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Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus,
Insights
This study screened 34,910 newborns for chromosomal abnormalities. It found sex chromosome abnormalities in 1 in 426 children and autosomal abnormalities in 1 in 164 children.
Area of Science:
- Medical Genetics
- Human Genetics
- Reproductive Biology
Background:
- Chromosomal abnormalities can impact fetal development and child health.
- Environmental factors may influence the incidence of these abnormalities.
- Large-scale screening provides crucial epidemiological data.
Purpose of the Study:
- To determine the incidence of various sex chromosome and autosomal abnormalities in a large newborn population.
- To establish baseline data for ongoing research on environmental influences on pregnancy and fetal development.
Main Methods:
- Prospective study involving chromosome examinations of 34,910 newborn children over 13 years.
- Systematic recording of sex chromosome aberrations, including Klinefelter's syndrome, XYY, triple-X, and Turner's syndrome.
- Identification and quantification of autosomal abnormalities, such as Down's syndrome and reciprocal translocations.
Main Results:
- Sex chromosome abnormalities occurred in 1 in 426 children (2.34 per 1000).
- Autosomal abnormalities, including Down's syndrome and reciprocal translocations, occurred in 1 in 164 children.
- Combined incidence of all chromosomal abnormalities was 1 in 118 children (8.45 per 1000).
Conclusions:
- Chromosome abnormalities are relatively common in newborns, affecting approximately 8.45 per 1000 live births.
- The study provides significant epidemiological data on the prevalence of specific genetic disorders.
- Findings contribute to understanding the genetic landscape of newborns and potential environmental influences.
Abstract:
As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Arhus over a 13-year period. Klinefelter's syndrome was found in 1 per 576 boys, XYY in 1 per 851 boys, triple-X in 1 per 947 girls and Turner's syndrome in 1 per 1893 girls. Other sex chromosome aberrations were found in 1 per 11,637 children. The total incidence of sex chromosome abnormalities was 1 per 426 children or 2.34 per 1000. The most frequent autosomal abnormalities were that of Down's syndrome with 1 per 592 children, and reciprocal translocations with 1 per 712 children. The total incidence of autosomal abnormalities was 1 per 164 children. Chromosome abnormalities were found in 276 liveborn children and in 19 fetuses, who were aborted after prenatal chromosome examination. The combined incidence of sex chromosomal and autosomal abnormalities was 1 per 118 children or 8.45 per 1000 children.