Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes

Abstract

During the years 1975-1987, 1,364 cytogenetic studies were performed in 682 couples with history of adverse pregnancy outcome. Thirty-six balanced translocations were detected, 24 (3.5%) in women and 12 (1.7%) in men. Before 1982, all 234 couples studied had 2 or more spontaneous abortions with unknown pedigrees, with an incidence of 6.8% of balanced translocations. During 1982-1987, complete pedigree analysis was performed on a subset of 448 couples, who were then classified into 3 groups. Group I; 321 couples with 2 or more spontaneous abortions, but no other adverse outcome; group II; 37 couples with at least one or more spontaneous abortions plus a malformed child or stillbirth; and group III; 90 couples with one or more spontaneous abortions plus a sib having at least a malformed child or repetitive spontaneous abortions. The incidence of balanced translocations in these 3 groups was 2.8%, 5.4%, and 10.0%, respectively. When group III was compared with group I, the frequency of translocations was significantly different (P less than 0.02). Robertsonian translocations were predominantly detected in women, raising the possibility that prezygotic failure producing primary sterility may occur in men with such translocations.

Chromosomal Abnormalities in Couples with Reproductive Disorders

“…Similar to other surveys of couples with fetal wastage [4][5][6][7] , translocations were the commonest abnormalities in our sample. Overall, structural abnormalities were more frequent in females (28 vs. 16), a finding in accordance with other studies.…”

“…The prevalence of chromosomally abnormal couples found in our study group (5.5%) falls within the 4.3-6.7% range documented in other populations [4][5][6][7][8] . However, greater prevalences have been detected in other series [2,[10][11][12] .…”

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

“…Most of the spontaneous miscarriages are caused due to chromosomal abnormalities in the embryo or foetus [8]. The genetic etiology for multiple spontaneous miscarriages includes an unbalanced chromosomal rearrangement which may be the result of one parent being carrier for BRT [9]. In 4-8% of couples with RM, at least one of the partners has chromosomal abnormalities that probably contain balanced chromosomal anomalies [10].…”

A cytogenetic study of couples with recurrent spontaneous abortions and infertile patients with recurrent IVF/ICSI failure

“…[12] The genetic etiology for multiple spontaneous pregnancy loss includes an unbalanced chromosome rearrangement, which may be the result of one parent being a carrier for a balanced chromosome rearrangement. [13] In 4-8% of couples with recurrent pregnancy loss, at least one of the partners has chromosomal abnormality that probably contains balance chromosomal abnormalities. [2] The results of the present study showed 13.92% chromosomal abnormalities in these individuals [Figure 1].…”