Muller Françoise, Dreux Sophie, Oury Jean-François, Luton Dominique, Uzan Serge, Uzan Michèle, Levardon Michel, Dommergues Marc
Service de Biochimie, Hôpital Ambroise Paré, Boulogne, France.
Prenat Diagn. 2002 Nov;22(11):1001-4. doi: 10.1002/pd.451.
Women having access to prenatal care late in pregnancy may still wish to benefit from maternal serum screening for Down syndrome. Therefore, we established reference values for alpha-feto protein (AFP) and free beta-human chorionic gonadotrophin (beta-hCG), and assessed the diagnostic value of maternal serum marker screening at 18-35 weeks' gestation based upon a series of 4072 sera from unaffected pregnancies and 118 sera from pregnant women with fetuses affected by Down syndrome. Using a 1/250 risk cut-off, a detection rate of 72.9% (95% CI = 71.5-74.3%) was achieved with a false-positive rate of 7.51% (95% CI = 6.71-8.3%). This was not significantly different from the percentages observed in our 14-17 weeks routine screening (50 596 patients): 71.9% (95% CI = 71.5-72.3%) and 6.48% (95% CI = 6.28-6.68%), respectively. Detection and screen-positive rates were, respectively, 51.3% (95% CI = 35.6-67.0%) and 5.95% (95% CI = 5.12-6.68%) in women aunder 35 years of age, and 84.8% (95% CI = 76.9-92.7%) and 24% (95% CI = 20.7-27.3%) in women aged 35 years and over. In conclusion, maternal serum marker screening is feasible at 18 weeks' gestation and later, which may be of interest in selected cases.
怀孕后期才开始接受产前护理的女性可能仍希望通过母体血清筛查唐氏综合征来获益。因此，我们建立了甲胎蛋白（AFP）和游离β-人绒毛膜促性腺激素（β-hCG）的参考值，并基于4072份未受影响妊娠的血清样本以及118份怀有唐氏综合征胎儿的孕妇血清样本，评估了妊娠18至35周时母体血清标志物筛查的诊断价值。采用1/250的风险截断值，检测率达到72.9%（95%置信区间=71.5 - 74.3%），假阳性率为7.51%（95%置信区间=6.71 - 8.3%）。这与我们在14至17周常规筛查（50596例患者）中观察到的百分比没有显著差异，分别为71.9%（95%置信区间=71.5 - 72.3%）和6.48%（95%置信区间=6.28 - 6.68%）。35岁及以下女性的检测率和筛查阳性率分别为51.3%（95%置信区间=35.6 - 67.0%）和5.95%（95%置信区间=5.12 - 6.68%），35岁及以上女性分别为84.8%（95%置信区间=76.9 - 92.7%）和24%（95%置信区间=20.7 - 27.3%）。总之，妊娠18周及以后进行母体血清标志物筛查是可行的，这在某些特定情况下可能具有意义。
