Regulation and financing of prenatal screening and diagnostic tests for fetal anomalies in Europe

Abstract

Background Pregnant women frequently use prenatal screening and diagnostic tests to detect fetal structural and chromosomal anomalies; however, the regulation and financing of these examinations differ substantially across countries. In this paper we focus on the provision, financing and setting of the following tests in selected European countries: First Trimester Screening (FTS)/Combined Test (CT), Non-invasive Prenatal Test (NIPT), second-trimester ultrasound screening for fetal anomalies, amniocentesis/chorionic villus sampling. Methods We chose 6 European countries that differ in various criteria (e.g., health/insurance system, geographical location) to illustrate the range of possible regulations and forms of funding: Germany, Switzerland, Netherlands, United Kingdom, Norway, Italy. We conducted a comprehensive hand search and consulted experts from the 6 countries using a questionnaire. Results The results are based on 11 completed expert questionnaires and 22 published sources. The heterogeneity of the provision, regulation and financing of the tests concerns in particular the choice of the first-line screening test for fetal trisomies (FTS/CT, NIPT or the identification of risk factors), the implementation of the NIPT, the reimbursement of the tests, the uptake of the examinations, but also the professional groups responsible for antenatal care (midwives, gynaecologists). There are some similarities between countries, e.g., concerning the provision and financing of invasive tests and of the ultrasound screening for fetal anomalies in the second trimester. Conclusions The results highlight the significant heterogeneity between European countries regarding prenatal screening and diagnostic testing for fetal anomalies. Due to the many ethical aspects of the topic, a broad societal discourse with the relevant interest groups and stakeholders seems to be necessary. Decision-makers should pay particular attention to high-quality and non-directive counselling. Key messages

First Trimester Contingent Screening for Aneuploidies with Cell-Free Fetal DNA in Singleton Pregnancies – a Swiss Single Centre Experience

“…We have no data on performance of cffDNA screening without prior FTCS, however we assume that diagnosis of trisomies and possibly other pathologies is more often postponed into the second trimester with cffDNA screening only. Austria momentarily does not offer FTCS or cffDNA screening on a national basis but only on indication 32 . We strongly believe that FTCS and cffDNA in a contingent matter is superior to screening by cffDNA only or screening on indication only in order to detect trisomies.…”

“Overestimated technology – underestimated consequences” – reflections on risks, ethical conflicts, and social disparities in the handling of non-invasive prenatal tests (NIPTs)

“…Currently there are 17 European countries in which NIPT technology has been adopted as a part of their publicly financed prenatal care systems. Regulations regarding the scope of testing, test products, consultation processes, financing, personal financial contributions, and inclusion criteria vary substantially country to country and follow entirely different logical precepts (Gadsbøll et al 2020;Ravitsky et al 2021;Reinsperger 2022).…”

“…sponsored screening programmes with very differently defined access criteria and infrastructures (Ravitsky et al 2021;Reinsperger 2022). In Europe, this process has meanwhile progressed to a very high level.…”