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

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
› Author Affiliations


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.

Publication History

Article published online:
12 May 2023

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