Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome
Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome
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DOI：
10.1111/j.1471-0528.2008.01700.x
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发表时间：
2008-05-01
影响因子：
5.8
通讯作者：
Dolk, H.
中科院分区：
文献类型：
--
作者：
Boyd, P. A.;DeVigan, C.;Dolk, H.
目的了解欧洲产前筛查的现状（2004年）。设计（i）国家政策调查和（ii）欧洲产前筛查组织数据分析（欧洲先天性异常监测）基于人口的先天性异常登记。设置欧洲。人口调查产前筛查政策在18个国家和113万出生在12个国家在2002- 04。方法（i）2004年关于国家筛查政策和胎儿异常终止妊娠法的调查问卷。(ii)使用EUROCAT数据库对唐氏综合征和神经管缺陷（NTDs）的产前检测和终止数据进行分析。主要结果指标：国家产前筛查政策的存在，TOPFA的法律的妊娠限制，结果18个国家中有10个国家制定了全国范围的唐氏综合征筛查政策，14个国家制定了全国范围的唐氏综合征筛查政策。18个用于构造异常扫描。68%的唐氏综合征病例（范围0-95%）是在产前发现的，其中88%导致终止妊娠。88%（范围25-94%）的NTD病例在产前被发现，其中88%导致终止妊娠。实行孕早期筛查政策的国家产前诊断唐氏综合症的比例最高。没有官方国家唐氏综合征筛查或结构异常扫描政策的国家产前诊断唐氏综合征和NTD病例的比例最低。6的18个国家有一个法律的胎龄限制TOPFA，在两个国家，终止妊娠是非法的，在任何gestation.Conclusions有很大的差异，在欧洲国家之间的筛查政策。这些因素以及组织和文化因素与唐氏综合征和NTD产前检测率的广泛国家差异有关。
Objective To 'map' the current (2004) state of prenatal screening in Europe.Design (i) Survey of country policies and (ii) analysis of data from EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers.Setting Europe.Population Survey of prenatal screening policies in 18 countries and 1.13 million births in 12 countries in 2002-04.Methods (i) Questionnaire on national screening policies and termination of pregnancy for fetal anomaly (TOPFA) laws in 2004. (ii) Analysis of data on prenatal detection and termination for Down's syndrome and neural tube defects (NTDs) using the EUROCAT database.Main outcome measures Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down's syndrome and NTD.Results Ten of the 18 countries had a national country-wide policy for Down's syndrome screening and 14/18 for structural anomaly scanning. Sixty-eight percent of Down's syndrome cases (range 0-95%) were detected prenatally, of which 88% resulted in termination of pregnancy. Eighty-eight percent (range 25-94%) of cases of NTD were prenatally detected, of which 88% resulted in termination. Countries with a first-trimester screening policy had the highest proportion of prenatally diagnosed Down's syndrome cases. Countries with no official national Down's syndrome screening or structural anomaly scan policy had the lowest proportion of prenatally diagnosed Down's syndrome and NTD cases. Six of the 18 countries had a legal gestational age limit for TOPFA, and in two countries, termination of pregnancy was illegal at any gestation.Conclusions There are large differences in screening policies between countries in Europe. These, as well as organisational and cultural factors, are associated with wide country variation in prenatal detection rates for Down's syndrome and NTD.