Cytogenetic Studies in Bad Obstetric History (Boh) and Infertility-a Retrospective Study Froma Stand-Alone Laboratory

Abstract

Introduction: Cytogenetic abnormalities are one of the important causes of recurrent pregnancy loss or bad obstetric history and Infertility. Almost 50% of first trimester pregnancy loss and upto 20% of second trimester loss can be due to cytogenetic cause. At the same time, cytogenetic abnormalities are also detected in2-3% of cases with infertility especially in males. Methods: In this paper, wepresent our detailed analysisof13,618 of Bad Obstetric History (BOH) and infertility cases,referred for cytogenetics studies at Metropolis Healthcare Ltd, with an aim to look at chromosomal abnormalities observed in our huge dataset. This is the largest ever reported study of cytogenetic studies in BOH and infertility cases. Results: We detected chromosome abnormalities in 470 (3.45%) of 13,618 cases. Out of the 470 cases, reciprocal translocations were the highest abnormality noted in 136 (28.94%) cases, followed by chromosome 9 inversion seen in 125 (26.6%) cases and three (0.64%) cases of insertion were also observed. Inversions were seen in 76 (16.17%) cases. Robertsonian translocations were seen in 19(4.04%) cases and complex translocations were seen in 3 (0.64%) cases. Numerical abnormalities were detected in 84 (17.87%) cases where as Mosaicism was seen in 17(3.62%) cases. Conclusion:This study reinstates the importance of cytogenetic analysis in BOH and infertility cases in order to provide effective genetic counseling to guide the patients to prevent the birth of cytogenetically affected babies by informing them about the prenatal diagnostic testing options and preimplantation genetic testing methods.