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.
