Back to Search Start Over

Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience

Authors :
Katia Margiotti
Marco Fabiani
Antonella Cima
Francesco Libotte
Alvaro Mesoraca
Claudio Giorlandino
Source :
Current Issues in Molecular Biology, Vol 46, Iss 4, Pp 3209-3217 (2024)
Publication Year :
2024
Publisher :
MDPI AG, 2024.

Abstract

Fetal anomalies, characterized by structural or functional abnormalities occurring during intrauterine life, pose a significant medical challenge, with a notable prevalence, affecting approximately 2–3% of live births and 20% of spontaneous miscarriages. This study aims to identify the genetic cause of ultrasound anomalies through clinical exome sequencing (CES) analysis. The focus is on utilizing CES analysis in a trio setting, involving the fetuses and both parents. To achieve this objective, prenatal trio clinical exome sequencing was conducted in 51 fetuseses exhibiting ultrasound anomalies with previously negative results from chromosomal microarray (CMA) analysis. The study revealed pathogenic variants in 24% of the analyzed cases (12 out of 51). It is worth noting that the findings include de novo variants in 50% of cases and the transmission of causative variants from asymptomatic parents in 50% of cases. Trio clinical exome sequencing stands out as a crucial tool in advancing prenatal diagnostics, surpassing the effectiveness of relying solely on chromosomal microarray analysis. This underscores its potential to become a routine diagnostic standard in prenatal care, particularly for cases involving ultrasound anomalies.

Details

Language :
English
ISSN :
14673045 and 14673037
Volume :
46
Issue :
4
Database :
Directory of Open Access Journals
Journal :
Current Issues in Molecular Biology
Publication Type :
Academic Journal
Accession number :
edsdoj.3b12cc06c3e3433f88af0926c66469f2
Document Type :
article
Full Text :
https://doi.org/10.3390/cimb46040201