早孕期颈项透明层厚度结合生化标志物联合筛查检测双胎 21-三体综合征的风险评估

First trimester risk assessment for trisomy 21 in twin pregnancies combining nuchal translucency and first trimester biochemical markers.

机构信息

Fetal Medicine Service, Department of Obstetrics, Gynecology and Reproductive Medicine, Institut Universitari Dexeus, Barcelona, Spain.

出版信息

Prenat Diagn. 2012 Oct;32(10):927-32. doi: 10.1002/pd.3934. Epub 2012 Jul 3.

DOI:10.1002/pd.3934

PMID:22752980

Abstract

OBJECTIVE

The aim is to describe the performance of first-trimester combined risk assessment in twin pregnancies.

METHODS

Maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A (PAPP-A) were determined at 8 to 12 weeks and fetal nuchal translucency (NT) was measured at 11 to 13+6 weeks. The individual risk was estimated for each fetus using the combined test in dichorionic twins. In monochorionic twins, the mean risk assessment of the two fetuses was used. An invasive diagnostic procedure was offered when the risk was ≥ 1 : 270 in either one of the fetuses.

RESULTS

From February 2007 to June 2011, 447 twin pregnancies were enrolled in this study. There were 402 (89.9%) dichorionic and 45 (10.1%) monochorionic twins. In dichorionic twins, mean crown-rump length (CRL) was 63.9 mm; median NT multiples of the median (MoM) was 0.97; median Β-hCG was MoM 1.74; median PAPP-A was 1.72. In monochorionic twins, mean CRL was 61.9 mm; median NT MoM was 0. 98; median Β-hCG MoM was 1.44; and median PAPP-A was 1.51. Two pregnancies with Down syndrome were detected by first trimester screening, both in dichorionic twins. The false positive rate was 5.7% (95% confidence interval 4.1-7.3) and 4.4% (95% confidence interval 0.1-8.8%) in dichorionic and monochorionic twins, respectively.

CONCLUSIONS

The combined test in twins appears to be a good method for Down syndrome screening with a high detection rate and an acceptable false-positive rate.

摘要

目的

描述早孕期联合风险评估在双胎妊娠中的表现。

方法

在 8 至 12 周时测定母体血清游离β-人绒毛膜促性腺激素和妊娠相关血浆蛋白 A（PAPP-A），在 11 至 13+6 周时测量胎儿颈项透明层（NT）。在双胎妊娠中，使用联合检测对每个胎儿进行个体风险估计。在单绒毛膜双胎妊娠中，使用两个胎儿的平均风险评估。当一个胎儿的风险≥1:270 时，提供侵袭性诊断程序。

结果

从 2007 年 2 月至 2011 年 6 月，共有 447 例双胎妊娠纳入本研究。其中 402 例（89.9%）为双绒毛膜双胎，45 例（10.1%）为单绒毛膜双胎。在双绒毛膜双胎妊娠中，平均头臀长（CRL）为 63.9mm；中位数 NT 倍数中位数（MoM）为 0.97；中位数β-hCG MoM 为 1.74；中位数 PAPP-A 为 1.72。在单绒毛膜双胎妊娠中，平均 CRL 为 61.9mm；中位数 NT MoM 为 0.98；中位数β-hCG MoM 为 1.44；中位数 PAPP-A 为 1.51。通过早孕期筛查发现 2 例唐氏综合征妊娠，均为双绒毛膜双胎妊娠。假阳性率分别为 5.7%（95%置信区间 4.1-7.3）和 4.4%（95%置信区间 0.1-8.8%）。