Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing

The yield of genetic prenatal diagnosis has been notably improved by introducing whole genome chromosomal microarray (CMA) and prenatal exome sequencing (pES). However, together with increased numbers of diagnoses made, the need to manage challenging findings such as variants of unknown significance...

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Detalles Bibliográficos
Autores principales: Diderich, Karin E M, Klapwijk, Jasmijn E, van der Schoot, Vyne, Brüggenwirth, Hennie T, Joosten, Marieke, Srebniak, Malgorzata I
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Perspectives
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10198275/
https://www.ncbi.nlm.nih.gov/pubmed/37216148
http://dx.doi.org/10.2147/TACG.S411185

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10198275/
https://www.ncbi.nlm.nih.gov/pubmed/37216148
http://dx.doi.org/10.2147/TACG.S411185

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