不同基因型地中海贫血胎儿的大脑中动脉血流特征

Study on the middle cerebral artery peak systolic velocity of thalassemia fetuses with different genotype

目的通过研究不同基因型地中海贫血胎儿的大脑中动脉血流特征表现,评估胎儿大脑中动脉血流峰值速度（MCV-PSV）在预测不同基因型地贫的临床应用价值。方法自11~14周开始,每月一次测量患病胎儿大脑中动脉血流峰值。结果 1重型α地贫MCV-PSV明显增高,与其他基因组相比均有非常显著性差异P〈0.01;2HbH病组MCV-PSV较重型α地贫低,比轻型α地贫及正常组均高。胎儿大脑中动脉血流对胎儿HbH病的预测：以轻度贫血〉1.29 MOM为指标,敏感性为66.67%（8/12）,特异性为94.44%（34/36）。结论 1MCA-PS预测胎儿重型α地贫无创伤,准确性高,敏感性100%,特异性94%,是产前筛查和诊断的有效途径之一;2 MCA-PS预测胎儿HbH病的敏感性为66.7%,特异性为94.4%;3重型β地贫胎儿MCA-PS无显著改变。

Objective By analyzing themiddle cerebral artery peak systolic velocity of thalassemia fetuses with different genotypeto assess the value of using MCS-PSV to screen and diagnose fetal thalassemia. Method There were 69 cases of high risk pregnancies which went to invasive prenatal diagnosis and got final fetal genotype; the blood flow of the middle cerebral artery peak value is measured once a month since 16 week. Amniotic fluid prenatal diagnosis is taken at 18-26 weeks. Those diagnosed by amniotie fluid or cordocentesis as severe thalassemia or HbH disease went to abortion. Results Fetal MCA-PSV with severe athalassemia was significantly higher than other genotype group,the sensitivity is 100 %, specificity is 94%. Fetal MCA-PSV with HbH fetus： using mild anemia as cut off value,the sensitivity was 66. 67% （8/12）, specificity was 94. 44% （34/36）. Conclusions OMCA-PSV prediction of fetal severe alpha thalassemia the sensitivity was 100%, specificity of 98%, it is an effective way to predicting severe thalassemia. （2）The sensitivity of MCA-PS for predicting fetal hemoglobin H disease was 66.7 %, specificity was 94.4 %. It is limited and needs integrated consultation.