超声检查中孕期胎儿颈后部皮肤皱褶增厚对筛查21-三体综合征的临床意义  

Clinical significance of ultrasonic detection of fetal nuchal fold thickening in screening trisomy 21 during the second trimester

作　　者：潘玉萍[1] 蔡爱露[1] 乔宠[2] 关洪波[2] 王丽芝[2] 王岳平[3] 赵一理[1] 解丽梅[1] 王晓光[1] 孙微[1] 

机构地区：[1]中国医科大学附属盛京医院超声科,辽宁沈阳110004 [2]中国医科大学附属盛京医院妇产科,辽宁沈阳110004 [3]中国医科大学附属盛京医院遗传室,辽宁沈阳110004

出　　处：《中国医学影像技术》2010年第12期2334-2337,共4页Chinese Journal of Medical Imaging Technology

基　　金：国家科技支撑计划项目(2006BAI05A04)

摘　　要：目的探讨中孕期超声检查发现胎儿颈后部皮肤皱褶(NF)增厚对筛查21-三体综合征的临床意义。方法对有产前诊断指征的孕妇行羊膜腔穿刺术或胎儿脐带血穿刺术,并进行染色体核型分析,计算超声对NF增厚胎儿21-三体综合征的检出率,分析胎儿NF增厚与21-三体综合征的关系。结果接受羊膜腔穿刺术的孕妇中,超声共发现NF增厚胎儿18胎,其中5胎检出21-三体综合征,检出率为27.78%,NF增厚对21-三体综合征的检出率明显高于其他超声异常对21-三体综合征的检出率(P=0.015)。接受胎儿脐带血穿刺术的孕妇中,超声共发现NF增厚胎儿12胎,其中1胎检出21-三体综合征,检出率为8.33%。结论胎儿NF增厚是中孕期筛查21-三体综合征的有效的超声软指标。Objective To investigate the significance of ultrasonic detection of fetal nuchal fold （NF） thickening in screening trisomy 21 during the second trimester. Methods Amniocentesis and cordocentesis were performed in pregnant women with indications of prenatal diagnosis,and the chromosome karyotype analysis was performed. The detection rate of trisomy 21 in fetus with ultrasonic manifestation of NF thickening was calculated. Meanwhile,the relationship between fetal NF thickening and the occurrence of trisomy 21 was observed. Results The chromosome karyotype analysis of the pregnant women who underwent amniocentesis showed that there were 18 fetus with NF thickening. Trisomy 21 was found in 5 fetus among them,the detection rate was 27.78%. The detection rate of trisomy 21 detected hinted by fetal NF thickening was higher than that of other abnormal ultrasonic manifestations （P=0.015）. The chromosome karyotype analysis of the pregnant women who underwent cordocentesis showed that there were 12 fetus with NF thickening,among which 1 of trisomy 21 was detected,the detection rate of trisomy 21 was 8.33%. Conclusion Fetal NF thickening is an effective soft marker of ultrasonography in screening trisomy 21 during the second trimester.

关 键 词：超声检查 产前 胎儿 唐氏综合征 羊膜腔穿刺术 脐带血穿刺术 核型分析 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]