Consensus on technological standards for non-invasive prenatal screening of pathogenic copy number variations by high-throughput sequencing of maternal plasma cell-free DNA / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 613-619, 2021.
Article
em Zh
| WPRIM
| ID: wpr-888359
Biblioteca responsável:
WPRO
ABSTRACT
Genomic disorders caused by pathogenic copy number variation (pCNV) have proven to underlie a significant proportion of birth defects. With technological advance, improvement of bioinformatics analysis procedure, and accumulation of clinical data, non-invasive prenatal screening of pCNV (NIPS-pCNV) by high-throughput sequencing of maternal plasma cell-free DNA has been put to use in clinical settings. Specialized standards for clinical application of NIPS-pCNV are required. Based on the discussion, 10 pCNV-associated diseases with well-defined conditions and 5 common chromosomal aneuploidy syndromes are recommended as the target of screening in this consensus. Meanwhile, a standardized procedure for NIPS-pCNV is also provided, which may facilitate propagation of this technique in clinical settings.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
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Consenso
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Variações do Número de Cópias de DNA
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Sequenciamento de Nucleotídeos em Larga Escala
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Ácidos Nucleicos Livres
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Aneuploidia
Tipo de estudo:
Diagnostic_studies
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Guideline
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Screening_studies
Limite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Article