenatal MA exposure on NNNS outcomes, with and without covariates. Significance was accepted at p<.05. Results After adjusting for covariates, regardless of exposure status, maternal depressive symptoms were associated with lower handling and arousal scores, elevated physiological stress scores and an increased incidence of hypotonicity. When adjusting for covariates, MA exposure was associated with lower arousal and higher lethargy scores. Conclusions Maternal depressive symptoms are associated with neurodevelopmental patterns of decreased arousal and increased stress. Prenatal MA exposure combined with maternal depression was not associated with any additional neonatal neurodevelopmental differences. PMID:19059478

  19. 血清学指标结合颈部透明膜产前筛查21-三体综合征的Meta分析%Meta-analysis of prenatal screening for trisomy 21 using nuchal translucency measurement with serum markers

    Institute of Scientific and Technical Information of China (English)

    余章斌; 韩树萍; 郭锡熔

    2009-01-01

    elevated NT together with maternal serum biochemistry markers has a high sensitivity, specificity and accuracy and is suitable for prenatal screen.

  20. The study on the maternal serum marker in second trimester prenatal screening for Down′s syndrome in Urumqi%乌鲁木齐地区妊娠中期妇女唐氏筛查血清标记物水平分析及研究

    Institute of Scientific and Technical Information of China (English)

    王铮; 杨柳; 桂俊豪; 刘鸿春; 黄国香; 杨曦; 余伍忠; 陈石; 周瑾

    2012-01-01

    Objective To study the; clinical value of screening Down s syndrome by maternal serum markers with alpha fetal pro -tein(AFP), free chorionic gonadotropin beta siibnnit ( F-pHCG), nnconjiigated oestriol (nE3) in mid-pregnancy . Methods Serum AFP, F-pHCG and nE3 were detected in pregnant women of 14 20 weeks from 2009 to 2011,then the specific median and the calculated MoM values were used to screen Down s syndrome among the pregnant women . The cases were divided into groups according to the age and weight of the prenatal screening people, serum markers including AFP, F-pHCG and nE3 were analysed . Results The average level of serum AFP and F-pHCG has a significant negative correlation with weight (P=C0 .01) . The gestational age is highly positive correlated with the level of serum AFP and nE3(P<0 .01), and highly negative correlated with the level of serum F-βHCG(P<0.01). Before the adjustment by weight,the average level of AFP,F-βHCG and nE3 in Urnmqi increased 10%,10% and 12% than those of pregnant women in European respectively .After software correction the serum markers MOM value were all close to 1 .Conclusion The high level serum markers in the second trimester are related to Down s syndrome . There was no difference of corrected MoM levels between the crowd in Xinjiang and European in MidtiCalc software . Adjusting MoM values of local populations can screen out the local fetuses with Down s syndrome more effectively .%目的 探讨在唐氏筛查时对孕妇血清中甲胎蛋白(AFP)、游离β绒毛膜促性腺激素(F-βHCG)和游离雌三醇(uE3)参数评估时的实用意义.方法 根据2009~2011年就诊的孕妇各孕周AFP、F-βHCG、uE3中位数,计算出AFP、F-βHCG、uE3的MOM值并进行风险评估,分析体重分组及孕龄分组时血清学的变化.结果 正常母血中的AFP与F-βHCG标记物水平与母亲体重成负相关(P<0.01),另外血清AFP、uE3水平中位数与孕周呈正相关(P<0.01),而孕妇血清F-βhCG

  1. HCC screening; HCC-Screening

    Energy Technology Data Exchange (ETDEWEB)

    Albrecht, T. [Charite-Unversitaetsmedizin,Freie Universitaet und Humboldt-Universitaet zu Berlin, Klinik und Hochschulambulanz fuer Radiologie und Nuklearmedizin,Campus Benjamin Franklin, Berlin (Germany)

    2008-01-15

    Hepatocellular carcinoma (HCC) is one of the most frequently diagnosed tumour diseases throughout the world. In the vast majority of cases those affected are high-risk patients with chronic viral hepatitis and/or liver cirrhosis, which means there is a clearly identifiable target group for HCC screening. With resection, transplantation, and interventional procedures for local ablation, following early diagnosis curative treatment options are available with which 5-year survival rates of over 60% can be reached. Such early diagnosis is a reality only in a minority of patients, however, and in the majority of cases the disease is already in an advanced stage at diagnosis. One of the objects of HCC screening is diagnosis in an early stage when curative treatment is still possible. Precisely this is achieved by screening, so that the proportion of patients treated with curative intent is decisively higher. There is not yet any clear evidence as to whether this leads to a lowering of the mortality of HCC. As lower mortality is the decisive indicator of success for a screening programme the benefit of HCC screening has so far been neither documented nor refuted. Nonetheless, in large regions of the world it is the practice for high-risk patients to undergo HCC screening in the form of twice-yearly ultrasound examination and determination of AFP. (orig.) [German] Das hepatozellulaere Karzinom (HCC) ist eine der weltweit haeufigsten Tumorerkrankungen. Es tritt in der grossen Mehrzahl der Faelle bei Hochrisikopatienten mit chronischer Virushepatitis bzw. Leberzirrhose auf, woraus sich eine klar identifizierbare Zielgruppe fuer das HCC-Screening ergibt. Mit der Resektion, der Transplantation und interventionellen lokal ablativen Verfahren stehen bei rechtzeitiger Diagnosestellung kurative Therapieoptionen zur Verfuegung, die 5-Jahres-Ueberlebensraten von >60% erreichen. Diese rechtzeitige Diagnosestellung erfolgt jedoch nur bei einer Minderzahl der Patienten, waehrend die

  2. Prenatal stress is a vulnerability factor for altered morphology and biological activity of microglia cells.

    Directory of Open Access Journals (Sweden)

    Joanna eŚlusarczyk

    2015-03-01

    Full Text Available Several lines of evidence suggest that the dysregulation of the immune system is an important factor in the development of depression. Microglia are the resident macrophages of the central nervous system and a key player in innate immunity of the brain. We hypothesized that prenatal stress (an animal model of depression as a priming factor could affect microglial cells and might lead to depressive-like disturbances in adult male rat offspring. We investigated the behavioral changes (sucrose preference test, Porsolt test, the expression of C1q and CD40 mRNA and the level of microglia (Iba1 positive in 3 month old control and prenatally stressed male offspring rats. In addition, we characterized the morphological and biochemical parameters of potentially harmful (NO, iNOS, IL-1β, IL-18, IL-6, TNF-α, CCL2, CXCL12, CCR2, CXCR4 and beneficial (IGF-1, BDNF phenotypes in cultures of microglia obtained from the cortices of 1-2 days old control and prenatally stressed pups. The adult prenatally stressed rats showed behavioral (anhedonic- and depression-like disturbances, enhanced expression of microglial activation markers and an increased number of Iba1-immunopositive cells in the hippocampus and frontal cortex. The morphology of glia was altered in cultures from prenatally stressed rats, as demonstrated by immunofluorescence microscopy. Moreover, in these cultures, we observed enhanced expression of CD40 and MHC II and release of pro-inflammatory cytokines, including IL-1β, IL-18, TNF-α and IL-6. Prenatal stress significantly up-regulated levels of the chemokines CCL2, CXCL12 and altered expression of their receptors, CCR2 and CXCR4 while IGF-1 production was suppressed in cultures of microglia from prenatally stressed rats.Our results suggest that prenatal stress may lead to excessive microglia activation and contribute to the behavioral changes observed in depression in adulthood.

  3. Prenatal diagnosis of arachnoid cyst

    Directory of Open Access Journals (Sweden)

    Korkut Daglar

    2016-12-01

    Full Text Available Arachnoid cysts are rare, usually benign, space-occupying central nervous system lesion. They are the results of an accumulation of cerebrospinal-like fluid between the cerebral meninges and diagnosed prenatally as a unilocular, simple, echolucent area within the fetal head. They may be primary (congenital (maldevelopment of the meninges or secondary (acquired (result of infection trauma, or hemorrhage. The primary ones typically dont communicate with the subarachnoid space whereas acquired forms usually communicate. In recent years, with the development of radiological techniques, the clinical detectability of arachnoid cysts seems to have increased. We report a case of primary arachnoid cyst that were diagnosed prenatally by using ultrasonography and magnetic resonance imaging . [Cukurova Med J 2016; 41(4.000: 792-795