Back to Search Start Over

Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis.

Authors :
Abulí A
Antolín E
Borrell A
Garcia-Hoyos M
García Santiago F
Gómez Manjón I
Maíz N
González González C
Rodríguez-Revenga L
Valenzuena Palafoll I
Suela J
Source :
Journal of medical genetics [J Med Genet] 2024 Jul 19; Vol. 61 (8), pp. 727-733. Date of Electronic Publication: 2024 Jul 19.
Publication Year :
2024

Abstract

Objective: This document addresses the clinical application of next-generation sequencing (NGS) technologies for prenatal genetic diagnosis and aims to establish clinical practice recommendations in Spain to ensure uniformity in implementing these technologies into prenatal care.<br />Methods: A joint committee of expert obstetricians and geneticists was created to review the existing literature on fetal NGS for genetic diagnosis and to make recommendations for Spanish healthcare professionals.<br />Results: This guideline summarises technical aspects of NGS technologies, clinical indications in prenatal setting, considerations regarding findings to be reported, genetic counselling considerations as well as data storage and protection policies.<br />Conclusions: This document provides updated recommendations for the use of NGS diagnostic tests in prenatal diagnosis. These recommendations should be periodically reviewed as our knowledge of the clinical utility of NGS technologies, applied during pregnancy, may advance.<br />Competing Interests: Competing interests: MG-H works in NIMGenetics, a private genetics lab currently performing prenatal NGS.<br /> (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Details

Language :
English
ISSN :
1468-6244
Volume :
61
Issue :
8
Database :
MEDLINE
Journal :
Journal of medical genetics
Publication Type :
Academic Journal
Accession number :
38834294
Full Text :
https://doi.org/10.1136/jmg-2024-109878