Cytogenetic Studies of ۶۰۸ couples with Recurrent Spontaneous Abortions in Northeastern Iran

Background & Objective: One of the major genetic causes of recurrent spontaneous abortions is parental chromosomal abnormalities. The objectives of the study were to determine, compare and analyze the incidence and distribution of chromosomal abnormalities in couples with recurrent miscarriages from Northeastern Iran.Methods: This study was conducted at Ghaem Hospital, Mashhad, Iran. We evaluated karyotype results of ۶۰۸ couples with history of recurrent spontaneous abortion. The standard method was used for culturing peripheral venous blood lymphocytes.Results: Chromosome aberrations were detected in ۴۳ patients (۳.۵۴%), including ۲۵ females and ۱۸ males. Structural chromosomal abnormality was detected in ۴۰ cases, including balanced translocations (۲۵ cases), robertsonian translocations (۴ cases), inversions (۱۰ cases) and numerical chromosome aberrations (۳ cases). Polymorphic variants were observed in ۲۲ individuals.Conclusion: The frequency of chromosomal abnormalities in couples with Recurrent Spontaneous Abortion (RSA) in our study is ۳.۵۴%. Reciprocal translocation, pericentric inversions, robertsonian translocations, and numerical abnormality observed among couples who had experienced recurrent spontaneous abortions and that these couples might benefit from cytogenetic analysis. 

Keywords:

Chromosomal Abnormalities , Inversions , Reciprocal Translocations , recurrent spontaneous abortion (RSA) , Robertsonian Translocations