Non‐invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an “in‐house” target enrichment next generation sequencing—Solution for non‐centralized NIPT laboratory?

What is already known about this topic? Non‐invasive prenatal testing (NIPT) using a whole‐genome approach via next generation sequencing (NGS) to detect the fetal genome is currently standard practice. Copy number variant and gene analyses using targeted enrichment have previously been integrated w...

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Veröffentlicht in:	Prenatal diagnosis 2023-09, Vol.43 (10), p.1320-1332
Hauptverfasser:	Faldynová, Lucie, Walczysková, Sylwia, Černá, Dita, Kudrejová, Monika, Hilscherová, Šárka, Kaniová, Romana, Širůčková, Simona
Format:	Artikel
Sprache:	eng
Schlagworte:	Chromosomes Copy number Deoxyribonucleic acid DNA Enrichment Fetuses Genetics Genomic analysis Laboratories Next-generation sequencing Sensitivity analysis
Online-Zugang:	Volltext
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