TY - JOUR
T1 - Nonimmune hydrops fetalis
T2 - identifying the underlying genetic etiology
AU - on behalf of the University of California Fetal–Maternal Consortium (UCfC)
AU - Sparks, Teresa N.
AU - Thao, Kao
AU - Lianoglou, Billie R.
AU - Boe, Nina
AU - Bruce, Kari G.
AU - Datkhaeva, Ilina
AU - Field, Nancy T
AU - Fratto, Victoria M.
AU - Jolley, Jennifer
AU - Laurent, Louise C.
AU - Mardy, Anne H.
AU - Murphy, Aisling M.
AU - Ngan, Emily
AU - Rangwala, Naseem
AU - Rottkamp, Catherine
AU - Wilson, Lisa
AU - Wu, Erica
AU - Uy, Cherry C.
AU - Valdez Lopez, Priscila
AU - Norton, Mary E.
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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.
AB - 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.
KW - diagnostic evaluation
KW - etiology
KW - genetic
KW - hydrops fetalis
KW - nonimmune
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U2 - 10.1038/s41436-018-0352-6
DO - 10.1038/s41436-018-0352-6
M3 - Article
C2 - 30410095
AN - SCOPUS:85056309506
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
ER -