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孕早期筛查结果令人安心后出现的非整倍体软指标:该如何处理?

Soft markers for aneuploidy following reassuring first trimester screening: what should be done?

作者信息

Stefanovic Vedran

机构信息

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

出版信息

Curr Opin Obstet Gynecol. 2015 Apr;27(2):151-8. doi: 10.1097/GCO.0000000000000157.

Abstract

PURPOSE OF REVIEW

The present article aims to review the current role of the soft markers on the second trimester ultrasound (STUS) in women after reassuring first trimester screening (FTS) in singleton pregnancies.

RECENT FINDINGS

Improvements in the FTS and the recent implementation of noninvasive prenatal testing (NIPT) for common aneuploidies have important impact on the prevalence of these conditions in the STUS. Some studies suggest that soft markers in the second trimester of the fetus without structural anomalies have a minor or no role in Down syndrome detection in a prescreened population with reassuring results. However, NIPT could be offered as a next step in the management of such pregnancies if the calculated new composite risk (NCR) for aneuploidy is increased. In the case of reassuring results, pregnancy follow-up for certain markers is advised.

SUMMARY

NIPT has emerged as a new method of prenatal testing and is feasible in the second trimester in women with increased NCR. However, apart from the Down syndrome screening, STUS screening remains a powerful tool in screening for other fetal aneuploidies, structural anomalies and pathological placental conditions and detection of specific soft markers that require pregnancy follow-up.

摘要

综述目的

本文旨在回顾中期超声检查(STUS)中的软指标在单胎妊娠早期筛查(FTS)结果令人安心的女性中的当前作用。

最新发现

FTS的改进以及近期针对常见非整倍体的无创产前检测(NIPT)的实施,对这些情况在STUS中的患病率产生了重要影响。一些研究表明,在没有结构异常的胎儿中期,软指标在结果令人安心的预筛查人群中对唐氏综合征检测的作用较小或无作用。然而,如果计算出的非整倍体新综合风险(NCR)增加,NIPT可作为此类妊娠管理的下一步措施。在结果令人安心的情况下,建议对某些指标进行孕期随访。

总结

NIPT已成为一种新的产前检测方法,对于NCR升高的女性在孕中期是可行的。然而,除了唐氏综合征筛查外,STUS筛查仍然是筛查其他胎儿非整倍体、结构异常和胎盘病理状况以及检测需要孕期随访的特定软指标的有力工具。

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