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Validation of fetus aneuploidy in 221 Korean clinical samples using noninvasive chromosome examination: Clinical laboratory improvement amendments-certified noninvasive prenatal test
Journal of Genetic Medicine ; : 79-84, 2015.
Artigo em Inglês | WPRIM | ID: wpr-195767
ABSTRACT

PURPOSE:

We developed and validated a fetal trisomy detection method for use as a noninvasive prenatal test (NIPT) including a Clinical Laboratory Improvement Amendments (CLIA)-certified bioinformatics pipeline on a cloud-based computing system using both Illumina and Life Technology sequencing platforms for 221 Korean clinical samples. We determined the necessary proportions of the fetal fraction in the cell-free DNA (cfDNA) sample for NIPT of trisomies 13, 18, and 21 through a limit of quantification (LOQ) test. MATERIALS AND

METHODS:

Next-generation sequencing libraries from 221 clinical samples and three positive controls were generated using Illumina and Life Technology chemistries. Sequencing results were uploaded to a cloud and mapped on the human reference genome (GRCh37/hg19) using bioinformatics tools. Based on Z-scores calculated by normalization of the mapped read counts, final aneuploidy reports were automatically generated for fetal aneuploidy determination.

RESULTS:

We identified in total 29 aneuploid samples, and additional analytical methods performed to confirm the results showed that one of these was a false-positive. The LOQ test showed that the proportion of fetal fraction in the cfDNA sample would affect the interpretation of the aneuploidy results.

CONCLUSION:

Noninvasive chromosome examination (NICE), a CLIA-certified NIPT with a cloud-based bioinformatics platform, showed unambiguous success in fetus aneuploidy detection.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / Trissomia / DNA / Genoma / Biologia Computacional / Sequenciamento de Nucleotídeos em Larga Escala / Feto / Aneuploidia Tipo de estudo: Estudo diagnóstico Limite: Humanos Idioma: Inglês Revista: Journal of Genetic Medicine Ano de publicação: 2015 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / Trissomia / DNA / Genoma / Biologia Computacional / Sequenciamento de Nucleotídeos em Larga Escala / Feto / Aneuploidia Tipo de estudo: Estudo diagnóstico Limite: Humanos Idioma: Inglês Revista: Journal of Genetic Medicine Ano de publicação: 2015 Tipo de documento: Artigo