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Prevalence of Congenital Anomalies in the Japan Environment and Children's Study
Hidetoshi Mezawa1, Ai Tomotaki1, Kiwako Yamamoto-Hanada1
1Medical Support Center for the Japan Environment and Children's Study, National Center for Child Health and Development.
Insights
This study estimated congenital anomaly (CA) prevalence in Japan using JECS data, finding reliable prevalence data for major CAs. The validity of CA classification within JECS was also evaluated.
Area of Science:
- Pediatric Epidemiology
- Public Health
- Genetics
Background:
- Congenital anomalies (CAs) pose a significant public health concern.
- Understanding CA prevalence is crucial for targeted interventions and resource allocation.
- The Japan Environment and Children's Study (JECS) provides a valuable dataset for investigating CA epidemiology in Japan.
Purpose of the Study:
- To estimate the prevalence of major congenital anomalies (CAs) in infants in Japan.
- To assess the validity and reliability of CA classification within the JECS cohort.
- To provide robust epidemiological data on CAs for environmental exposure research.
Main Methods:
- Analysis of medical records from 101,825 infants across 15 JECS regional centers.
- Focus on 61 specific CAs with known environmental exposure associations.
- Prevalence calculation stratified by four reporting patterns and validation through retrospective re-evaluation of 179 cases.
Main Results:
- Prevalence rates per 10,000 pregnancies were reported for major CAs including myelomeningocele/spina bifida, cleft palate, cleft lip, congenital heart disease, and Down's syndrome.
- The accuracy of CA diagnoses in the JECS re-evaluation subsample ranged from 90.5% to 97.8% across different reporting patterns.
- Reliable prevalence data for major CAs were generated from the JECS dataset.
Conclusions:
- The JECS cohort provides a reliable source for estimating the prevalence of major congenital anomalies in Japan.
- The CA classification system within JECS demonstrates good validity.
- These findings support the use of JECS data for future research on environmental factors and CAs.
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.
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