Maternal Fertility, Reproductive Loss, and Defective Human Embryos

It is possible that many abnormal conceptuses are lost at an early stage without the mother's knowledge. To investigate this further the reproductive history of the mothers of defective embryos (neural tube defects, holoprosencephaly, cleft lip, polydactyly, and early embryonic resorption) was compared with that of the mothers of normal embryos. The frequency of prior miscarriages was higher in the case mothers than in normal controls matched for maternal age and gravidity, the difference being significant for all the anomalies except for polydactyly. The case mothers had fewer prior recognised pregnancies than control mothers matched for maternal age. There were more primigravid mothers in abnormal groups, and the difference from controls was significant for neural tube defects. It was assumed that the gravidity of the case mothers may be underestimated, possibly due to increased early abortions which are not recognised clinically. Thus, it seems that both recognised and unrecognised abortions occur more often in the mothers of defective embryos. Since many spontaneous abortuses are morphologically and/or cytogenetically abnormal, some women appear to conceive abnormal embryos repeatedly. Most of these embryos, however, may be screened out prenatally and escape clinical detection. Information on prior reproductive history of the woman should be examined carefully in genetic counselling.