Parental chromosomal abnormalities in individuals with recurrent pregnancy loss

INTRODUCTION: Chromosomal abnormality is a frequent cause of recurrent pregnancy loss (RPL), which is described as the loss of two or more pregnancies before 24 weeks of gestation. The aim of this study was to investigate the type and frequency of chromosomal abnormalities in couples with a history of RPL.
METHODS: Consecutive 400 patients (200 couples) who were referred to our center with the complaint of RPL were included in the study. Routine karyotyping was performed using Giemsa-trypsin-Giemsa (GTG) or Giemsa-trypsin-Leishman (GTL) banding after obtaining a signed informed consent form. The patient data were then retrospectively retrieved.
RESULTS: The median age was 32±6.25 years. Chromosomal abnormalities were detected in 4% of the patients (n=16). Of the 16 patients with chromosomal abnormalities, 9 patients had reciprocal and 1 had Robertsonian translocations. Two had inversions. Two cases had mosaic monosomy X while the remaining two had mosaic trisomy X. No significant association was found between the presence of chromosomal abnormality and age or gender (p>0.05).
DISCUSSION AND CONCLUSION: The majority of the chromosomal abnormalities causing RPL result from balanced translocations, and other structural or numerical chromosomal abnormalities may also be the cause of pregnancy loss. Parental chromosome analysis is crucial in elaborating the cause of RPL, to provide accurate genetic counseling and preimplantation genetic diagnosis when possible.