International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age

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 affecte d pregnancies, and as yet unidentified genetic and environmental factors. T o search for evidence of the latter, we reviewed all published reports in w hich it was possible to adjust both for effects of maternal age and for sel ective termination (where relevant). We constructed indices that allowed direct comparisons of prevalence rates after standardising for maternal age. Reference rates were derived from stu dies previously identified as having near complete ascertainment. An index value significantly different from 1 may result from random fluctuations, a s well as from variations in the factors listed above. We found 49 populati on groups for which an index could be calculated. Methodological descriptio ns suggested that low values could often be attributed to under-ascertainme nt. A possible exception concerned African-American groups, though even amo ng these most acceptable studies were compatible with an index value of 1. As we have reported elsewhere, there was also a suggestive increase in rate s among US residents of Mexican or Central American origin. Nevertheless, o ur results suggest that ((real)) variation between population groups report ed to date probably amounts to no more than +/-25%. However, reliable data in many human populations are lacking including, surprisingly, some jurisdi ctions with relatively advanced health care systems. We Berkeley, suggest t hat future reports of DS livebirth prevalence should routinely present data that allow calculation of an index standardised for maternal age and adjus ted for Berkeley, elective prenatal terminations.