Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers

D. Wellesley , C. De Vigan , N. Baena , E. Cariati , C. Stoll , P.A. Boyd , M. Clementi , Euroscan Group
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引用次数: 9

Abstract

The objective of this study was to evaluate the contribution of ultrasound scanning to the prenatal detection of trisomy 21 in a large unselected European population. Data from 19 congenital malformation registers in 11 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient. Routine serum screening was offered in four of the 11 countries and routine screening on the basis of maternal age amniocentesis in all. The results show that overall 53% of cases of trisomy 21 were detected prenatally with a range from 3% in Lithuania to 88% in Paris. Ninety-eight percent of women whose babies were diagnosed before 24 weeks gestation chose to terminate the pregnancy. Centres/countries that offer serum screening do not have a significantly higher detection rate of trisomy 21 when compared to those that offer maternal age amniocentesis and anomaly scanning only. Fifty percent of trisomy 21 cases were born to women aged 35 years or more. In conclusions, second trimester ultrasound plays an important role in the prenatal diagnosis of trisomy 21. Of those cases prenatally diagnosed, 64% of cases in women <35 years and 36% of those in women ≥35 years were detected because of an ultrasound finding. Ultrasound soft markers accounted for 84% of the scan diagnoses. There is evidence of increasing maternal age across Europe with 50% of cases of trisomy 21 born to women aged 35 years or more.

超声检查对产前检测21三体的贡献:来自19个欧洲登记的经验
本研究的目的是评估超声扫描在大量未选择的欧洲人群中产前检测21三体的贡献。数据来自11个欧洲国家的19个先天性畸形登记处。各国的产前超声筛查项目从没有常规筛查到每位患者进行三次超声检查不等。11个国家中有4个提供了常规血清筛查,所有国家都提供了基于产妇年龄的羊膜穿刺术常规筛查。结果显示,总体而言,53%的21三体病例是在产前检测到的,从立陶宛的3%到巴黎的88%不等。在怀孕24周之前被诊断出婴儿的妇女中,98%的人选择终止妊娠。提供血清筛查的中心/国家与仅提供产妇年龄羊膜穿刺术和异常扫描的中心/国家相比,21三体的检出率并没有显著提高。50%的21三体病例的母亲年龄在35岁或以上。综上所述,妊娠中期超声在21三体的产前诊断中具有重要作用。在这些产前诊断的病例中,64%的35岁以上妇女病例和36%的35岁以上妇女病例是通过超声检查发现的。超声软标记物占扫描诊断的84%。有证据表明,在整个欧洲,产妇年龄越来越大,50%的21三体病例的母亲年龄在35岁或以上。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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