Chromosomal Aberrations in 224 Couples with Recurrent Pregnancy Loss

Recurrent pregnancy loss (RPL) is a major reproductive health issue, affecting 2%-5% of couples. Genetic factors, mainly chromosomal abnormalities, are the most common cause of early miscarriage accounting for 50%-60% of first trimester abortion.

To estimate the prevalence and nature of chromosomal anomalies in couples with recurrent miscarriage.

This study included 224 couples with a history of 2 or more abortions. Both partners were karyotyped as part of the primary investigation. Cytogenetic analysis was carried out using the standard method.

A total of 224 couples with a history of two or more recurrent abortions were enrolled in this study. Chromosomal abnormalities were detected in 26 couples (11.6%) and 28 individuals (6.25%). We found a structural chromosome abnormality in 17/28 patients (60.7%); 12 patients had a reciprocal translocation (42.9%) including one patient with an additional inversion of the Y chromosome, 4 (14.3%) had a Robertsonian translocation, and one patient (3.6%) carried a paracentric inversion of chromosome 2. Numerical chromosome aberrations were detected in 5 patients; three patients (10.7%) with sex chromosome abnormalities and two (7.1%) with a marker chromosome. Six patients (21.4%) showed a heteromorphic variant involving chromosome 9.

The prevalence of chromosomal abnormalities in couples with RPL is within the range reported worldwide. Cytogenetic analysis should become an integral part of the investigations of couples with at least two pregnancy losses of undetermined etiology.