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

Hidetoshi Mezawa,Fumiki Hirahara,Limin Yang,Kiwako Yamamoto-Hanada,Kazue Ishitsuka,Shoji F Nakayama,Mizuho Konishi,Tadayuki Ayabe,Ai Tomotaki,Yukihiro Ohya,Hirohisa Saito,Narufumi Suganuma,Mayako Saito

doi:10.2188/jea.je20180014

Abstract

BackgroundThe 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.MethodsData 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.ResultsThe 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.ConclusionsThe present report generated reliable data concerning the prevalence of major CAs in JECS.

Highlights

Congenital anomalies (CAs) are an important cause of infant and childhood deaths and chronic illness and lifelong disability.[1]
Approximately 50% of congenital anomalies (CAs) have been linked to a specific cause, genetic, socioeconomic and demographic, environmental, infectious, and maternal nutritional risk factors are known at present.[2]
During the Japan Environment and Children’s Study (JECS) recruitment period, a total of 104,102 infants were enrolled through hospitals or local government offices

Summary

Introduction

Congenital anomalies (CAs) are an important cause of infant and childhood deaths and chronic illness and lifelong disability.[1] To date, approximately 50% of CAs have been linked to a specific cause, genetic, socioeconomic and demographic, environmental, infectious, and maternal nutritional risk factors are known at present.[2] Environmental toxicants that are known to cause several CAs are one of the risk factors that can be minimized by appropriate standards and regulations. The reported risk factors for congenital heart disease include prenatal exposure to pesticides, organic solvents, and air pollution.[3,4] Exposure to some endocrine disrupters has been linked to cryptorchidism and hypospadias.[5] Pesticide exposure is associated with urinary malformations.[6] evidence for many of these relationships is still limited. 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

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Results

Conclusion