Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics

Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics

Abstract We report our 5-year experience in neurofibromatosis type 1 prenatal diagnosis (PND): 205 PNDs in 146 women (chorionic villus biopsies, 88% or amniocentesis, 12%). The NF1 variant was present in 85 (41%) and absent in 122 (59%) fetuses. Among 205 pregnancies (207 fetuses), 135 were carried...

Descripción completa

Detalles Bibliográficos
Autores principales: Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Theodora Maillard, Cécile Barbance, Ingrid Laurendeau, Bérénice Hébrard, Ariane Lunati-Rozie, Benoît Funalot, Pierre Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice-Picard, Djihad Hadjadj, Béatrice Parfait, Eric Pasmant
Formato: Artículo
Lenguaje:English
Publicado: Nature Portfolio 2024-09-01
Colección:npj Genomic Medicine
Acceso en línea:https://doi.org/10.1038/s41525-024-00425-9

Internet

https://doi.org/10.1038/s41525-024-00425-9

Ejemplares similares