Prenatal testing for imprinting disorders: A laboratory perspective.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
revised:
07
06
2023
received:
06
02
2023
accepted:
13
06
2023
medline:
18
7
2023
pubmed:
21
6
2023
entrez:
21
6
2023
Statut:
ppublish
Résumé
Imprinting Disorders (ImpDis) are a group of congenital syndromes associated with up to four different types of molecular disturbances affecting the monoallelic and parent-of-origin specific expression of genomically imprinted genes. Though each ImpDis is characterized by aberrations at a distinct genetic site and a specific set of postnatal clinical signs, there is a broad overlap between several of them. In particular, the prenatal features of ImpDis are non-specific. Therefore, the decision on the appropriate molecular testing strategy is difficult. A further molecular characteristic of ImpDis is (epi)genetic mosaicism, which makes prenatal testing for ImpDis challenging. Accordingly, sampling and diagnostic workup has to consider the methodological limitations. Furthermore, the prediction of the clinical outcome of a pregnancy can be difficult. False-negative results can occur, and therefore fetal imaging should be the diagnostic tool on which decisions on the management of the pregnancy should be based. In summary, the decision for molecular prenatal testing for ImpDis should be based on close exchanges between clinicians, geneticists, and the families before the initiation of the test. These discussions should weigh the chances and challenges of the prenatal test, with focus on the need of the family.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
973-982Subventions
Organisme : Deutsche Forschungsgemeinschaft
ID : EG 115/13-1
Organisme : Italian Ministry of Health
ID : 08C724
Organisme : Italian Ministry of Health
ID : 08C123
Informations de copyright
© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
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