Incidence of numerical chromosome anomalies in human pregnancy estimation from induced and spontaneous abortion data

Induced abortion data provided an estimate of 4.7% numerical chromosome anomalies for women with a clinically recognized pregnancy at the end of the 7th week after the last menstrual period (LMP). This frequency requires that 51.9% of spontaneous abortions occurring after the 7th week should be chromosomally abnormal if the frequency of numerical chromosome anomalies at term (live and stillbirths combined) is 0.53%. Cytogenetic data from surveys of spontaneous abortion suggested a lower incidence of 39.7%. However, this figure is likely to be an underestimate because chromosome anomalies are almost certainly over-represented among the many early abortuses which lack embryonic tissue and hence are not karyotyped. The frequency of numerical chromosome anomalies at conception, arising from meiotic errors, was estimated from sperm karyotype data combined with information on the relative frequencies of maternal and paternal errors in the aetiology of trisomies. This provided a minimum estimate of 20%.