Burton B K, Prins G S, Verp M S
Department of Pediatrics, University of Illinois, Chicago College of Medicine, IL.
Am J Obstet Gynecol. 1993 Sep;169(3):526-30. doi: 10.1016/0002-9378(93)90613-n.
Our purpose was to prospectively evaluate the effectiveness of prenatal screening for Down syndrome by means of multiple serum markers.
alpha-Fetoprotein, human chorionic gonadotropin, and unconjugated estriol were measured in 8233 midtrimester serum samples, including 7492 from women < 35 years old and 741 from women > or = 35 years old. Down syndrome risks were computed by means of age and all three markers. Further testing was recommended for patients with a risk > or = 1:270. Testing for trisomy 18 was recommended for patients with an alpha-fetoprotein < or = 0.70 multiples of the median, human chorionic gonadotropin < or = 0.50 multiples of the median, and unconjugated estriol < or = 0.55 multiples of the median.
Of women screened initially 10.4% had a Down syndrome risk > or = 1:270; 10 of 12 known cases of Down syndrome were identified. One abnormality was detected for every 33 amniocenteses performed in this group. Of 0.4% of patients at increased risk for trisomy 18, two cases of trisomy 18 and one of triploidy were found.
Multiple marker screening is effective in identifying the majority of fetal chromosome anomalies.
我们的目的是前瞻性评估通过多种血清标志物进行唐氏综合征产前筛查的有效性。
检测了8233份孕中期血清样本中的甲胎蛋白、人绒毛膜促性腺激素和非结合雌三醇，其中包括7492份来自年龄小于35岁女性的样本以及741份来自年龄大于或等于35岁女性的样本。通过年龄和所有三种标志物计算唐氏综合征风险。对于风险大于或等于1:270的患者，建议进一步检测。对于甲胎蛋白小于或等于中位数的0.70倍、人绒毛膜促性腺激素小于或等于中位数的0.50倍以及非结合雌三醇小于或等于中位数的0.55倍的患者，建议检测18三体。
在最初接受筛查的女性中，10.4%的唐氏综合征风险大于或等于1:270；在12例已知唐氏综合征病例中，识别出了10例。该组每进行33次羊膜穿刺术检测到1例异常。在18三体风险增加的患者中，0.4%的患者中发现了2例18三体和1例三倍体。
多种标志物筛查可有效识别大多数胎儿染色体异常。
