芬兰北部单胎妊娠孕早期唐氏综合征的临床常规筛查

Clinical first-trimester routine screening for Down syndrome in singleton pregnancies in northern Finland.

作者信息

Valinen Yrtti, Rapakko Katrin, Kokkonen Hannaleena, Laitinen Paivi, Tekay Aydin, Ahola Tarja, Ryynanen Markku

机构信息

Department of Obstetrics and Gynecology, Department of Oulu University Hospital, Finland.

出版信息

Am J Obstet Gynecol. 2007 Mar;196(3):278.e1-5. doi: 10.1016/j.ajog.2006.11.040.

DOI:10.1016/j.ajog.2006.11.040

PMID:17346554

Abstract

OBJECTIVE

The purpose of this study was to compare the efficacy of both separate and combined maternal serum testing and fetal nuchal translucency measurement in the first trimester screening for Down syndrome in northern Finland.

STUDY DESIGN

The following screening tests were evaluated: measurement of nuchal translucency (NT) alone; serum screening (pregnancy-associated plasma protein A [PAPP-A] and free beta subunit of human chorionic gonadotropin [beta-hCG]) alone; and combined screening (NT plus PAPP-A and free beta-hCG).

RESULTS

The participants comprised 7534 pregnant women during the 10+0-12+6 weeks of pregnancy. All 7534 women participated in serum screening, and 4765 women participated in combined screening. In the serum screening-alone group, there were 30 cases of trisomy 21, of which 23 (76%) were detected. In the combined-screening group, there were 24 cases of trisomy 21 and 21 (87.5%) were detected. In the combined-screening group NT alone detected 15 cases of Down syndrome (62%).

CONCLUSION

Combined screening is the method of choice for Down syndrome screening.

摘要

目的

本研究旨在比较芬兰北部孕早期唐氏综合征筛查中单独进行母血清检测、单独测量胎儿颈部透明带以及两者联合检测的效果。

研究设计

评估了以下筛查试验：单独测量颈部透明带（NT）；单独进行血清筛查（妊娠相关血浆蛋白A [PAPP-A]和人绒毛膜促性腺激素游离β亚基[β-hCG]）；联合筛查（NT加上PAPP-A和游离β-hCG）。

结果

研究对象为7534名孕周在10+0至12+6周的孕妇。所有7534名妇女均参与了血清筛查，4765名妇女参与了联合筛查。在单独血清筛查组中，有30例21三体综合征病例，其中23例（76%）被检测出。在联合筛查组中，有24例21三体综合征病例，21例（87.5%）被检测出。在联合筛查组中，仅NT检测出15例唐氏综合征（62%）。