Structural chromosome rearrangements in couples with recurrent fetal wastage

Abstract

Objective: A review of the cytogenetic data in 1743 couples (3486 patients) with recurrent fetal wastage (RFW) who were examined for RFW at the Leuven Centre for Human Genetics in the period 1986-1995. These results were compared with a previous study in the period 1970-1985.

Subjects: Patients who had at least two first trimester miscarriages or patients who had a spontaneous first trimester abortion, preceded or followed by a second or third trimester fetal death.

Results: Chromosomal rearrangements were found in 5.34%. Two-thirds of these chromosomal rearrangements were autosomal balanced translocations. This finding is a 30-fold increase compared to the general population. Other chromosomal abnormalities included Robertsonian translocations, inversions and sex-chromosomal abnormalities.

Discussion: The Leuven experience was compared with several other studies. Mechanisms causing these chromosomal abnormalities are presented.

Conclusions: Chromosomal analyses are an important and necessary part of the etiological investigations in couples with RFW.