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[孕早期唐氏综合征的超声筛查:颈项透明层厚度]

[Ultrasound screening for Down's syndrome early in pregnancy: nuchal translucency thickness].

作者信息

Müller M A, Pajkrt E, Bilardo C M

机构信息

Academisch Medisch Centrum/Universiteit van Amsterdam, afd. Verloskunde en Gynaecologie, Amsterdam.

出版信息

Ned Tijdschr Geneeskd. 2002 Apr 27;146(17):793-8.

Abstract

Screening for Down's syndrome (DS) in the Netherlands is based on maternal age. Women aged 36 years or above are offered amniocentesis or chorionic villus sampling to determine if the foetus has Down's syndrome or other chromosomal abnormalities. Disadvantages of this method are a low detection rate of affected pregnancies (no more than 15%) and iatrogenic miscarriages (0.5-1%). Pregnant women under the age of 36 are not eligible for screening, even though 70% of the children with Down's syndrome are born in this age group. Screening by measuring nuchal translucency thickness, an early ultrasound marker for Down's syndrome carried out in the first trimester of pregnancy, has a higher detection rate with a less invasive method and therefore fewer iatrogenic miscarriages. However, Dutch law prohibits the offer of screening to women with a low individual risk of DS (Population Screening Act), because of the anxiety this may provoke in these women. The Dutch Health Council's Prenatal Screening Committee has advised the minister of Public Health, Welfare and Sport that risk-assessment screening, in particular the triple test, should no longer be postponed and that research into (other) screening options should be stimulated.

摘要

荷兰对唐氏综合征(DS)的筛查基于孕妇年龄。36岁及以上的女性会被提供羊膜穿刺术或绒毛取样,以确定胎儿是否患有唐氏综合征或其他染色体异常。这种方法的缺点是受影响妊娠的检测率低(不超过15%)以及医源性流产(0.5 - 1%)。36岁以下的孕妇无资格接受筛查,尽管70%的唐氏综合征患儿出生在这个年龄组。通过测量颈部半透明厚度进行筛查,这是在妊娠早期进行的一种唐氏综合征早期超声标志物,检测率更高且方法侵入性较小,因此医源性流产较少。然而,荷兰法律禁止向唐氏综合征个体风险低的女性提供筛查(《人群筛查法》),因为这可能会引起这些女性的焦虑。荷兰卫生委员会的产前筛查委员会已建议公共卫生、福利和体育部部长,风险评估筛查,特别是三联试验,不应再推迟,并且应鼓励对(其他)筛查选项进行研究。

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