多指标联合筛查唐氏综合征的临床探讨  

The clinical investigation of combining Down′s syndrome multiple index

作　　者：雷娟[1,2] 高德红[1,2] 王茜[1,2] 关怀[1,2] 刘继波[1,2] 闫瑞华[1,2] 张玲玲[1,2] 

机构地区：[1]黑龙江省大庆市大庆龙南医院妇产科 [2]齐齐哈尔医学院第五附属医院,163453

出　　处：《中国优生与遗传杂志》2012年第2期52-53,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨孕中期应用联合指标筛查唐氏综合征的临床效果及可靠性。方法孕妇应用二联血清生化指标进行孕中期唐氏综合征筛查,以1/270作为风险截断值,高风险孕妇行产前诊断,低风险孕妇行常规产科检查;对风险率介于1/270～1/700之间的孕妇行胎儿超声鼻骨长度,肱骨和股骨长度测定,对胎儿鼻骨长度,肱骨和股骨发育情况的风险值进行校正,高风险则再行产前诊断,低风险则行常规产科检查。结果 3278例孕妇中,血清筛查高风险孕妇227例,经产前诊断确诊为21-三体3例;有145例风险值在1/270～1/700之间,其中122人做了胎儿超声鼻骨测定,肱骨和股骨长度测定,15例异常,其中发现6例胎儿鼻骨缺失或发育不良,7例FL较同孕龄染色体正常胎儿短2SD以上,10例HL较同孕龄染色体正常胎儿短2SD以上,15例孕妇均进行了羊水染色体分析,确诊2例21-三体,检出率提高了13.3%。随访到2900例孕妇的妊娠结局,未随访到假阴性病例。结论血清筛查和超声鼻骨、肱骨和股骨长度检测联合应用,可以防止筛查假阴性的发生,并且有效提高唐氏综合征的检出率。Objective ： To investgate the clinical effect and reliability of screening Down＇s syndrome by combined index. Methods ： The dual serum markers were used in screening Down＇s syndrome in second trimester. We takes 1/270 as the cut off value of risk, and prenatal diagnosis for the prenaneies in high, gynecological examination for those in low risk. The length of fetal nasal bone, humerus and femur with ultrasound scan were used in the pregnancies whose cutoff value were between 1/270 - 1/700. These cutoff values were rectified. The prenatal diagnosis for the prenancies in high risk, gynecological examination for those in low risk. Results： The pregnancies in high risk were 227 in 3278 eases including 3 eases of trisomy 21 by prenatal diagnosis. The length of fetal nasal bone, hu- merus and femur with ultrasound scan of 122 in 145 cases whose cutoff value were between 1/270 - 1/700. 15 cases were abnormal including 6 cases of nabal bone defect or dysplasia, chromsome of 7 cases of FL and 10 cases of HL were shorter over 2 SD than the normal fetus in the same genetal age. Amniotic fluid chromosome analysis were used in 15 cases and 2 cases of trisomy 21. Detection rate was improved by 13.3%. No false negative cases were found in the 2900 cases in follow up. Conclusion： The use of Serum screening and the length of of fetal nasal hone, humerus and femur with ultrasound scan could prevent false negative results and improve the detection rate of Down＇s syndrome.

关 键 词：唐氏综合征 联合筛查 

分 类 号：R714.5[医药卫生—妇产科学]