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.

Journal of Epidemiology
|September 26, 2018
PubMed

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.
Abstract

Related Concept Videos

Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Cancer Prevention02:59

Cancer Prevention

Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Gene-Environment Interactions01:20

Gene-Environment Interactions

Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
Environmental Influences on Intelligence01:29

Environmental Influences on Intelligence

Despite the strong genetic influence on traits like intelligence, environmental factors significantly shape outcomes. For example, while over 90% of height variation is due to genetic differences, environmental factors such as nutrition also have a notable impact. Similarly, for intelligence, changes in a child's surroundings can significantly alter their IQ. Research shows that enriched environments boost children's academic success and help them develop key cognitive skills. Children from...