Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test.
Common trisomies
comparing methodologies
genome-wide cell-free DNA test
partial imbalances
rare autosomal monosomy
rare autosomal trisomies
targeted cell-free DNA test
Journal
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
ISSN: 1476-4954
Titre abrégé: J Matern Fetal Neonatal Med
Pays: England
ID NLM: 101136916
Informations de publication
Date de publication:
Nov 2021
Nov 2021
Historique:
pubmed:
15
11
2019
medline:
21
9
2021
entrez:
15
11
2019
Statut:
ppublish
Résumé
To evaluate the failure rate and performance of cell-free DNA (cfDNA) testing as a first-line screening method for major trisomies, performed by two laboratories using different analytical methods: a targeted chromosome-selective method (Harmony CfDNA testing was performed in 3137 pregnancies with the Harmony The Harmony Comparison of cfDNA testing between these two laboratories showed a four-fold lower failure rate with the Harmony
Identifiants
pubmed: 31722585
doi: 10.1080/14767058.2019.1686478
doi:
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM