胎儿颈项透明层厚度在早孕期筛查胎儿畸形的研究进展

孕11-13＋6周胎儿颈项透明层（NT）厚度已经成为早孕期筛查唐氏综合征的重要指标。NT增厚除了与染色体病密切相关外,还与先天性心脏病、胎儿畸形、贫血、感染等因素相关。但是,仍有相当一部分NT增厚的胎儿,出生后是完全正常的。因此,如何对胎儿NT增厚的孕妇进行产前诊断？如何对NT增厚但染色体核型正常的产前病例进行产科处理？NT一旦增厚是否不需要进行唐氏筛查而直接进行产前诊断？这些问题都是目前临床亟待解决的主要问题[1]。本文对国内外相关的文献进行综述,旨在从NT增厚的原因、病理基础、产科处理及妊娠结局等多个角度对NT增厚的产前咨询策略作一探讨,以期为NT测量的临床应用提供科学的理论依据。

In 11-13＋6 weeks,fetal nuchal translucency（NT） thickness has become an important index of down＇s syndrome of early pregnancy screening.NT thickening is related to chromosomal syndromes closely,still to congenital heart disease,fetal abnormalities,anemia,infection factors.However,there are still quite part of the fetus of NT thickening,who is completely normal after birth.Therefore,how to make prenatal diagnosis to the pregnant women of fetal NT thickening？ How to provide obstetric process for patients of NT thickening with normal karyotype？ whether need not to undertake down screening and may directly make prenatal diagnosis？ These questions are currently urgent to be solved in clinic.This paper summarized the domestic and foreign relevant literature,in many aspects of NT thickening,such as reasons,pathologic basis,obstetrics processing and the pregnancy outcome,explored prenatal counseling strategies,in order to provide scientific theory for the clinical application of NT measurement.