Case Report
Volume: 4 | Issue: 2 | Published: Jul 25, 2021 | Pages: 112 - 114 | DOI: 10.24911/JBCGenetics/183-1614443590
Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause
Authors: Sawsan Abdullah , Zuhair Rahbeeni
Article Info
Authors
Sawsan Abdullah
King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Zuhair Rahbeeni
King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Publication History
Received: February 27, 2021
Revised: May 10, 2021
Accepted: May 20, 2021
Published: July 25, 2021
Abstract
Background: Non-immune hydrops fetalis (NIHF) is the abnormal accumulation of serous fluid in more than two fetal or neonatal interstitial spaces due to non-immune causes. It is a serious condition that requires extensive medical care as it indicates severe fetal compromise. Severe anemia, infections, heart or lung defects, and liver disease are all possible causes. Less common causes of NIHF include single gene defects and chromosomal abnormalities. Case Presentation: We report a 2-month-old girl born at 32 weeks of gestation and found to have polyhydramnios and massive congenital ascites. Whole exome sequencing (WES) identified a biallelic pathogenic variant c.617G>A p. (Cys206Tyr) in the thrombospondin 1 domain-containing protein 1 (THSD1) gene. She was misdiagnosed to have ascites secondary to liver dysfunction. Conclusion: Rare causes of fetal hydrops like THSD1 mutation need to be excluded in cases of recurrent non-immune hydrops with no obvious etiology.
Keywords: Congenital heart defects, exome sequencing analysis, non-immune hydrops fetalis, thrombospondin 1 domain-containing protein 1
