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目的探讨经腹和经阴道彩超联合技术对12~20周重型α-地中海贫血胎儿早期产前诊断的研究。方法利用经腹和经阴道彩超声联合技术对孕12~20周的200例重型α-地中海贫血胎儿进行检查,并利用gap2PCR分子技术进行基因分析,并与同期胎儿的正常组进行对照。结果 20例出现胎儿腹水;12例出现心脏增大,心胸比>0.32,5例出现颈部透明层增厚,20例肠管回声增强;胎盘厚度均较同孕周正常对照组平均值高。结论经腹和经阴道彩超联合技术对12~22周重型α-地中海贫血胎儿能较早期有效检出异常胎儿,对早期诊断重型α-地中海贫血胎儿超声是一种安全、准确、有效的首先方法。
Objective To study the early prenatal diagnosis of fetuses with severe α-thalassemia major from 12 to 20 weeks by transabdominal and transvaginal color Doppler ultrasonography. Methods 200 cases of severe α-thalassemia fetus from 12 to 20 weeks pregnant were examined by transabdominal and transvaginal color Doppler echocardiography. The gene expression was analyzed by gap2 PCR and compared with the normal fetus in the same period. Results Fetal ascites occurred in 20 cases. Heart enlargement was observed in 12 cases. Heart rate was higher than 0.32 in 5 cases. Neck transparent layer thickening was found in 5 cases. Intestinal echo was enhanced in 20 cases. Placental thickness was higher than that in normal control group. Conclusion Transabdominal and transvaginal color Doppler ultrasonography can effectively detect abnormal fetuses in 12-to 22-week-old fetuses with α-thalassemia major, and it is a safe, accurate and effective method for the early diagnosis of fetal ultrasound in severe α-thalassemia. .