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Physician Liability and Non-Invasive Prenatal Testing
COMMENTARY
Physician Liability and Non-Invasive Prenatal Testing Maeghan Toews, LLM,1 Timothy Caulfield, LLM, FRSC1,2 Health Law Institute, Faculty of Law, University of Alberta, Edmonton AB
1
School of Public Health, University of Alberta, Edmonton AB
2
Abstract Although non-invasive prenatal testing (NIPT) marks a notable development in the field of prenatal genetic testing, there are some physician liability considerations raised by this technology. As NIPT is still emerging as the standard of care and is just starting to receive provincial funding, the question arises of whether physicians are obligated to disclose the availability of NIPT to eligible patients as part of the physician–patient discussion about prenatal screening and diagnosis. If NIPT is discussed with patients, it is important to disclose the limitations of this technology with respect to its accuracy and the number of disorders that it can detect when compared with invasive diagnostic options. A failure to sufficiently disclose these limitations could leave patients with false assurances about the health of their fetuses and could raise informed consent and liability issues, particularly if a child is born with a disability as a result.
Résumé Bien que le dépistage prénatal non effractif (DPNE) constitue une innovation importante dans le domaine du dépistage génétique prénatal, la technologie qui la sous-tend soulève certains facteurs à prendre en considération en ce qui a trait à la responsabilité des médecins. Compte tenu que le DPNE cherche toujours à faire sa place à titre de norme de diligence et qu’il commence tout juste à bénéficier d’un financement provincial, nous faisons face à la question de savoir si les médecins ont l’obligation de divulguer la disponibilité du DPNE aux patientes admissibles dans le cadre des discussions médecin-patiente au sujet du dépistage / diagnostic prénatal. Lorsque l’on discute du DPNE avec les patientes, il est important d’en divulguer les limites en ce qui a trait à sa précision et au nombre des troubles dont il permet la détection, par comparaison avec les options diagnostiques effractives. Lorsque l’on ne déploie pas suffisamment d’efforts pour divulguer ces limites, les patientes pourraient se trouver faussement rassurées au sujet de la santé de leur fœtus; une telle situation pourrait également soulever des questions de consentement éclairé et de responsabilité, particulièrement dans les cas où la grossesse en question se solde par la naissance d’un enfant présentant une déficience. Key Words: Non-invasive prenatal testing, provider liability, disclosure obligations Competing Interests: None declared. Received April 22, 2014 Accepted June 20, 2014
INTRODUCTION
T
he advancement of non-invasive prenatal testing (NIPT) and its introduction into the health care sector has been portrayed as a revolutionary, paradigm-shifting development that will fundamentally alter the current framework of prenatal treatment.1–4 The excitement surrounding the development of this technology is due to its non-invasive nature, its potentially high level of accuracy in detecting Down syndrome and other aneuploidies, and its ability to be employed at a relatively early point during pregnancy.3,5 Proponents of NIPT aim for it to become the universal standard of care for prenatal genetic screening, available to all pregnant women, with the benefit of reducing the number of fetal losses associated with more invasive procedures.6–8 However, NIPT has also raised ethical concerns such as its effect on the disability community and potential use for sex selection,9–13 as well as legal concerns for physicians providing prenatal care. In Canada, NIPT is currently available in the private sector to pregnant women at high risk14–16 and is beginning to receive provincial funding.17 In deciding whether to fund emerging health technologies, provinces engage in health technology assessments to determine whether the technology will be clinically beneficial and economically feasible.18,19 Whether or not NIPT is incorporated into the current publicly funded prenatal genetic screening and diagnostic options throughout Canada will depend on several factors, including the performance of NIPT in women with a low a priori risk of having a fetus with aneuploidy, patient views and demand,5,20 ease of integration into current practices,5,21 the views of health care providers,21 cost-effectiveness,8 and the recommendations of the major professional bodies overseeing obstetricians, gynaecologists, and medical geneticists.3,20,22,23 J Obstet Gynaecol Can 2014;36(10):907–914
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Commentary
The Society of Obstetricians and Gynaecologists of Canada, the American College of Obstetricians and Gynecologists, the International Society of Prenatal Diagnosis, the National Society of Genetic Counselors, and the American College of Medical Genetics and Genomics currently recommend that NIPT be used as a screening tool for women at high risk of having a baby with the specific disorders that NIPT can detect.24–28 Relevant risk factors include maternal age, medical and family histories, and results of other prenatal screening tests such as integrated prenatal screening, first trimester combined screening, or maternal serum screening.11,20 Because NIPT is currently less accurate29,30 and detects a more limited range of disorders than the invasive diagnostic tests,3,29,31 these professional organizations continue to recommend that chorionic villus sampling or amniocentesis be used to confirm positive NIPT results24–28 (Appendix 1). Further, NIPT is not currently recommended for women at low risk of carrying an affected fetus,24–28 although evidence demonstrating the effectiveness of NIPT in the general population is emerging.22,31–36 As a result, NIPT remains largely viewed as a highly accurate screening tool rather than a diagnostic test.3,20,22,23,31 As a screening tool, NIPT could be used as a second-tier screen for women at high risk (or eventually as the primary test for the general population), or in conjunction with the ultrasound testing currently available to ensure structural abnormalities undetectable through genetic testing are identified.5,23,29,31 Depending on how NIPT is integrated into the current prenatal screening and diagnostic framework, and whether it does in fact become the standard of care, different legal issues could arise. Specifically, physician liability issues may emerge if physicians fail to inform their patients of the availability of NIPT or fail to disclose its current limitations. It is therefore of vital importance that physicians have complete information from high quality and independent sources about the availability, effectiveness, and implications of this novel form of testing so that they can effectively communicate this information to their patients. LIABILITY IMPLICATIONS OF NIPT FOR PHYSICIANS
Physicians have a legal obligation to treat their patients with the level of skill and care that a reasonable practitioner with the same level of experience would exercise, and a higher degree of skill and care is required of specialists.37,38 Incorporated in this duty of care is the duty to obtain informed consent.39 To this end, physicians must “disclose the material, special or unusual risks that a reasonable 908 l OCTOBER JOGC OCTOBRE 2014
person in the patient’s position would want to know.”40 The extent to which NIPT will affect the standard of care or level of disclosure by physicians is therefore a relevant consideration. NIPT Under the Current Treatment Standards
In most provinces, NIPT is not currently a publicly funded test. Some provincial programs will provide funding support under specific circumstances, such as when the criteria for out-of-country health services are satisfied.17 Regardless, this is a technology that is commercially available to pregnant women. As its status in forming part of the standard of care is still emerging, questions about the legal implications of physicians’ screening and diagnostic recommendations arise. It is clear that the recommendation to pursue invasive diagnosis over NIPT would not, at present, amount to negligence, despite the risk of fetal loss associated with the more invasive procedures. The Supreme Court of Canada has recognized that “a doctor will not be found liable if the diagnosis and treatment given to a patient correspond to those recognized by medical science at the time, even in the face of competing theories.”41 However, should NIPT become the standard of care for prenatal diagnosis in the future, replacing amniocentesis and chorionic villus sampling under the current framework, physicians could be found negligent if they continue to rely on the more invasive procedures and fetal loss occurs as a result. As the standard of care can change over time, it is the standard in place at the time the alleged negligence occurs that will be used to judge the physician’s conduct, and physicians must therefore “keep pace with advances in medical science.”42 Amniocentesis is currently considered the “gold standard” in prenatal genetic diagnosis due to its high accuracy and low failure rate.22 It is currently able to detect a wider range of fetal disorders than NIPT. The recommendation by a physician to pursue invasive testing, even if it results in the loss of the fetus, would be consistent with the current standard of care and would therefore likely fail to amount to negligence—assuming, of course, that it was offered for appropriate reasons and the consent process was properly executed. However, as part of obtaining informed consent, physicians have a duty to disclose risks, benefits, and possible alternatives to a procedure, and may therefore have a duty to disclose the availability of NIPT.43–45 Discussing alternatives is an essential element of disclosure, as patients cannot measure risk in the abstract, and must have some basis of comparison on which to make an informed decision.44 Specifically, non-invasive diagnostic options should be disclosed to patients before an invasive procedure is performed when the non-invasive tests
Physician Liability and Non-Invasive Prenatal Testing
could yield information relevant to a patient’s decision to consent to the procedure.45 The relevant legal test is whether a reasonable person in the patient’s circumstances would have consented to the procedure had all the relevant information been disclosed.44–46 This test requires consideration of what someone in the patient’s position would want to know, not simply what a physician finds relevant.45 Although NIPT is not yet a standard test, it is possible that a court would find that a reasonable person in a patient’s position would want to know about all possible screening and diagnostic options, particularly if she has expressed concerns about the specific disorders detectable by NIPT or the possibility of fetal loss associated with invasive testing. Indeed, some health care centres have made it a policy to discuss NIPT with all women at high risk who would be eligible for invasive testing,16 which may drive the uptake and expand the use of the test. However, if the duty to disclose does encompass the provision of information about NIPT, a failure to do so that results in fetal loss due to undergoing the more invasive procedures could attract liability. Conversely, it is necessary to examine potential liability issues should NIPT be recommended or ordered before it becomes the standard of care. It is expected that physicians will rely on the highest quality of evidence showing a benefit from a new test or procedure before discussing it with patients. When there are different levels of quality of evidence, physicians may wait for clinical guidelines to be published, or even better, for independent health technology assessment reports on NIPT to be produced. While recommending or performing a novel treatment is not necessarily negligent, it is imperative that the risks of such treatment and the alternatives are disclosed to the patient.44 To this end, the current limitations of NIPT need to be disclosed to patients to avoid false assurances being given to some women about the health of their fetuses3,5 and the potential for resulting wrongful birth and wrongful life claims. Wrongful Birth and Wrongful Life
Wrongful birth and wrongful life claims refer to legal claims arising from the birth of a child with a disorder or disability that, as a result of negligence on the part of a health care provider, was not detected or disclosed during pregnancy. Claims brought by parents in this situation have been termed wrongful birth claims, and are premised on the assertion that the pregnancy would have been terminated had full disclosure of the disorder or risk of disorder been made.47 Wrongful life claims are those brought by the resulting child and are premised on the assertion that without the negligent withholding of information to the
mother, the pregnancy would have been terminated and the plaintiff child would never have been born.48 In Canada, wrongful life claims have been consistently denied by the courts.48–51 These claims have been rejected for a number of reasons, including public policy considerations in recognizing that non-existence is preferable to being born with a disability, difficulty in calculating damages for having been born with a disability as opposed to not having been born at all, and the assertion that recognizing a duty owed to an unborn fetus to terminate its existence would conflict with the duty owed to the mother to recognize her right to choose whether to have an abortion.49 In contrast, wrongful birth claims are more widely accepted in Canada49,52–55 and abroad56 (Appendix 2). These claims are distinguished from wrongful life claims and are accepted on the basis that a physician owes a duty to a pregnant patient to inform her of all material risks to her fetus, which allows her to be fully informed in considering therapeutic abortion.54 Wrongful birth claims do not involve weighing the value of non-existence against life with a disability, but instead pertain to the disclosure and informed consent obligations relevant to reproductive decision-making. Damages are therefore less difficult to calculate, and typically consist of an award for nonpecuniary loss as well as the costs associated with raising a child with disabilities.55,57 As wrongful life claims are typically rejected on grounds of public policy and potentially conflicting duties, the development of more refined diagnostic and screening tools, such as NIPT, will not likely have an impact on these claims. However, the availability of NIPT could give rise to wrongful birth claims. Currently, wrongful birth claims have arisen as a result of inadequate disclosure of a mother’s increased risk of giving birth to a child with a disorder,54 inadequate disclosure of diagnostic tests that could have detected the relevant disorder,49 and a failure to interpret the results of such tests accurately.51 As NIPT can currently be used as a screening instrument, and may potentially be used as a diagnostic tool in the future, it could give rise to these same issues. Specifically, if NIPT eventually becomes the primary screening tool for genetic disorders and is available to the general population regardless of risk, the failure to offer it to patients would most likely amount to negligence if a child is then born with a detectable disorder. This is particularly relevant to the population of women at low risk who currently receive false-negative results using the conventional screening tools, which are less accurate than NIPT.32 Once solid data on test performance in women at OCTOBER JOGC OCTOBRE 2014 l 909
Commentary
low risk are available, the obligation to discuss NIPT will be especially important in this group of women for avoiding potential wrongful birth claims. Additionally, if NIPT is incorporated into the health care system as a concurrent test alongside the current screening and diagnostic tools, the issue of disclosure will also be important, as each test has its own drawbacks and benefits. In such a case, physicians will be responsible for providing sufficient information on the risks, accuracy, and limitations of each test, and patients will need to be able to make an informed decision.22,23 However, although discussion of NIPT may be required to fully inform patients about their prenatal testing options, providers should also be aware of the ethical implications of prenatal genetic testing. As the results of such tests give prospective parents the choice to terminate the pregnancy if genetic abnormalities are found, concerns have been raised about the potential routinization of NIPT and associated increase in the number of abortions that may occur on grounds of disability.9,58 Further, the concern has been raised that patients may be pressured into undergoing NIPT as a consequence of a physicians’ desire to avoid wrongful birth suits.59 It is therefore important that the implications and limitations of NIPT, as well as the availability of genetic counselling services, be thoroughly discussed with patients. Although there are significant demands on physicians’ time and limitations in terms of the training physicians receive in genetic counselling,60–63 it is important that physicians are aware of their disclosure obligations when discussing prenatal genetic screening and diagnosis. As NIPT is not currently recommended for use as a diagnostic test, any negative results obtained from NIPT should be communicated as being highly predictive but not definitive, and any positive results should be followed up by offering amniocentesis or chorionic villus sampling to provide a diagnosis.3,23 While it is uncertain how many women will opt to pursue invasive testing because of the increased risk of miscarriage and the relatively high accuracy of NIPT,3 it is essential from the standpoint of physician liability and informed consent that invasive testing continue to be offered (with appropriate disclosure of risks and benefits) until the data support the use of NIPT as a diagnostic test. Additionally, the very small number of disorders NIPT can currently detect must be made clear when explaining prenatal testing and diagnosis to ensure patients know that a negative NIPT result does not provide any information on genetic disorders or other abnormalities other than the small number covered by that test.3,31 910 l OCTOBER JOGC OCTOBRE 2014
As the uptake of NIPT continues to increase, other legal and ethical issues will also arise. For instance, there may be questions about disclosure obligations in cases involving patients and/or physicians with moral objections to abortion. In addition, the potential for NIPT to be used for non-medical purposes (e.g., sex selection) engages issues of public policy, patient autonomy, and potential provider liability if physicians refuse to offer NIPT on this basis and genetic disorders go undetected as a result. There are also privacy and disclosure questions when physicians treat multiple members of an extended family who learn of genetic disorders in one family member that could affect others (as in, for example, Liss v. Waters64). Further, as NIPT technology evolves to detect an increasing number of genetic abnormalities, questions will arise as to whether a legal and/or policy response is required to limit the amount of information prospective parents can obtain about their fetuses.65 These issues pose relevant questions for future research, and demonstrate the significant ethical and legal concerns surrounding this promising technology. CONCLUSION
Regardless of whether NIPT is offered before or after it becomes the standard of care, it is important for patients to understand what exactly NIPT can test for and that it is not, at the current time, reliable enough to be considered a diagnostic test. A failure to adequately communicate the current limitations of NIPT could result in false assurances to pregnant patients about the health of their fetuses, which could lead to liability in wrongful birth actions if disabilities are found to exist after birth. Additionally, as NIPT continues to develop, its limitations will likely change over time, and disclosing the availability of NIPT will become increasingly important if it becomes available to low-risk women who may have affected fetuses that would go undiagnosed under the current, less accurate screening process. ACKNOWLEDGEMENTS
The authors would like to thank Genome Canada, Genome Alberta, the Canadian Institutes for Health Research, and Alberta Health & Wellness for their generous support of PACEOMICS, and Genome Canada, Genome Quebec, Genome Alberta and the Canadian Institutes for Health Research for their generous support of PEGASUS, the projects under which this study was conducted. Also, we would like to thank our colleagues at the Health Law Institute, including Ubaka Obogu and Robyn Hyde-Lay, as well as Vardit Ravitsky and François Rousseau for helpful comments.
Physician Liability and Non-Invasive Prenatal Testing
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28. Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013;15(5):395–8. doi:10.1038/gim.2013.29.
14. Perinatal Services BC. Noninvasive prenatal testing (NIPT) availability in BC [Internet]. Vancouver (BC): Perinatal Services BC; 2014. Available at: http://www.perinatalservicesbc.ca/NR/rdonlyres/58AFCAE0–945E4ACB-8EC6–99CE2817128A/0/NIPTlistofoptionsupdated18 March2014.pdf. Accessed April 14, 2014.
29. Deans Z, Newson AJ. Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection. J Med Ethics 2012;38(10):614–8. doi:10.1136/medethics-2011–100180.
15. Early Prenatal Risk Assessment Program. Non-invasive prenatal testing (NIPT) [Internet]. Early Prenatal Risk Assessment Program. Available at: http://www.earlyriskassessment.com/Default.aspx?tabid=100. Accessed April 14, 2014. 16. Children’s Hospital of Eastern Ontario. Non-invasive prenatal testing for chromosome abnormalities [Internet]. Ottawa (ON): CHEO; 2014. Available at: http://www.cheo.on.ca/uploads/genetics/files/NIPT%20 info%20sheet%20for%20public%20and%200rdering%20providers%20-% 20CHEO%20Genetics%20-%20revised%20Feb%202014%20FINAL.pdf. Accessed April 14, 2014.
30. Smith M, Lewis KM, Holmes A, Visootsak J. A case of false negative NIPT for Down syndrome-lessons learned. Case Rep Genet 2014;2014:1–3. doi:10.1155/2014/823504. 31. Hui L, Hyett J. Noninvasive prenatal testing for trisomy 21: challenges for implementation in Australia. Aust N Z J Obstet Gynaecol 2013:53(5):416–24. doi:10.1111/aj0.12117. 32. Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370(9):799–808. doi:10.1056/NEJMoa1311037.
17. Children’s Hospital of Eastern Ontario. Frequently asked questions: non-invasive prenatal testing (NIPT) [Internet]. Ottawa (ON): CHEO, 2014. Available from: http://www.cheo.on.ca/en/NIPT. Accessed April 14, 2014.
33. Lau TK, Chan MK, Lo PS, Chan HY, Chan WS, Koo TY, et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test—early experience. J Matern Fetal Neonatal Med 2012;25(10):1856–9. doi:10.3109/14767058.2012.678442.
18. Borowski HZ, Brehaut J, Hailey D. Linking evidence from health technology assessments to policy and decision making: the Alberta Model. Int J Technol Assess Health Care 2007;23(02). doi:10.1017/S0266462307070250.
34. Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207(5):374.e1–374.e6. doi:10.1016/j.ajog.2012.08.033.
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35. Dan S, Wang W, Ren J, Li Y, Hu H, Xu Z, et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors: clinical application of sequencing-based prenatal noninvasive fetal trisomy test. Prenat Diagn 2012;32(13):1225–32. doi:10.1002/pd.4002. 36. Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies: implementation of maternal blood cfDNA screening for aneuploidies. Ultrasound Obstet Gynecol 2013;42(1):34–40. doi:10.1002/uog.12504.
51. Mickle v. Salvation Army Grace Hospital Windsor Ontario (1998), 166 D.L.R. (3d) 585 (ONSC). 52. Culp v. Ringrose (1976), 3 Med. Q. 72 (AB T.D.). 53. Doiron v. Orr (1978), 86 D.L.R. (3d) 719 (ON H.C.J.). 54. Arndt v. Smith, [1997] 2 S.C.R. 539 (SCC). 55. Krangle (Guardian Ad Litem of) v. Brisco (1997), 55 BCLR (3d) 23 (BCSC), aff ’d 2002 SCC 9, [2002] 1 SCR 205. 56. Nelson E. Law, policy and reproductive autonomy. Oxford: Hart Publishing Ltd.; 2013.
37. Crits v. Sylvester (1956), 1 DLR (2d) 502 (ONCA).
57. Jones et al. v. Rostvig, 2003 BCSC 1222, 17 C.C.L.T. (3d) 253.
38. Roe v. Dabbs, 2004 BCSC 957, 31 BCLR (4th) 158.
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39. Ediger (Guardian Ad Litem of) v. Johnston, 2009 BCSC 386, 65 CCLT (3d) 1, rev’d on other grounds, 2011 BCCA 253, 19 BCLR (5th) 60. 40. Revell v. Heartwell (2008), 193 A.C.W.S. (3d) 1002 (ON S.C.J), aff ’d 2010 ONCA 353, 266 O.A.C. 184. 41. Lapointe c. Hôpital Le Gardeur (1992), 90 D.L.R. (4th) 7 (SCC). 42. Koerber v. Kitchener-Waterloo Hospital (1987), 62 O.R. (2d) 613 (ONSC), para. 11, citing E. I. Picard, Legal Liability of Doctors and Hospitals in Canada, 2nd ed., (1984), at pp. 230–231. 43. Seney v. Crooks (1998), 223 A.R. 145 (ABCA). 44. Zimmer v. Ringrose, 1981 ABCA 60, 28 AR 69. 45. Cory v. Bass, 2012 ABCA 136, 522 A.R. 220. 46. Reibl v. Hughes, [1980] 2 SCR 880 (SCC). 47. Paxton v. Ramji, 2008 ONCA 697, 92 O.R. (3d) 401. 48. Lacroix (Litigation Guardian of) v. Dominique (1999), 141 Man. R. (2d) 1 (MBQB), aff ’d (2001), 156 Man. R. (2d) 262 (MBCA), leave to appeal denied (2001), 163 Man. R. (2d) 247 (SCC). 49. Jones (Guardian ad litem of) v. Rostvig (1999), 44 C.C.L.T. (2d) 313 (BCSC). 50. Patmore (Guardian ad litem of) v. Weatherston (1999), 86 A.C.W.S. (3d) 981 (BCSC).
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59. Chachkin CJ. What potent blood: non-invasive prenatal genetic diagnosis and the transformation of modern prenatal care. Am J Law Med 2007;33(1):9–53. 60. Metcalfe S, Seipolt M, Aitken M, Flouris A. Educating general practitioners about prenatal testing approaches and challenges. Prenat Diagn 2005;25:592–601. 61. Selkirk CG, Weissman SM, Anderson A, Hulick PJ. Physicians’ preparedness for integration of genomic and pharmacogenetic testing into practice within a major healthcare system. Genet Test Mol Biomarkers 2013;17(3):219–25. 62. Dhar SU, Alford RL, Nelson EA, Potocki, L. Enhancing exposure to genetics and genomics through an innovative medical school curriculum. Genet Med 2012;14:163–7. 63. Carroll JC, Wilson BJ, Allanson J, Grimshaw J, Blaine SM, Meschino WS, et al. GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians. Fam Pract 2011;28(6):615–23. 64. Liss v. Watters, 2010 QCCS 3309, 191 A.C.W.S. (3d) 301, rev’d in part, 2012 QCCA 257, 220 A.C.W.S. (3d) 430. 65. Caulfield T. Easy test. Tough answers. Policy Options 2014;8–9. Available at: http://policyoptions.irpp.org/wp-content/uploads/sites/ 2/assets/po/opening-eyes/caulfield.pdf. Accessed July 25, 2014.
Physician Liability and Non-Invasive Prenatal Testing
APPENDIX 1. POSITIONS OF PROFESSIONAL BODIES ON THE USE OF NIPT Society of Obstetricians and Gynaecologists of Canada24
“Non-invasive prenatal testing… should be an option available to women at increased risk in lieu of amniocentesis” “No irrevocable obstetrical decision should be made in pregnancies with a positive non-invasive prenatal testing result without confirmatory invasive diagnostic testing” “Studies in average-risk pregnancies and a significant reduction in the cost of the technology are needed before this can replace the current maternal screening approach…” American College of Obstetricians and Gynecologists, with the Society for Maternal–Fetal Medicine25
“[ACOG] has recommended that women, regardless of maternal age, be offered prenatal assessment for aneuploidy either by screening or invasive prenatal diagnosis regardless of maternal age; cell free fetal DNA is one option that can be used as a primary screening test in women at increased risk of aneuploidy” International Society of Prenatal Diagnosis26
“Maternal cfDNA screening is an emerging technology that can provide highly effective prenatal screening for Down syndrome, trisomy 18, and possibly trisomy 13 in high risk women. It is not a replacement for the analysis of amniotic fluid cells or CVS.” National Society of Genetic Counselors27
NSGC supports NIPT “as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities.” “Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.” American College of Medical Genetics and Genomics28
NIPT is “a screening test to identify pregnancies at risk for common autosomal aneuploidies” “For women seeking a definitive diagnosis, invasive procedures for diagnostic testing, such as amniocentesis or chorionic villus sampling, should be offered” “maternal serum α-fetoprotein testing should still be offered at 15-20 weeks gestation to screen for open neural tube defects even when [NIPT] is performed”
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APPENDIX 2. CANADIAN CASE LAW ON WRONGFUL BIRTH Arndt v. Smith, 1997 (Supreme Court of Canada)54: A wrongful birth claim was brought because of a failure to advise the mother of an increased risk to the fetus as a result of her contraction of chicken pox during pregnancy. The claim was ultimately dismissed at the Supreme Court on the basis that a reasonable person in the plaintiff’s position would have carried her pregnancy to term even if the risks had been disclosed to her. Mickle v. Salvation Army Grace Hospital Windsor Ontario, 1998 (ON Supreme Court)51: A wrongful birth claim was brought as a result of the failure to detect an abnormality in the fetus during an ultrasound. The claim was dismissed as the defendants were found to have met the standard of care. Jones (Guardian ad litem of) v. Rostvig, 1999 (B.C. Supreme Court)49: A wrongful birth claim was recognized for the failure to advise the mother of the risks of Down syndrome and the possibility of undergoing amniocentesis. Lacroix (Litigation Guardian of) v. Dominique, 1999 (MB Court of Appeal)48: A wrongful birth claim was recognized as a result of a failure to advise the parents of a risk to the fetus from taking epilepsy medication during pregnancy (though the claim was found to be statute barred under limitations legislation). Patmore (Guardian ad litem of) v. Weatherston, 1999 (B.C. Supreme Court)50: A wrongful birth claim was brought as a result of a failure of a physician to order an ultrasound, which would have been able to detect spina bifida. The claim was dismissed as the plaintiff did not return to see the physician in time to obtain the standard ultrasound, and it may have been too late for her to have terminated her pregnancy at that point in any event. Krangle (Guardian Ad Litem of) v. Brisco, 1997 (B.C. Supreme Court)55: A wrongful birth claim was recognized for the failure to advise the mother of the availability of testing for Down syndrome. Liss v. Watters, 2010 (QC Superior Court)64: A wrongful birth claim arose from the failure of a physician to warn the mother of the hereditary nature of her first son’s disorder before the birth of her second son, who was also born with the disorder; however, her claim was dismissed as it exceeded the relevant limitations period and in any event, the court found she would not have acted any differently with regard to her subsequent pregnancy even if she had been fully informed of the risk that her son would be born with a disability.
914 l OCTOBER JOGC OCTOBRE 2014
Physician Liability and Non-Invasive Prenatal Testing Maeghan Toews, LLM,1 Timothy Caulfield, LLM, FRSC1,2 Health Law Institute, Faculty of Law, University of Alberta, Edmonton AB
1
School of Public Health, University of Alberta, Edmonton AB
2
Abstract Although non-invasive prenatal testing (NIPT) marks a notable development in the field of prenatal genetic testing, there are some physician liability considerations raised by this technology. As NIPT is still emerging as the standard of care and is just starting to receive provincial funding, the question arises of whether physicians are obligated to disclose the availability of NIPT to eligible patients as part of the physician–patient discussion about prenatal screening and diagnosis. If NIPT is discussed with patients, it is important to disclose the limitations of this technology with respect to its accuracy and the number of disorders that it can detect when compared with invasive diagnostic options. A failure to sufficiently disclose these limitations could leave patients with false assurances about the health of their fetuses and could raise informed consent and liability issues, particularly if a child is born with a disability as a result.
Résumé Bien que le dépistage prénatal non effractif (DPNE) constitue une innovation importante dans le domaine du dépistage génétique prénatal, la technologie qui la sous-tend soulève certains facteurs à prendre en considération en ce qui a trait à la responsabilité des médecins. Compte tenu que le DPNE cherche toujours à faire sa place à titre de norme de diligence et qu’il commence tout juste à bénéficier d’un financement provincial, nous faisons face à la question de savoir si les médecins ont l’obligation de divulguer la disponibilité du DPNE aux patientes admissibles dans le cadre des discussions médecin-patiente au sujet du dépistage / diagnostic prénatal. Lorsque l’on discute du DPNE avec les patientes, il est important d’en divulguer les limites en ce qui a trait à sa précision et au nombre des troubles dont il permet la détection, par comparaison avec les options diagnostiques effractives. Lorsque l’on ne déploie pas suffisamment d’efforts pour divulguer ces limites, les patientes pourraient se trouver faussement rassurées au sujet de la santé de leur fœtus; une telle situation pourrait également soulever des questions de consentement éclairé et de responsabilité, particulièrement dans les cas où la grossesse en question se solde par la naissance d’un enfant présentant une déficience. Key Words: Non-invasive prenatal testing, provider liability, disclosure obligations Competing Interests: None declared. Received April 22, 2014 Accepted June 20, 2014
INTRODUCTION
T
he advancement of non-invasive prenatal testing (NIPT) and its introduction into the health care sector has been portrayed as a revolutionary, paradigm-shifting development that will fundamentally alter the current framework of prenatal treatment.1–4 The excitement surrounding the development of this technology is due to its non-invasive nature, its potentially high level of accuracy in detecting Down syndrome and other aneuploidies, and its ability to be employed at a relatively early point during pregnancy.3,5 Proponents of NIPT aim for it to become the universal standard of care for prenatal genetic screening, available to all pregnant women, with the benefit of reducing the number of fetal losses associated with more invasive procedures.6–8 However, NIPT has also raised ethical concerns such as its effect on the disability community and potential use for sex selection,9–13 as well as legal concerns for physicians providing prenatal care. In Canada, NIPT is currently available in the private sector to pregnant women at high risk14–16 and is beginning to receive provincial funding.17 In deciding whether to fund emerging health technologies, provinces engage in health technology assessments to determine whether the technology will be clinically beneficial and economically feasible.18,19 Whether or not NIPT is incorporated into the current publicly funded prenatal genetic screening and diagnostic options throughout Canada will depend on several factors, including the performance of NIPT in women with a low a priori risk of having a fetus with aneuploidy, patient views and demand,5,20 ease of integration into current practices,5,21 the views of health care providers,21 cost-effectiveness,8 and the recommendations of the major professional bodies overseeing obstetricians, gynaecologists, and medical geneticists.3,20,22,23 J Obstet Gynaecol Can 2014;36(10):907–914
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The Society of Obstetricians and Gynaecologists of Canada, the American College of Obstetricians and Gynecologists, the International Society of Prenatal Diagnosis, the National Society of Genetic Counselors, and the American College of Medical Genetics and Genomics currently recommend that NIPT be used as a screening tool for women at high risk of having a baby with the specific disorders that NIPT can detect.24–28 Relevant risk factors include maternal age, medical and family histories, and results of other prenatal screening tests such as integrated prenatal screening, first trimester combined screening, or maternal serum screening.11,20 Because NIPT is currently less accurate29,30 and detects a more limited range of disorders than the invasive diagnostic tests,3,29,31 these professional organizations continue to recommend that chorionic villus sampling or amniocentesis be used to confirm positive NIPT results24–28 (Appendix 1). Further, NIPT is not currently recommended for women at low risk of carrying an affected fetus,24–28 although evidence demonstrating the effectiveness of NIPT in the general population is emerging.22,31–36 As a result, NIPT remains largely viewed as a highly accurate screening tool rather than a diagnostic test.3,20,22,23,31 As a screening tool, NIPT could be used as a second-tier screen for women at high risk (or eventually as the primary test for the general population), or in conjunction with the ultrasound testing currently available to ensure structural abnormalities undetectable through genetic testing are identified.5,23,29,31 Depending on how NIPT is integrated into the current prenatal screening and diagnostic framework, and whether it does in fact become the standard of care, different legal issues could arise. Specifically, physician liability issues may emerge if physicians fail to inform their patients of the availability of NIPT or fail to disclose its current limitations. It is therefore of vital importance that physicians have complete information from high quality and independent sources about the availability, effectiveness, and implications of this novel form of testing so that they can effectively communicate this information to their patients. LIABILITY IMPLICATIONS OF NIPT FOR PHYSICIANS
Physicians have a legal obligation to treat their patients with the level of skill and care that a reasonable practitioner with the same level of experience would exercise, and a higher degree of skill and care is required of specialists.37,38 Incorporated in this duty of care is the duty to obtain informed consent.39 To this end, physicians must “disclose the material, special or unusual risks that a reasonable 908 l OCTOBER JOGC OCTOBRE 2014
person in the patient’s position would want to know.”40 The extent to which NIPT will affect the standard of care or level of disclosure by physicians is therefore a relevant consideration. NIPT Under the Current Treatment Standards
In most provinces, NIPT is not currently a publicly funded test. Some provincial programs will provide funding support under specific circumstances, such as when the criteria for out-of-country health services are satisfied.17 Regardless, this is a technology that is commercially available to pregnant women. As its status in forming part of the standard of care is still emerging, questions about the legal implications of physicians’ screening and diagnostic recommendations arise. It is clear that the recommendation to pursue invasive diagnosis over NIPT would not, at present, amount to negligence, despite the risk of fetal loss associated with the more invasive procedures. The Supreme Court of Canada has recognized that “a doctor will not be found liable if the diagnosis and treatment given to a patient correspond to those recognized by medical science at the time, even in the face of competing theories.”41 However, should NIPT become the standard of care for prenatal diagnosis in the future, replacing amniocentesis and chorionic villus sampling under the current framework, physicians could be found negligent if they continue to rely on the more invasive procedures and fetal loss occurs as a result. As the standard of care can change over time, it is the standard in place at the time the alleged negligence occurs that will be used to judge the physician’s conduct, and physicians must therefore “keep pace with advances in medical science.”42 Amniocentesis is currently considered the “gold standard” in prenatal genetic diagnosis due to its high accuracy and low failure rate.22 It is currently able to detect a wider range of fetal disorders than NIPT. The recommendation by a physician to pursue invasive testing, even if it results in the loss of the fetus, would be consistent with the current standard of care and would therefore likely fail to amount to negligence—assuming, of course, that it was offered for appropriate reasons and the consent process was properly executed. However, as part of obtaining informed consent, physicians have a duty to disclose risks, benefits, and possible alternatives to a procedure, and may therefore have a duty to disclose the availability of NIPT.43–45 Discussing alternatives is an essential element of disclosure, as patients cannot measure risk in the abstract, and must have some basis of comparison on which to make an informed decision.44 Specifically, non-invasive diagnostic options should be disclosed to patients before an invasive procedure is performed when the non-invasive tests
Physician Liability and Non-Invasive Prenatal Testing
could yield information relevant to a patient’s decision to consent to the procedure.45 The relevant legal test is whether a reasonable person in the patient’s circumstances would have consented to the procedure had all the relevant information been disclosed.44–46 This test requires consideration of what someone in the patient’s position would want to know, not simply what a physician finds relevant.45 Although NIPT is not yet a standard test, it is possible that a court would find that a reasonable person in a patient’s position would want to know about all possible screening and diagnostic options, particularly if she has expressed concerns about the specific disorders detectable by NIPT or the possibility of fetal loss associated with invasive testing. Indeed, some health care centres have made it a policy to discuss NIPT with all women at high risk who would be eligible for invasive testing,16 which may drive the uptake and expand the use of the test. However, if the duty to disclose does encompass the provision of information about NIPT, a failure to do so that results in fetal loss due to undergoing the more invasive procedures could attract liability. Conversely, it is necessary to examine potential liability issues should NIPT be recommended or ordered before it becomes the standard of care. It is expected that physicians will rely on the highest quality of evidence showing a benefit from a new test or procedure before discussing it with patients. When there are different levels of quality of evidence, physicians may wait for clinical guidelines to be published, or even better, for independent health technology assessment reports on NIPT to be produced. While recommending or performing a novel treatment is not necessarily negligent, it is imperative that the risks of such treatment and the alternatives are disclosed to the patient.44 To this end, the current limitations of NIPT need to be disclosed to patients to avoid false assurances being given to some women about the health of their fetuses3,5 and the potential for resulting wrongful birth and wrongful life claims. Wrongful Birth and Wrongful Life
Wrongful birth and wrongful life claims refer to legal claims arising from the birth of a child with a disorder or disability that, as a result of negligence on the part of a health care provider, was not detected or disclosed during pregnancy. Claims brought by parents in this situation have been termed wrongful birth claims, and are premised on the assertion that the pregnancy would have been terminated had full disclosure of the disorder or risk of disorder been made.47 Wrongful life claims are those brought by the resulting child and are premised on the assertion that without the negligent withholding of information to the
mother, the pregnancy would have been terminated and the plaintiff child would never have been born.48 In Canada, wrongful life claims have been consistently denied by the courts.48–51 These claims have been rejected for a number of reasons, including public policy considerations in recognizing that non-existence is preferable to being born with a disability, difficulty in calculating damages for having been born with a disability as opposed to not having been born at all, and the assertion that recognizing a duty owed to an unborn fetus to terminate its existence would conflict with the duty owed to the mother to recognize her right to choose whether to have an abortion.49 In contrast, wrongful birth claims are more widely accepted in Canada49,52–55 and abroad56 (Appendix 2). These claims are distinguished from wrongful life claims and are accepted on the basis that a physician owes a duty to a pregnant patient to inform her of all material risks to her fetus, which allows her to be fully informed in considering therapeutic abortion.54 Wrongful birth claims do not involve weighing the value of non-existence against life with a disability, but instead pertain to the disclosure and informed consent obligations relevant to reproductive decision-making. Damages are therefore less difficult to calculate, and typically consist of an award for nonpecuniary loss as well as the costs associated with raising a child with disabilities.55,57 As wrongful life claims are typically rejected on grounds of public policy and potentially conflicting duties, the development of more refined diagnostic and screening tools, such as NIPT, will not likely have an impact on these claims. However, the availability of NIPT could give rise to wrongful birth claims. Currently, wrongful birth claims have arisen as a result of inadequate disclosure of a mother’s increased risk of giving birth to a child with a disorder,54 inadequate disclosure of diagnostic tests that could have detected the relevant disorder,49 and a failure to interpret the results of such tests accurately.51 As NIPT can currently be used as a screening instrument, and may potentially be used as a diagnostic tool in the future, it could give rise to these same issues. Specifically, if NIPT eventually becomes the primary screening tool for genetic disorders and is available to the general population regardless of risk, the failure to offer it to patients would most likely amount to negligence if a child is then born with a detectable disorder. This is particularly relevant to the population of women at low risk who currently receive false-negative results using the conventional screening tools, which are less accurate than NIPT.32 Once solid data on test performance in women at OCTOBER JOGC OCTOBRE 2014 l 909
Commentary
low risk are available, the obligation to discuss NIPT will be especially important in this group of women for avoiding potential wrongful birth claims. Additionally, if NIPT is incorporated into the health care system as a concurrent test alongside the current screening and diagnostic tools, the issue of disclosure will also be important, as each test has its own drawbacks and benefits. In such a case, physicians will be responsible for providing sufficient information on the risks, accuracy, and limitations of each test, and patients will need to be able to make an informed decision.22,23 However, although discussion of NIPT may be required to fully inform patients about their prenatal testing options, providers should also be aware of the ethical implications of prenatal genetic testing. As the results of such tests give prospective parents the choice to terminate the pregnancy if genetic abnormalities are found, concerns have been raised about the potential routinization of NIPT and associated increase in the number of abortions that may occur on grounds of disability.9,58 Further, the concern has been raised that patients may be pressured into undergoing NIPT as a consequence of a physicians’ desire to avoid wrongful birth suits.59 It is therefore important that the implications and limitations of NIPT, as well as the availability of genetic counselling services, be thoroughly discussed with patients. Although there are significant demands on physicians’ time and limitations in terms of the training physicians receive in genetic counselling,60–63 it is important that physicians are aware of their disclosure obligations when discussing prenatal genetic screening and diagnosis. As NIPT is not currently recommended for use as a diagnostic test, any negative results obtained from NIPT should be communicated as being highly predictive but not definitive, and any positive results should be followed up by offering amniocentesis or chorionic villus sampling to provide a diagnosis.3,23 While it is uncertain how many women will opt to pursue invasive testing because of the increased risk of miscarriage and the relatively high accuracy of NIPT,3 it is essential from the standpoint of physician liability and informed consent that invasive testing continue to be offered (with appropriate disclosure of risks and benefits) until the data support the use of NIPT as a diagnostic test. Additionally, the very small number of disorders NIPT can currently detect must be made clear when explaining prenatal testing and diagnosis to ensure patients know that a negative NIPT result does not provide any information on genetic disorders or other abnormalities other than the small number covered by that test.3,31 910 l OCTOBER JOGC OCTOBRE 2014
As the uptake of NIPT continues to increase, other legal and ethical issues will also arise. For instance, there may be questions about disclosure obligations in cases involving patients and/or physicians with moral objections to abortion. In addition, the potential for NIPT to be used for non-medical purposes (e.g., sex selection) engages issues of public policy, patient autonomy, and potential provider liability if physicians refuse to offer NIPT on this basis and genetic disorders go undetected as a result. There are also privacy and disclosure questions when physicians treat multiple members of an extended family who learn of genetic disorders in one family member that could affect others (as in, for example, Liss v. Waters64). Further, as NIPT technology evolves to detect an increasing number of genetic abnormalities, questions will arise as to whether a legal and/or policy response is required to limit the amount of information prospective parents can obtain about their fetuses.65 These issues pose relevant questions for future research, and demonstrate the significant ethical and legal concerns surrounding this promising technology. CONCLUSION
Regardless of whether NIPT is offered before or after it becomes the standard of care, it is important for patients to understand what exactly NIPT can test for and that it is not, at the current time, reliable enough to be considered a diagnostic test. A failure to adequately communicate the current limitations of NIPT could result in false assurances to pregnant patients about the health of their fetuses, which could lead to liability in wrongful birth actions if disabilities are found to exist after birth. Additionally, as NIPT continues to develop, its limitations will likely change over time, and disclosing the availability of NIPT will become increasingly important if it becomes available to low-risk women who may have affected fetuses that would go undiagnosed under the current, less accurate screening process. ACKNOWLEDGEMENTS
The authors would like to thank Genome Canada, Genome Alberta, the Canadian Institutes for Health Research, and Alberta Health & Wellness for their generous support of PACEOMICS, and Genome Canada, Genome Quebec, Genome Alberta and the Canadian Institutes for Health Research for their generous support of PEGASUS, the projects under which this study was conducted. Also, we would like to thank our colleagues at the Health Law Institute, including Ubaka Obogu and Robyn Hyde-Lay, as well as Vardit Ravitsky and François Rousseau for helpful comments.
Physician Liability and Non-Invasive Prenatal Testing
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38. Roe v. Dabbs, 2004 BCSC 957, 31 BCLR (4th) 158.
58. Newson AJ. Ethical aspects arising from non-invasive fetal diagnosis. Semin Fetal Neonatal Med 2008;13(2):103–8. doi:10.1016/j.siny.2007.12.004.
39. Ediger (Guardian Ad Litem of) v. Johnston, 2009 BCSC 386, 65 CCLT (3d) 1, rev’d on other grounds, 2011 BCCA 253, 19 BCLR (5th) 60. 40. Revell v. Heartwell (2008), 193 A.C.W.S. (3d) 1002 (ON S.C.J), aff ’d 2010 ONCA 353, 266 O.A.C. 184. 41. Lapointe c. Hôpital Le Gardeur (1992), 90 D.L.R. (4th) 7 (SCC). 42. Koerber v. Kitchener-Waterloo Hospital (1987), 62 O.R. (2d) 613 (ONSC), para. 11, citing E. I. Picard, Legal Liability of Doctors and Hospitals in Canada, 2nd ed., (1984), at pp. 230–231. 43. Seney v. Crooks (1998), 223 A.R. 145 (ABCA). 44. Zimmer v. Ringrose, 1981 ABCA 60, 28 AR 69. 45. Cory v. Bass, 2012 ABCA 136, 522 A.R. 220. 46. Reibl v. Hughes, [1980] 2 SCR 880 (SCC). 47. Paxton v. Ramji, 2008 ONCA 697, 92 O.R. (3d) 401. 48. Lacroix (Litigation Guardian of) v. Dominique (1999), 141 Man. R. (2d) 1 (MBQB), aff ’d (2001), 156 Man. R. (2d) 262 (MBCA), leave to appeal denied (2001), 163 Man. R. (2d) 247 (SCC). 49. Jones (Guardian ad litem of) v. Rostvig (1999), 44 C.C.L.T. (2d) 313 (BCSC). 50. Patmore (Guardian ad litem of) v. Weatherston (1999), 86 A.C.W.S. (3d) 981 (BCSC).
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59. Chachkin CJ. What potent blood: non-invasive prenatal genetic diagnosis and the transformation of modern prenatal care. Am J Law Med 2007;33(1):9–53. 60. Metcalfe S, Seipolt M, Aitken M, Flouris A. Educating general practitioners about prenatal testing approaches and challenges. Prenat Diagn 2005;25:592–601. 61. Selkirk CG, Weissman SM, Anderson A, Hulick PJ. Physicians’ preparedness for integration of genomic and pharmacogenetic testing into practice within a major healthcare system. Genet Test Mol Biomarkers 2013;17(3):219–25. 62. Dhar SU, Alford RL, Nelson EA, Potocki, L. Enhancing exposure to genetics and genomics through an innovative medical school curriculum. Genet Med 2012;14:163–7. 63. Carroll JC, Wilson BJ, Allanson J, Grimshaw J, Blaine SM, Meschino WS, et al. GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians. Fam Pract 2011;28(6):615–23. 64. Liss v. Watters, 2010 QCCS 3309, 191 A.C.W.S. (3d) 301, rev’d in part, 2012 QCCA 257, 220 A.C.W.S. (3d) 430. 65. Caulfield T. Easy test. Tough answers. Policy Options 2014;8–9. Available at: http://policyoptions.irpp.org/wp-content/uploads/sites/ 2/assets/po/opening-eyes/caulfield.pdf. Accessed July 25, 2014.
Physician Liability and Non-Invasive Prenatal Testing
APPENDIX 1. POSITIONS OF PROFESSIONAL BODIES ON THE USE OF NIPT Society of Obstetricians and Gynaecologists of Canada24
“Non-invasive prenatal testing… should be an option available to women at increased risk in lieu of amniocentesis” “No irrevocable obstetrical decision should be made in pregnancies with a positive non-invasive prenatal testing result without confirmatory invasive diagnostic testing” “Studies in average-risk pregnancies and a significant reduction in the cost of the technology are needed before this can replace the current maternal screening approach…” American College of Obstetricians and Gynecologists, with the Society for Maternal–Fetal Medicine25
“[ACOG] has recommended that women, regardless of maternal age, be offered prenatal assessment for aneuploidy either by screening or invasive prenatal diagnosis regardless of maternal age; cell free fetal DNA is one option that can be used as a primary screening test in women at increased risk of aneuploidy” International Society of Prenatal Diagnosis26
“Maternal cfDNA screening is an emerging technology that can provide highly effective prenatal screening for Down syndrome, trisomy 18, and possibly trisomy 13 in high risk women. It is not a replacement for the analysis of amniotic fluid cells or CVS.” National Society of Genetic Counselors27
NSGC supports NIPT “as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities.” “Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.” American College of Medical Genetics and Genomics28
NIPT is “a screening test to identify pregnancies at risk for common autosomal aneuploidies” “For women seeking a definitive diagnosis, invasive procedures for diagnostic testing, such as amniocentesis or chorionic villus sampling, should be offered” “maternal serum α-fetoprotein testing should still be offered at 15-20 weeks gestation to screen for open neural tube defects even when [NIPT] is performed”
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Commentary
APPENDIX 2. CANADIAN CASE LAW ON WRONGFUL BIRTH Arndt v. Smith, 1997 (Supreme Court of Canada)54: A wrongful birth claim was brought because of a failure to advise the mother of an increased risk to the fetus as a result of her contraction of chicken pox during pregnancy. The claim was ultimately dismissed at the Supreme Court on the basis that a reasonable person in the plaintiff’s position would have carried her pregnancy to term even if the risks had been disclosed to her. Mickle v. Salvation Army Grace Hospital Windsor Ontario, 1998 (ON Supreme Court)51: A wrongful birth claim was brought as a result of the failure to detect an abnormality in the fetus during an ultrasound. The claim was dismissed as the defendants were found to have met the standard of care. Jones (Guardian ad litem of) v. Rostvig, 1999 (B.C. Supreme Court)49: A wrongful birth claim was recognized for the failure to advise the mother of the risks of Down syndrome and the possibility of undergoing amniocentesis. Lacroix (Litigation Guardian of) v. Dominique, 1999 (MB Court of Appeal)48: A wrongful birth claim was recognized as a result of a failure to advise the parents of a risk to the fetus from taking epilepsy medication during pregnancy (though the claim was found to be statute barred under limitations legislation). Patmore (Guardian ad litem of) v. Weatherston, 1999 (B.C. Supreme Court)50: A wrongful birth claim was brought as a result of a failure of a physician to order an ultrasound, which would have been able to detect spina bifida. The claim was dismissed as the plaintiff did not return to see the physician in time to obtain the standard ultrasound, and it may have been too late for her to have terminated her pregnancy at that point in any event. Krangle (Guardian Ad Litem of) v. Brisco, 1997 (B.C. Supreme Court)55: A wrongful birth claim was recognized for the failure to advise the mother of the availability of testing for Down syndrome. Liss v. Watters, 2010 (QC Superior Court)64: A wrongful birth claim arose from the failure of a physician to warn the mother of the hereditary nature of her first son’s disorder before the birth of her second son, who was also born with the disorder; however, her claim was dismissed as it exceeded the relevant limitations period and in any event, the court found she would not have acted any differently with regard to her subsequent pregnancy even if she had been fully informed of the risk that her son would be born with a disability.
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