摘要
目的探讨孕中期母血清产前筛查系统对唐氏综合征(DS)和18-三体综合征及神经管畸形(NTD)检出的临床应用价值。方法应用时间分辨荧光免疫分析技术(DELFIA)对120 309名孕中期(15～21周)孕妇进行血清标记物甲胎蛋白+游离人绒毛膜促性腺激素(AFP+freeβ-HCG)两联指标检测,筛查结果应用Lifecycle 3.0软件进行出生缺陷风险评估。结果 120 309名孕中期孕妇筛查出高风险孕妇5 022例,阳性率为4.17%;4 494例21-三体综合征和18-三体综合征高风险孕妇中有3 573例接受羊水或脐血穿刺产前诊断,占79.51%,发现胎儿核型异常49例,异常检出率为1.37%,其中DS 22例、18-三体综合征6例、其他异常核型21例。结论孕中期母血清标记物两联指标的产前筛查是预测DS和18-三体综合征、NTD的有效指标。
Objective To investigate the clinical value of second trimester maternal serum screening for Down＇s syndrome（DS）,18-trisomy syndrome,and neural tube defects（NTD）.Methods The serum markers（alpha-fetoprotein and beta human chroionic gonadotrophin） were detected in 120 309 pregnant women at second trimester（15-21 weeks） with time-resolved fluorescence immunoassay（DELFIA）.The detection data were analyzed with Lifecycle 3.0 software.Results There were 5 022 pregnant women identified as at high-risk,with a positive rate of 4.17%.Amniotic fluid or umbilical cord blood puncture was conducted among 79.51% of the women with high risk of DS and 18-trisomy syndrome（3 573/4 494）.There were 49（1.37%） cases of abnormal fetal karyotype,22 cases of DS,6 cases of 18-trisomy syndrome,and 21 cases of other abnormal karyotype.In high-risk pregnant women who were younger or older than 35 years,the abnormal karyotype detection rate was 1.37%.Conclusion Second trimester maternal serum markers（AFP and β-HCG） detection is efficient in prenatal screening for DS,18-trisomy syndrome,and NTD.
出处
《中国公共卫生》
CAS
CSCD
北大核心
2013年第1期120-121,共2页
Chinese Journal of Public Health
