Cell-free DNA test for pathogenic copy number variations: A retrospective study.

Duan, Hong-Lei; Li, Jie; Wang, Wan-Jun; Cram, David S; Liu, Wei; Cao, Pei-Xuan; Zhu, Xiang-Yu; Hu, Ya-Li

Duan, Hong-Lei; Li, Jie; Wang, Wan-Jun; Cram, David S; Liu, Wei; Cao, Pei-Xuan; Zhu, Xiang-Yu; Hu, Ya-Li.

Afiliação

Duan HL; Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China.
Li J; Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China.
Wang WJ; Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China.
Cram DS; Berry Genomics Corporation, Beijing, China.
Liu W; Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China.
Cao PX; Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China.
Zhu XY; Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China.
Hu YL; Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China. Electronic address: glyyhuyali@163.com.

Taiwan J Obstet Gynecol ; 60(6): 1066-1071, 2021 Nov.

Article em En | MEDLINE | ID: mdl-34794739

Assuntos

Transtornos Cromossômicos/diagnóstico; Variações do Número de Cópias de DNA/genética; DNA/sangue; Testes Genéticos/métodos; Análise em Microsséries/métodos; Diagnóstico Pré-Natal/métodos; Adulto; Ácidos Nucleicos Livres/genética; Aberrações Cromossômicas; Transtornos Cromossômicos/genética; Feminino; Humanos; Gravidez; Estudos Retrospectivos; Análise de Sequência de DNA

Palavras-chave

Cell-free DNA; Copy number variations (CNVs); Detection rate (DR); Microdeletion syndromes; Microduplication syndromes

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / DNA / Testes Genéticos / Transtornos Cromossômicos / Análise em Microsséries / Variações do Número de Cópias de DNA Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Pregnancy Idioma: En Revista: Taiwan J Obstet Gynecol Assunto da revista: GINECOLOGIA / OBSTETRICIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China

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