Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience

Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now increasingly used in clinical practice. Fetal phe...

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Detalles Bibliográficos
Autores principales: Kucińska-Chahwan, Anna, Geremek, Maciej, Roszkowski, Tomasz, Bijok, Julia, Massalska, Diana, Ciebiera, Michał, Correia, Hildeberto, Pereira-Caetano, Iris, Barreta, Ana, Obersztyn, Ewa, Kutkowska-Kaźmierczak, Anna, Własienko, Paweł, Krajewska-Walasek, Małgorzata, Węgrzyn, Piotr, Dudarewicz, Lech, Krzeszowski, Waldemar, Rybak-Krzyszkowska, Magda, Nowakowska, Beata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140952/
https://www.ncbi.nlm.nih.gov/pubmed/35627109
http://dx.doi.org/10.3390/genes13050724

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140952/
https://www.ncbi.nlm.nih.gov/pubmed/35627109
http://dx.doi.org/10.3390/genes13050724

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