Cytogenetic Analysis of Patients with Recurrent Miscarriages

Abstract

Objective: To evaluate the cytogenetic analysis of patients with recurrent miscarriages. Study design and setting: Cross-sectional study, Department of Hematology, Armed Forces Institute of Pathology, Rawalpindi from February 2022 to August 2022. Methodology: 196 patients (98 couples) of recurrent miscarriages within the reproductive age group were included. Cases with known anatomical or endocrinal causes of recurrent miscarriages were excluded. Couples with abnormal reproductive tract anatomy or abnormal endocrine functions were excluded. A standardized system for human cytogenetic nomenclature was used for identifying all chromosomal aberrations. Axioscope microscopes (MetaSystems, Germany) were used for visualizing the metaphases, and MetaSystems software (MetaSystems, Germany) was used to determine the karyotype of each metaphase. Data were analyzed using the student t-test and Chi-square test. A p-value =0.05 was considered significant. Results: Of 98 couples, most of the couples experienced 3 miscarriages. The difference in ages between males and females was significant (p-value <0.001). Chromosomal abnormalities were found in 7 (7.2%) of females and 5 (5.2%) of males. Positive family history of RPL was noted in 27 (13.8%) of the participants. A total of 12/196 (6.1%) males and females experiencing RPL had chromosomal anomalies. Out of these 1 individual (0.5%) had structural aberration, 1(0.5%) numerical abnormality, and 10 (5.1%) were found to have Chromosome Polymorphism. Conclusions: Translocations, numerical aberrations, and chromosomal polymorphism are common cytogenetic abnormalities noted in cases with RPL. Clinicians should refer such couples for karyotyping to rule out the possible genetic causes of recurrent miscarriages.