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

Overview

Journal J Epidemiol

Specialty Public Health

Date 2018 Sep 26

PMID 30249945

Citations 40

Authors

Hidetoshi Mezawa

Ai Tomotaki

Kiwako Yamamoto-Hanada

Kazue Ishitsuka

Tadayuki Ayabe

Mizuho Konishi

Mayako Saito

Limin Yang

Narufumi Suganuma

Fumiki Hirahara

Shoji F Nakayama

Hirohisa Saito

Yukihiro Ohya

Affiliations

Soon will be listed here.

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.

Citing Articles

Prospective association of daily toothbrushing frequency and the prevalence of childhood functional constipation: the Japan Environment and Children's Study.

Tsuchiya M, Tsuchiya S, Momma H, Nagatomi R, Yaegashi N, Arima T Sci Rep. 2025; 15(1):7753.

PMID: 40044680 PMC: 11882968. DOI: 10.1038/s41598-025-88562-8.

Low glucose challenge test result as a potential risk factor for delays in early child development: the Japan environment and children's study.

Shinohara S, Kojima R, Otawa S, Kushima M, Miyake K, Yui H J Diabetes Metab Disord. 2025; 24(1):61.

PMID: 39902091 PMC: 11787112. DOI: 10.1007/s40200-025-01568-x.

Risks of neonatal anomalies and obstetric complications in 7378 singleton births after frozen-thawed and fresh embryo transfers in Japan: An analysis using doubly robust estimation.

Terada S, Habara T, Terada R, Mitsuhashi T, So R, Yoshioka N Reprod Med Biol. 2025; 24(1):e12623.

PMID: 39850934 PMC: 11755112. DOI: 10.1002/rmb2.12623.

Pharmacovigilance Pregnancy Data in a Population of Japanese Patients With Chronic Inflammatory Disease Exposed to Certolizumab Pegol.

Goto M, Saito S, Scheuerle A, Yasuda S, Houston N, Kumke T Int J Rheum Dis. 2025; 28(1):e70048.

PMID: 39812078 PMC: 11733829. DOI: 10.1111/1756-185X.70048.

Association of air purifier usage during pregnancy with adverse birth outcomes: the Japan Environment and Children's Study.

Inadera H, Matsumura K, Kasamatsu H, Shimada K, Kitase A, Tsuchida A BMC Public Health. 2024; 24(1):3421.

PMID: 39696235 PMC: 11654371. DOI: 10.1186/s12889-024-20802-4.

References

Hei M, Yi Z . Environmental factors for the development of fetal urinary malformations. World J Pediatr. 2014; 10(1):17-23. DOI: 10.1007/s12519-014-0449-1. View

Carmichael S, Shaw G, Ma C, Werler M, Rasmussen S, Lammer E . Maternal corticosteroid use and orofacial clefts. Am J Obstet Gynecol. 2007; 197(6):585.e1-7. DOI: 10.1016/j.ajog.2007.05.046. View

Stothard K, Tennant P, Bell R, Rankin J . Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta-analysis. JAMA. 2009; 301(6):636-50. DOI: 10.1001/jama.2009.113. View

Duan R, Cao M, Wu Y, Huang J, Denny J, Xu H . An Empirical Study for Impacts of Measurement Errors on EHR based Association Studies. AMIA Annu Symp Proc. 2017; 2016:1764-1773. PMC: 5333313. View

Bower C, Rudy E, Callaghan A, Quick J, Nassar N . Age at diagnosis of birth defects. Birth Defects Res A Clin Mol Teratol. 2010; 88(4):251-5. DOI: 10.1002/bdra.20658. View

Butali A, Little J, Chevrier C, Cordier S, Steegers-Theunissen R, Jugessur A . Folic acid supplementation use and the MTHFR C677T polymorphism in orofacial clefts etiology: An individual participant data pooled-analysis. Birth Defects Res A Clin Mol Teratol. 2013; 97(8):509-14. PMC: 3745533. DOI: 10.1002/bdra.23133. View

Hernandez-Diaz S, Werler M, Walker A, Mitchell A . Folic acid antagonists during pregnancy and the risk of birth defects. N Engl J Med. 2000; 343(22):1608-14. DOI: 10.1056/NEJM200011303432204. View

Mai C, Cassell C, Meyer R, Isenburg J, Canfield M, Rickard R . Birth defects data from population-based birth defects surveillance programs in the United States, 2007 to 2011: highlighting orofacial clefts. Birth Defects Res A Clin Mol Teratol. 2014; 100(11):895-904. PMC: 4631395. DOI: 10.1002/bdra.23329. View

Virtanen H, Adamsson A . Cryptorchidism and endocrine disrupting chemicals. Mol Cell Endocrinol. 2011; 355(2):208-20. DOI: 10.1016/j.mce.2011.11.015. View

10.

Oliveira C, Fett-Conte A . Birth defects: Risk factors and consequences. J Pediatr Genet. 2016; 2(2):85-90. PMC: 5020963. DOI: 10.3233/PGE-13052. View

11.

Michikawa T, Nitta H, Nakayama S, Yamazaki S, Isobe T, Tamura K . Baseline Profile of Participants in the Japan Environment and Children's Study (JECS). J Epidemiol. 2017; 28(2):99-104. PMC: 5792233. DOI: 10.2188/jea.JE20170018. View

12.

Beaty T, Murray J, Marazita M, Munger R, Ruczinski I, Hetmanski J . A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet. 2010; 42(6):525-9. PMC: 2941216. DOI: 10.1038/ng.580. View

13.

Young D, Schneider R, Hu D, Helms J . Genetic and teratogenic approaches to craniofacial development. Crit Rev Oral Biol Med. 2000; 11(3):304-17. DOI: 10.1177/10454411000110030201. View

14.

Schechtman K, Gray D, Baty J, Rothman S . Decision-making for termination of pregnancies with fetal anomalies: analysis of 53,000 pregnancies. Obstet Gynecol. 2002; 99(2):216-22. DOI: 10.1016/s0029-7844(01)01673-8. View

15.

Dolk H . Epidemiologic approaches to identifying environmental causes of birth defects. Am J Med Genet C Semin Med Genet. 2004; 125C(1):4-11. DOI: 10.1002/ajmg.c.30000. View

16.

Vrijheid M, Martinez D, Manzanares S, Dadvand P, Schembari A, Rankin J . Ambient air pollution and risk of congenital anomalies: a systematic review and meta-analysis. Environ Health Perspect. 2010; 119(5):598-606. PMC: 3094408. DOI: 10.1289/ehp.1002946. View

17.

Kummet C, Moreno L, Wilcox A, Romitti P, DeRoo L, Munger R . Passive Smoke Exposure as a Risk Factor for Oral Clefts-A Large International Population-Based Study. Am J Epidemiol. 2016; 183(9):834-41. PMC: 4851990. DOI: 10.1093/aje/kwv279. View

18.

Suzumori N, Kumagai K, Goto S, Nakamura A, Sugiura-Ogasawara M . Parental decisions following prenatal diagnosis of chromosomal abnormalities: implications for genetic counseling practice in Japan. J Genet Couns. 2014; 24(1):117-21. DOI: 10.1007/s10897-014-9744-1. View

19.

Hanaoka T, Tamura N, Ito K, Sasaki S, Araki A, Ikeno T . Prevalence and Risk of Birth Defects Observed in a Prospective Cohort Study: The Hokkaido Study on Environment and Children's Health. J Epidemiol. 2017; 28(3):125-132. PMC: 5821689. DOI: 10.2188/jea.JE20160108. View

20.

Pettigrew S, Bell E, Van Zutphen A, Rocheleau C, Shaw G, Romitti P . Paternal and joint parental occupational pesticide exposure and spina bifida in the National Birth Defects Prevention Study, 1997 to 2002. Birth Defects Res A Clin Mol Teratol. 2016; 106(11):963-971. PMC: 6613649. DOI: 10.1002/bdra.23551. View