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DOI: 10.1007/s40556-021-00318-2
Recurrent Fetal Hydrops: Importance of Genetic Testing with Exome Sequencing—A Case Report
Abstract
We report the case of a pregnant lady who had hydrops fetalis in three successive pregnancies and discuss the possible genetic causes and the systematic approach to evaluation of her pregnancy and her future reproductive options. Hydrops fetalis can occur due to a heterogeneous number of causes. Systematic evaluation helps in determining the cause which then determines the prognosis as well as recurrence in future pregnancies. Recurrent hydrops though rare, can occur because of single gene defects causing hematological, neurological, cardiac conditions, etc. Genetic testing and consideration of the role of exome sequencing is important in counseling families regarding their future pregnancy options as well as to offer prenatal diagnosis.
Keywords
Hydrops - Recurrent - Genetic mutations - Cardiomyopathy - Counseling - Exome sequencing - Case reportPublication History
Received: 20 July 2021
Accepted: 14 September 2021
Article published online:
05 May 2023
© 2021. 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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