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Application of copy number variation sequencing for prenatal diagnosis in women at an advanced maternal age / 中华医学遗传学杂志
Article em Zh | WPRIM | ID: wpr-771975
Biblioteca responsável: WPRO
ABSTRACT
OBJECTIVE@#To assess the value of copy number variation analysis based on next generation sequencing (CNV-seq) in prenatal diagnosis for women at advanced maternal age.@*METHODS@#A prospective analysis was carried out for women who underwent amniocentesis at 18~36 weeks of gestation for fetal CNV-seq for advanced maternal age.@*RESULTS@#For 1461 unrelated Chinese women with a singleton pregnancy, CNV-seq was performed for all samples successfully. The proportion of chromosomal abnormalities was 2.3% (34/1461), of which 44.12% were submicroscopic copy number variations (<5 Mb).@*CONCLUSION@#Pregnant women at an advanced maternal age should be informed for not only common trisomies but all pathogenic chromosomal aberrations. NGS was a sensitive and accurate approach for detecting CNVs.
Assuntos
Texto completo: 1 Índice: WPRIM Assunto principal: Diagnóstico Pré-Natal / Estudos Prospectivos / Aberrações Cromossômicas / Idade Materna / Transtornos Cromossômicos / Variações do Número de Cópias de DNA Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Female / Humans / Pregnancy Idioma: Zh Revista: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Ano de publicação: 2019 Tipo de documento: Article
Texto completo: 1 Índice: WPRIM Assunto principal: Diagnóstico Pré-Natal / Estudos Prospectivos / Aberrações Cromossômicas / Idade Materna / Transtornos Cromossômicos / Variações do Número de Cópias de DNA Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Female / Humans / Pregnancy Idioma: Zh Revista: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Ano de publicação: 2019 Tipo de documento: Article