Study of genetic abnormalities in recurrent pregnancy loss of north Indian population

Abstract

Background Chromosome abnormalities are the most common genetic causes of reproductive problems and recurrent pregnancy loss. As a result, it is critical to investigate the prevalence of genetic disorders and embryonic development in patients who experience recurrent pregnancy loss. Recurrent pregnancy loss described as two or more consecutive pregnancy losses that afflict couples seeking to start a family. Among the genetic factors, parental chromosomal abnormalities such as insertion, deletion, inversion, and translocation are one of the possible causes of recurrent pregnancy loss in the first three months of pregnancy. Aim and objectives The purpose of the study was to investigate and evaluate the contribution of chromosomal abnormalities to recurrent pregnancy loss and provide a detailed characterization and frequency of a particular type of aberration in recurrent pregnancy loss. Material and methods This study approved by Ethical committee Rama Medical College and hospital, Mandhana Kanpur, Uttar Pradesh 100 couples that was 200 patient samples from Rama Medical College, the Hospital Research Centre, and nearby adjoining areas. Chromosome analysis performed by GTG banding on the cultures of peripheral blood lymphocytes and Polymerase chain Reaction (PCR) with specific molecular markers for the Y chromosome also done when required to find the specific micro deletions in the Y chromosome on the same set of samples if any structural chromosomal abnormality was found by the karyotype. Results Chromosomal analysis is an important investigation for recurrent pregnancy loss. All observations and results collected and entered in an MS Excel work sheet, and the results analysed with appropriate statistical tools and software SPSS 21.0. In the present study, all 200 cases were analysed by karyotype and three cases were analyzed by Real Time Polymerase Chain Reaction (RT-PCR) method which were morphologically found abnormal by karyotype where as these cases were found normal in study of real time polymerase chain reac