Teresa N Sparks1,2, Kao Thao3, Billie R Lianoglou3,4, Nina M Boe5, Kari G Bruce6, Ilina Datkhaeva7, Nancy T Field5, Victoria M Fratto8, Jennifer Jolley9, Louise C Laurent8, Anne H Mardy3, Aisling M Murphy7, Emily Ngan8, Naseem Rangwala3, Catherine A M Rottkamp10, Lisa Wilson3, Erica Wu6, Cherry C Uy6, Priscila Valdez Lopez3, Mary E Norton3,4. 1. Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA. teresa.sparks@ucsf.edu. 2. Fetal Treatment Center, University of California, San Francisco, CA, USA. teresa.sparks@ucsf.edu. 3. Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA. 4. Fetal Treatment Center, University of California, San Francisco, CA, USA. 5. Department of Obstetrics & Gynecology, University of California, Davis, CA, USA. 6. Department of Pediatrics, University of California, Irvine, CA, USA. 7. Department of Obstetrics & Gynecology, University of California, Los Angeles, CA, USA. 8. Department of Obstetrics, Gynecology, and Reproductive Biology, University of California, San Diego, CA, USA. 9. Department of Obstetrics & Gynecology, University of California, Irvine, CA, USA. 10. Department of Pediatrics, University of California, Davis, CA, USA.
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.
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.
Authors: Carolina A Moreno; Thatiane Kanazawa; Ricardo Barini; Marcelo L Nomura; Kléber C Andrade; Cristiane P Gomes; Juliana K Heinrich; Roberto Giugliani; Maira Burin; Denise P Cavalcanti Journal: Am J Med Genet A Date: 2013-08-16 Impact factor: 2.802
Authors: Carlo Bellini; Gloria Donarini; Dario Paladini; Maria Grazia Calevo; Tommaso Bellini; Luca A Ramenghi; Raoul C Hennekam Journal: Am J Med Genet A Date: 2015-02-25 Impact factor: 2.802
Authors: Angelique J A Kooper; Pim M W Janssens; Akosua N J A de Groot; Maria L F Liebrand-van Sambeek; Catharina J M G van den Berg; Gita B Tan-Sindhunata; Paul P van den Berg; Emilia K Bijlsma; Arie P T Smits; Ron A Wevers Journal: Clin Chim Acta Date: 2006-05-03 Impact factor: 3.786
Authors: Pia Ostergaard; Michael A Simpson; Fiona C Connell; Colin G Steward; Glen Brice; Wesley J Woollard; Dimitra Dafou; Tatjana Kilo; Sarah Smithson; Peter Lunt; Victoria A Murday; Shirley Hodgson; Russell Keenan; Daniela T Pilz; Ines Martinez-Corral; Taija Makinen; Peter S Mortimer; Steve Jeffery; Richard C Trembath; Sahar Mansour Journal: Nat Genet Date: 2011-09-04 Impact factor: 38.330
Authors: Maira G Burin; Ana P Scholz; Rejane Gus; Maria Teresa V Sanseverino; Alessandra Fritsh; José A Magalhães; Fernanda Timm; Patrícia Barrios; Marisa Chesky; Janice C Coelho; Roberto Giugliani Journal: Prenat Diagn Date: 2004-08 Impact factor: 3.050
Authors: Ilina Datkhaeva; Valerie A Arboleda; T Niroshi Senaratne; Gelareh Nikpour; Cherise Meyerson; Yipeng Geng; Yalda Afshar; Emily Scibetta; Jeffrey Goldstein; Fabiola Quintero-Rivera; Barbara F Crandall; Wayne W Grody; Joshua Deignan; Carla Janzen Journal: Am J Med Genet A Date: 2018-09-23 Impact factor: 2.802
Authors: Anne H Mardy; Naseem Rangwala; Yessenia Hernandez-Cruz; Kristen A Gosnell; Juan M Gonzalez; Mary E Norton; Teresa N Sparks Journal: Prenat Diagn Date: 2020-02-11 Impact factor: 3.050
Authors: Teresa N Sparks; Billie R Lianoglou; Rebecca R Adami; Ilina D Pluym; Kerry Holliman; Jennifer Duffy; Sarah L Downum; Sachi Patel; Amanda Faubel; Nina M Boe; Nancy T Field; Aisling Murphy; Louise C Laurent; Jennifer Jolley; Cherry Uy; Anne M Slavotinek; Patrick Devine; Ugur Hodoglugil; Jessica Van Ziffle; Stephan J Sanders; Tippi C MacKenzie; Mary E Norton Journal: N Engl J Med Date: 2020-10-07 Impact factor: 91.245
Authors: Mary E Norton; Jessica Van Ziffle; Billie R Lianoglou; Ugur Hodoglugil; W Patrick Devine; Teresa N Sparks Journal: Am J Obstet Gynecol Date: 2021-07-28 Impact factor: 8.661
Authors: F Mone; R Y Eberhardt; M E Hurles; D J Mcmullan; E R Maher; J Lord; L S Chitty; E Dempsey; T Homfray; J L Giordano; R J Wapner; L Sun; T N Sparks; M E Norton; M D Kilby Journal: Ultrasound Obstet Gynecol Date: 2021-10 Impact factor: 8.678
Authors: Betül Yakıştıran; Orhan Altınboğa; Emre Canpolat; Esra Şükran Çakar; Şevki Çelen; Ali Turhan Çağlar; Yaprak Engin Üstün Journal: J Turk Ger Gynecol Assoc Date: 2019-07-12
Authors: Ivonne Alexandra Bedei; Alexander Graf; Karl-Philipp Gloning; Matthias Meyer-Wittkopf; Daria Willner; Martin Krapp; Sabine Hentze; Alexander Scharf; Jan Degenhardt; Kai-Sven Heling; Peter Kozlowski; Kathrin Trautmann; Kai Jahns; Anne Geipel; Ismail Tekesin; Michael Elsässer; Lucas Wilhelm; Ingo Gottschalk; Jan-Erik Baumüller; Cahit Birdir; Felix Zöllner; Aline Wolter; Johanna Schenk; Tascha Gehrke; Corinna Keil; Jimmy Espinosa; Roland Axt-Fliedner Journal: J Clin Med Date: 2022-08-05 Impact factor: 4.964