【摘要】 【目的】探讨妊娠相关血浆蛋白A(PAPP-A)在妊娠中。晚期筛查染色体病胎儿的价值。【方法】 检测3 140例单胎妊娠13周～36周孕妇血清PAPP-A水平,其中508例孕妇于孕期取羊水或脐带血检测胎儿染色体核型。应用Mann-Whitney U检验。ROC分析等对孕妇妊娠中。晚期的血清PAPP-A水平与非整倍体胎儿的关系进行分析。【结果】 ① 正常妊娠中。晚期各孕周的孕妇血清PAPP浓度随孕周的增长而上升。② 3 140例胎儿中共发现非整倍体15例, 60%(9/15)病例的母体血清PAPP-A水平< 0.40 MoM(正常中位数的倍数)。正常组母体血清PAPP-A水平的中位数为1.01 MoM(正常中位数的倍数),非整倍体组母体血清PAPP-A水平的中位数为0.29 MoM(Z=-4.434, P=0.000)。③ 15例非整倍体胎儿中9例在妊娠中期进行PAPP-A筛查,6例在妊娠晚期进行筛查。以PAPP-A < 0.40 MoM为诊断界点,妊娠中期的筛查灵敏度为55.56%,假阳性率为5.24 %,特异性为94.76%; 妊娠晚期的筛查灵敏度为66.67%,假阳性率为6.38 %,特异性为93.62%。【结论】 母体血清PAPP-A在妊娠中。晚期亦可以作为产前筛查非整倍体胎儿的检测指标。对错过妊娠早期筛查的孕妇,PAPP-A的应用仍可起到亡羊补牢的作用。更多还原

【Abstract】 Objective To study the value of maternal serum pregnancy associated plasma pro-tein A (PAPP-A) in the second and third trimester in screening for fetal aneuploidy. Methods A total of 3 140 singleton pregnant women aged 18 to 51 (mean 29) between 13 weeks 1 day and 36 weeks 6 days of gestation were offered for screening of chromosomal abnormalities with serum PAPP-A. 508 women underwent an invasive diagnostic procedure including amniocentesis and cordocente-sis for antenatal detection of abnormal fetal karyotype. Mann-Whitney U test and receiver operating char-acteristic curve analysis were used for statistical analysis. Results ① The maternal serum PAPP-A level in the unaffected pregnancies increased with gestational age. ② Of 3 140 fetuses , 15 cases had abnormal karyotypes (aneuploidy). The maternal serum PAPP-A level in the 60% (9/15) of affect-ed pregnancies was less than 0.40 multiples of the normal median (MoM). The median value of mater-nal PAPP-A level in unaffected pregnancies was 1.01 MoM. The median of maternal PAPP-A level in 15 affected pregnancies was 0.29 MoM (Z=-4.434, P< 0.000). ③ 9 of 15 aneuploidy fetuses were screened in the second trimester while the others were screened in the third trimester. With the cut-off point of 0.40 MoM, maternal serum PAPP-A screening for anneuploidy would obtain a sensitivi-ty of 55.56% and specificity of 94.76% with a false positive rate of 5.24% in the second trimester. But it would obtain a sensitivity of 66.67% and specificity of 93.62% with a false positive rate of 6.38% in the third trimester. Conclusion The maternal serum PAPP-A level is an effective predic-tor of aneuploidy in the second and third trimester.更多还原