杭州市余杭区44410例孕中期产前筛查回顾性研究

Retrospective analysis on antenatal screening results of 44 410 cases in the second trimester in Yuhang District of Hangzhou

目的了解杭州市余杭区孕中期产前筛查工作运行情况,探讨孕中期血清标志物的筛查对发现胎儿染色体异常和神经管畸形的意义。方法采用时间分辨荧光法(DELFIA)检测2006—2011年杭州市余杭区5所医院内知情同意并自愿参加的孕妇血清甲胎蛋白(Alpha-fetoproprotein,AFP)和游离β-人绒毛膜促性腺激素(Freeβhuman chorionic gonadotropin,Free-β-h CG)浓度,利用Risks 2T计算机分析软件对唐氏综合征(DS)、爱德华综合征(ES)和神经管缺陷(NTD)的风险度进行评估,对唐氏综合征、爱德华综合征高风险孕妇行羊水穿刺或脐血穿刺做染色体核型分析,对神经管缺陷高风险孕妇进行3D彩色多普勒超声检查。结果产前筛查率逐年上升;产前诊断绝对数逐年递增,羊水穿刺和脐带血穿刺人数的比例逐年下降,产前诊断率下降;在44 410例孕中期妇女中筛查出高风险1 945例,总阳性率4.38%(1 945/44 410),确诊21-三体综合征10例,18-三体综合征6例,神经管畸形(NTD)13例,其他胎儿异常39例。低风险孕妇中有4例21-三体综合征和9例NTD,未检出18-三体综合征。结论血清学产前筛查工作取得进展,免费产前筛查是提高产前筛查率的有效措施;孕中期推广应用二联产前筛查结合产前诊断是降低出生缺陷儿的有效途径。

Objective To study the second trimester prenatal screening operation in Yuhang district of Hangzhou,and to evaluate the significance of using trimester serum mark of screening for finding chromosomal abnormalities and neural tube defects. Methods A total of 44 410 cases were collected during 2006 to 2011 from five hospitals in Yuhang,informed consent and voluntary to participate. Time- resolved fluorescence method（ DELFIA） was used to measure concentration ofα-fetoprotein（ AFP） and Free β human chorionic gonadotropin（ free-β-h CG） of cases＇ serum. Risk 2T computer software was used to evaluate the risk of Down syndrome（ DS）,Edward syndrome（ ES） and neural tube defects（ NTD）. Karyotype analysis was done after amniocentesis or umbilical cord blood puncture to high risk of DS,ES cases. 3D color Doppler ultrasound was used to detect the low risk of NTD cases. Results The rate of prenatal screening and the absolute number of prenatal diagnosis increased year by year,while the proportion of amniocentesis and umbilical cord blood puncture and the diagnosis rate decreased. 1 945 cases of 44 410 cases had high risk,and the total positive rate was 4. 38%. Total 10 cases of DS,6 cases of 18-trisomy,13 cases of NTD and 39 cases of other abnormalities of fetus were diagnosed from high risky pregnant women; 4 cases of DS and 9 cases of NTD were diagnosed from low risky pregnant women. Conclusion Free prenatal screening is an effective means to improve the prenatal screening rate; the application of trimester Down＇s syndrome screening combined with prenatal diagnoses is an effective way to reduce birth defects.