产前超声指标在重型α-地中海贫血胎儿中的研究进展

Research Progress of Prenatal Ultrasonography in Fetuses with α-Thalassemia Major

α-地中海贫血(α-地贫)是一种东南亚地区常见的基因遗传病,其中重型α-地贫为致死性疾病。而超声检查为检测重型α-地贫有效、经济的筛查手段,其中以心胸比、胎盘厚度、大脑中动脉峰值流速等敏感超声指标在临床中最为常用。它们不但有助于评价胎儿的血流动力学和心功能状态,还可以在胎儿水肿出现前无创性预测重型α-地贫,减少侵入性检查造成的胎儿损伤和丢失。此外,其他超声指标(肝脏长度、心脏周长、脾周长等)也有一定的临床应用价值。未来,如能在高发地区综合运用以上超声指标进行早孕期重型α-地贫胎儿预测,将对减轻孕妇身心负担、减少出生缺陷有重要作用。

α-thalassemia prevails in southeast Asia, where α-thalassemia major is a lethal type. Sonography is a helpful and cost-effective screening tool for detecting α-thalassemia major fetuses. The cardiothoracic ratio, placental thickness, and middle cerebral artery peak systolic velocity are most used in clinical practice. These sensitive markers are helpful for evaluation of the hemodynamic status and cardiovascular function of the affected fetuses. They can predict fetal α-thalassemla major noninvasively before fetal hydrops ; the medical costs as well as the possibility of fetal loss caused by invasive procedures can be reduced. In addition, other ultrasound markers （liver length, heart circumference, spleen circumference, etc） also have some clinical value. In future, in the areas of high incidence, the comprehensive use of ultrasonic index for prediction of α-thalassemia major fetus will be very helpful to reduce the physical and mental burden of the pregnant women, and reduce the birth defects.