Article
Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.
Clinical genetics - 1 Dec 2024
Tenorio-Castano Jair, Mansilla Aparicio Elena, García Santiago Fe Amalia, Klotz Cherise M, Regojo Rita María, Anguita Estefanía, Ryan Erin, Juusola Jane, Herrero Beatriz, Arias Pedro, Parra Alejandro, Pascual Patricia, Gallego Natalia, Cazalla Mario, Rodriguez-González Roberto, Antolín Eugenia, Nevado Julián, Ruiz-Perez Víctor L, Lapunzina Pablo
Abstract excerpt
Non-immune hydrops fetalis (NIHF) is a rare entity characterized by excessive accumulation of fluid within the fetal extravascular compartments and body cavities. Here we present two intrauterine fetal demises with NIHF presenting with oligohydramnios, cystic hygroma, pleural effusion, and generalized hydrops with predominance of subcutaneous edema. The fetuses also presented with ascites, severe and precocious...
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