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Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis.
- 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.)
- Subjects :
- Humans
Pregnancy
Female
Spain
Genetic Testing methods
Genetic Testing standards
Genetic Counseling methods
Genetic Counseling standards
Obstetrics standards
Obstetrics methods
Gynecology standards
Prenatal Diagnosis methods
Prenatal Diagnosis standards
High-Throughput Nucleotide Sequencing methods
High-Throughput Nucleotide Sequencing standards
Subjects
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