Determination of Chromosomal Abnormalities in Couples with Recurrent Pregnancy Loss at University of Calabar Teaching Hospital

📖 ABSTRACT/OVERVIEW

Recurrent pregnancy loss (RPL), defined as two or more consecutive pregnancy losses before 20 weeks of gestation, affects approximately one to five percent of couples worldwide. Chromosomal abnormalities in either partner have been identified as significant aetiological factors in RPL. This study investigated the prevalence and types of chromosomal abnormalities among couples presenting with RPL at the University of Calabar Teaching Hospital, South South Nigeria. A retrospective cross-sectional design was adopted, with cytogenetic data extracted from 120 couple case files over a five-year period (2019 to 2023). Conventional karyotyping using G-banding technique was employed to characterise chromosomal profiles. Clinical data including number of previous losses, gestational age at loss, and family reproductive history were also recorded. Balanced translocations, particularly Robertsonian translocations involving chromosomes 13 and 14, were the most frequently detected abnormalities among affected partners. A smaller proportion of female patients exhibited sex chromosome mosaicism. These cytogenetic findings have direct implications for preconception genetic counselling and assisted reproductive technology decision-making. This study enriches the genetic epidemiology dataset for South South Nigeria and recommends routine karyotyping for all RPL couples in the region. Keywords: recurrent pregnancy loss, chromosomal abnormalities, karyotyping, Calabar, translocation

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Departments# Genetics