中文摘要：

目的探讨孕早期胎儿颈项透明层（NT）厚度超声检查在胎儿肢体局部畸形中的诊断价值。方法将2013年12月至2015年6月在该院就诊并自愿接受NT筛查的孕周为11-13＋6周的孕妇896例分为NT增厚组（76例）和NT正常组（820例）,进行胎儿肢体超声检查和染色体检查。结果 NT超声检查在孕早期胎儿肢体局部畸形检查中的灵敏度为92.3%,特异性为92.8%,假阴性率（漏诊率）为7.7%,假阳性率为7.2%,阳性预测值为15.8%,阴性预测者为99.9%。结论 NT超声检查是提示孕早期胎儿肢体局部畸形的重要指标,NT增厚提示胎儿具有发生染色体异常的可能性。

英文摘要：

Objective To explore the diagnostic value of ultrasonic detection of fetal nuchal translucency（NT）thickness in fetal local limb deformities during early pregnancy. Methods Total 896 pregnant women of 11-13＋6 gestational weeks volun tarily receiving the NT screening in our hospital from December 2013 to June 2015 were divided into the NT thickening group（76 cases） and the normal NT group（820 cases）. The fetal limbs examination and chromosome detection were performed. Results The sensitivity of NT ultrasonography for diagnosing fetal local limb deformities during early pregnancy was 92.3%,specificity was 92.8%,false negative rate（rate of missed diagnosis） was 7.7%,false positive rate was 7.2%,positive predictive value was 15.8%and negative predictive value was 99.9%. Conclusion NT ultrasonography is an important index for prompting fetal local limb deformities during early pregnancy,NT thickening indicates the possibility of fetal chromosome abnormalities.