Reported livebirth prevalence of Down syndrome (DS) may be affected by the maternal age distribution of the population, completeness of ascertainment, accuracy of diagnosis, extent of selective prenatal termination of affected pregnancies, and as yet unidentified genetic and environmental factors.
To search for evidence of the latter, we reviewed all published reports in which it was possible to adjust both for effects of maternal age and for selective termination (where relevant).
We constructed indices that allowed direct comparisons of prevalence rates after standardising for maternal age.
Reference rates were derived from studies previously identified as having near complete ascertainment.
An index value significantly different from 1 may result from random fluctuations, as well as from variations in the factors listed above.
We found 49 population groups for which an index could be calculated.
Methodological descriptions suggested that low values could often be attributed to underascertainment.
A possible exception concerned African-American groups, though even among these most acceptable studies were compatible with an index value of 1. As we have reported elsewhere, there was also a suggestive increase in rates among US residents of Mexican or Central American origin.
Nevertheless, our results suggest that « real » variation between population groups reported to date probably amounts to no more than ±25%. (...)
Mots-clés Pascal : Trisomie, Aneuploïdie, Aberration chromosomique, Chromosome G21, Prévalence, Epidémiologie, Age mère, Diagnostic, Prénatal, Homme
Mots-clés Pascal anglais : Trisomy, Aneuploidy, Chromosomal aberration, Chromosome G21, Prevalence, Epidemiology, Maternal age, Diagnosis, Prenatal, Human
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0330003
Code Inist : 002B23B. Création : 16/11/1999.