孕中期早期胎儿颈部透明带厚度：作为唐氏综合征标志物的有效性。

Early midtrimester fetal nuchal thickness: effectiveness as a marker of Down syndrome.

作者信息

Borrell A, Costa D, Martinez J M, Delgado R D, Casals E, Ojuel J, Fortuny A

机构信息

Department of Obstetrics and Gynecology, Hospital Clinic, University of Barcelona Medical School, Spain.

出版信息

Am J Obstet Gynecol. 1996 Jul;175(1):45-9. doi: 10.1016/s0002-9378(96)70249-1.

DOI:10.1016/s0002-9378(96)70249-1

PMID:8694074

Abstract

OBJECTIVE

Our purpose was to assess the validity of nuchal thickness in the prediction of Down syndrome in early midtrimester fetuses.

STUDY DESIGN

In 1543 consecutive pregnancies undergoing amniocentesis, primarily for advanced maternal age, nuchal thickness was prospectively measured between 13 and 18 weeks and then correlated with the karyotype obtained from amniotic fluid.

RESULTS

With the cutoff value suggested in the literature (> or = 6 mm), 33.3% (6/18) of the cases of Down syndrome would be detected for a 0.1% (2/1424) false-positive rate, with a positive predictive value adjusted to a prevalence of Down syndrome in the general population of 1:3. To increase the sensitivity of the method, the threshold was lowered to 5 mm, achieving a sensitivity of 77.8% (14/18) for a 2.1% (30/1424) false-positive rate and an adjusted positive value of 1:19.

CONCLUSIONS

In early midtrimester fetuses decreasing the nuchal thickness threshold to 5 mm substantially enhances the detection of Down syndrome with a reasonable false-positive rate.

摘要

目的

我们的目的是评估孕中期早期胎儿颈部厚度在预测唐氏综合征方面的有效性。

研究设计

在1543例连续接受羊膜穿刺术的孕妇中，主要是因为孕妇年龄较大，前瞻性地测量了孕13至18周之间的颈部厚度，然后将其与从羊水获得的核型进行关联。

结果

采用文献中建议的临界值（≥6mm），对于0.1%（2/1424）的假阳性率，可检测出33.3%（6/18）的唐氏综合征病例，将阳性预测值调整为一般人群中唐氏综合征患病率为1:3。为提高该方法的敏感性，将阈值降低至5mm，对于2.1%（30/1424）的假阳性率，敏感性达到77.8%（14/18），调整后的阳性值为1:19。