Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause

Sawsan Abdullah; Zuhair Rahbeeni

doi:10.24911/JBCGenetics/183-1614443590

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Case Report
Online Published: 25 Jul 2021

JBCGenetics. 2021; 4(2): 112-114

doi: 10.24911/JBCGenetics/183-1614443590

Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause

Sawsan Abdullah, Zuhair Rahbeeni.

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.

Key words: Congenital heart defects, exome sequencing analysis, non-immune hydrops fetalis, thrombospondin 1 domain-containing protein 1.

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Pubmed Style

Abdullah S, Rahbeeni Z. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. JBCGenetics. 2021; 4(2): 112-114. doi:10.24911/JBCGenetics/183-1614443590

Web Style

Abdullah S, Rahbeeni Z. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. https://www.jbcgenetics.com/?mno=59639 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1614443590

AMA (American Medical Association) Style

Abdullah S, Rahbeeni Z. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. JBCGenetics. 2021; 4(2): 112-114. doi:10.24911/JBCGenetics/183-1614443590

Vancouver/ICMJE Style

Abdullah S, Rahbeeni Z. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. JBCGenetics. (2021), [cited November 14, 2024]; 4(2): 112-114. doi:10.24911/JBCGenetics/183-1614443590

Harvard Style

Abdullah, S. & Rahbeeni, . Z. (2021) Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. JBCGenetics, 4 (2), 112-114. doi:10.24911/JBCGenetics/183-1614443590

Turabian Style

Abdullah, Sawsan, and Zuhair Rahbeeni. 2021. Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. Journal of Biochemical and Clinical Genetics, 4 (2), 112-114. doi:10.24911/JBCGenetics/183-1614443590

Chicago Style

Abdullah, Sawsan, and Zuhair Rahbeeni. "Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause." Journal of Biochemical and Clinical Genetics 4 (2021), 112-114. doi:10.24911/JBCGenetics/183-1614443590

MLA (The Modern Language Association) Style

Abdullah, Sawsan, and Zuhair Rahbeeni. "Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause." Journal of Biochemical and Clinical Genetics 4.2 (2021), 112-114. Print. doi:10.24911/JBCGenetics/183-1614443590

APA (American Psychological Association) Style

Abdullah, S. & Rahbeeni, . Z. (2021) Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause. Journal of Biochemical and Clinical Genetics, 4 (2), 112-114. doi:10.24911/JBCGenetics/183-1614443590

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