Liu Jun-tao, Hao Na, Sun Nian-hu, Wang Feng-yun, Xu Yun-hua, Gai Ming-ying, Bian Xu-ming, Yang Jian-qiu
Department of Gynecology and Obstetrics, PUMC Hospital, CAMS, PUMC, Beijing 100730, China.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2003 Apr;25(2):156-9.
To investigate the optimal method of screening for Down's syndrome (DS) with maternal serum mankers.
Screening by maternal serum markers for Down's syndrome was offered to all 2886 pregnant women in Peking Union Medical Hospital during 1996.11-2001.3. Alpha-fetoprotein (AFP), human chorionic gonadotrophin (free beta-HCG) were used as markers during the first year of pregnancy. Alpha-fetoprotein, free human chorionic gonadotrophin (HCG) and pregnancy-associated plasma protein A (PAPP-A) were used as mid pregnancy and first-trimester markers in next three years. Amniocentesis and (CVS) were done in those defined as risk cases.
The detection rate of Down's syndrome by maternal serum markers was 3.8% (11/2886). The proportion of false positive results in group of triple markers (alpha FP, free beta-HCG, PAPP-A) was 5%.
The PAPP-A was a good marker to detect Down's syndrome in early pregnancy and may be used to predict the outcome during mid trimester of pregnancy. The AFP and free beta-HCG can be useful markers to detect Down's syndrome and fetal abnormality. While prenatal diagnostics can be shifted to an early pregnant period.
探讨利用孕妇血清标志物筛查唐氏综合征（DS）的最佳方法。
1996年11月至2001年3月期间，北京协和医院对2886名孕妇进行了唐氏综合征孕妇血清标志物筛查。妊娠第一年使用甲胎蛋白（AFP）、人绒毛膜促性腺激素（游离β-HCG）作为标志物。在接下来的三年中，甲胎蛋白、游离人绒毛膜促性腺激素（HCG）和妊娠相关血浆蛋白A（PAPP-A）被用作孕中期和孕早期标志物。对那些被确定为风险病例的孕妇进行了羊膜穿刺术和绒毛取样（CVS）。
孕妇血清标志物检测唐氏综合征的检出率为3.8%（11/2886）。三联标志物（甲胎蛋白、游离β-HCG、PAPP-A）组的假阳性结果比例为5%。
PAPP-A是孕早期检测唐氏综合征的良好标志物，可用于预测孕中期的结局。AFP和游离β-HCG是检测唐氏综合征和胎儿异常的有用标志物。同时，产前诊断可提前至孕早期。
