Cytogenetic analysis in couples with recurrent miscarriages- a case-control study

Introduction: Recurrent miscarriage (RM) is defined as two or more pregnancy losses before 20 weeks of gestation. It affects approximately 15-20% of the couples. Chromosomal anomaly is an important cause of recurrent pregnancy loss. The aim of the present study was to evaluate the frequency of chromosomal abnormalities in couples with RM in our region and compare with normal control.

Materials and methods: The present case control study was conducted in a total of 200 couples from January 2023 to December 2024. Among this 100 couples were considered as the patient group (cases) who suffered from RM and the control group consisted of 100 healthy couples with no history of RM. Peripheral blood T-lymphocytes were cultured using RPMI cell culture medium for obtaining metaphase spreads and chromosome analysis.

Results: Among 100 cases, six cases (6%) presented abnormal karyotype. One sex chromosomal trisomy, one Robertsonian translocation, one reciprocal translocation, one inversion, one deletion and one marker chromosome were found. The partners of these six carriers and the control group presented with normal karyotype.

Conclusion: A total of 6%  cases of  chromosomal abnormalities were found in couples with recurrent pregnancy loss, thus justifying the requirement of cytogenetic testing in these patients