Chern S R, Chen C P
Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
Int J Gynaecol Obstet. 2000 May;69(2):103-6. doi: 10.1016/s0020-7292(99)00211-8.
Thalassemia is a highly prevalent genetic disorder in Taiwan. The major goal of this study was to present a feasible protocol for the prenatal diagnosis of thalassemia.
Prenatal investigation of thalassemia was performed on 57 at-risk cases at the Mackay Memorial Hospital, Taipei, Taiwan. We developed a method using polymerase chain reaction (PCR) and high-throughput DNA sequencing to detect mutations. All diagnoses were confirmed after delivery.
Prenatal testing revealed 16 normal fetuses, 24 alpha-thal-1 carriers, eight Hb Bart's hydrops fetalis, seven beta-thalassemia minor, and two beta-thalassemia major fetuses. No false-positive or false-negative cases were found during the postnatal follow-ups.
The results of this study indicate that prenatal diagnosis of thalassemia syndromes in Taiwan is successful with the use of a rapid and accurate molecular method.
地中海贫血在台湾是一种高度流行的遗传性疾病。本研究的主要目的是提出一种可行的地中海贫血产前诊断方案。
对台湾台北市马偕纪念医院的57例高危病例进行了地中海贫血的产前调查。我们开发了一种使用聚合酶链反应（PCR）和高通量DNA测序来检测突变的方法。所有诊断在分娩后得到证实。
产前检测发现16例正常胎儿、24例α-地中海贫血1携带者、8例巴氏水肿胎儿、7例轻型β-地中海贫血和2例重型β-地中海贫血胎儿。产后随访期间未发现假阳性或假阴性病例。
本研究结果表明，在台湾使用快速准确的分子方法成功地进行了地中海贫血综合征的产前诊断。
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