Bahado-Singh R, Oz U, Shahabi S, Omrani A, Mahoney M, Cole L
Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut, USA.
Obstet Gynecol. 2000 Jun;95(6 Pt 1):889-94.
To evaluate measurement of levels of urine hyperglycosylated hCG, a form of hCG with abnormally branched oligosaccharide side chains, in conjunction with ultrasound biometry for Down syndrome risk prediction in an at-risk group.
We prospectively measured urine hyperglycosylated hCG levels, humeral length, and nuchal thickness in women who had second-trimester amniocentesis. Urine hyperglycosylated hCG levels were measured by a two-step enzyme-immunometric assay using monoclonal antibody beta152. Humeral length, nuchal thickness, and hyperglycosylated hCG values were expressed as multiples of the median, and the Down syndrome screening efficiency of the three analytes plus age was determined. A receiver operating characteristic (ROC) curve was generated, and the area under the curve was used to assess the Down syndrome screening performance of the algorithm.
There were 23 cases of Down syndrome among 1016 singleton pregnancies. Mean gestational age (+/- standard deviation) was 16.1 +/- 1.2 weeks at the time of amniocentesis. Mean maternal age was 37.1 +/- 3.2 years. Biometry and measurement of hyperglycosylated hCG levels had a 91.3% detection rate at a 3.2% false-positive rate and a 100% detection rate at a 10.7% false-positive rate. The area under the ROC curve was 0.986 (P <.001), and that for measurement of hyperglycosylated hCG levels plus age was 0.941 (P <.001). The area under the curve was significantly larger with combined biochemical and biometry markers compared with measurement of hyperglycosylated hCG levels plus age alone (P <.02), proving that the former was superior to the latter.
A new Down syndrome biochemical marker combined with ultrasound biometry had a high screening efficiency in a high-risk group. All cases of Down syndrome in this study population would have been detected at an amniocentesis rate of less than 10.7%. Our results appear superior to those found with other second-trimester algorithms. The combination is promising as an alternative to "automatic" genetic amniocentesis in women of advanced maternal age and other high-risk groups.
评估尿高糖基化人绒毛膜促性腺激素（一种具有异常分支寡糖侧链形式的人绒毛膜促性腺激素）水平的测定，并结合超声生物测量法，用于高危人群唐氏综合征风险预测。
我们前瞻性地测量了接受孕中期羊膜穿刺术的女性的尿高糖基化人绒毛膜促性腺激素水平、肱骨长度和颈部厚度。尿高糖基化人绒毛膜促性腺激素水平采用使用单克隆抗体β152的两步酶免疫测定法进行测量。肱骨长度、颈部厚度和高糖基化人绒毛膜促性腺激素值以中位数倍数表示，并确定三种分析物加年龄的唐氏综合征筛查效率。生成了受试者操作特征（ROC）曲线，并使用曲线下面积评估该算法的唐氏综合征筛查性能。
1016例单胎妊娠中有23例唐氏综合征病例。羊膜穿刺术时的平均孕周（±标准差）为16.1±1.2周。平均产妇年龄为37.1±3.2岁。生物测量法和高糖基化人绒毛膜促性腺激素水平测量在假阳性率为3.2%时的检测率为91.3%，在假阳性率为10.7%时的检测率为100%。ROC曲线下面积为0.986（P<.001），高糖基化人绒毛膜促性腺激素水平加年龄测量的曲线下面积为0.941（P<.001）。与单独测量高糖基化人绒毛膜促性腺激素水平加年龄相比，联合生化和生物测量标记物的曲线下面积显著更大（P<.02），证明前者优于后者。
一种新的唐氏综合征生化标记物联合超声生物测量法在高危人群中具有较高的筛查效率。本研究人群中的所有唐氏综合征病例在羊膜穿刺术率低于10.7%时均可被检测到。我们的结果似乎优于其他孕中期算法的结果。这种联合方法有望成为高龄产妇和其他高危人群中“自动”遗传羊膜穿刺术的替代方法。
