Balanced translocations among couples with two or more spontaneous abortions: are males and females equally likely to be carriers?

Chromosome studies were performed on a series of 177 couples referred for genetic counseling following two or more spontaneous abortions to clarify the relationship between karyotype and fertility in males and females and to provide risk figures for genetic counseling. The results of these investigations, when combined with those in the literature, suggest that 2-3% of individuals in couples experiencing early fetal losses carry a balanced translocation and that this is not markedly influenced by the number of losses greater than two. Females are more likely than males to be the carrier, reflecting the fact that structural abnormalities of the chromosomes that are compatible with fertility in the female may be associated with sterility in the male. Karyotyping should be performed on both members of a couple following two spontaneous abortions and the products of conception should be studied whenever possible to begin to determine the biological basis of the association between parental rearrangement and fetal loss.