先天性异常在日本环境与儿童研究中的流行情况。

Prevalence of Congenital Anomalies in the Japan Environment and Children's Study.

机构信息

Medical Support Center for the Japan Environment and Children's Study, National Center for Child Health and Development.

Department of Environmental Medicine, Kochi Medical School.

出版信息

J Epidemiol. 2019 Jul 5;29(7):247-256. doi: 10.2188/jea.JE20180014. Epub 2018 Sep 22.

DOI:10.2188/jea.JE20180014

PMID:30249945

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6556438/

Abstract

BACKGROUND

The aims of the present report were to estimate the prevalence of congenital anomalies (CAs) among infants in Japan using data from the Japan Environment and Children's Study (JECS) and to evaluate the validity of CA classification within JECS.

METHODS

Data on CAs were collected at delivery and at age 1 month from the medical records of 101,825 infants at 15 regional centers. The analyses focused on 61 CAs, selected on the basis of reported associations with environmental exposure. Prevalence per 10,000 pregnancies (including miscarriages, stillbirths, and live births) was stratified according to four reporting patterns (at delivery, at age 1 month, at either, and at both). To evaluate the accuracy of observed CA prevalence, the medical records of 179 cases from a single JECS regional center underwent independent, retrospective re-evaluation.

RESULTS

The prevalence of major CAs in four reporting patterns (at delivery, at age 1 month, at either, and at both) was 2.4, 2.6, 3.5, and 1.4 for myelomeningocele/spina bifida; 4.3, 4.2, 5.3, and 3.2 for cleft palate; 18.1, 17.4, 19.5, and 15.1 for cleft lip with or without cleft palate; 73.4, 100.3, 120.8, and 52.8 for congenital heart disease; and 10.5, 14.1, 15.0, and 9.6 for Down's syndrome, respectively. In the subsample re-evaluation, CA diagnoses were confirmed for 92.7%, 93.3%, 90.5%, and 97.8% of cases in the four reporting patterns (at delivery, at age 1 month, at either, and at both), respectively.

CONCLUSIONS

The present report generated reliable data concerning the prevalence of major CAs in JECS.

摘要

背景

本报告旨在利用日本环境与儿童研究（JECS）的数据，估算日本婴儿先天畸形（CA）的发生率，并评估 JECS 中 CA 分类的有效性。

方法

从 15 个地区中心的 101825 名婴儿的医疗记录中，在分娩时和 1 月龄时收集 CA 数据。分析集中在 61 种 CA 上，这些 CA 是根据与环境暴露相关的报告选择的。每 10000 例妊娠（包括流产、死产和活产）的发生率（包括在分娩时、1 月龄时、任一时间和两个时间点）按以下 4 种报告模式分层：在分娩时、1 月龄时、任一时间和两个时间点。为了评估观察到的 CA 发生率的准确性，对来自 JECS 单个地区中心的 179 例病例的医疗记录进行了独立的回顾性重新评估。

结果

在 4 种报告模式（分娩时、1 月龄时、任一时间和两个时间点）中，主要 CA 的发生率分别为：脊髓脊膜膨出/脊柱裂 2.4%、4.3%、18.1%和 10.5%；腭裂 2.6%、4.2%、17.4%和 14.1%；唇裂伴或不伴腭裂 3.5%、5.3%、19.5%和 15.0%；先天性心脏病 1.4%、3.2%、15.1%和 12.1%；唐氏综合征 4.3%、3.2%、17.4%和 14.1%。在亚样本重新评估中，4 种报告模式（分娩时、1 月龄时、任一时间和两个时间点）的病例中，CA 诊断分别被确认了 92.7%、93.3%、90.5%和 97.8%。