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[核型正常但颈项透明层增厚]

[Increased nuchal translucency with normal karyotype].

作者信息

Nicolaides Kypros H, Wegrzyn Piotr

机构信息

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London, UK.

出版信息

Ginekol Pol. 2005 Aug;76(8):593-601.

Abstract

Increased fetal NT thickness is a common phenotypic expression of trisomy 21 and other chromosomal abnormalities, but it is also associated with fetal death and a wide range of fetal malformations, deformations, dysgenesis, and genetic syndromes. This paper reviews the outcome of chromosomally normal fetuses with increased NT On the basis of these data it is possible to estimate, for each NT group, the chances of intrauterine survival and delivery of a healthy baby with no major abnormalities. These data are useful in counselling parents of pregnancies with increased fetal NT and in planning the appropriate follow-up investigations. In normal fetuses NT thickness increases with fetal crown-rump length (CRL). The median and 95th centile of NT at a CRL of 45 mm are 1.2, and 2.1mm and the respective values at CRL of 84mm are 1.9 and 2.7 mm. The 99th centile does not change significantly with CRL and it is about 3.5 mm. Increased NT, refers to a measurement above the 95th centile and the term is used irrespective of whether the collection of fluid is septated or not and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves but in some cases it evolves into nuchal edema or cystic hygromas.

摘要

胎儿颈部透明带(NT)厚度增加是21三体综合征和其他染色体异常的常见表型表现,但它也与胎儿死亡以及一系列胎儿畸形、变形、发育不全和遗传综合征有关。本文回顾了NT增厚但染色体正常的胎儿的结局。基于这些数据,可以针对每个NT组估计宫内存活以及分娩出无重大异常的健康婴儿的几率。这些数据对于为NT增厚的孕妇提供咨询以及规划适当的后续检查很有用。在正常胎儿中,NT厚度随胎儿头臀长度(CRL)增加。CRL为45mm时,NT的中位数和第95百分位数分别为1.2mm和2.1mm;CRL为84mm时,相应的值分别为1.9mm和2.7mm。第99百分位数随CRL变化不显著,约为3.5mm。NT增厚是指测量值高于第95百分位数,无论积液是否分隔,也无论其局限于颈部还是包裹整个胎儿,均使用该术语。14周后,NT增厚通常会消退,但在某些情况下会发展为颈部水肿或囊性水瘤。

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