Macintosh M C, Iles R, Teisner B, Sharma K, Chard T, Grudzinskas J G, Ward R H, Muller F
Department of Obstetrics and Gynaecology, St. Bartholomew's Hospital Medical College, London, U.K.
Prenat Diagn. 1994 Mar;14(3):203-8. doi: 10.1002/pd.1970140311.
Maternal serum levels of human chorionic gonadotrophin and its subunits (intact, alpha, and free beta h CG) and pregnancy-associated plasma protein A (PAPP-A) were measured in 279 women between 8 and 14 weeks' gestation. This group included 23 pregnancies in which the fetus had Down syndrome (DS), diagnosed either at birth or during the second trimester (n = 17) or from chorionic villus sampling (CVS) (n = 6). Normal medians were determined from the 258 apparently normal pregnancies. The median levels of intact hCG (1.4 MOM) and free beta hCG (2.1 MOM) were significantly raised, whereas the median level of PAPP-A (0.39 MOM) was significantly lower in the DS pregnancies when compared with the control group. Levels of alpha hCG were similar in both the control and the DS pregnancies. Analysis of samples taken prior to 14 weeks' gestation demonstrated that only PAPP-A (0.34 MOM) was significantly altered in DS pregnancies. However, after the exclusion of DS cases diagnosed at CVS, the median intact hCG (1.56 MOM), free beta hCG (2.27 MOM), and alpha hCG (1.8 MOM) were all raised in DS pregnancies. This emphasizes the problem of the interpretation of biochemical markers when DS cases are diagnosed at CVS.
对279名妊娠8至14周的女性测定了母体血清中的人绒毛膜促性腺激素及其亚基（完整、α和游离β-hCG）以及妊娠相关血浆蛋白A（PAPP-A）。该组包括23例胎儿患有唐氏综合征（DS）的妊娠，这些妊娠在出生时或孕中期（n = 17）或通过绒毛取样（CVS）（n = 6）被诊断出来。正常中位数是根据258例明显正常的妊娠确定的。与对照组相比，DS妊娠中完整hCG的中位数水平（1.4倍中位数倍数）和游离β-hCG的中位数水平（2.1倍中位数倍数）显著升高，而PAPP-A的中位数水平（0.39倍中位数倍数）显著降低。α-hCG在对照组和DS妊娠中的水平相似。对妊娠14周前采集的样本进行分析表明，DS妊娠中只有PAPP-A（0.34倍中位数倍数）有显著变化。然而，在排除通过CVS诊断的DS病例后，DS妊娠中完整hCG的中位数（1.56倍中位数倍数）、游离β-hCG的中位数（2.27倍中位数倍数）和α-hCG的中位数（1.8倍中位数倍数）均升高。这强调了在通过CVS诊断DS病例时生化标志物解释的问题。
