地中海贫血的快速产前基因诊断

Rapid Prenatal Diagnosis for Thalassemia

本研究采用聚合酶链反应(PCR)技术,完成了20例重症β-地中海贫血(β-地贫)及2例重症α-地中海贫血(α-地贫)高危胎儿的产前基因诊断。20倒重症β-地贫高危胎儿中,双重杂合子及纯合子6例,杂合子10例,正常胎儿4例,其中10例已经正常分娩后或流产后基因分析验证,结果与产前诊断完全一致。讨论了三种取材方法及影响PCR的主要因素。PCR技术具有简便快速、早期取材、诊断率高及结果准确可靠等优点,便于推广使用。

By means of polymerase chain reaction (PCR), prenatal diagnoses were successfully made in 20 fetuses at risk for β-thalassemia homozygotes and 2 at risk for Bart's hydrops fetalis.Six pregnancies with homozygotes or double hete-rozygotes of β-thalassemia were therapeutically terminated. Ten fetuses were predicted to be p-thalassemia heterozygotes and 4 were normal. Hydrops fetalis was excluded in two fetuses. The predictions have so far been confirmed after delivery or therapeutic abortion, and no discrepancy was found. The advanta ges of this technique are discussed.