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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2023; 10(02): 069-072
DOI: 10.1055/s-0043-57037
Case Report

Recurrent Nonimmune Fetal Hydrops Due to a Novel Pathogenic Variant in PIEZO1 Gene: A Case Report from South India

Lekshmi Sivaraman Nair 
1   Department of Clinical Genetics, NIMS Medicity, Trivandrum, Kerala, India
,
Aditi Dubey
2   Department of Fetal Medicine, ARMC Aegis Hospital, Perinthlamanna, Kerala, India
,
Nisha Mohan
3   Department of Clinical Genetics, ARMC Aegis Hospital, Perinthlamanna, Kerala, India
,
Seneesh Kumar Vikraman
2   Department of Fetal Medicine, ARMC Aegis Hospital, Perinthlamanna, Kerala, India
,
Jay Desai
3   Department of Clinical Genetics, ARMC Aegis Hospital, Perinthlamanna, Kerala, India
,
Manasa Madadi
3   Department of Clinical Genetics, ARMC Aegis Hospital, Perinthlamanna, Kerala, India
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Abstract

Nonimmune fetal hydrops (NIFH) has underlying diverse etiology with generalized lymphatic dysplasia being one such cause. Lymphatic malformation-6 is a type of lymphatic dysplasia that is due to homozygous or compound heterozygous variants in the PIEZO1 gene. The clinical features associated with this condition during fetal life are nonimmune fetal hydrops that manifests with widespread lymphatic edema, with other systemic manifestations like pericardial/pleural effusions, chylothorax along with lymphangiectasia seen primarily in lungs and intestines. We present a case of recurrent NIFH in a family due to a novel pathogenic mutation in PIEZO1 gene. This variant was identified in homozygous state in all the three affected fetuses and in heterozygous state in both the parents. The couple were counseled regarding recurrence of this condition and given reproductive options for future pregnancies.

Keywords

lymphatic malformation-6 - generalized lymphatic dysplasia - lymphangiectasia - nonimmune hydrops fetalis - PIEZO1 gene


Publication History

Article published online:
12 May 2023

© 2023. 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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