Prenatal diagnosis of β-thalassaemia using cell-free fetal DNA in maternal plasma / 南方医科大学学报
Journal of Southern Medical University
; (12): 1437-1439, 2011.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-333892
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical feasibility of cell-free fetal DNA (cffDNA)-based noninvasive prenatal diagnosis of β-thalassemia.</p><p><b>METHODS</b>Nine samples of amniotic fluid were obtained to detect the 8 common and 9 relatively rare mutation sites of β-thalassaemia in Guangdong Province. The maternal blood samples were also collected for extracting and purification of the cffDNA, and a duplex PCR was performed using 3 pairs of primers and the fetal β-globin genotype was analyzed by reverse dot-blot hybridization.</p><p><b>RESULTS</b>Among the 9 cases, 5 showed fetal genotypes of β-thalassemia inherited from the father by examination of the amniotic fluid, and 2 fetuses were identified to have β-thalassemia genes inherited from the father determined based on the cffDNA in the maternal blood.</p><p><b>CONCLUSIONS</b>The cffDNA-based noninvasive prenatal diagnosis is feasible for β-thalassemia, but the contamination of the maternal background DNA results in a low detection rate.</p>
Texto completo:
Disponível
Contexto em Saúde:
ODS3 - Saúde e Bem-Estar
/
ODS3 - Meta 3.4 Reduzir as mortes prematuras devido doenças não transmissíveis
Problema de saúde:
Meta 3.1: Reduzir a mortalidade materna
/
Talassemia
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Sangue
/
DNA
/
Sistema Livre de Células
/
Testes Genéticos
/
Talassemia beta
/
Diagnóstico
/
Doenças Fetais
/
Feto
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Journal of Southern Medical University
Ano de publicação:
2011
Tipo de documento:
Artigo