Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
Journal
NPJ genomic medicine
ISSN: 2056-7944
Titre abrégé: NPJ Genom Med
Pays: England
ID NLM: 101685193
Informations de publication
Date de publication:
08 Sep 2024
08 Sep 2024
Historique:
received:
24
01
2024
accepted:
30
08
2024
medline:
9
9
2024
pubmed:
9
9
2024
entrez:
8
9
2024
Statut:
epublish
Résumé
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 to term (119 unaffected and 16 NF1 affected children), 69 pregnancy terminations (affected fetuses), 2 miscarriages, and 1 in utero death. The majority of PND requests came from parents with sporadic NF1. We describe two PNDs in women with mosaic NF1. In both families, direct PND showed the absence of the maternal NF1 variant in the fetus. However, microsatellite markers analysis showed that the risk haplotype had been transmitted. These rare cases of germline mosaicism illustrate the pitfall of indirect PND. Our study illustrates the crucial consequences of PND for medical and genetic counseling decisions. We also point to the challenges of germline mosaics.
Identifiants
pubmed: 39245665
doi: 10.1038/s41525-024-00425-9
pii: 10.1038/s41525-024-00425-9
doi:
Types de publication
Journal Article
Langues
eng
Pagination
41Informations de copyright
© 2024. The Author(s).
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