产前超声检查在胎儿肢体畸形诊断中的应用价值

目的探讨产前超声检查在胎儿肢体畸形诊断中的应用价值。方法采用二维超声连续顺序追踪法（SCSA）检查胎儿肢体，对具备检查条件者辅以三维超声成像。结果27573例孕妇进行了产前超声检查，诊断为胎儿肢体畸形56例；经出生或引产后证实有胎儿肢体畸形者65例。产前超声检查诊断为胎儿肢体畸形与出生或引产后证实相符54例，漏诊11例，误诊2例。产前超声检查诊断胎儿肢体畸形的灵敏度为0.8308，特异度为0.9999，Youden指数为0.8307，阳性预测值为0.9643，阴性预测值为0.9996。结论产前超声检查诊断胎儿肢体畸形有较高的灵敏度、特异度、阳性预测值和阴性预测值，可认为在合适的孕周采用二维超声SCSA是产前检查胎儿肢体畸形的有效方法，三维超声能使部分肢体畸形细节显示更直观。

Prenatal ultrasound examination for diagnosis of fetal limb deformity

Objective To evaluate the application of prenatal ultrasonography in diagnosis of fetal limb deformity. Meth-ods Systematic continuous sequence approach （SCSA） via 2- dimentional （2- D） ultrasonography was performed on 27573 pregnant women and 3- D ultrasonography was also performed in some selective cases. Results Out of 27,573 cases, fetal limb defects were confirmed in 65 cases （0.24%） after birth or forced abortion, of which, 54 cases were diagnosed by prenatal ultra-sonography, 11 cases were missed and 2 cases were misdiagnosed. The sensitivity, specificity, Youden index, positive predic-tion value, negative prediction value of prenatal ultrasonography in screening fetal limb defects were 0.8308, 0.9999, 0.8307, 0.9643, and 0.9996, respectively. Conclusion Prenatal ultrasonography harbors relatively high sensitivity, specificity, positive prediction value and negative prediction value. SCSA screening on appropriate gestation window facilitates the detection of pre-natal limb defects, and 3- D ultrasonography improves the detailed observation of the defects.