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

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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Bibliographic Details
Main Authors: Anna Kucińska-Chahwan, Maciej Geremek, Tomasz Roszkowski, Julia Bijok, Diana Massalska, Michał Ciebiera, Hildeberto Correia, Iris Pereira-Caetano, Ana Barreta, Ewa Obersztyn, Anna Kutkowska-Kaźmierczak, Paweł Własienko, Małgorzata Krajewska-Walasek, Piotr Węgrzyn, Lech Dudarewicz, Waldemar Krzeszowski, Magda Rybak-Krzyszkowska, Beata Nowakowska
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Genes
Subjects:
fetal anomalies
prenatal diagnosis
ultrasound
exome sequencing
genomic variant
genotype–phenotype correlation
Online Access:https://www.mdpi.com/2073-4425/13/5/724

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https://www.mdpi.com/2073-4425/13/5/724

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