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

ABSTRACT:

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 phenotypes differ from postnatal and, therefore, prenatal ES interpretation requires a large amount of data deriving from prenatal testing. The aim of our study was to present initial results of the implementation of ES to prenatal diagnosis in Polish patients and to discuss its possible clinical impact on genetic counseling.

Methods

In this study we performed a retrospective review of all fetal samples referred to our laboratory for ES from cooperating centers between January 2017 an

SUBMITTER: Kucinska-Chahwan A 

PROVIDER: S-EPMC9140952 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature