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1990-2021 年欧洲、美国、澳大利亚和新西兰的唐氏综合征筛查和诊断实践。

Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021.

机构信息

Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, 02114, USA.

Dutch Down Syndrome Foundation, Meppel, the Netherlands.

出版信息

Eur J Hum Genet. 2023 May;31(5):497-503. doi: 10.1038/s41431-023-01330-y. Epub 2023 Mar 16.

Abstract

Antenatal screening and diagnostic testing for Down syndrome has greatly advanced over the past 30 years. The goal of this manuscript is to provide a review of the availability and accessibility of prenatal services and selective termination policies across Europe, Australia, New Zealand, and the United States for the period 1990-2021. We collected data from academic peer-reviewed journals, governmental documents, not-for-profit organizations, correspondence with experts, and other online sources without language restrictions. Prenatal screening services from 1990-2021 became increasingly available across countries, enabling expectant couples the opportunity to gain more accurate information earlier in the pregnancy before assuming the risk associated with more invasive techniques like CVS or amniocentesis. Many countries also began adopting prenatal screening as a qualification for prenatal diagnosis. As of 2021, at least 76.9% of countries offered full coverage for diagnostic testing for Down syndrome from government funding. Abortion coverage for a Down syndrome diagnosis was covered fully by government funding in 52.4% of countries in 1990, increasing to 73.8% in 2021. Understanding the changing landscape of prenatal services builds the foundation for future investigation into social policies that affect the prevalence of Down syndrome.

摘要

产前筛查和诊断性检测在过去 30 年中取得了巨大进展。本文的目的是回顾 1990 年至 2021 年期间欧洲、澳大利亚、新西兰和美国的产前服务和选择性终止政策的可及性和可获得性。我们收集了来自学术同行评议期刊、政府文件、非营利组织、与专家的通信以及其他在线来源的信息,不限制语言。1990 年至 2021 年期间,产前筛查服务在各国变得越来越普及,使准父母有机会在怀孕早期获得更准确的信息,而无需承担像 CVS 或羊膜穿刺术等更具侵入性的技术带来的风险。许多国家也开始将产前筛查作为产前诊断的资格条件。截至 2021 年,至少有 76.9%的国家提供政府资金支持的全面唐氏综合征诊断性检测。1990 年,有 52.4%的国家完全由政府资金覆盖唐氏综合征诊断的堕胎,到 2021 年这一比例增加到 73.8%。了解产前服务的变化情况为未来研究影响唐氏综合征患病率的社会政策奠定了基础。

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