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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.

PMID:16363364
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。

相似文献

1
[Increased nuchal translucency with normal karyotype].[核型正常但颈项透明层增厚]
Ginekol Pol. 2005 Aug;76(8):593-601.
2
[Fetal nuchal translucency].
Ginekol Pol. 2005 Mar;76(3):179-86.
3
A mixture model of nuchal translucency thickness in screening for chromosomal defects.用于筛查染色体缺陷的颈部半透明厚度混合模型。
Ultrasound Obstet Gynecol. 2008 Apr;31(4):376-83. doi: 10.1002/uog.5299.
4
Changes in nuchal translucency thickness in normal and abnormal karyotype fetuses.正常和异常核型胎儿颈部半透明厚度的变化。
BJOG. 2003 Jun;110(6):584-8.
5
Increased nuchal translucency thickness and normal karyotype: time for parental reassurance.颈部半透明厚度增加但核型正常:是时候让父母放心了。
Ultrasound Obstet Gynecol. 2007 Jul;30(1):11-8. doi: 10.1002/uog.4044.
6
Cystic hygromas, nuchal edema, and nuchal translucency at 11-14 weeks of gestation.妊娠11至14周时的囊状水瘤、颈部水肿和颈部透明带厚度
Obstet Gynecol. 2006 Mar;107(3):678-83. doi: 10.1097/01.AOG.0000201979.23031.32.
7
Relation between increased fetal nuchal translucency thickness and chromosomal defects.胎儿颈部半透明厚度增加与染色体缺陷之间的关系。
Obstet Gynecol. 2006 Jan;107(1):6-10. doi: 10.1097/01.AOG.0000191301.63871.c6.
8
Frontomaxillary facial angle in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks.孕11⁺⁰至13⁺⁶周时,额上颌面部角在21-三体综合征筛查中的应用
Ultrasound Obstet Gynecol. 2008 Jul;32(1):5-11. doi: 10.1002/uog.5334.
9
Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies.未选择的妊娠中孕早期颈项透明层筛查时胎儿鼻骨缺失与非整倍体情况
Prenat Diagn. 2003 Jun;23(6):496-500. doi: 10.1002/pd.628.
10
Fetal nuchal translucency screening in 12495 pregnancies in Sardinia.撒丁岛12495例妊娠中的胎儿颈部透明带筛查。
Ultrasound Obstet Gynecol. 2001 Dec;18(6):649-51. doi: 10.1046/j.0960-7692.2001.00583.x.

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Cochrane Database Syst Rev. 2017 Mar 15;3(3):CD012599. doi: 10.1002/14651858.CD012599.
2
First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.孕早期单独进行超声检查或与孕早期血清检查联合用于唐氏综合征筛查。
Cochrane Database Syst Rev. 2017 Mar 15;3(3):CD012600. doi: 10.1002/14651858.CD012600.
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Ultrasound and echocardiographic findings obtained in the second and third trimesters of gestation in fetuses with normal karyotype and increased nuchal translucency.
在核型正常但颈部半透明厚度增加的胎儿妊娠中期和晚期获得的超声和超声心动图检查结果。
J Ultrason. 2013 Dec;13(55):465-6. doi: 10.15557/JoU.2013.0051. Epub 2013 Dec 30.
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Urine tests for Down's syndrome screening.唐氏综合征筛查的尿液检测。
Cochrane Database Syst Rev. 2015 Dec 10;2015(12):CD011984. doi: 10.1002/14651858.CD011984.
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First trimester serum tests for Down's syndrome screening.孕早期唐氏综合征筛查的血清学检测
Cochrane Database Syst Rev. 2015 Nov 30;2015(11):CD011975. doi: 10.1002/14651858.CD011975.
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Second trimester serum tests for Down's Syndrome screening.孕中期唐氏综合征筛查的血清学检测
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