Li Guang-hua, Rong Ka-bin, Luo Yan-fei, Chen Dong, Gong Cai-ping, Wu Jin, DI Yu-wei, Ge Yan-fen
Guangdong Academy of Medical Science, Guangzhou 51008, China.
Nan Fang Yi Ke Da Xue Xue Bao. 2011 Aug;31(8):1437-9.
To investigate the clinical feasibility of cell-free fetal DNA (cffDNA)-based noninvasive prenatal diagnosis of β-thalassemia.
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.
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.
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.
探讨基于游离胎儿DNA（cffDNA）的β地中海贫血无创产前诊断的临床可行性。
获取9份羊水样本，检测广东省β地中海贫血的8个常见和9个相对罕见突变位点。同时采集孕妇血液样本提取和纯化cffDNA，使用3对引物进行双重PCR，并通过反向点杂交分析胎儿β珠蛋白基因型。
9例中，经羊水检查5例显示胎儿β地中海贫血基因型由父亲遗传，基于孕妇血液中cffDNA确定2例胎儿有由父亲遗传的β地中海贫血基因。
基于cffDNA的β地中海贫血无创产前诊断可行，但母体背景DNA污染导致检测率较低。
