Abstract
The present study was proposed to unveil the incidence and pattern of chromosomal abnormalities in recurrent spontaneous abortion couples of Kashmir, North India. A total of 71 couples within the age group of 24 to 42 years and having history of two or more recurrent spontaneous abortions were included in the study. Peripheral blood lymphocyte cultures were set for each subject according to standard protocol and chromosomal analysis was carried out on well spread metaphases by the help of Cytovision software Version 3.9. The incidence of chromosomal abnormalities in spontaneous abortion couples of this region was found to be 7.75% that include numerical (1.40%) as well as structural (7.75%) chromosomal abnormalities. Both males (2.11%) and females (5.63%) possessed chromosomal aberrations that comprised balanced translocations (4.22%), duplications (0.70%), deletions (0.70%) and inversions (2.11%). Besides, We report three unique balanced translocations viz., t(1;3)(q24.3;p25)(1 case); t(6,16)(p11;q23)(1 case) and t(7;14)(p13;q12)(2 cases). that have not been found elsewhere in the literature. We conclude from the present study that chromosomal alterations do occur as an etiology in the RSA couples of Kashmir and their incidence is consistent with many reports around the world. The precise molecular characterization of the unique breakpoint regions reported in our study could help in identification of new genes involved in recurrent spontaneous abortions. The study being the first of its kind in this part of the world forms the basis for further studies of the couples of this region with recurrent spontaneous abortions.
Highlights
Miscarriages are the most common complication of pregnancy, affecting approximately 15% of all clinically recognized pregnancies in the general population
A total of 142 cases (71 couples) were evaluated for karyotyping analysis to rule out the possible chromosomal anomalies as an etiology for their history of recurrent spontaneous abortions
The results of the present study conclude that chromosomal alterations do occur as an etiology in the Recurrent spontaneous abortion (RSA) couples of Kashmir in almost the same range as that reported by several other workers at isolated places
Summary
Miscarriages are the most common complication of pregnancy, affecting approximately 15% of all clinically recognized pregnancies in the general population. Most of the miscarriages are sporadic and non-recurrent, and are often caused by chromosome abnormalities in the fetus [3]. Recurrent spontaneous abortion (RSA) is often defined as the occurrence of three or more consecutive, clinically detectable pregnancy failures before the 20th week of gestation [4,5,6]. There are numerous factors that may cause RSA, but the underlying problem often remains undetected. The known causes of RSA include chromosomal and metabolic abnormalities, uterine anomalies and immunologic factors [9,1]. Cytogenetic screening of couples with RSA has revealed that parental chromosomal abnormalities occur in either partner in 5-7% of couples with RSA, while the rate in the normal population is approximately 0.2% [10]
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