Noninvasive Detection of Fetal Aneuploidy Using Next Generation Sequencing.
Methods Mol Biol
; 1885: 325-345, 2019.
Article
em En
| MEDLINE
| ID: mdl-30506208
ABSTRACT
Cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) utilizing next generation sequencing (NGS) is a highly sensitive and specific approach designed to screen for fetal aneuploidy. NIPT was first introduced in 2011 and has been rapidly adopted in a clinical setting because of the improved performance afforded compared with traditional prenatal serum screening options. We describe a PCR-free, paired-end sequencing-based NIPT, the VeriSeq NIPT Solution. This NIPT screens for fetal aneuploidy of chromosomes 21, 18, 13, X, and Y. Using the validated approach detailed here, users can achieve high sensitivities and specificities for trisomies 21, 18, and 13 as well as sex chromosome aneuploidies with low failure rates. The automated workflow can be completed in 1 day, with only 2 h of hands-on time from a single technician.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Testes Genéticos
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Aneuploidia
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article