建立天津地区孕中期唐氏综合征筛查人群中位数系统的研究  

Medians for Second-Trimester Down Syndrome Screening in Tianjin

作　　者：姚静怡[1,2] 张颖[3] 辛力[2] 崔岚[2] 岳胜[2] 谢晓媛[2] 

机构地区：[1]天津医科大学,300070 [2]天津市妇女儿童保健中心 [3]天津医科大学总医院

出　　处：《天津医药》2012年第5期433-436,共4页Tianjin Medical Journal

摘　　要：目的:建立天津地区孕中期唐氏综合征筛查人群中位数系统并探讨其临床应用价值。方法:采用时间分辨荧光分析法检测113 544例妊娠14~20+6周妊娠女性血清甲胎蛋白(AFP)和游离β人绒毛膜促性腺激素(Freeβ-hCG)的浓度。用唐氏综合征筛查风险评估软件(LC3.0)的Medians Tool统计其中61 881例AFP和Freeβ-hCG的人群中位数、体质量,对LC3.0的中位数方程、体质量校正方程系数进行修正。对另外38 662例妊娠女性AFP和Freeβ-hCG的中位数漂移情况进行监控及调整,建立天津地区孕中期唐氏综合征筛查人群中位数系统。另选取13 001例妊娠女性测定其AFP和Freeβ-hCG激素水平,分别利用高加索人群中位数系统和已建立的人群中位数系统进行孕中期唐氏综合征筛查,通过Medians Tool将13 001例妊娠女性AFP和Freeβ-hCG的中位数、体质量与已建立的中位数曲线、体质量曲线进行拟合,检测其吻合度。结果:13 001例妊娠女性的中位数与已建立的中位数方程是吻合的,AFP和Freeβ-hCG的校正因子分别为1.01、1.00。经染色体核型分析,13 001例妊娠女性中共确诊唐氏综合征9例。以高加索人群中位数系统进行筛查的检出率为77.78%,假阳性率为8.30%,阳性预测值为0.65%。利用已建立的人群中位数系统进行筛查的检出率为77.78%,假阳性率为5.33%,阳性预测值为1.00%。结论:天津地区孕中期人群的AFP和Freeβ-hCG与高加索人群存在差异,利用已建立的中位数系统进行孕中期唐氏综合征筛查,可以有效降低假阳性率,提高筛查效率。Objective： To establish medians for second trimester Down syndrome screening in Tianjin district, and its clinical values thereof. Methods： The serum levels of maternal serum alpha-fetoprotein （AFP） and free human chorionic gonadotropin （Free β-hCG） from 113,544 pregnancies ranged from 14 weeks to 20＋6 weeks were detected using time-resolved fluoroimmunoassay. The Medians Tool of the PE risk assessment software （LC3.0） was used to determine medians vaiue of serum AFP and free β-hCG in 61,881 pregnant women, which was modified by median coefficients, and established the Weight equation. The serum levels of AFP and free β-hCG were adjusted by median shift to establish median value system for sec- ond-trimester Down syndrome screening in 38,662 pregnant women of the Tianjin area. The serum levels of AFP and free β-hCG were measured in other 13,001 pregnant women. The screening results were calculated using the standard algorithm based on the Caucasian median value system and the Tianjin median value system. Patients with an increased risk of Down syndrome pregnancy （≥270） were offered genetic amniocentesis. Results： Medians from 13,001 pregnant women matched the established median formula. The correction factors （Median factor） of AFP and free ^-hCG were 1.01 and 1.00 respectively. The detection rate （DR） of the Tianjin median value system for second-trimester Down syndrome screening was 77.78%, the false positive rate （FDR） was 5.33%, the positive predictive value was 1%, and the DR based on the Caucasian median val- ue system was 77.78%, the FDR was 8.30%, the positive predictive value was 0.65%. Conclusion： Ethnic variance of mater- nal serum levels of AFP and Free β-hCG exists between the Caucasian and Tianjin populations. The accuracy of screening is increased by using race-specific medians.

关 键 词：唐氏综合征 甲胎蛋白类 绒毛膜促性腺激素 妊娠中期 遗传筛查 天津 

分 类 号：R749.94[医药卫生—神经病学与精神病学]