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

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

Authors: Sawsan Abdullah, Zuhair Rahbeeni.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1614443590

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.


© Copyright: Author(s)

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


Authors
Sawsan Abdullah
King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Zuhair Rahbeeni
King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles


Correspondence to:
. Sawsan Abdullah, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; dr_sawsan2014@hotmail.com

Publication history
Received 27 Feb 2021
Revised 10 May 2021
Accepted 20 May 2021
Published online 25 Jul 2021
Published in print 28 Aug 2021

How to cite this article

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: December 08, 2021]. 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 December 08, 2021]; 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


Click the icon of the social media platform on which you would like to share this article.