Prenatal (genetic) diagnosis is characterised by a further development of scientific and technological possibilities as well as by a qualitative and quantitative expansion of its application – but also by a certain continuity of associated ethical and psychosocial debates and challenges that involve society as a whole. For many years, the requirements and affordability or feasibility of comprehensive counselling before and after prenatal diagnosis as well as the influence on a society’s attitude towards people with (congenital) disabilities have been discussed. However, contrary to earlier forecasts, invasive chromosomal and DNA diagnoses have still not developed to be part of the standard scheme of medical pregnancy care.

In recent years, the German Bundestag has repeatedly dealt with prenatal diagnosis (PND), its medical technological progress as well as its social use. Thus, in March 2015, 157 Members of the German Bundestag from various parliamentary groups submitted a minor interpellation to the German Federal Government with regard to a »prenatal blood test to determine Down's syndrome« (Bundestagsdrucksache 18/4406). The reason for the interpellation was the initiation of a trial procedure by the Joint Federal Committee (G-BA), which could lead to the assumption of costs for non-invasive prenatal tests (NIPTs) that are available in Germany since 2012. Non-invasive prenatal tests detect with high precision some genetic abnormalities of the foetus, such as trisomies 13, 18 and 21, based on a blood test of the expectant mother. Due to its relative frequency and good prenatal recognisability, trisomy 21 (also known as Down's syndrome) is particularly focused on. From the point of view of the Members of the German Bundestag, the G-BA procedure lacked an urgently required accompanying social discussion, for example on whether the availability of early and low-risk test procedures such as NIPTs increases social pressure to give birth (exclusively) to healthy children.

In order to take a closer look at these developments, the Office of Technology Assessment at the German Bundestag (TAB) has been commissioned by the Committee on Education, Research and Technology Assessment of the German Bundestag to carry out a monitoring project dealing with this subject.

Results

The present report provides an overview of the current medical technological and legal status of PND in Germany and summarises social, political and ethical questions and points for debate regarding PND. In summary, it has become obvious that NIPTs currently do not provide any fundamentally new diagnostic findings from a medical-technological point of view. Compared to existing procedures, their low-risk and early application can potentially lead to an intensive use by pregnant women – especially if they are financed by the statutory health insurance scheme. The possibility that genetic analyses of the foetus using NIPTs may become a standard option for pregnant women underlines the need for a broad societal debate.

Besides the legal basis for the application of prenatal diagnosis and the method evaluation procedure on NIPT conducted by the G-BA, which is expected to run until summer 2019, the TAB report also describes the provisions regarding PND made in selected European countries. Moreover, it provides an overview of the current counselling situation for pregnant women with regard to PND. The positions of selected social groups – including pregnant women and their doctors, psychosocial counsellors, midwives, manufacturing companies and civil society activists – are presented in detail. Finally, the report addresses ethical and societal issues regarding prenatal diagnosis, which could be discussed in depth in a joint dialogue between civil society, politics and science.