年龄特异性摄取非侵入性产前检查(NIPT)在德国:决策理论为基础的分析。

IF 1.5 Q4 GENETICS & HEREDITY
Michael Krawczak, Bernd Eiben, Sebastian Sendel, Amke Caliebe, Lidewij Henneman, Ralf Glaubitz, Heike Borth, Jörg Schmidtke
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引用次数: 0

摘要

胎儿染色体畸变的无创产前检测(NIPT)是全球医疗保健系统的重要组成部分,尽管诊断覆盖率和使用条件各不相同。在德国,NIPT主要针对21、18和13三体,在经过彻底的事先咨询后,检测费用由法定健康保险报销。尽管与其他国家相比,这种方法相当严格,但在德国,人们仍然担心年轻孕妇,特别是胎儿非整倍体风险较低的孕妇,可能被过度鼓励接受NIPT。然而,一项基于决策理论的德国NIPT数据分析表明,目前没有证据表明避免生三体孩子是一个强烈的动机,尤其是年轻女性参加测试。相反,全国NIPT摄取数据与相应年龄特定的先前风险异常一致。值得注意的是,当我们将荷兰作为医疗保健系统的一个例子时,没有发现这样的协议,其中NIPT涵盖了没有年龄依赖性风险的额外染色体畸变。我们的分析在其他国家的复制将揭示年龄特异性先前风险和NIPT摄取之间的强烈一致性是否为德国所独有。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Age-specific uptake of non-invasive prenatal tests (NIPT) in Germany: a decision theory-based analysis.

Non-invasive prenatal testing (NIPT) for fetal chromosomal aberrations is an important component of healthcare systems worldwide, albeit with varying diagnostic coverage and conditions of use. In Germany, NIPT primarily focuses on trisomies 21, 18 and 13, for which the test costs are reimbursed by the statutory health insurance after thorough prior counseling. Despite this rather restrictive approach compared to other countries, concerns continue to be raised in Germany that young pregnant women, in particular, who are at a low risk of fetal aneuploidy, may have been overly encouraged to undergo NIPT. However, a decision theory-based analysis of the NIPT uptake figures in Germany suggests that there is currently no evidence that avoiding the birth of a trisomic child is a strong motivation particularly of younger women to take the test. Instead, the nation-wide NIPT uptake figures are exceptionally well in line with the corresponding age-specific prior risks. Notably, no such agreement was found when we considered the Netherlands as an example of a healthcare system where NIPT covers additional chromosomal aberrations without age-dependent risk. Replication of our analysis in other countries will reveal whether a strong consistency between age-specific prior risk and NIPT uptake is unique to Germany, or not.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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