The PREPARE Study

The guiding question of the PREPARE study is: What helps parents prepare for the birth of a child with a genetic condition? And the answer is: we just don’t know for sure. Surprisingly, given how often we talk about prenatal testing as giving parents information that will help them prepare, there are simply no studies that show that this makes a tangible difference for kids or their families. More importantly, we can’t even test the hypothesis that preparation helps, because almost no one has tried to figure out precisely what we mean by “preparation.”

However, many scholars writing about prenatal testing either claim that prenatal testing helps parents prepare, or say that “preparation” is a reason why doctors offer prenatal testing. Just how many? In researching this topic, we’ve found at least 81 articles that fit this description, though there are likely many more. Here are the titles, for your perusal.

1. Deans Z, Clarke AJ, Newson AJ. For Your Interest? The Ethical Acceptability of Using Non-Invasive Prenatal Testing to Test ‘Purely for Information’. Bioethics 2015;29:19-25.
2. Floyd E, Allyse MA, Michie M. Spanish- and English-Speaking Pregnant Women’s Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections. J Genet Couns 2016;25:965-77.
3. Griffiths C, Kuppermann M. Perceptions of Prenatal Testing for Birth Defects among Rural Latinas. Maternal and Child Health Journal 2008;12:34-42.
4. Hill M, Suri R, Nash E, Morris S, Chitty L. Preferences for Prenatal Tests for Cystic Fibrosis: A Discrete Choice Experiment to Compare the Views of Adult Patients, Carriers of Cystic Fibrosis and Health Professionals. J Clin Med 2014;3:176-90.
5. Hurford E, Hawkins A, Hudgins L, Taylor J. The decision to continue a pregnancy affected by Down syndrome: timing of decision and satisfaction with receiving a prenatal diagnosis. J Genet Couns 2013;22:587-93.
6. Statham H, Solomou W, Chitty L. Prenatal diagnosis of fetal abnormality: psychological effects on women in low-risk pregnancies. Baillieres Best Pract Res Clin Obstet Gynaecol 2000;14:731-47.
7. Yu JP. A systematic review of issues around antenatal screening and prenatal diagnostic testing for genetic disorders: women of Asian origin in western countries. Health & Social Care in the Community 2012;20:329-46.
8. Yurkiewicz IR, Korf BR, Lehmann LS. Prenatal Whole-Genome Sequencing — Is the Quest to Know a Fetus’s Future Ethical? N Engl J Med 2014;370:195-7.
9. Zeng X, Zannoni L, Löwy I, Camporesi S. Localizing NIPT: Practices and meanings of non-invasive prenatal testing in China, Italy, Brazil and the UK. Ethics, Medicine and Public Health 2016;2:392-401.
10. Allyse M, Sayres LC, Goodspeed T, Michie M, Cho MK. “Don’t Want No Risk and Don’t Want No Problems”: Public Understandings of the Risks and Benefits of Noninvasive Prenatal Testing in the United States. AJOB Empirical Bioethics 2015;6:5-20.
11. Browner CH, Mabel Preloran H, Casado MC, Bass HN, Walker AP. Genetic counseling gone awry: miscommunication between prenatal genetic service providers and Mexican-origin clients. Soc Sci Med 2003;56:1933-46.
12. Bryant LD, Green JM, Hewison J. The role of attitudes towards the targets of behaviour in predicting and informing prenatal testing choices. Psychol Health 2010;25:1175-94.
13. Chen EA, Schiffman JF. Attitudes Toward Genetic Counseling and Prenatal Diagnosis Among a Group of Individuals with Physical Disabilities. Journal of Genetic Counseling 2000;9:137-52.
14. Choi H, Van Riper M, Thoyre S. Decision Making Following a Prenatal Diagnosis of Down Syndrome: An Integrative Review. Journal of Midwifery & Women’s Health 2012;57:156-64.
15. Dickens BM. Ethical and legal aspects of noninvasive prenatal genetic diagnosis. International Journal of Gynecology & Obstetrics 2014;124:181-4.
16. Dixon DP. Informed consent or institutionalized eugenics? How the medical profession encourages abortion of fetuses with down syndrome. Issues Law Med 2008;24:3-59.
17. Dondorp W, van Lith J. Dynamics of Prenatal Screening: New Developments Challenging the Ethical Framework. Bioethics 2015;29:ii-iv.
18. Farrell R, Mercer M, Agatisa P, Smith M, Philipson E. It’s More Than a Blood Test: Patients’ Perspectives on Noninvasive Prenatal Testing. J Clin Med 2014;3:614-31.
19. Durand MA, Stiel M, Boivin J, Elwyn G. Information and decision support needs of parents considering amniocentesis: interviews with pregnant women and health professionals. Health Expect 2010;13:125-38.
20. Bryant L, Hewison JD, Green JM. Attitudes towards prenatal diagnosis and termination in women who have a sibling with Down’s syndrome. J Reprod Infant Psychol 2005;23:181-98.
21. Lewis C, Hill M, Chitty LS. Non-invasive prenatal diagnosis for single gene disorders: experience of patients. Clin Genet 2014;85:336-42.
22. Lewis C, Silcock C, Chitty LS. Non-Invasive Prenatal Testing for Down’s Syndrome: Pregnant Women’s Views and Likely Uptake. Public Health Genomics 2013;16:223-32.
23. Press N, Browner CH. Why women say yes to prenatal diagnosis. Soc Sci Med 1997;45:979-89.
24. van Schendel RV, Dondorp WJ, Timmermans DRM, et al. NIPT-based screening for Down syndrome and beyond: what do pregnant women think? Prenat Diagn 2015;35:598-604.
25. Edwards JG, Ferrante RR. Toward Concurrence: Understanding Prenatal Screening and Diagnosis of Down Syndrome from the Health Professional and Advocacy Community Perspectives. 2009.
26. Eisenberg VH, Schenker JJ. The moral aspects of prenatal diagnosis. European Journal of Obstetrics & Gynecology and Reproductive Biology 1997;72:35-45.
27. Etchegary H, Potter B, Howley H, et al. The influence of experiential knowledge on prenatal screening and testing decisions. Genetic Testing 2008;12:115-24.
28. Farrell RM, Agatisa PK, Mercer MB, Smith MB, Philipson E. Balancing Risks: The Core of Women’s Decisions About Noninvasive Prenatal Testing. AJOB Empirical Bioethics 2015;6:42-53.
29. Farrelly E, Cho MK, Erby L, Roter D, Stenzel A, Ormond K. Genetic counseling for prenatal testing: where is the discussion about disability? J Genet Couns 2012;21:814-24.
30. Fonda Allen JS, Mulhauser LC. Genetic counseling after abnormal prenatal diagnosis: Facilitating coping in families who continue their pregnancies. Journal of Genetic Counseling 1995;4:251-65.
31. Fransen MP, Wildschut HIJ, Vogel I, Mackenbach JP, Steegers EAP, Essink-Bot ML. Ethnic differences in considerations whether or not to participate in prenatal screening for Down syndrome. Prenat Diagn 2009;29:1262-9.
32. García E, Timmermans DRM, van Leeuwen E. Parental duties and prenatal screening: Does an offer of prenatal screening lead women to believe that they are morally compelled to test? Midwifery 2012;28:e837-e43.
33. Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013;15:395-8.
34. Guilam MCR, Correa M. Risk, medicine and women: A case study on prenatal genetic counselling in Brazil. Developing World Bioethics 2007;7:78-85.
35. Haidar H, Dupras C, Ravitsky V. Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications. Bioéthique Online 2016;5:1-14.
36. Hickerton CL, Aitken M, Hodgson J, Delatycki MB. “Did you find that out in time?”: New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely. American Journal of Medical Genetics Part A 2012;158A:373-83.
37. Hill M, Lewis C, Chitty LS. Stakeholder attitudes and needs regarding cell-free fetal DNA testing. Curr Opin Obstet Gynecol 2016;28:125-31.
38. Hill M, Twiss P, Verhoef TI, et al. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn 2015;35:950-8.
39. Hunt LM, de Voogd KB, Castaneda H. The routine and the traumatic in prenatal genetic diagnosis: does clinical information inform patient decision-making? Patient Educ Couns 2005;56:302-12.
40. Kaiser AS, E. Ferris L, Katz R, et al. Psychological responses to prenatal NTS counseling and the uptake of invasive testing in women of advanced maternal age. Patient Educ Couns 2004;54:45-53.
41. Kalfoglou A, Suthers K, Scott J, Hudson K. Reproductive genetic testing: What America thinks. Washington, DC: Genetics & Public Policy Center; 2004.
42. Kellogg G, Slattery L, Hudgins L, Ormond K. Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Prenatal Testing. J Genet Couns 2014.
43. Kelly SE. Choosing not to choose: reproductive responses of parents of children with genetic conditions or impairments. Sociol Health Illn 2009;31:81-97.
44. Kowalcek I. Stress and anxiety associated with prenatal diagnosis. Best Practice & Research Clinical Obstetrics & Gynaecology 2007;21:221-8.
45. Lewis C, Hill M, Skirton H, Chitty LS. Non-invasive prenatal diagnosis for fetal sex determination: Benefits and disadvantages from the service users’ perspective. Eur J Hum Genet 2012;20:1127-33.
46. Lewis C, Hill M, Skirton H, Chitty LS. Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy. Eur J Hum Genet 2016;24:809-16.
47. Markens S, Browner CH, Preloran HM. Interrogating the dynamics between power, knowledge and pregnant bodies in amniocentesis decision making. Sociol Health Illn 2010;32:37-56.
48. Marteau TM, Dormandy E. Facilitating informed choice in prenatal testing: how well are we doing? Am J Med Genet 2001;106:185-90.
49. McCormick MJ. Ethical Concerns about Genetic Screening: The Down’s Dilemma. The Journal for Nurse Practitioners 2011;7:316-20.
50. Mercer MB, Agatisa PK, Farrell RM. What patients are reading about noninvasive prenatal testing: an evaluation of Internet content and implications for patient-centered care. Prenat Diagn 2014;34:986-93.
51. Milliez J. Ethical aspects concerning termination of pregnancy following prenatal diagnosis: FIGO Committee for the Ethical Aspects of Human Reproduction and Women’s Health. International Journal of Gynecology & Obstetrics 2008;102:97-8.
52. Morain S, Greene MF, Mello MM. A New Era in Noninvasive Prenatal Testing. N Engl J Med 2013;369:499-501.
53. Moyer A, Brown B, Gates E, Daniels M, Brown HD, Kuppermann M. Decisions about Prenatal Testing for Chromosomal Disorders: Perceptions of a Diverse Group of Pregnant Women. J Womens Health Gend Based Med 1999;8:521-31.
54. Mozersky J. Hoping Someday Never Comes: Deferring Ethical Thinking About Noninvasive Prenatal Testing. AJOB Empirical Bioethics 2015;6:31-41.
55. Muller MA, Bleker OP, Bonse GJ, Bilardo CM. Women’s opinions on the offer and use of nuchal translucency screening for Down syndrome. Prenat Diagn 2006;26:105-11.
56. Natoli JL, Ackerman DL, McDermott S, Edwards JG. Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995–2011). Prenat Diagn 2012;32:142-53.
57. Nelson Goff BS, Springer N, Foote LC, et al. Receiving the initial Down syndrome diagnosis: a comparison of prenatal and postnatal parent group experiences. Intellect Dev Disabil 2013;51:446-57.
58. Ormond KE. Prenatal Screening and Diagnosis. In: Tercyak KP, ed. Handbook of Genomics and the Family. New York: Springer; 2010:221-40.
59. Peach E, Hopkin R. Advances in Prenatal Genetic Testing: Current Options, Benefits, and Limitations. Newborn Infant Nurs Rev 2007;7:205-10.
60. Potter BK, O’Reilly N, Etchegary H, et al. Exploring informed choice in the context of prenatal testing: findings from a qualitative study. Health Expect 2008;11:355-65.
61. Preloran HM, Browner CH, Lieber E. Impact of Interpreters’ Approach on Latinas’ Use of Amniocentesis. Health Educ Behav 2005;32:599-612.
62. Rebouché R. Non-Invasive Testing, Non-Invasive Counseling. The Journal of Law, Medicine & Ethics 2015;43:228-40.
63. Rowe RE, Garcia J, Davidson LL. Social and ethnic inequalities in the offer and uptake of prenatal screening and diagnosis in the UK: a systematic review. Public Health 2004;118:177-89.
64. Sahlin E, Nordenskjold M, Gustavsson P, Wincent J, Georgsson S, Iwarsson E. Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women. PLoS One 2016;11:e0156088.
65. Sapp JC, Hull SC, Duffer S, et al. Ambivalence toward undergoing invasive prenatal testing: an exploration of its origins. Prenat Diagn 2010;30:77-82.
66. Sayres LC, Allyse M, Goodspeed TA, Cho MK. Demographic and experiential correlates of public attitudes towards cell-free fetal DNA screening. J Genet Couns 2014;23:957-67.
67. Schoonen H, Essink-Bot ML, Van Agt HME, Wildschut HI, Steegers EAP, De Koning HJ. Informed decision-making about the fetal anomaly scan: what knowledge is relevant? Ultrasound Obstet Gynecol 2011;37:649-57.
68. Schoonen HMHJD, van Agt HME, Essink-Bot ML, Wildschut HI, Steegers EAP, de Koning HJ. Informed decision-making in prenatal screening for Down’s syndrome: What knowledge is relevant? Patient Educ Couns 2011;84:265-70.
69. Skirton H, Patch C. Factors affecting the clinical use of non-invasive prenatal testing: a mixed methods systematic review. Prenat Diagn 2013;33:532-41.
70. Tapon D. Prenatal Testing for Down Syndrome: Comparison of Screening Practices in the UK and USA. Journal of Genetic Counseling 2010;19:112-30.
71. Tischler R, Hudgins L, Blumenfeld YJ, Greely HT, Ormond KE. Noninvasive prenatal diagnosis: pregnant women’s interest and expected uptake. Prenat Diagn 2011;31:1292-9.
72. Truitt AR, Nguyen MHV. Printing Unrealistic Expectations: A Closer Look at Newspaper Representations of Noninvasive Prenatal Testing. AJOB Empirical Bioethics 2015;6:68-80.
73. van den Berg M, Timmermans DRM, Kleinveld JH, Garcia E, van Vugt JMG, van der Wal G. Accepting or declining the offer of prenatal screening for congenital defects: test uptake and women’s reasons. Prenat Diagn 2005;25:84-90.
74. van Schendel RV, Kater-Kuipers A, van Vliet-Lachotzki EH, Dondorp WJ, Cornel MC, Henneman L. What Do Parents of Children with Down Syndrome Think about Non-Invasive Prenatal Testing (NIPT)? J Genet Couns 2016.
75. Vassy C. From a genetic innovation to mass health programmes: The diffusion of Down’s Syndrome prenatal screening and diagnostic techniques in France. Soc Sci Med 2006;63:2041-51.
76. Warsof SL, Larion S, Abuhamad AZ. Overview of the impact of noninvasive prenatal testing on diagnostic procedures. Prenatal Diagnosis 2015:n/a-n/a.
77. Wildschut HIJ, Peters TJ, Weiner CP. Screening in women’s health, with emphasis on fetal Down’s syndrome, breast cancer and osteoporosis. Hum Reprod Update 2006;12:499-512.
78. Wilson JL, Ferguson GM, Thorn JM. Genetic Testing Likelihood: The Impact of Abortion Views and Quality of Life Information on Women’s Decisions. Journal of Genetic Counseling 2011;20:143-56.
79. Hawthorne F, Ahem K. “Holding our breath”: the experiences of women contemplating nuchal translucency screening. Appl Nurs Res 2009;22:236-42.
80. Rapp R, Ginsburg FD. Enabling disability: Rewriting kinship, reimagining citizenship. Public Culture 2001;13:533-56.
81. Resta R. Are genetic counselors just misunderstood? Thoughts on “The Relationship Between the Genetic Counseling Profession and the Disability Community: A Commentary”. American Journal of Medical Genetics Part A 2011;155:1786-7.

Note: If you’d like to know more about any of these articles or have other questions, just contact us.