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
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 533-537, 2019.
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.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
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Estudos Prospectivos
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Aberrações Cromossômicas
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Idade Materna
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Transtornos Cromossômicos
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Variações do Número de Cópias de DNA
Tipo de estudo:
Diagnostic_studies
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Observational_studies
Limite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Ano de publicação:
2019
Tipo de documento:
Article