Bian Xu-Ming, Liu Jun-Tao, Qi Qing-Wei, Jiang Yu-Lin, Li Yan, Liu Shan-Ying, Hao Na, Zhou Jing, Lü Shi-Ming, Zhu Bao-Sheng, Wang He, Xu Zheng-Feng, Pan Xiao-Ying, Liao Can, Cai Yan, Wang Hua, Wang Ze, Zhu Jun, Hu Ya-Li
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
Zhonghua Fu Chan Ke Za Zhi. 2008 Nov;43(11):805-9.
To evaluate the performance characteristics of the second trimester double-marker test for the detection of fetal Down's syndrome in mainland China.
This prospective national multi-centered study used alpha-fetoprotein (AFP) and free beta-subunit of human chorionic gonadotrophin (free beta-hCG) as the serum markers. From May 2004 to September 2006, 11 centers participated in the collection and analysis of maternal serum AFP and free beta-hCG between 14 and 20(+6) weeks of pregnancy. The screening results were calculated using the standard algorithm based on the standard database provided with the analytic software. Patients with an increased risk of Down's syndrome pregnancy (> or = 1/270) were offered genetic amniocentesis. Outcomes of all pregnancies were obtained.
A total of 66 132 singleton pregnancies were included in the study. The median maternal age was 27 years. At a cut-off of 1 in 270, the detection rate (DR) based on a Caucasian database was 72% corresponding to a false positive rate (FPR) of 5%, and the DR based on the Chinese database was raised to 76% corresponding to an FPR of 5%.
The double-marker test using AFP and free beta-hCG is an effective screen strategy for second-trimester detection of fetal Down's syndrome in mainland China. Ethnic variance exists between the Caucasian and Chinese populations. The accuracy of screening is increased by the use of race-specific medians.
评估孕中期二联筛查试验在中国内地检测胎儿唐氏综合征的性能特征。
这项前瞻性全国多中心研究采用甲胎蛋白（AFP）和人绒毛膜促性腺激素游离β亚基（游离β-hCG）作为血清标志物。2004年5月至2006年9月，11个中心参与了孕14至20（+6）周孕妇血清AFP和游离β-hCG的收集与分析。筛查结果使用基于分析软件所提供标准数据库的标准算法进行计算。对唐氏综合征妊娠风险增加（≥1/270）的患者提供遗传羊膜腔穿刺术。获取所有妊娠结局。
本研究共纳入66132例单胎妊娠。孕妇年龄中位数为27岁。以1/270为临界值，基于白种人数据库的检测率（DR）为72%，假阳性率（FPR）为5%；基于中国数据库的DR提高到76%，FPR为5%。
使用AFP和游离β-hCG的二联筛查试验是中国内地孕中期检测胎儿唐氏综合征的有效筛查策略。白种人和中国人群之间存在种族差异。使用种族特异性中位数可提高筛查准确性。
