中孕期超声筛查胎儿染色体异常软指标的临床价值

目的探讨中孕期超声筛查发现胎儿染色体异常软指标与胎儿染色体异常之间的关系,对超声软指标的临床价值作一评估。方法2004年2月至2006年11月在复旦大学附属妇产科医院产前筛查孕妇8810例,共筛查8883例胎儿(其中73例为双胎),中孕期详细超声筛查有无结构异常及染色体异常软指标,根据孕妇年龄、血清学筛查结果及超声检查综合评定,决定是否行羊膜腔穿刺染色体检查。染色体异常软指标主要包括:颈项软组织增厚、肱骨股骨偏短、轻度肾盂扩张、心室强光点、肠管强回声等。结果8883例胎儿中,发现染色体异常软指标598例,占6.73%。超声软指标诊断21-三体综合征敏感度为69.23%,特异度为93.36%,假阳性率6.74%。结论中孕期超声染色体异常软指标,对于筛查胎儿染色体异常具有重要的临床价值。

The role of the second trimester genetic sonogram

Objective To assess the role of the second trimester genetic sonogram by analyzing relationship between soft markers and fetal aneupoid.Methods A retrospective study of 8883 pregnancies carried out in the Obstetrics and Gynecology Hospital Affiliated to Fudan Universirly from Feb.2004 to Nov.2006.Ultrasound screening was performed at 20 to 24weeks in all pregnancies.The decision for amniocentesis was based on maternal age,maternal serum screening and ultrasound soft markers.Soft markers included in the genetic sonogram were thickened nuchal fold,slightly short humerus,slightly short femur,fetal pyelectasis,echogenic intracardiac focus,echogenic bowel,choroids plexus cyst.Results The results on a total 8 883 pregnancies,including 13 with trisomy 21,demonstrated detection rate of 69.23% for a false-positive of 6.73%.Soft markers were found in 694 fetuses.Conclusion Second-trimester ultrasound soft markers are very important for screening fetal aneuploid.