Non-invasive prenatal testing in Germany: a unique ethical and policy landscape

Non-invasive prenatal testing (NIPT) has been available commercially in Europe since approximately 2012. Currently, many countries are in the process of integrating NIPT into their publicly funded healthcare systems to screen for chromosomal aneuploidies such as trisomy 21 (Down syndrome), with a variety of implementation models. In 2019, the German Federal Joint Committee (G-BA), which plays a significant role in overseeing healthcare decisions in Germany, recommended that NIPT be reimbursed through public insurance. Following this recommendation, NIPT will be offered on a case-by-case basis, when a pregnant woman, after being counselled, makes an informed decision that the test is necessary in her personal situation. This model differs significantly from many other European countries, where NIPT is being implemented either as a first-tier screening offer available for all pregnancies, or a contingent screen for those with a high probability of foetal aneuploidy (with varying probability cut-offs). In this paper we examine how this unique approach to implementing NIPT in Germany is produced by an ethical and policy landscape resulting from a distinctive cultural and historical context with a significant influence on healthcare decision-making. Due in part to the specific legal and regulatory environment, as well as strong objections from various stakeholders, Germany did not implement NIPT as a first-tier screen. However, as Germany does not currently publicly fund as standard other forms of prenatal aneuploidy screening (such as combined first trimester screening), neither can it be implemented as a screen contingent on specific probability cut-offs. We discuss how German policy reflects the echoes of the past shaping approaches to new biotechnologies, and the implications of this unique model for implementing NIPT in a public healthcare system

Supporting patient decision-making in non-invasive prenatal testing: a comparative study of professional values and practices in England and France

Background Non-invasive prenatal testing (NIPT), which can screen for aneuploidies such as trisomy 21, is being implemented in several public healthcare systems across Europe. Comprehensive communication and information have been highlighted in the literature as important elements in supporting women’s reproductive decision-making and addressing relevant ethical concerns such as routinisation. Countries such as England and France are adopting broadly similar implementation models, offering NIPT for pregnancies with high aneuploidy probability. However, we do not have a deeper understanding of how professionals’ counselling values and practices may differ between these contexts. Methods In this paper, we explore how professionals in England and France support patient decision-making in the provision of NIPT and critically compare professional practices and values. We draw on data from semi-structured interviews with healthcare professionals. Results Both English and French professionals emphasised values relating to patient choice and consent. However, understandings and application of these values into the practice of NIPT provision differed. English interviewees placed a stronger emphasis on interpreting and describing the process of counselling patients and clinical care through a “principle” lens. Their focus was on non-directiveness, standardisation, and the healthcare professional as “decision-facilitator” for patients. French interviewees described their approach through a “procedural” lens. Their focus was on formal consent, information, and the healthcare professional as “information-giver”. Both English and French professionals indicated that insufficient resources were a key barrier in effectively translating their values into practice. Conclusion Our findings illustrate that supporting patient choice in the provision of NIPT may be held as an important value in common on a surface level, but can be understood and translated into practice in different ways. Our findings can guide further research and beneficially inform practice and policy around NIPT provision

Negotiating severity behind the scenes: prenatal testing in Germany

Foetal-related severity is a key concept in policy and legislation relating to access to both reproductive technologies and selective abortions in many countries around the world, but not in Germany. This study sheds light on how ‘severity’ in the context of prenatal testing is understood and negotiated within the particular socio-cultural and legal context of Germany, where ‘severity’ relating to foetal clinical findings neither counts as a justification to implement population prenatal screening programs, nor as a legal ground to terminate pregnancy. This study explores the views of women who undergo prenatal testing, as well as of professionals who encounter them, through semi-structured interviews. It showcases how they frame severity and questions whether the existing legal and regulatory framework relating to prenatal testing and termination of pregnancy addresses their concerns and needs regarding reproductive decision-making. The interviews (n = 27) reveal that despite it being legally outside the explicit reasons for testing and termination of pregnancy, both women and professionals negotiate severity behind the scenes. Their interpretation of severity is highly context-dependent and relies on clinical, social and familial facets. Their perceptions of severity guide them in their handling of and decision-making around pregnancy management. Acknowledging the personal nature of severity assessment and providing professional or legal guidance which explicitly mentions foetal anomaly as a legitimate factor in pregnancy management could provide healthcare professionals and patients with the room needed to manage the pregnancy favourably

Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

‘The tabloid test’: a qualitative interview study on the function and purpose of termination of pregnancy review committees in Victoria, Australia

Background: Termination of pregnancy (TOP) is not an uncommon procedure. Availability varies greatly between jurisdictions; however, additional institutional processes beyond legislation can also impact care and service delivery. This study serves to examine the role institutional processes can play in the delivery of TOP services, in a jurisdiction where TOP is lawful at all gestations (Victoria, Australia). As per the Abortion Law Reform Act 2008, TOPs post-24 weeks require the approval of two medical practitioners. However, in Victoria, hospitals that offer post-24 week TOPs generally require these cases to additionally go before a termination review committee for assessment prior to the service being provided. These committees are not stipulated in legislation. Information about these committees and how they operate is scarce and there is minimal information available to the public. Methods: To trace the history, function, and decision-making processes of these committees, we conducted a qualitative interview study. We interviewed 27 healthcare professionals involved with these committees. We used purposive sampling to gain perspectives from a range of professions across 10 hospitals. Interviews were transcribed verbatim, identifying details removed and inductive thematic analysis was performed. Results: Here, we report the three main functions of the committees as described by participants. The functions were to protect: (1) outward appearances; (2) inward functionality; and/or, (3) service users. Function (1) could mean protecting the hospital’s reputation, with the “Herald Sun test”—whether the TOP would be acceptable to readers of the Herald Sun, a tabloid newspaper—used as a heuristic. Function (2) related to logistics within the hospital and protecting the psychological wellbeing and personal reputation of healthcare professionals. The final function (3) related to ensuring patients received a high standard of care. Conclusions: The primary functions of these committees appear to be about protecting hospitals and clinicians within a context where these procedures are controversial and stigmatized. The results of this study provide further clarity on the processes involved in the provision of TOPs at later gestations from the perspectives of the healthcare professionals involved. Institutional processes beyond those required by legislation are put in place by hospitals. These findings highlight the additional challenges faced by patients and their providers when seeking TOP at later gestations.</p

The ‘Institutional Lottery': Institutional variation in the processes involved in accessing late abortion in Victoria, Australia

Despite abortion being decriminalised in Victoria, Australia, access remains difficult, especially at later gestations. Institutions (i.e. health services) place restrictions on the availability of late abortions and/or require additional requirements to be satisfied (e.g. Hospital Termination Review Committee approval), as a consequence of local regulation (i.e. policies and processes determined at the institutional level). This paper reports on the results of 27 interviews with Victorian health professionals about late abortion processes and the operation of Termination Review Committees in Victorian health services, which were analysed thematically. The results reveal the operation of an ‘institutional lottery’ whereby patients' experiences in seeking late abortion services were variable and largely shaped by the institution(s) they found themselves in.</p