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

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

Hidetoshi Mezawa  1 , Ai Tomotaki  1 , Kiwako Yamamoto-Hanada  1 , Kazue Ishitsuka  1 , Tadayuki Ayabe  1 , Mizuho Konishi  1 , Mayako Saito  1 , Limin Yang  1 , Narufumi Suganuma  2 , Fumiki Hirahara  3 , Shoji F Nakayama  4 , Hirohisa Saito  1 , Yukihiro Ohya  1
Affiliations

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

Hidetoshi Mezawa et al. J Epidemiol. .

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.

Keywords: JECS; Japan Environment and Children’s Study; birth cohort; congenital anomalies; prevalence.

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Figures

Figure 1.
Figure 1.. Venn diagram of congenital anomaly data collected from information entered in the medical records at delivery and at 1 month of age.
See this image and copyright information in PMC

References

    1. Congenital anomalies fact sheet [homepage on the Internet]. Available from: http://www.who.int/mediacentre/factsheets/fs370/en/.
    1. Oliveira CI, Fett-Conte AC. Birth defects: risk factors and consequences. J Pediatr Genet. 2013;2:85–90. - PMC - PubMed
    1. Gorini F, Chiappa E, Gargani L, Picano E. Potential effects of environmental chemical contamination in congenital heart disease. Pediatr Cardiol. 2014;35:559–568. 10.1007/s00246-014-0870-1 - DOI - PubMed
    1. Vrijheid M, Martinez D, Manzanares S, et al. Ambient air pollution and risk of congenital anomalies: a systematic review and meta-analysis. Environ Health Perspect. 2011;119:598–606. 10.1289/ehp.1002946 - DOI - PMC - PubMed
    1. Virtanen HE, Adamsson A. Cryptorchidism and endocrine disrupting chemicals. Mol Cell Endocrinol. 2012;355:208–220. 10.1016/j.mce.2011.11.015 - DOI - PubMed