Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Atlanta, GA 30333, USA.
Public Health Rep. 2012 Jan-Feb;127(1):52-61. doi: 10.1177/003335491212700106.
Birth defects are the leading cause of infant mortality and are responsible for substantial child and adult morbidity. Documenting the variation in prevalence of birth defects among racial/ethnic subpopulations is critical for assessing possible variations in diagnosis, case ascertainment, or risk factors among such groups.
We used data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects registry with active case ascertainment. We estimated the racial/ethnic variation in prevalence of 46 selected major birth defects among live births, stillbirths, and pregnancy terminations at >20 weeks gestation among mothers residing in the five central counties of metropolitan Atlanta between 1994 and 2005, adjusting for infant sex, maternal age, gravidity, and socioeconomic status (SES). We also explored SES as a potential effect measure modifier.
Compared with births to non-Hispanic white women, births to non-Hispanic black women had a significantly higher prevalence of five birth defects and a significantly lower prevalence of 10 birth defects, while births to Hispanic women had a significantly higher prevalence of four birth defects and a significantly lower prevalence of six birth defects. The racial/ethnic disparities in the prevalence of some defects varied by SES, but no clear pattern emerged.
Racial/ethnic disparities were suggested in 57% of included birth defects. Disparities in the prevalence of birth defects may result from different underlying genetic susceptibilities; exposure to risk factors; or variability in case diagnosis, ascertainment, or reporting among the subpopulations examined. Policies that improve early diagnosis of birth defects could reduce associated morbidity and mortality.
出生缺陷是婴儿死亡的主要原因，也是导致儿童和成人发病和患病的主要原因。记录不同种族/民族亚人群中出生缺陷的流行率差异，对于评估这些人群中诊断、病例发现或危险因素方面可能存在的差异至关重要。
我们使用了亚特兰大都市先天性缺陷项目的数据，该项目是一个具有主动病例发现的基于人群的出生缺陷登记处。我们估计了居住在亚特兰大都市五个中心县的母亲在 1994 年至 2005 年间，在活产、死产和妊娠 20 周以上终止妊娠中，46 种选定的主要出生缺陷的流行率在种族/民族间的差异，同时调整了婴儿性别、母亲年龄、孕次和社会经济地位（SES）。我们还探讨了 SES 作为潜在的效应修正因素。
与非西班牙裔白人女性的分娩相比，非西班牙裔黑人女性的五种出生缺陷的流行率显著较高，十种出生缺陷的流行率显著较低，而西班牙裔女性的四种出生缺陷的流行率显著较高，六种出生缺陷的流行率显著较低。一些缺陷的流行率在种族/民族间的差异与 SES 有关，但没有明显的模式出现。
在所包括的 57%的出生缺陷中，存在种族/民族差异。出生缺陷的流行率差异可能是由于不同的潜在遗传易感性；暴露于危险因素；或亚人群中病例诊断、发现或报告的差异所致。改善出生缺陷的早期诊断的政策可以减少相关的发病和死亡率。
