Prenatal Diagnosis of Cystic Fibrosis and Hemophilia: Incidental Findings and Weak Points.
complex alleles
cystic fibrosis
de novo mutation
hemophilia
misattributed paternity
prenatal diagnosis
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
21 Dec 2019
21 Dec 2019
Historique:
received:
14
11
2019
revised:
16
12
2019
accepted:
19
12
2019
entrez:
28
12
2019
pubmed:
28
12
2019
medline:
28
12
2019
Statut:
epublish
Résumé
Because of the progression of genetics and genomics, the demand for prenatal diagnosis (PD) for inherited genetic diseases has increased. However, several incidental findings may emerge during PD, like misattributed paternity, the evidence of disease in a parent, and the possible misinterpretation of the results because of complex alleles or de novo mutations that have several implications. In a retrospective observational study on all the couples referred to our Medical School (1993-2018) for PD of genetic inherited diseases (
Identifiants
pubmed: 31877800
pii: diagnostics10010007
doi: 10.3390/diagnostics10010007
pmc: PMC7168058
pii:
doi:
Types de publication
Journal Article
Langues
eng
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
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