地中海贫血产前基因诊断技术的临床应用

The clinical applications of prenatal genetic diagnosis for thalassemia

地中海贫血是全球广为流行的遗传性溶血性疾病,是最常见的单基因遗传病之一。因缺乏理想的治疗手段,在高发地区通过对高风险夫妇进行产前基因诊断以避免重症地中海贫血患儿的出生,是国际上公认的首选预防措施。目前,临床广泛应用侵入性手术取得胎儿DNA并采用多种分子检测技术进行基因诊断,但有一定胎儿流产和宫内感染的风险。以胎儿游离DNA为检测标靶的无创产前诊断技术的迅速发展,为建立一种安全快速、简便准确的早期地中海贫血产前基因诊断方法带来可能。本文就目前应用于地中海贫血产前基因诊断的多种技术作一述评。

Thalassemia is one of the most common monogenic inherited diseases,with the highest prevalence in the world.Due to the lack of an ideal treatment,currently the first-choice method is the prevention of births of children with severe cases as detected by prenatal genetic diagnosis for high-risk couples in high-prevalence areas.Currently,the widely used invasive operation used to obtain fetal genetic material for genetic diagnosis has the risk of miscarriage or intrauterine infection.Since the cell-free fetal DNA-based noninvasive prenatal diagnosis technology has been rapidly developed,it is likely to establish a safe,rapid,simple and accurate method for early prenatal diagnosis of thalassemia in future.In this review,the applications of the molecular tests currently used for prenatal genetic diagnosis of thalassemia are briefly reviewed.