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Prenatal Diagnosis in France: Between Regulation of Practices and Professional Autonomy

  • Isabelle Ville (a1)

Abstract

Prenatal diagnosis (PND) was introduced in France in the 1970s on the initiative of medical researchers and clinicians. For many years the regulation of practices was self-imposed, decentralised and idiosyncratic. The advent of ‘therapeutic modernity’ in the 1990s gave rise to an ethical, legal and scientific framework designed to homogenise PND at a national level, with the creation of multidisciplinary centres (CPDPN) and the Agence de la biomédecine. This article first recovers the history of PND in France. It then compares the activities of two CPDPNs, using ethnographic fieldwork and by analysing national quantitative data compiled by the Agence. It argues that the official policy of nationally homogeneous practices is not born out in practice, at the local level. This lack of homogeneity is most apparent in the number of authorisations for pregnancy termination due to foetal malformation, which varies considerably from one centre to another. Rooted in local culture, this variation relates to organisational methods, decision-making processes and variable levels of tolerance towards the risk of disability. Foetal medicine practitioners, thus, maintain a certain amount of autonomy that is collective rather than individual and that is reflected in the particular ‘identity’ of a given centre.

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Corresponding author

*Corresponding address: Centre d’Etude des Mouvements Sociaux, Ecole des Hautes Etudes en Sciences Sociales, 54 boulevard Raspail, 75006 Paris - France. Email address for correspondence: Isabelle.ville@ehess.fr

Footnotes

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The project was funded by the Agence Nationale de la Recherche. In 2010 the project was granted authorisation by the CEEI (Institutional Review Board) registered with the NIH’s OHRP (Office of Human Research Protection): IRB0000388 – FWA00005831. First and foremost I would like to thank all of the healthcare professionals who helped with this research. My thanks as well to Caroline Rusterholz and Jesse Olszynko-Gryn for giving me the opportunity to present a former version of this paper at the University of Cambridge on 6–7 September 2016, Ilana Löwy and two anonymous reviewers for their careful re-reading of a previous version of the manuscript and their pertinent remarks, and Christopher Hinton for his translation from French.

Footnotes

References

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1. Heike I. Petermann, Peter S. Harper and Susanne Doetz (eds), History of Human Genetics: Aspects of Its Development and Global Perspectives (Cham: Springer, 2017).

2. Nicolas Dodier, Leçons politiques de l’épidémie de sida (Paris: EHESS, 2003). See also Nicolas Dodier and Janine Barbot, ‘Autonomy and Objectivity as Political Operators in the Medical World: Twenty Years of Public Controversy about AIDS Treatments in France’, Science in Context, 21 (2008), 403–34.

3. Jean-Paul Gaudillière, ‘A comparative and social history of genetic counselling?’. in Petermann et al., op. cit. (note 1), 570.

4. Janine Barbot, ‘How to Build an “Active” Patient? The Work of AIDS Associations in France’, Social Science & Medicine, 62 (2006), 538–51.

5. Annemarie Mol, The Logic of Care: Health and the Problem of Patient Choice (London and New York: Routledge, 2008). Alex Mold, Making the Patient-Consumer: Patient Organisations and Health Consumerism in Britain (Manchester: Manchester University Press, 2015). Diana B. Paul, Controlling Human Heredity: 1865 to the Present (Amherst, NY: Humanity Books, 1995).

6. Among others: Mike Oliver, Understanding Disability: From Theory to Practice (New York: St Martin’s Press, 1996); Colin Barnes and Geof Mercer, Exploring Disability (Cambridge: Polity Press, 2010).

7. Among others: Erik Parens and Adrienne Asch, Prenatal Testing and Disability Rights (Washington: Georgetown University Press, 2002); Marsha Saxton, ‘Disability rights and selective abortion’, in R. Solinger (ed.), Abortion Wars: A Half Century of Struggle, 1950–2000 (Berkeley and Los Angeles: University of California Press, 1997), 374–95; Linda M. Ward. ‘Whose Right to Choose? The “New” Genetics, Prenatal Testing and People with Learning Difficulties’, Critical Public Health, 12 (2002), 187–200; Lisa Blumberg, ‘The Politics of Prenatal Testing and Selective Abortion’, Sexuality and Disability, 12 (1994), 135–53.

8. Law no. 94-654 of 29 July 1994 relating to the donation and use of elements and products of the human body to medical assistance for procreation and to prenatal diagnosis (JORF (Journal officiel de la République française) no. 175 of 30 July 1994, 11060).

9. Law no. 2004-800 of 6 August 2004 relating to bioethics (JORF no. 182 of 7 August 2004, 14040).

10. See L’affaire Perrucheand the decision of the French Supreme Court (Cour de cassation) 17 November 2000, that generated a controversy dividing lawyers and disabled persons associations. Olivier Cayla and Yan Thomas, Le droit de ne pas naître: A propos de l’affaire Perruche (Paris: Gallimard, 2002).

11. Danielle Moyse and Nicole Diederich, ‘Prenatal Screening for Anomalies: Between Clinical Finality and Selective Finality’, Scandinavian Journal of Disability Research, 9 (2007) 254–77.

12. See Petermann et al., op. cit. (note 1); Ilana Löwy, Imperfect Pregnancies: A History of Birth Defects and Prenatal Diagnosis (Baltimore: Johns Hopkins University Press, 2017); Paul, op. cit. (note 5).

13. Paul, op. cit. (note 5).

14. Rayna Rapp, Testing the Women, Testing the Fetus. The Social Impact of Amniocentesis in America (New York, London: Routledge, 2000); Barbara Katz-Rothman, The Tentative Pregnancy: Prenatal Diagnosis and the Future of Motherhood (New York: Penguin books, 1987).

15. Jean-Christophe Weber, Catherine Allamel-Raffin, Thierry Rusterholtz, Isabelle Pons and Isabelle Gobatto, I. ‘Les soignants et la décision d’interruption de grossesse pour motif médical: entre indications cliniques et embarras éthiques’, Sciences Sociales & Santé, 26, 1 (2008), 93–120; Clare Williams, Priscilla Alderson and Bobbie Farsides, op. cit. (note 8); Monique Membrado, ‘La décision médicale entre expertise et contrôle de la demande: le cas des interruptions de grossesse pour motif thérapeutique’, Sciences Sociales et Santé, 19, 2 (2001), 31–61.

16. Angus Clarke, ‘The evolving concept of non-directiveness in genetic counselling, in P. Harper and Doetz (eds), op. cit. (note 1), 541–566; Nete Schwennesen, Mette Nordahl Svendsen and Lene Koch, ‘Beyond Informed Choice: Prenatal Risk Assessment, Decision-making and Trust’, Clinical Ethics, 5 (2010), 207–216; Lynda M. Hunt, Heide Castaneda and Katherine de Voogd, ‘Do Notions of Risk Inform Patient Choice? Lessons from a Study of Prenatal Genetic Counselling’, Medical Anthropology, 25 (2006), 193–219.

17. Clarke, ibid..

18. Michel Foucault, Dits et Ecrits, Tome III: 1976-1978 (Paris: Guallimard).

19. Maria Björkman and Anna Tunlid, ‘The establishment of genetic counselling in Sweden: 1940–80. in Petermann, Harper and Doetz (eds), op. cit. (note 1), 339–366.

20. Paul op. cit. (note 5).

21. For the full transcription of the witness seminar: http://anr-dpn.vjf.cnrs.fr/.

22. Simone Gilgenkrantz and E.M. Rivera, ‘The History of Cytogenetics: Portraits of Some Pioneers’, Annales de Génétique,46, 4 (2003), 433–42.

23. Although the decree law of 29 July 1939 is one of the most repressive texts on abortion, it legalises abortion under the sole condition that it saves the mother’s life; it takes up the device developed by doctors themselves in 1852, the date on which the Académie de Médecinerecognised abortion as a therapeutic act. This measure was in fact intended to contain what was starting to be denounced as abuse. Article 87 states that ‘in order for the medical practitioner to intervene, the mother’s life must be in grave danger. He must then seek the opinion of two consulting doctors, one of whom must be chosen from the civil court’s list of experts. ( $\ldots$ ) during a consultation, the two experts must establish that the mother’s life may only be saved by a termination of pregnancy’. On abortion in France: Jean-Yves Le Naour and Catherine Valenti, Histoire de l’avortement. 19ème20ème siècle (Paris: Le Seuil, 2003); Fabrice Cahen, Gouverner les moeurs, la lutte contre l’avortement en France, 1890–1950 (Paris: Ined, 2016).

24. The term dispositifis taken from Michel Foucault, Surveiller et punir (Paris: Gallimard, 1975).

25. Among these ‘people’, André Boué mentions Simone Veil, then minister for health. It is important to note that André and Joëlle Boué and their team were working under Robert Debré, a leading mandarin, member of the Resistance and politician, who had notably initiated France’s hospital reform in 1958. I would like to thank my colleague, Marianne Bach, for sharing this interview, which took place a decade prior to my team’s work.

26. E. Hervet, ‘Vers l’avortement libre’: Entretiens de Bichat. Gynécologie (1970), 337–42.

27. See Petermann et al, op. cit. (note 1); Löwy, op. cit. (note 13).

28. Backed by Senator Peyret, it authorised abortion in cases where the mother’s health or life were threatened, where there were proven foetal malformations, where pregnancy had resulted from rape or incest, and where the mother or father suffered from mental deficiency.

29. Law no. 75-17 of 17 January 1975 relating to voluntary termination of pregnancy (JORF, 18 January 1975, 739).

30. Law no. 2001-588, updated the 1975 Veil law (JORF no. 0156 of 7 July 2001, 10823). It extended the term allowed for voluntary termination of pregnancy to twelve weeks of pregnancy.

31. Löwy, op. cit. (note 13). The US 1973 law did not initially put time limits on ‘abortion on demand’, but such limits were later established by state legislation. In the UK, such a limit was fixed at twenty-four weeks in 1967. The Austrian law, also passed in 1975, makes the same distinction: Katja Geiger and Thomas Mayer, ‘The establishment of human genetic counselling in Austria in the 1970s in between the establishment of human genetic and eugenic indication of abortion’, in Petermann et al, op. cit. (note 1).

32. Phenylketonuria (PKU) is a rare inherited condition associated with profound mental retardation that can be prevented through the early implementation of a diet. For the history of neonatal screening for PKU, see Diane B. Paul and Jeffrey P. Brosco, The PKU Paradox: A Short History of a Genetic Disease (Baltimore: Johns Hopkins University Press, 2013).

33. Our interviews with the pioneers provided more detailed information on the procedure introduced in the various centres. An information consultation was organised, usually with a geneticist, prior to any amniocentesis; effective performance of the latter was conditional upon an oral undertaking to terminate the pregnancy in the case of a positive diagnosis.

34. Marie-Mouise Briard, ‘Organisation du diagnostic prénatal en France’, in M. Dommergues, S. Aymé, P. Janiaud and V. Seror (eds), Diagnostic prénatal: Pratiques et enjeux (Paris: Inserm, 2003).

35. André Boué, Bulletin de l’Association Française pour le Dépistage et la Prévention des Handicaps de l’Enfant, 1981. Their risk was admittedly increased, but they procreated less. Karyotype analysis could not be expanded, partly due to its financial cost, but also and above all due to its consequences in terms of miscarriage, estimated at 1 per cent.

36. Jean-Pierre Moatti, Catherine Le Gallès, Claire Julian-Reynier and Ségolène Aymé, ‘Le diagnostic prénatal des anomalies chromosomiques en France et en RFA. Intérêt et limites d’un modèle d’autorégulation professionnelle’, in B. Jobert and M. Stephen (eds), Comparaison France-Allemagne des politiques de santé (Paris: Espace Social, 1994), 147–59.

37. Membrado, op. cit. (note 15).

38. Rue Bucher and Anselm Strauss ‘Profession in Process’, American Journal of Sociology, 66, 4 (1961), 325–34.

39. Suzanne Doetz, ‘The happiness of the individual is of primary importance: genetic counselling in the GDR’, in Petermann et al, op. cit. (note 1), 393–420.

40. Anne Carol, L’eugénisme en France. Les médecins face à la procréation (Paris: Flammarion, 1995).

41. The only controversy that arose was within the world of genetics, embodied in the conservative person of Jérôme Lejeune, who was rapidly marginalised due to his anti-abortion position and his close relationship with the Vatican. Peter Harper, interview with André and Joëlle Boué, 22 April 2005, Genetics and Medicine Historical Network, https://genmedhist.eshg.org/fileadmin/content/website-layout/interviewees-attachments/BoueAJ.docx.pdf; ‘Witness Seminar: Histoire du DPN en France’, http://anr-dpn.vjf.cnrs.fr/?q.node/62.

42. Björkman and Tunlid, op. cit. (note 19).

43. It should be noted that the term ’genetic counselling’ is rarely used in France. The profession of conseiller en génétique et en médecine predictive (consultant in genetics and predictive medicine) was recognised in 2004, but these consultants rarely attend PND consultations. Generally speaking, it is midwives who provide women with information on the risks involved, or else obstetricians and geneticists, once a risk has been confirmed.

44. Schwennesen et al, op. cit. (note 16). Clarke, op. cit. (note 16).

45. Björkman and Tunlid, op. cit. (note 19), 342.

46. Paul, op. cit. (note 5).

47. See the witness seminar organised by our research team in 2012: http://anr-dpn.vjf.cnrs.fr/?q.node/62.

48. The Agence de la biomédecinealso plays a role in organ donation and transplant, preimplantation diagnosis and postnatal genetics.

49. In France there are approximately 800,000 births per year and slightly less than 1 per cent of MTPs performed, one-third of which take place after twenty-two weeks of amenorrhea. This number has remained relatively stable since 2009 (annual ABM reports).

51. Rapp, op. cit. (note 14).

52. Klinnefelter syndrome is one of the conditions now deemed less severe than was the case in the past.

53. The Agence de la biomédecinegave me access to these data, which are not in the public domain. For reasons of comparability and robustness, I only retained for analysis the prenatal diagnosis centres (CPDPN) that issued one hundred or more medical termination certificates in 2009.

54. The corpus callosum is the part of the brain that links the two cerebral hemispheres.

55. With centres T and V at the extremes.

56. Juliet Corbin and Anselm Strauss, Basics of Qualitative Research: Techniques and Procedures for Developing Grounded Theory (London: Sage Publications, 1998).

57. Teams were then limited to just a few hospital practitioners, with different specialisations, required to work together. Several informants mention the confrontational atmosphere of the initial debates that took place in the early 1980s, due to the specialists’ diverging views on the consequences of the pathologies and on the resulting quality of life. Membrado, op. cit. (note 15).

58. This information is worthy of mention, even though the data do not allow us to identify their effects. Several studies have demonstrated the effect of gender and of practitioner specialisation on the decision-making process. Among others: Louise Bouchard and Marc Renaud, ‘Female and Men Physicians’ Attitudes Towards Prenatal Diagnosis’, Social Science & Medicine, 44, 3 (1997), 381–92. Arthur Robinson, Bruce G. Bender, Mary G. Linder, ‘Decisions Following the Intrauterine Diagnosis of Sex Chromosome Aneuploidy’, American Journal of Medical Genetics, 34, 4 (1989), 552–4. Theresa M. Marteau, Irma Nippert, Sue Hall, et al, ‘Outcomes of Pregnancies Diagnosed with Klinefelter Syndrome: the Possible Influence of Health Professionals’, Prenatal Diagnosis, 22 (2002), 562–6. These studies were nevertheless conducted some time ago, and we can assume that a more collegial practice has helped to reduce such effects.

59. Rapp, op. cit. (note 14).

60. In 2008, the ratio of malformative pathologies to those of chromosomal origin was 1.41 in the Paris centre, compared to 0.74 in the provincial centre. A similar, albeit smaller, difference was found in 2009 (1.08 vs 0.85). Furthermore, between 2007 and 2009 the Paris centre refused just one case of MTP request, as opposed to seven in the provincial centre.

61. At the beginning of my period of observation, the Down syndrome cases for which couples had requested an MTP were not presented at the staff meetings in Paris as authorisation was taken for granted. The intervention of an ABM inspector led to this assumption being corrected.

62. Williams et al, op. cit. (note 15); Clarke, op. cit. (note 16).

63. Anne Paillet, Sauver la vie, donner la mort (Paris: La dispute, 2007).

64. As a new ‘medical segment’, foetal medicine groups several specialisations together (obstetrics, genetics, radiology, foetopathology, etc.). It involves specific training (university diploma in foetal medicine), has its own society (the Foetal Medicine Club, created in the mid-1980s) which organises regular conferences, and its own journal (The Foetal Medicine Journal). Véronique Mirlesse, ’Diagnostic prenatal et medecine fœtale. Du cadre des pratiques a l’anticipation du handicap. Comparaison France-Bresil’ (unpublished PhD thesis: Université Paris-Sud, 2014). Refusing to be mere implementers of the abortion law, its practitioners offer their own definition of PND: ‘Prenatal diagnosis is a tool which must make it possible to foresee a treatment at birth, to improve the arrival of a new-born baby in difficulty and above all to treat and cure in uteropatients’. R. Shojai, L. Boubli, C. d’Ercole, ‘Prognosis Work-up in Prenatal Medicine: The Example of Down’s Syndrome’, Gynécologie Obstétrique & Fertilité, 33 (2005), 514–9: 518. It reverses the definition in the French public health code and of the law that defines PND as ‘all medical practices the purpose of which is to detect, in utero, in the embryo or foetus, an affection of particular gravity’ (Code de la santé publique - Article L2131-1).

65. D. Bonnet, A. Coltri, G. Butera, L. Fermont, J. Le Bidois, Y. Aggoun, P. Acar, E. Villain, J. Kachaner and D. Sidi, ‘Prenatal Diagnosis of Transposition of Great Vessels Reduces Neonatal Morbidity and Mortality’, Archives des Maladies du Coeur et des Vaisseaux, 92, 5 (1999), 637–40.

66. In the same vein, Deborah Blizzard shows how the ban on abortion in a Catholic clinic encouraged practitioners to attempt in uterosurgery: Deborah Blizzard, Looking Within: A Sociocultural Examination of Fetoscopy (Cambridge, MA: MIT Press, 2007).

67. On this precise point, my observations reveal the influence of a paediatrician, specialising in limb agenesis who became heavily involved in prenatal diagnosis and who had talked a great deal about his healthcare practices and the quality of the children’s lives. Didier Pilliard , Gérard Taussig, Bernadette Boulot and Marie-Laure Devanz, ‘Les cas limites et leur prise en charge: réflexions sur les demandes d’interruptions de grossesse pour anomalie des membres’, in Véronique Mirlesse (ed.) Interruption de grossesse pour pathologie fœtale (Paris: Flammarion Médecine-Sciences, 2002).

68. Paul op. cit. (note 5) clearly shows that eugenics emphasised mentality and behaviour and that mentality remained a primary concern after the post war period. In the Paris centre, a risk of mental retardation, assessed at 15 per cent but incurable, might be considered to be an indication that justified pregnancy termination.

69. Bénédicte Champenois-Rousseau, ’Éthique et moralité ordinaire dans la pratique du diagnostic prénatal’ (unpublished PhD thesis: École Nationale Supérieure des Mines de Paris, 2003), https://pastel.archives-ouvertes.fr/tel-00005674/document.

70. Stefan Timmermans and Mara Buchbinder, ‘Expanded New-born Screening: Articulating the Ontology of Diseases with Bridging Work in the Clinic’, Sociology of Health & Illness, 34 (2012), 208–20.

71. Known syndromes have been described on the basis of their clinical manifestations, taking their most severe forms. Studies of cohorts, costly and sometimes difficult to carry out due to the rarity of certain pathologies, are few in number and often outdated. While molecular genetics has made it possible to identify the less severe or asymptomatic forms of certain syndromes, practitioners’ representations often remain marked by the initial descriptions. Generally speaking, when they do exist, recent studies that deal with congenital anomalies (such as isolated agenesis of the corpus callosum and Klinefelter syndrome, for example) or with suspicious ultrasound signs (such as cervical cystic hygroma) report less severe consequences than those found in the past. However, recent studies report associations between certain chromosomal anomalies, such as Klinefelter syndrome, and forms of mental disorders: M. Cederlöf, A. Ohlsson Gotby, H. Larsson, E. Serlachius, M. Boman, N. Långström, M Landén and P. Lichtenstein, ‘Klinefelter Syndrome and Risk of Psychosis, Autism and ADHD’, Journal of Psychiatric Research, 48, 1 (2014), 128–30.

72. Prevalence is estimated at between one person in 300 and one person in 400: https://www.orpha.net/data/patho/Pub/fr/AgenesieIsoleeCorpsCalleux-FRfrPub447.pdf.

73. Paul K. Lynn, ‘Developmental Malformation of the Corpus Callosum: A Review of Typical Callosal Development and Examples of Developmental Disorders with Callosal Involvement’, Journal of Neurodevelopmental Disorders, 3 (2011), 3–27.

74. Marie-Laure Moutard et al, ‘Agenesis of Corpus Callosum: Prenatal Diagnosis and Prognosis’, Child’s Nervous System,19 (2003), 471–6.

75. Petermann et al, op. cit. (note 1), 570; Paul, op. cit. (note 5); Löwy, op. cit. (note 12).

76. Paul, op. cit. (note 5).

77. Paul, op. cit. (note 5), 122.

78. This fear can also be seen in healthcare policies at national level. Whereas in the UK the NHS recommends non-invasive prenatal testing (NIPT) as a second-stage screening only for women with a risk of 1:150 or higher, France’s Haute Autorité de Santéplaces the cursor at a risk level greater than or equal to 1:1000: https://www.has-sante.fr/portail/upload/docs/application/pdf/2017-05/dir42/synthese_et_recommandations__place_des_tests_adn_libre_circulant_dans_le_sang_maternel_dans_le_depistage_de_la_trisomie_21_f.pdf.

79. C. Shaw-Smith, R. Redon, L. Rickman, M. Rio, L. Willatt, H. Fiegler, H. Firth, D. Sanlaville, R. Winter, L. Colleaux, M. Bobrow and N.P. Carter, ‘Microarray Based Comparative Genomic Hybridisation (Array-CGH) Detects Submicroscopic Chromosomal Deletions and Duplications in Patients with Learning Disability/Mental Retardation and Dysmorphic Features’, Journal of Medical Genetics, 41 (2004), 241–8.

80. These attitudes are consistent with the distinction, depending on the practitioner’s specialisation, that Monique Membrado proposed between ‘attentive to the request’ and ‘regulatory’ in her ethnographic analysis of a PND team in the late 1970s. Membrado, op. cit. (note 15).

81. Mol, op. cit. (note 5).

82. Decree relating to recommendations for good PND practice (JORF no. 0133 of 11 June 2015, 9630).

83. Sources Eurocat: http://www.eurocat-network.eu/prenatalscreeninganddiagnosis/prenatal%20detection(pd)rates. The MTP rate for Down syndrome is close to 80 per cent in France, varies between 51 per cent and 62 per cent in the UK, depending on the region, stands at 54 per cent in the Netherlands and is below 50 per cent in Norway.

84. Pierre-André Taguieff, ‘Au cœur du raisonnement galtonien: le paradoxe de la politique malthusienne et sa solution eugéniste’, Raisons Politiques, 26, 2 (2007), 175–215.

85. Björkman and Tunlid, op. cit. (note 19), 341.

The project was funded by the Agence Nationale de la Recherche. In 2010 the project was granted authorisation by the CEEI (Institutional Review Board) registered with the NIH’s OHRP (Office of Human Research Protection): IRB0000388 – FWA00005831. First and foremost I would like to thank all of the healthcare professionals who helped with this research. My thanks as well to Caroline Rusterholz and Jesse Olszynko-Gryn for giving me the opportunity to present a former version of this paper at the University of Cambridge on 6–7 September 2016, Ilana Löwy and two anonymous reviewers for their careful re-reading of a previous version of the manuscript and their pertinent remarks, and Christopher Hinton for his translation from French.

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