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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2024; 11(04): 233-236
DOI: 10.1055/s-0045-1808068
Case Report

Prenatal Diagnosis of Unbalanced Translocations in Recurrent Pregnancy Losses in Two Couples

Avantika Gupta
1   Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Nagpur, Maharashtra, India
,
Minal Dhanvij
1   Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Nagpur, Maharashtra, India
,
Neha Gangane
1   Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Nagpur, Maharashtra, India
,
Piyush Bansal
1   Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Nagpur, Maharashtra, India
,
Medha Davile
1   Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Nagpur, Maharashtra, India
,
Unnati Shende
2   Department of Fetal Mdicine, Urvi Fetal Medicine Centre, Nagpur, Maharashtra, India
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Abstract

Unbalanced translocation is a type of chromosomal abnormality where a portion of one chromosome is attached to another chromosome, resulting in an imbalance in the genetic material. This can lead to adverse pregnancy outcomes in the form of recurrent pregnancy loss, developmental problems, or major structural anomalies, depending on the specific chromosomes and regions involved. This can happen de novo during gametogenesis or it can be inherited from a parent who carries a balanced translocation. For a couple where one partner is a carrier of balanced translocation, there is a need for a detailed genetic counseling regarding the ideal test to be done for diagnosis, options of assisted reproduction, and limitations of these tests. We aim to highlight these aspects through two case illustrations: a first couple who were carriers of balanced translocation and a second couple who had normal tests.

Keywords

balanced translocation - unbalanced translocation - genetic testing - genetic counseling - prenatal invasive testing

Authors' Contributions

All the authors have read and approved the final version of the manuscript.


Patients' Consent

A written informed consent was taken from the patient to submit her de-identified images.




Publication History

Article published online:
30 April 2025

© 2025. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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