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 ANDMETHODS:
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.
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
Similares
MEDLINE
...
LILACS
LIS