Abstract

Introduction: Chromosomal abnormalities are implicated in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. Objective: To describe the chromosomal abnormalities detected in a series of patients with recurrent spontaneous pregnancy loss and sub-fertility tested in our laboratory. Methods: 442 patients including 348 patients (171couples, 6 women) with recurrent spontaneous pregnancy loss (Group A), 58 patients (24 couples, 4 men, 6 women) with sub-fertility (Group B), 36 patients (18 couples) with IUI/ IVF failure (Group C) were karyotyped. Results: Chromosomal abnormalities were detected in 42 (9.5%). 21 (50%) were male and 21 (50%) were female. These abnormalities include 33 (79%) structural abnormalities, 9 (21%) numerical abnormalities. All those who had numerical abnormalities were mosaics for normal and abnormal cell lines. The rate of abnormalities seen in groups A, B and C were 8.3% [29/348], 10.4% [6/58], and 19.4% [7/36] respectively. There was a significant difference between the chromosomal abnormalities seen in Group C when compared with combined groups A and B (χ2 = 4.5, df=1, p=0.34). Conclusions: The detection of a chromosomal abnormality in one partner of a couple experiencing recurrent spontaneous pregnancy loss or sub-fertility alters the management of the couple. Therefore such couples should be karyotyped before they are offered assisted reproductive interventions. Key words : Chromosomal abnormalities; recurrent spontaneous pregnancy loss; sub-fertility. DOI: 10.4038/sljog.v31i2.1751 Sri Lanka Journal of Obstetrics and Gynaecology 2009; 31 : 84-87

Highlights

  • Chromosomal abnormalities are implicated in the etiology of recurrent spontaneous pregnancy loss and sub-fertility

  • The detection of a chromosomal abnormality in one partner of a couple experiencing recurrent spontaneous pregnancy loss or sub-fertility alters the management of the couple

  • In this paper we describe the chromosome abnormalities seen in couples with recurrent spontaneous pregnancy loss and sub-fertility tested in our laboratory

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Summary

Introduction

Chromosomal abnormalities are implicated in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. Country wide estimates are not available, anecdotal evidence suggest that recurrent spontaneous pregnancy loss and sub-fertility affect a significant proportion of couples in Sri Lanka. There is no consensus on the number of spontaneous pregnancy losses a couple must experience before undergoing genetic evaluation or when a couple with sub-fertility should undergo genetic evaluation. As such genetic testing tends to take a back seat especially in countries like Sri Lanka where such testing is not freely available

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