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JournalISSN: 1542-0752

Birth Defects Research Part A-clinical and Molecular Teratology 

About: Birth Defects Research Part A-clinical and Molecular Teratology is an academic journal. The journal publishes majorly in the area(s): Population & Pregnancy. It has an ISSN identifier of 1542-0752. Over the lifetime, 1393 publications have been published receiving 44859 citations.


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Journal ArticleDOI
TL;DR: Accurate and timely national estimates of the prevalence of birth defects are needed for monitoring trends, assessing prevention efforts, determining service planning, and understanding the burden of disease due to birth defects in the United States.
Abstract: BACKGROUND: The National Birth Defects Prevention Network collects state-specific birth defects surveillance data for annual publication of prevalence estimates and collaborative research projects. In 2006, data for 21 birth defects from 1999 through 2001 were presented as national birth prevalence estimates. The purpose of this report was to update these estimates using data from 2004 through 2006. METHODS: Population-based data from 11 active case-finding programs, 6 passive case-finding programs with case confirmation, and 7 passive programs without case confirmation were used in this analysis. Pooled birth prevalence estimates for 21 birth defects, stratified by case ascertainment approach, were calculated. National prevalence estimates, adjusted for maternal race/ethnicity and maternal age (trisomy 13, trisomy 18, and Down syndrome only) were determined using data from 14 programs. The impact of pregnancy outcomes on prevalence estimates was also assessed for five specific defects. RESULTS: National birth defects prevalence estimates ranged from 0.72 per 10,000 live births for common truncus to 14.47 per 10,000 live births for Down syndrome. Stratification by type of surveillance system showed that active programs had a higher prevalence of anencephaly, anophthalmia/microphthalmia, cleft lip with or without cleft palate, reduction defect of upper limbs, and trisomy 18. The birth prevalence of anencephaly, trisomy 13, and trisomy 18 also varied substantially with inclusion of elective terminations. CONCLUSION: Accurate and timely national estimates of the prevalence of birth defects are needed for monitoring trends, assessing prevention efforts, determining service planning, and understanding the burden of disease due to birth defects in the United States. Birth Defects Research (Part A) 88:1008–1016, 2010. 2010 Wiley-Liss, Inc.

1,591 citations

Journal ArticleDOI
TL;DR: This study can be used to evaluate individual state surveillance data, and to help plan for public health care and educational needs, and provides valuable data on racial/ethnic patterns of selected major birth defects.
Abstract: BACKGROUND: In the United States, birth defects affect approximately 3% of all births, are a leading cause of infant mortality, and contribute substantially to childhood morbidity. METHODS: Population-based data from the National Birth Defects Prevention Network were combined to estimate the prevalence of 21 selected defects for 1999–2001, stratified by surveillance system type. National prevalence was estimated for each defect by pooling data from 11 states with active case-finding, and adjusting for the racial/ethnic distribution of US live births. We also assessed racial/ethnic variation of the selected birth defects. RESULTS: National birth defect prevalence estimates ranged from 0.82 per 10,000 live births for truncus arteriosus to 13.65 per 10,000 live births for Down syndrome. Compared with infants of non-Hispanic (NH) white mothers, infants of NH black mothers had a significantly higher birth prevalence of tetralogy of Fallot, lower limb reduction defects, and trisomy 18, and a significantly lower birth prevalence of cleft palate, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, gastroschisis, and Down syndrome. Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, spina bifida, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without cleft lip, and esophageal atresia/tracheoesophageal fistula. CONCLUSIONS: This study can be used to evaluate individual state surveillance data, and to help plan for public health care and educational needs. It also provides valuable data on racial/ethnic patterns of selected major birth defects. Birth Defects Research (Part A), 2006. © 2006 Wiley-Liss, Inc.

620 citations

Journal ArticleDOI
TL;DR: The case classification schema developed for the NBDPS may be of value to other clinicians working on epidemiologic studies of birth defects etiology and will lead to more comparable case groups, an important element of careful studies aimed at identifying risk factors for birth defects.
Abstract: Background Previous studies have suggested that etiologic heterogeneity may complicate epidemiologic analyses designed to identify risk factors for birth defects Case classification uses knowledge of embryologic and pathogenetic mechanisms to make case groups more homogeneous and is important to the success of birth defects studies METHODS The goal of the National Birth Defects Prevention Study (NBDPS), an ongoing multi-site case–control study, is to identify environmental and genetic risk factors for birth defects Information on environmental risk factors is collected through an hour-long maternal interview, and DNA is collected from the infant and both parents for evaluation of genetic risk factors Clinical data on infants are reviewed by clinical geneticists to ensure they meet the detailed case definitions developed specifically for the study To standardize the methods of case classification for the study, an algorithm has been developed to guide NBDPS clinical geneticists in this process RESULTS Methods for case classification into isolated, multiple, and syndrome categories are described Defects considered minor for the purposes of case classification are defined Differences in the approach to case classification for studies of specific defects and of specific exposures are noted CONCLUSIONS The case classification schema developed for the NBDPS may be of value to other clinicians working on epidemiologic studies of birth defects etiology Consideration of these guidelines will lead to more comparable case groups, an important element of careful studies aimed at identifying risk factors for birth defects Birth Defects Research (Part A) 67:193–201, 2003 © 2003 Wiley-Liss, Inc

522 citations

Journal ArticleDOI
TL;DR: Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well-characterized phenotypes that can be a flexible and powerful tool in many types of etiologic studies of heart defects.
Abstract: Background Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). Methods The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. Results Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. Conclusions Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well-characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects.

369 citations

Journal ArticleDOI
TL;DR: The many NTD mutants are the foundation for a future complete genetic understanding of the processes of neural fold elevation and fusion along mechanistically distinct cranial-caudal segments of the neural tube, and they point to several candidate processes for study in human NTD etiology.
Abstract: The number of mouse mutants and strains with neural tube defects (NTDs) now exceeds 240, including 205 representing specific genes, 30 for unidentified genes, and 9 multifactorial strains These mutants identify genes needed for embryonic neural tube closure Reports of 50 new NTD mutants since our 2007 review (Harris and Juriloff, 2007) were considered in relation to the previously reviewed mutants to obtain new insights into mechanisms of NTD etiology In addition to null mutations, some are hypomorphs or conditional mutants Some mutations do not cause NTDs on their own, but do so in digenic, trigenic, and oligogenic combinations, an etiology that likely parallels the nature of genetic etiology of human NTDs Mutants that have only exencephaly are fourfold more frequent than those that have spina bifida aperta with or without exencephaly Many diverse cellular functions and biochemical pathways are involved; the NTD mutants draw new attention to chromatin modification (epigenetics), the protease-activated receptor cascade, and the ciliopathies Few mutants directly involve folate metabolism Prevention of NTDs by maternal folate supplementation has been tested in 13 mutants and reduces NTD frequency in six diverse mutants Inositol reduces spina bifida aperta frequency in the curly tail mutant, and three new mutants involve inositol metabolism The many NTD mutants are the foundation for a future complete genetic understanding of the processes of neural fold elevation and fusion along mechanistically distinct cranial-caudal segments of the neural tube, and they point to several candidate processes for study in human NTD etiology

292 citations

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Performance
Metrics
No. of papers from the Journal in previous years
YearPapers
2016103
2015107
201497
201387
2012114
2011113