First trimester recurrent pregnancy loss due to balanced chromosomal translocations in husband: A case report
Tuan Nadrah Naim Tuan Ismail 1 2 , Noraini Mohamad 1 2 * , Zainab Mat Yudin 1 2 , Nazihah Mohd Yunus 2 3
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1 School of Dental Sciences, Universiti Sains Malaysia, Kelantan, MALAYSIA2 Hospital Universiti Sains Malaysia, Health Campus, Kelantan, MALAYSIA3 Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, MALAYSIA* Corresponding Author

Abstract

Early pregnancy loss in a wanted pregnancy is stressful and frustrating to any couple. It becomes even more emotionally traumatic when it occurs repeatedly. Two or more of early pregnancy loss is known as recurrent pregnancy loss (RPL). RPL is a clinical challenge for physicians to unriddle. In this case report, we illustrate a case of a 40-year-old woman who experienced six recurrent first-trimester pregnancy losses. After the third pregnancy loss, initial maternal blood investigations were done, and the results were normal. After the fifth miscarriage, both partners’ blood was tested for the cytogenetic study, and her cytogenetic analysis revealed a normal karyotype. However, the paternal showed balanced translocation 46, XY, t(6;13) (q13;14.1) with a balanced translocation between the long arm of chromosome 6 at position 6q13 and the long arm of chromosome 13 at position 13q14.1. When the initial blood investigation is considered normal, a chromosomal study is one of important etiological investigation in couples with RPL.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

ELECTRON J GEN MED, Volume 20, Issue 1, February 2023, Article No: em440

https://doi.org/10.29333/ejgm/12702

Publication date: 01 Jan 2023

Online publication date: 11 Dec 2022

Article Views: 980

Article Downloads: 1314

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