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目的评估早孕期(11+0~13+6)颈项透明层预测高危孕妇胎儿是否为重型α地中海贫血的价值。方法对早孕期双方α地中海贫血的胎儿进行前瞻性研究。所有孕妇均进行早孕期超声结构筛查及颈项透明层的测量。重型α地中海贫血的诊断是基于DNA分析或胎儿血红蛋白电泳分析。结果在早孕期共282例高危妊娠进行了超声标记物的测量,其中61例最后确诊为重型α地中海贫血。根据ROC曲线,NT最佳临界值为1.5 MOM。NT的敏感性为47.54%,特异性为95.48%。结论在早孕期,NT可以有效的区别重型和非重型α地中海贫血。NT也可认为一种筛查重型α地中海贫血的有效指标。
Objective To evaluate the value of (11 + 0 ~ 13 + 6) cervical transparent layer in the early pregnancy to predict whether fetuses with high-risk pregnancies are severe α-thalassemia. Methods A prospective study of fetuses with both alpha thalassemia in the first trimester of pregnancy was conducted. All pregnant women were ultrasound screening early pregnancy structure and neck transparent layer measurements. Diagnosis of severe alpha thalassemia is based on DNA analysis or fetal hemoglobin electrophoresis. Results A total of 282 high-risk pregnancies during the first trimester were measured with ultrasound markers, of which 61 were finally diagnosed as severe alpha-thalassemia. According to the ROC curve, the best threshold for NT is 1.5 MOM. The sensitivity of NT was 47.54% and the specificity was 95.48%. Conclusion In early pregnancy, NT can effectively distinguish between heavy and non-heavy α-thalassemia. NT may also be considered a valid indicator of screening for alpha-thalassemia major.