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Prenatal Diagnosis of ß-thalassemia with Cell-free Fetal DNA in Maternal Plasma.
J Coll Physicians Surg Pak ; 29(5): 483-485, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31036126
The aim of this study was to explore the feasibility of non-invasive prenatal genetic diagnosis of ß-thalassemia with small fragments of cell-free fetal DNA (cffDNA) in peripheral blood of pregnant women. It was an observational study carried out at Department of Obstetrics, The People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China, from January 2016 to March 2018. A total of 40 pregnant women, who were likely to give birth to babies with severe ß-thalassemia, were selected, and ß-globin genotype of the fetus was non-invasively detected by cffDNA in peripheral blood of their mothers. Small fragments of cffDNA from all specimens were successfully amplified. Compared with the results of traumatic prenatal diagnosis, 37 cases (92.50%) were diagnosed and 3 cases (7.50%) were misdiagnosed. The cffDNA in maternal plasma can be used for non-invasive prenatal genetic diagnosis of ß-thalassemia, and is worthy of promotion.





Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / DNA / Gravidez / Amplificação de Genes / Talassemia beta / Globinas beta / Ácidos Nucleicos Livres Aspecto clínico: Diagnóstico / Predição / Prognóstico Limite: Adulto / Feminino / Humanos Idioma: Inglês Revista: J Coll Physicians Surg Pak Assunto da revista: Medicina Ano de publicação: 2019 Tipo de documento: Artigo País de afiliação: China