Non-Invasive Prenatal Testing in Germany

GND
115661239
ORCID
0000-0003-1672-3054
Zugehörigkeit
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, 07747 Jena, Germany
Liehr, Thomas;
ORCID
0000-0002-1613-1019
Zugehörigkeit
Department of Genetics and Cytology, Yerevan State University, Yerevan 0001, Armenia
Harutyunyan, Tigran;
ORCID
0000-0002-4368-5009
Zugehörigkeit
Tempus Labs, Inc., Chicago, IL 60654, USA
Williams, Heather;
GND
12954275X
ORCID
0000-0003-3988-8919
Zugehörigkeit
Jena University Hospital, Institute of Human Genetics
Weise, Anja

In the short 10 years following the introduction of non-invasive prenatal testing (NIPT), it has been adapted in many countries around the world as a standard screening test. In this review, this development was analyzed with a special focus on Germany. As a result, it can be stated that all known advantages of NIPT apart from “compensating for having no access to centers offering invasive diagnostics” are valid for Germany. In addition, following a review of the international literature, all documented issues with NIPT are also observed in Germany. However, the German Gene Diagnostics Act (GenDG) addresses a number of these issues, for example, the regulations by GenDG hamper induced abortions, based exclusively on an abnormal NIPT result. At the same time, GenDG has created new problems, as a possible collusion between the “right not to know with regard to parts of the examination result” may occur, or that the sex of the fetus must not be reported to the pregnant woman before the 12th week of gestation. Main conclusions drawn are that appropriate training and the continuing education of the physicians providing NIPT-related counseling are needed, as well as the provision of balanced and comprehensive information for the pregnant woman or the couple that is imperative.

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