National population-based estimates for major birth defects, 2016–2020

IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2024-01-19 DOI:10.1002/bdr2.2301
Erin B. Stallings, Jennifer L. Isenburg, Rachel E. Rutkowski, Russell S. Kirby, Wendy N. Nembhard, Theresa Sandidge, Stephan Villavicencio, Hoang H. Nguyen, Daria M. McMahon, Eirini Nestoridi, Laura J. Pabst, for the National Birth Defects Prevention Network
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Abstract

Background

We provide updated crude and adjusted prevalence estimates of major birth defects in the United States for the period 2016–2020.

Methods

Data were collected from 13 US population-based surveillance programs that used active or a combination of active and passive case ascertainment methods to collect all birth outcomes. These data were used to calculate pooled prevalence estimates and national prevalence estimates adjusted for maternal race/ethnicity for all conditions, and maternal age for trisomies and gastroschisis. Prevalence was compared to previously published national estimates from 1999 to 2014.

Results

Adjusted national prevalence estimates per 10,000 live births ranged from 0.63 for common truncus to 18.65 for clubfoot. Temporal changes were observed for several birth defects, including increases in the prevalence of atrioventricular septal defect, tetralogy of Fallot, omphalocele, trisomy 18, and trisomy 21 (Down syndrome) and decreases in the prevalence of anencephaly, common truncus, transposition of the great arteries, and cleft lip with and without cleft palate.

Conclusion

This study provides updated national estimates of selected major birth defects in the United States. These data can be used for continued temporal monitoring of birth defects prevalence. Increases and decreases in prevalence since 1999 observed in this study warrant further investigation.

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2016-2020 年全国主要出生缺陷人口估计数
背景 我们提供了 2016-2020 年期间美国主要出生缺陷的最新粗略估计值和调整后估计值。 方法 我们从 13 个美国人口监测项目中收集数据,这些项目采用主动或主动与被动相结合的病例确定方法来收集所有出生结果。这些数据被用来计算汇总的患病率估计值和全国患病率估计值,所有病症的患病率估计值均根据孕产妇的种族/人种进行了调整,三体综合征和胃畸形的患病率估计值则根据孕产妇的年龄进行了调整。患病率与之前公布的 1999 年至 2014 年全国患病率进行了比较。 结果 每万名活产婴儿中,经过调整的全国患病率估计值从普通截足的 0.63 到马蹄内翻足的 18.65 不等。几种出生缺陷的患病率在时间上发生了变化,包括房室间隔缺损、法洛氏四联症、脐膨出、18 三体综合征和 21 三体综合征(唐氏综合征)的患病率上升,无脑儿、总截管、大动脉转位、唇裂伴或不伴腭裂的患病率下降。 结论 本研究提供了美国部分主要出生缺陷的最新全国估计数据。这些数据可用于对出生缺陷患病率进行持续的时间监测。本研究中观察到的自 1999 年以来患病率的增减情况值得进一步研究。
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来源期刊
Birth Defects Research
Birth Defects Research Medicine-Embryology
CiteScore
3.60
自引率
9.50%
发文量
153
期刊介绍: The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.
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