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
Abstract
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.
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.