Lemay C, Roussel-Mizon N, Thepot F, Desmet G
Laboratoire d'Hormonologie, Hôpital Sud, Amiens, France.
Clin Chim Acta. 1995 Jul 14;238(2):151-62. doi: 10.1016/0009-8981(95)06084-q.
A retrospective study of the different biochemical markers used in screening for Down's syndrome was carried out on serum from 18,600 women between their 15th and 18th week of pregnancy. Thirty-two sera were from women with fetal Down's syndrome. The retrospective study of these 32 sera involves: (a) the screening of the maternal serum concentrations of human chorionic gonadotropin (hCG) and of alpha-fetoprotein (AFP); (b) the evaluation of the risk of Down's syndrome when screening maternal serum concentrations of hCG alone, then the combination of the two markers and finally the maternal serum concentrations of unconjugated estriol (uE3). The mean of MOM (multiples of the median) for the pathological sera were calculated for hCG (1.91), for AFP (0.63), for the ratio hCG over AFP (3.02) and for uE3 (0.72). With the use of hCG alone we estimated a 41% detection rate for an amniocentesis rate of 5.3%, whereas when hCG was combined with AFP the detection rate approached 65% for an amniocentesis rate of 5.5% at a risk cut-off of 1:300. The results of the uE3 determination confirm the validity of this marker. The comparison of these results with other retrospective studies shows the incidence of different factors in the detection rate such as the choice of markers, the age group studied, the modes of calculating the risk and the actual cut-off chosen.
对18600名怀孕15至18周女性的血清进行了一项回顾性研究，以筛查用于唐氏综合征筛查的不同生化标志物。32份血清来自患有胎儿唐氏综合征的女性。对这32份血清的回顾性研究包括：（a）筛查母体血清中人绒毛膜促性腺激素（hCG）和甲胎蛋白（AFP）的浓度；（b）单独筛查母体血清hCG浓度时评估唐氏综合征的风险，然后是两种标志物的组合，最后是未结合雌三醇（uE3）的母体血清浓度。计算了病理性血清中hCG（1.91）、AFP（0.63）、hCG与AFP的比值（3.02）和uE3（0.72）的MOM（中位数倍数）平均值。单独使用hCG时，在羊水穿刺率为5.3%的情况下，我们估计检测率为41%，而当hCG与AFP联合使用时，在风险截断值为1:300、羊水穿刺率为5.5%的情况下，检测率接近65%。uE3测定结果证实了该标志物的有效性。将这些结果与其他回顾性研究进行比较，显示了检测率中不同因素的发生率，如标志物的选择、所研究的年龄组、风险计算模式和实际选择的截断值。
