Chromosomal Anomalies in Couples with Recurrent Pregnancy Loss

Abstract

This study explores the landscape of chromosomal anomalies in couples with recurrent pregnancy loss (RPL) who have not previously delivered abnormal fetuses. From 2014 to 2021, we analyzed 122 couples who had experienced more than two first-trimester miscarriages. After excluding common causes of RPL, we conducted a cytogenetic analysis using G-banding. The results revealed chromosomal anomalies in 8.2% of cases, including balanced reciprocal translocations in 4 men and two women, Robertsonian translocations in 2 men, and subfertility in 3 men. Additionally, one woman had a pericentric inversion of chromosome 9, and another had a mosaic karyotype 46, XX/47, XXX. The introduction of genetic counseling led to two successful pregnancies with normal karyotypes. These findings underscore the potential of karyotyping to identify genetic causes and inform reproductive planning, empowering couples to make informed decisions about their future pregnancies.