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

Open access Creative Commons License

Pubmed Style

Sawsan Abdullah, Zuhair Rahbeeni. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. JBC Genetics. 2021; 25 (July 2021): 112-114. doi:10.24911/JBCGenetics/183-1614443590

Web Style

Sawsan Abdullah, Zuhair Rahbeeni. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. https://www.jbcgenetics.com/index.php/articles/2139 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1614443590

AMA (American Medical Association) Style

Sawsan Abdullah, Zuhair Rahbeeni. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. JBC Genetics. 2021; 25 (July 2021): 112-114. doi:10.24911/JBCGenetics/183-1614443590

Vancouver/ICMJE Style

Sawsan Abdullah, Zuhair Rahbeeni. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. JBC Genetics. (2021), [cited April 27, 2025]; 25 (July 2021): 112-114. doi:10.24911/JBCGenetics/183-1614443590

Harvard Style

Sawsan Abdullah, Zuhair Rahbeeni (2021) Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. JBC Genetics, 25 (July 2021): 112-114. doi:10.24911/JBCGenetics/183-1614443590

Chicago Style

Sawsan Abdullah, Zuhair Rahbeeni. "Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause." 25 (2021), 112-114. doi:10.24911/JBCGenetics/183-1614443590

MLA (The Modern Language Association) Style

Sawsan Abdullah, Zuhair Rahbeeni. "Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause." 25.July 2021 (2021), 112-114. Print. doi:10.24911/JBCGenetics/183-1614443590

APA (American Psychological Association) Style

Sawsan Abdullah, Zuhair Rahbeeni (2021) Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. , 25 (July 2021), 112-114. doi:10.24911/JBCGenetics/183-1614443590