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. 2019 Jun;21(6):1339-1344.
doi: 10.1038/s41436-018-0352-6. Epub 2018 Nov 9.

Nonimmune hydrops fetalis: identifying the underlying genetic etiology

Teresa N Sparks  1   2 , Kao Thao  3 , Billie R Lianoglou  3   4 , Nina M Boe  5 , Kari G Bruce  6 , Ilina Datkhaeva  7 , Nancy T Field  5 , Victoria M Fratto  8 , Jennifer Jolley  9 , Louise C Laurent  8 , Anne H Mardy  3 , Aisling M Murphy  7 , Emily Ngan  8 , Naseem Rangwala  3 , Catherine A M Rottkamp  10 , Lisa Wilson  3 , Erica Wu  6 , Cherry C Uy  6 , Priscila Valdez Lopez  3 , Mary E Norton  3   4 ; University of California Fetal–Maternal Consortium (UCfC)
Affiliations

Nonimmune hydrops fetalis: identifying the underlying genetic etiology

Teresa N Sparks et al. Genet Med. 2019 Jun.

Abstract

Purpose: Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large, contemporary, and diverse cohort, as well as to describe the etiologies with a focus on genetic causes.

Methods: Retrospective review of NIHF cases between 2015 and 2017 from the five University of California Fetal-Maternal Consortium sites. Singleton pregnancies with prenatally diagnosed NIHF were included, and cases with maternal alloimmunization were excluded. Cases were categorized as being of confirmed, suspected, or unknown etiology.

Results: Sixty-five NIHF cases were identified. Forty-six percent (30/65) remained of unknown etiology, while 9.2% (6/65) had a suspected etiology and 44.6% (29/65) were of confirmed etiology. Among confirmed cases, 11 resulted from aneuploidy; 7 from fetal structural anomalies; 2 each from fetal arrhythmia, Noonan syndrome, and generalized lymphatic dysplasia; and 1 each from arthrogryposis, parvovirus, neonatal alloimmune thrombocytopenia, fetal goiter, and Kasabach-Merritt syndrome.

Conclusion: In this contemporary, multicenter study, the cause of prenatally diagnosed NIHF was confirmed in only 44% of cases, and a genetic etiology was found in only 25% of those that received standard of care genetic testing.

Keywords: diagnostic evaluation; etiology; genetic; hydrops fetalis; nonimmune.

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Conflict of interest statement

DISCLOSURE

Ultragenyx has provided financial support for studies conducted through the UCSF Center for Maternal-Fetal Precision Medicine. M.E.N. is a consultant to Invitae and has received research funding from Natera, but this funding was not applied to this study. The other authors declare no conflicts of interest.

References

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