超声在地中海贫血胎儿产前诊断中的价值

Value of Prenatal Ultrasound in Diagnosis of Thalassemia Fetus

自的观察地中海贫血胎儿的二维超声表现，探讨超声在地中海贫血胎儿产前诊断中的诊断价值。方法选取2009年6月至2013年6月在广西壮族自治区民族医院行胎儿产前超声检查有异常表现患者82例，且基因检查确诊为地中海贫血的孕20～28周胎儿82例为地中海贫血组，选择同时期行孕期常规产前超声检查及地中海贫血基因检查正常的孕20～28周胎儿86例为正常胎儿组，比较两组胎儿超声检测结果，以基因检查为金标准，评价超声检测在地中海贫血高危胎儿产前诊断中的诊断效能。结果地中海贫血组的心脏横径、胸腔横径、心胸比值、脐静脉内径等均显著大于正常胎儿组[（22．30±3．10）mm vs（16．70±3．01）mm，（43．50±5．70）mm vs（35．10±6．30）mm，（0．51±0．02）vs（0．46±0．02），（4．98±0．58）mm vs（3．82±0．64）mm，均P＜0．05]；脐动静脉内径比值显著小于正常胎儿组[（0．52±0．03）vs（0．66±0．06），P〈0．05]。产前超声检查地中海贫血胎儿的灵敏度为74．51％，特异度为90．91％，诊断准确率为80．95％。结论产前超声检查在地中海贫血胎儿的诊断中有较高的应用价值，且检查方法安全、有效，适合在基层医院推广。

Objective To observe the two-dimensional ultrasound imaging performance of fetus of thalassemia, and to investigate the value of two-dimensional ultrasound in the prenatal diagnosis of thalassemia. Methods From Jun. 2009 to Jun. 2013,in Minzu Hospital,a total of 82 cases of fetus at gestation of 20 to 28 weeks with abnormal two-dimensional ultrasound performance and gene tests confirmed thalassemia were included as the thalassemia group, and a total of 86 cases of fetus at gestation of 20 to 28 weeks with normal results in ultrasound performance and thalassemia gene tests during the same period were included as the control group. The clinical diagnosis value of two-dimensional ultrasound in the prenatal diagnosis of thalassemia was assessed with gene test as the gold standard. Results The heart transverse diameter, chest diameter, cardiothoracic ratio, diameter of fetal umbilical vein of the thalassemia group were obviously larger than those of the control group[ （22.30±3.10） mm vs （16.70±3.01） mm, （43.50±5.70） mm vs （35.10±6.30）mm,（0.51±0.02） vs （0.46±0.02）,（4.98±0.58） mmvs （3.82±0.64）mm,all P〈 0.05 ] ; the diameter ratio of fetal umbilical artery/vein of the thalassemia group were significantly lower than that of the control group [ （0.52±0.03 ） vs （0.66±0.06 ）, P 〈 0.05 ]. The sensitivity, specificity and accuracy rate of prenatal ultrasound examination for thalassemia was 74.51% ,90.91% and 80.95%, respectively. Conclusion The prenatal ultrasound examination has high application value in diagnosis of thalassemia, and the inspection method is safe and effective, suitable for primary hospitals.