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Non-invasive prenatal testing as a routine procedure of prenatal care

Perspectives and challenges regarding reproductive autonomy

Nichtinvasive Pränataltests als Teil der vorgeburtlichen Regelversorgung

Perspektiven und Herausforderungen aus Sicht der reproduktiven Autonomie

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Abstract

Definition of the problem

In March 2019, the German Gemeinsamer Bundesausschuss (G‑BA; Federal Joint Committee) presented the result of the method assessment process on non-invasive prenatal testing (NIPT). The aim of this method assessment process was to decide whether NIPT should become a publicly funded procedure of routine prenatal care. The G‑BA decided in favor of NIPT, making the implementation of NIPT very likely, provided that other healthcare and political institutions also agree.

Arguments

This development could be interpreted as empowering from the perspective of reproductive autonomy, since NIPT allows pregnant women to obtain valuable information on the health of the fetus in a fast and easy manner and without the risks of invasive methods. However, the routinization of NIPT also implies ethical challenges. Will the routinization lead to a normalization of prenatal quality control? Will it lead to an expansion to women outside the high-risk group? What would be the ethical implications of such a development? How should physicians, geneticists, and patients deal with the increased amount of obtainable information? What are the implications for choice and decision-making in the prenatal care context?

Conclusion

In this paper, we analyze the ethical aspects of the routinization of NIPT, focusing on information and the counseling process, the burden of choice, and the threats to reproductive autonomy by societal interests linked to NIPT.

Zusammenfassung

Fragestellung

Im März 2019 veröffentlichte der Gemeinsame Bundesausschuss (G‑BA) das Ergebnis des Methodenbewertungsverfahrens hinsichtlich nichtinvasiver Pränataltests (NIPT). Ziel des Methodenbewertungsverfahrens war zu beurteilen, ob NIPT als solidargemeinschaftliche Leistung in die vorgeburtliche Regelversorgung aufgenommen werden sollen. Der G‑BA votierte zugunsten von NIPT, was deren Implementierung in der Regelversorgung wahrscheinlich macht, sofern andere Körperschaften des Gesundheitswesens und politische Institutionen zustimmen.

Argumente

Diese Entwicklung kann als Empowerment der reproduktiven Autonomie verstanden werden, da NIPT es den Schwangeren ermöglichen, wertvolle Gesundheitsinformationen bezüglich des Fetus zu erhalten. Zudem erfolgt die Anwendung von NIPT relativ schnell und einfach und ist nicht mit den Risiken invasiver Verfahren verbunden. Die Routinisierung von NIPT bringt allerdings auch ethische Herausforderungen mit sich. Wird der routinemäßige Einsatz von NIPT zur Normalisierung der pränatalen Qualitätskontrolle führen? Kann die Routinisierung eine Ausweitung der Anwendung jenseits der Hochrisikogruppe zur Folge haben? Was wären die ethischen Aspekte einer solchen Entwicklung? Wie sollen Ärzte, Genetiker und Patienten mit der gesteigerten Menge verfügbarer Daten umgehen? Welche Konsequenzen ergeben sich für den Prozess der Entscheidungsfindung im Kontext pränataler Versorgung?

Schlussfolgerung

In diesem Beitrag analysieren wir die ethischen Aspekte der Routinisierung von NIPT. Dabei fokussieren wir auf die Rolle der Aufklärung und des Beratungsprozesses, den Aspekt der „burden of choice“ und die möglichen Bedrohungen für die reproduktive Autonomie durch gesellschaftliche Interessen, die mit dem Einsatz von NIPT verbunden sind.

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References

  • Asch A (2000) Why I haven’t changed my mind about prenatal diagnosis: reflections and refinements. In: Parens E, Asch A (eds) Prenatal testing and disability rights. Georgetown University Press, Washington (DC), pp 234–258

    Google Scholar 

  • Beier K, Wiesemann C (2013) Reproduktive Autonomie in der liberalen Demokratie. Eine ethische Analyse. In: Wiesemann C, Simon A (eds) Patientenautonomie: Theoretische Grundlagen – praktische Anwendungen. Mentis, Münster, pp 205–221

    Google Scholar 

  • Best M (2018) The dilemma of prenatal screening. Ethics Med 34:113–123

    Google Scholar 

  • Birko S, Lemoine M‑E, Nguyen MT et al (2018) Moving towards routine non-invasive prenatal testing (NIPT): challenges related to women’s autonomy. Obm Genet. https://doi.org/10.21926/obm.genet.1802018

    Article  Google Scholar 

  • Birko S, Ravitsky V, Dupras C et al (2019) The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access. BMC Pregnancy Childbirth 19:22

    PubMed  PubMed Central  Google Scholar 

  • Buchanan AE (1996) Choosing who will be disabled: genetic intervention and the morality of inclusion. Soc Philos Policy 13:18–46

    PubMed  Google Scholar 

  • Bunnik EM, De Jong A, Nijsingh N et al (2013) The new genetics and informed consent: differentiating choice to preserve autonomy. Bioethics 27:348–355

    PubMed  Google Scholar 

  • BVNVP (2018) BVNP-Positionspapier 2018 zum Thema „NIPT als GKV-Leistung“ (aktuelles Methodenbewertungsverfahren des G‑BA). https://www.bvnp.de/media/25-2018-11-07-positionspapier-nipt-aktuell-11-2018-pdf/. Accessed 10 May 2019

    Google Scholar 

  • Cernat A, De Freitas C, Majid U et al (2019) Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women’s experiences. BMC Pregnancy Childbirth. https://doi.org/10.1186/s12884-018-2168-4

    Article  PubMed  PubMed Central  Google Scholar 

  • DÄB (2017) Stellungnahme des Ethik-Ausschusses des Deutschen Ärztinnenbundes e. V. im Mai 2017: Sollen nicht-invasive Pränataltests in die Mutterschaftsrichtlinien aufgenommen werden? https://www.aerztinnenbund.de/downloads/4/DAeB%20Stellungnahme%20NIPT_23.5.2017.pdf. Accessed 10 May 2019

    Google Scholar 

  • Deans Z, Hill M, Chitty LS et al (2013) Non-invasive prenatal testing for single gene disorders: exploring the ethics. Eur J Hum Genet 21:713–718

    PubMed  Google Scholar 

  • Donovan S (2006) Inescapable burden of choice? The impact of a culture of prenatal screening on women’s experiences of pregnancy. Health Sociol Rev 15:397–405

    Google Scholar 

  • Farrell RM, Agatisa PK, Mercer MB et al (2016) Expanded indications for noninvasive prenatal genetic testing: implications for the individual and the public. Ethics Med Public Health 2:383–391

    Google Scholar 

  • G‑BA (2019) Beschlussentwurf des Gemeinsamen Bundesausschusses über eine Änderung der Mutterschafts-Richtlinien (Mu-RL). https://www.g-ba.de/downloads/40-268-5639/2019-03-22_Einleitung-SN_NiPT_Beschlussentwurf_WZ.pdf. Accessed 9 May 2019 (Nicht-invasive Pränataldiagnostik zur Bestimmung des Risikos autosomaler Trisomien 13, 18 und 21 mittels eines molekular-genetischen Tests (NIPT) für die Anwendung bei Risikoschwangerschaften im Rahmen der Mu-RL)

    Google Scholar 

  • García E, Timmermans DRM, van Leeuwen E (2012) Parental duties and prenatal screening: does an offer of prenatal screening lead women to believe that they are morally compelled to test? Midwifery 28:e837–e843

    PubMed  Google Scholar 

  • Gottfreðsdóttir H, Árnason V (2011) Bioethical concepts in theory and practice: an exploratory study of prenatal screening in Iceland. Med Health Care Philos 14:53–61

    PubMed  Google Scholar 

  • Haidar H, Dupras C, Ravitsky V (2016) Non-invasive prenatal testing: review of ethical, legal and social implications. BioéthiqueOnline 5:1–14

    Google Scholar 

  • Harris J (2005) Reproductive liberty, disease and disability. Reprod Biomed Online 10:13–16

    PubMed  Google Scholar 

  • Johnston J, Zacharias RL (2017) The future of reproductive autonomy. Just reproduction: reimagining autonomy in reproductive medicine. Hastings Cent Rep 47:S6–S11 (Special report)

    PubMed  Google Scholar 

  • Kater-Kuipers A, Bunnik EM, de Beaufort D et al (2018) Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals. BMC Pregnancy Childbirth 18:409

    CAS  PubMed  PubMed Central  Google Scholar 

  • Katz Rothman B (1986) The tentative pregnancy: prenatal diagnosis and the future of motherhood. Viking, New York

    Google Scholar 

  • King LP (2017) Should clinicians set limits on reproductive autonomy? Just reproduction: reimagining autonomy in reproductive medicine. Hastings Cent Rep 47:S50–S56 (Special Report)

    PubMed  Google Scholar 

  • Lewis C, Hill M, Chitty LS (2017) Offering non-invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained? Prenat Diagn 37:1130–1137

    CAS  PubMed  PubMed Central  Google Scholar 

  • Liehr T, Lauten A, Schneider U et al (2017) Noninvasive prenatal testing—when is it advantageous to apply. Biomed Hub 2:1–11

    PubMed  PubMed Central  Google Scholar 

  • Long S, O’Leary P, Lobo R et al (2018) Women’s understanding and attitudes towards Down Syndrome and other genetic conditions in the context of prenatal screening. J Genet Counsel 27:647–655

    Google Scholar 

  • Mackie FL, Hemming K, Allen S et al (2016) The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG 124:32–46

    PubMed  Google Scholar 

  • Marteau TM, Dormandy E, Michie S (2001) A measure of informed choice. Health Expect 4:99–108

    CAS  PubMed  PubMed Central  Google Scholar 

  • McCarthy Veach P, Bartels DM, LeRoy BS (2007) Coming full circle: a reciprocal-engagement model of genetic counseling practice. J Genet Counsel 16:713–728

    Google Scholar 

  • Munthe C (2015) A new ethical landscape of prenatal testing: individualizing choice to serve autonomy and promote public health: a radical proposal. Bioethics 29:36–45

    PubMed  Google Scholar 

  • Mutcherson K (2017) Reproductive rights without resources or recourse. Just reproduction: reimagining autonomy in reproductive medicine. Hastings Cent Rep 47:S12–S18 (Special report)

    PubMed  Google Scholar 

  • Ohnhäuser T, Schmitz D (2016) Non-invasive Prenatal Testing (NIPT): Better meet an expert! The case of a late detected Trisomy 13 reveals structural problems in NIPT counselling and highlights substantial risks for the reproductive autonomy. Geburtshilfe Frauenheilkd 76:277–279

    Google Scholar 

  • Orzechowski M, Steger F (2019) Social diversity under threat? Debates about prenatal genetic diagnostics in Germany and Poland. In: Steger F (ed) Diversität im Gesundheitswesen. Angewandte Ethik – Medizin, vol 3. Alber, Freiburg, pp 275–295

    Google Scholar 

  • Paley Galst J, Verp M (eds) (2015) Prenatal and preimplantation diagnosis. The burden of choice. Springer, Cham

    Google Scholar 

  • Parens E, Asch A (2003) Disability rights critique of prenatal genetic testing: reflections and recommendations. Ment Retard Dev Disabil Res Rev 9:40–47

    PubMed  Google Scholar 

  • Piechan JL, Hines KA, Koller DL et al (2016) NIPT and informed consent: an assessment of patient understanding of a negative NIPT result. J Genet Couns 25:1127–1137

    PubMed  Google Scholar 

  • Ravitsky V (2017) The shifting landscape of prenatal testing: between reproductive autonomy and public health just reproduction: reimagining autonomy in reproductive medicine. Hastings Cent Rep 47:34–40 (Special report)

    Google Scholar 

  • Robertson JA (1994) Children of choice. Freedom and the new reproductive technologies. Princeton University Press, Princeton

    Google Scholar 

  • Rubeis G, Steger F (2019) A burden from birth? Non-invasive prenatal testing and the stigmatization of people with disabilities. Bioethics 33:91–97

    PubMed  Google Scholar 

  • Salema S, Townsend A, Austin J (2019) Patient decision-making and the role of the prenatal genetic counselor: an exploratory study. J Genet Couns 28:155–163

    PubMed  Google Scholar 

  • Schmitz D (2016) Ethische Herausforderungen der neuen nichtinvasiven Pränataltestung. Gynäkologe 49:442–447

    Google Scholar 

  • Schoonen HMHJD, van Agt HME, Essink-Bot ML et al (2011) Informed decision-making in prenatal screening for Down’s syndrome: what knowledge is relevant? Patient Educ Couns 84:265–270

    CAS  PubMed  Google Scholar 

  • Steinfarth H, Pindur AM (2013) Patientenautonomie im Spannungsfeld philosophischer Konzeptionen von Autonomie. In: Wiesemann C, Simon A (eds) Patientenautonomie: Theoretische Grundlagen – praktische Anwendungen. Mentis, Münster, pp 27–41

    Google Scholar 

  • Stumm M, Schröer A (2018) Sollen die Indikationen für nichtinvasive Pränataltests erweitert werden? Gynäkologe 51:24–31

    Google Scholar 

  • Suter SM (2002) The routinization of prenatal testing. Am J Law Med 28:233–270

    PubMed  Google Scholar 

  • Thomas GR, Katz Rothman B (2016) Keeping the backdoor to eugenics ajar? Disability and the future of prenatal screening. AMA J Ethics 18:406–415

    PubMed  Google Scholar 

  • Vetter K (2016) NIPD – ein Dammbruch in der pränatalen Diagnostik? Gynäkologe 49:448–450

    CAS  Google Scholar 

Download references

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Correspondence to Giovanni Rubeis.

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Conflict of interest

G. Rubeis, M. Orzechowski and F. Steger declare that they have no competing interests.

Ethical standards

For this article no studies with human participants or animals were performed by the author. All studies performed were in accordance with the ethical standards indicated in each case.

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Rubeis, G., Orzechowski, M. & Steger, F. Non-invasive prenatal testing as a routine procedure of prenatal care. Ethik Med 32, 49–63 (2020). https://doi.org/10.1007/s00481-019-00555-0

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