Wenstrom K D, Owen J, Chu D c, Boots L
Center for Obstetric Research, Department of Obstetrics and Gynecology, The University of Alabama at Birmingham, USA.
Am J Obstet Gynecol. 1999 Oct;181(4):887-92. doi: 10.1016/s0002-9378(99)70320-0.
Our goal was to prospectively evaluate the use of the free beta-subunit of human chorionic gonadotropin and dimeric inhibin A for the detection of fetal Down syndrome and other aneuploidies.
Women who had a second-trimester multiple-marker screening test (alpha-fetoprotein, unconjugated estriol, human chorionic gonadotropin) and genetic amniocentesis from August 1996 to August 1998 were included. Serum was also analyzed for inhibin and the free beta-subunit of human chorionic gonadotropin. Detection and false-positive rates for 4 analyte combinations at 5 different screening risk cutoff points for Down syndrome were determined and compared.
We evaluated 1256 patients, including 23 with aneuploidy (13 with Down syndrome, 10 others). The maternal age was 35.9 +/- 4.6 years (mean +/- SD). At the optimal risk cutoff point for Down syndrome detection (1:190; false-positive rate, 19%), the multiple-marker screening test plus inhibin was superior, detecting 85% of Down syndrome cases, in comparison with 69% when the multiple-marker screening test alone was used and 62% when the other 2 combinations were used. The multiple-marker screening test plus inhibin also detected 60% of the other aneuploidies.
When evaluated prospectively in a high-risk population, the multiple-marker screening test plus inhibin was superior to the traditional multiple-marker screening test and 2 other analyte combinations, with a lower false-positive rate and increased detection of all aneuploidies in a high-risk population.
我们的目标是前瞻性地评估人绒毛膜促性腺激素游离β亚基和二聚抑制素A用于检测胎儿唐氏综合征及其他非整倍体的情况。
纳入1996年8月至1998年8月期间进行孕中期多标记物筛查试验（甲胎蛋白、未结合雌三醇、人绒毛膜促性腺激素）及遗传羊膜腔穿刺术的妇女。同时对血清进行抑制素和人绒毛膜促性腺激素游离β亚基分析。确定并比较了唐氏综合征5个不同筛查风险切点时4种分析物组合的检测率和假阳性率。
我们评估了1256例患者，其中23例为非整倍体（13例唐氏综合征，10例其他）。产妇年龄为35.9±4.6岁（均值±标准差）。在唐氏综合征检测的最佳风险切点（1:190；假阳性率19%）时，多标记物筛查试验加抑制素表现更优，能检测出85%的唐氏综合征病例，相比之下，单独使用多标记物筛查试验时为69%，使用其他两种组合时为62%。多标记物筛查试验加抑制素还能检测出60%的其他非整倍体。
在高危人群中进行前瞻性评估时，多标记物筛查试验加抑制素优于传统的多标记物筛查试验及其他两种分析物组合，在高危人群中假阳性率更低，对所有非整倍体的检测率更高。
