Owen J, Wenstrom K D, Hardin J M, Boots L R, Hsu C C, Cosper P C, DuBard M B
Department of Obstetrics and Gynecology, University of Alabama at Birmingham 35233-7333.
Am J Obstet Gynecol. 1994 Oct;171(4):1041-6. doi: 10.1016/0002-9378(94)90031-0.
Our purpose was to investigate fetal biometry as an adjunct to the multiple-marker screen (maternal age, serum alpha-fetoprotein, estriol, and human chorionic gonadotropin) for Down syndrome.
Fifty-two cases of Down syndrome were compared with 7514 normal fetuses. The measured/predicted femur length ratio had the best discriminant value (1.0 +/- 0.11 vs 0.93 +/- 0.13, p < 0.0001). Multivariate gaussian algorithms were developed and each computed a likelihood ratio for Down syndrome. The trivariate algorithm incorporated the three maternal analytes, whereas the quadrivariate version also included the femur length ratio. The study population included 38 cases of Down syndrome and 1098 euploid controls. The midtrimester risk was the product of the age-related risk and the likelihood ratio.
The relative difference in the femur length ratio between normal and affected fetuses was small in comparison to that of the maternal serum analytes. At a risk cutoff of > or = 1:190 the detection rates were similar and actually favored the trivariate algorithm but differed only by one case of Down syndrome.
The addition of the measured/predicted femur length ratio had a negligible effect on the performance of the multiple-marker screening test.
我们的目的是研究胎儿生物测量作为唐氏综合征多重标志物筛查（孕妇年龄、血清甲胎蛋白、雌三醇和人绒毛膜促性腺激素）的辅助手段。
将52例唐氏综合征病例与7514例正常胎儿进行比较。测量/预测的股骨长度比值具有最佳判别值（1.0±0.11对0.93±0.13，p<0.0001）。开发了多变量高斯算法，每个算法计算唐氏综合征的似然比。三变量算法纳入了三种母体分析物，而四变量版本还包括股骨长度比值。研究人群包括38例唐氏综合征病例和1098例整倍体对照。孕中期风险是年龄相关风险和似然比的乘积。
与母体血清分析物相比，正常胎儿和患病胎儿之间股骨长度比值的相对差异较小。在风险临界值≥1:190时，检测率相似，实际上三变量算法更具优势，但仅相差1例唐氏综合征病例。
增加测量/预测的股骨长度比值对多重标志物筛查试验的性能影响可忽略不计。
