Brambati B, Tului L, Bonacchi I, Shrimanker K, Suzuki Y, Grudzinskas J G
Istituto Ostetrico e Ginecologico L. Mangiagalli, University of Milan, Italy.
Prenat Diagn. 1994 Nov;14(11):1043-7. doi: 10.1002/pd.1970141106.
Serum measurements of pregnancy-associated plasma protein A (PAPP-A) and the free beta-human chorionic gonadotrophin (hCG) subunit were made in 13 women with Down syndrome (DS) pregnancies and six other women with fetal aneuploidy ascertained at chorionic villus sampling (CVS), as well as 89 women with contemporaneous normal control pregnancies. Median serum PAPP-A measurements (0.31 MOM, 95 per cent confidence interval (CI) 0.22-0.65 vs. normal 1.06, 95 per cent CI 0.89-1.20) were lower and free beta-hCG subunit measurements (1.13 MOM, 95 per cent CI 0.93-2.63 vs. normal 0.91, 95 per cent CI 0.79-1.03) were higher at statistically significant levels. Receiver operator characteristics (ROC) curves showed that the highest sensitivity for detection, 71.2 per cent (95 per cent CI 54.7-87.6 per cent), was for depressed PAPP-A levels; the combination of low serum PAPP-A levels, maternal age, and elevated free beta-hCG levels yielded a detection rate of 78.9 per cent (95 per cent CI 64.9-92.8 per cent) of the affected pregnancies at 8-12 weeks' gestation.
对13例怀有唐氏综合征（DS）胎儿的孕妇、6例在绒毛取样（CVS）时确诊为胎儿非整倍体的其他孕妇以及89例同期正常对照孕妇进行了血清妊娠相关血浆蛋白A（PAPP-A）和游离β-人绒毛膜促性腺激素（hCG）亚基检测。血清PAPP-A测量中位数（0.31倍中位数，95%置信区间（CI）0.22 - 0.65，而正常为1.06，95%CI 0.89 - 1.20）较低，游离β-hCG亚基测量中位数（1.13倍中位数，95%CI 0.93 - 2.63，而正常为0.91，95%CI 0.79 - 1.03）较高，差异具有统计学意义。受试者操作特征（ROC）曲线显示，检测的最高敏感性为71.2%（95%CI 54.7 - 87.6%），是针对PAPP-A水平降低的情况；低血清PAPP-A水平、孕妇年龄和游离β-hCG水平升高相结合，在妊娠8 - 12周时对受影响妊娠的检出率为78.9%（95%CI 64.9 - 92.8%）。
