Advertisement

Journal of Community Genetics

, Volume 10, Issue 1, pp 41–50 | Cite as

Coming to terms with the imperfectly normal child: attitudes of Israeli parents of screen-positive infants regarding subsequent prenatal diagnosis

  • Aviad E. RazEmail author
  • Yael Amano
  • Stefan Timmermans
Original Article
  • 95 Downloads

Abstract

This study examines the interface between newborn screening and prenatal diagnosis from the point-of-view of parents of screen-positive children. Many conditions covered by newborn screening represent classic (autosomal recessive) Mendelian disorders. Parents of screen-positive infants therefore often come to learn that they are carriers of the disease, and face a decision whether to test for it in future pregnancies. Semi-structured interviews were conducted in 2015–2017 with 34 Israeli parents whose child was screen positive. Three major themes emanated from the parents’ attitudes toward prenatal testing for the disease in prospective hypothetical pregnancies: rejection of prenatal testing for the disease associated with the screen positive, and relying instead on newborn screening to reveal if a future baby is also sick (18/34, 53%); support of prenatal testing to get more information (7/34, 21%) and support of prenatal testing in order to abort in case of a test positive (9/34, 26%). We discuss the importance of newborn screening for reproductive decision-making, highlighting the arguments associated with positive and negative parental views of the possibility of having another child with the same condition associated with the screen-positive of the child that had already been born. The conclusions challenge the common assertion that parents pursue the dream of the “perfect child” through prenatal diagnosis that “naturally” leads to selective abortion. The diversity of views expressed by Israeli parents of screen-positive children highlights the diversity of normative scripts of “genetic responsibility” in the context of parenthood.

Keywords

Israel Newborn screening Prenatal genetic diagnosis Disability Reproductive decisions 

Notes

Funding

This study was funded by the USA–Israel Binational Science Foundation Award Number: 2012109.

Compliance with ethical standards

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Conflict of interest

The authors declare that they have no conflict of interests.

References

  1. Arribas-Ayllon M, Sarangi S, Clarke A (2011) Genetic testing: accounts of autonomy, responsibility and blame. Routledge, LondonGoogle Scholar
  2. Awiszus D, Unger I (1990) Coping with PKU: results of narrative interviews with parents. Eur J Pediatr 149(1):S45–S51Google Scholar
  3. Blum LM (2015) Raising generation Rx: mothering kids with invisible disabilities in an age of inequality. New York University Press, New YorkGoogle Scholar
  4. Bombard et al (2017) A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis. Genet Med 19(4):403–411Google Scholar
  5. Brosco JP, Seider MI (2008) Adverse medical outcomes of early newborn screening programs for phenylketonuria. Pediatrics 122(1):192–197Google Scholar
  6. Bryant L, Hewison JD, Green JM (2005) Attitudes towards prenatal diagnosis and termination in women who have a sibling with Down’s syndrome. J Reprod Infant Psychol 23(2):181–198Google Scholar
  7. Buchbinder M, Timmermans S (2011) Medical technologies and the dream of the perfect newborn. Med Anthropol 30(1):56–80Google Scholar
  8. Clancy T (2010) A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions. Familial Cancer 9(1):9–14Google Scholar
  9. Cohen BE, Szeinberg A, Peled I, Szeinberg B, Bar-Or R (1966) Screening program for early detection of phenylketonuria in the newborn in Israel. Isr J Med Sci 2(2):156–164Google Scholar
  10. Crombag N et al (2014) Explaining variation in Down’s syndrome screening uptake: comparing the Netherlands with England and Denmark using documentary analysis and expert stakeholder interviews. BMC Health Serv Res 14:437.  https://doi.org/10.1186/1472-6963-14-437 Google Scholar
  11. Davis TC et al (2006) Recommendations for effective newborn screening communication: results of focus groups with parents, providers, and experts. Paediatrics 117:326–340Google Scholar
  12. Denzin NK, Lincoln Y (1994) Handbook of qualitative research. Sage, Thousand OaksGoogle Scholar
  13. Dudding T, Wilcken B, Burgess B, Hambly J, Turner G (2000) Reproductive decisions after neonatal screening identifies cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 82(2):F124–F127Google Scholar
  14. Duster T (2003) Backdoor to eugenics. Routledge, LondonGoogle Scholar
  15. Ettore E (2000) Reproductive genetics, gender and the body: ‘please doctor, may I have a normal baby?’. Sociology 34:403–420Google Scholar
  16. Ettore E (2002) Reproductive genetics, gender and the body. Routledge, LondonGoogle Scholar
  17. Gammeltoft TM (2014) Haunting Images: A Cultural Account of Selective Reproduction in Vietnam. University of California Press, CaliforniaGoogle Scholar
  18. Gofin R, Adler B, Palti H (2004) Screening tests in prenatal care: a national study in Israel. Isr Med Assoc J 6:535–539Google Scholar
  19. Grinshpun-Cohen J, Miron-Shatz T, Berkenstet M, Pras E (2015) The limited effect of information on Israeli pregnant women at advanced maternal age who decide to undergo amniocentesis. Israel J Health Policy Res 4:23.  https://doi.org/10.1186/s13584-015-0019-6 Google Scholar
  20. Grob R (2006) Parenting in the genomic age: the ‘cursed blessing’ of newborn screening. New Genet Soc 25:159–170Google Scholar
  21. Grob R (2008) Is my sick child healthy? Is my healthy child sick? Changing parental experiences of cystic fibrosis in the age of expanded newborn screening. Soc Sci Med 67:1056–1064Google Scholar
  22. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE (2006) Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 117:1915–1921Google Scholar
  23. Hashiloni-Dolev Y (2007) A life (un)worthy of living: reproductive genetics in Israel and Germany. Springer- Kluwer, BerlinGoogle Scholar
  24. Hayeems RZ, Bytautas JP, Miller FA (2008) A systematic review of the effects of disclosing carrier results generated through newborn screening. J Genet Couns 17(6):538–549Google Scholar
  25. Juengst E (1995) “Prevention” and the goals of genetic medicine. Hum Gene Ther 6:1595–1605Google Scholar
  26. Kelly S (2009) Choosing not to choose: reproductive responses of parents of children with genetic conditions or impairments. Sociol Health Illness 31(1):81–97Google Scholar
  27. Kerr SM, McIntosh JB (2000) Coping when a child has a disability: exploring the impact of parent-to-parent support. Child Care Health Dev 26:309–322Google Scholar
  28. Landsman G (2009) Reconstructing motherhood and disability in an age of “perfect” babies. Routledge, LondonGoogle Scholar
  29. Leib JR, Gollust SE, Hull SC, Wilfond BS (2005) Carrier screening panels for Ashkenazi Jews: is more better? Genet Med 7(3):185–190Google Scholar
  30. Lemke T (2007) Susceptible individuals and risky rights: dimensions of genetic responsibility. In: Dumit J, Burri V (eds) Biomedicine as culture. Instrumental practices, technoscientific knowledge, and new modes of life. Routledge, LondonGoogle Scholar
  31. Lewis S, Curnow L, Ross M, Massie J (2006) Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening. J Paediatr Child Health 42(9):533–537Google Scholar
  32. Markens S, Browner CH, Press N (1999) ‘Because of the risks’: how US pregnant women account for refusing prenatal screening. Soc Sci Med 49:359–369Google Scholar
  33. Mischler EH, Wilfond BS, Fost N, Laxova A, Reiser C, Sauer CM, Makholm LM, Shen G, Feenan L, McCarthy C, Farrell PM (1998) Cystic fibrosis screening: impact on reproductive behaviour and implications for genetic counselling. Pediatrics 102:44–52Google Scholar
  34. Mor S (2005) Between charity, welfare, and warfare: a disability legal studies analysis of privilege and neglect in Israeli disability policy. Yale J Law Humanit 18(63):63–136Google Scholar
  35. Moyer V et al (2008) Expanding newborn screening: process, policy, and priorities. Hastings Cent Rep 38(3):32–39Google Scholar
  36. Natoli JL, Ackerman DL, McDermott S, Edwards JG (2012) Prenatal diagnosis of down syndrome: a systematic review of termination rates (1995-2011). Prenat Diagn 32(2):142–153Google Scholar
  37. Natowicz M (2005) Newborn screening - setting evidence-based policy for protection. N Engl J Med 353(9):867–870Google Scholar
  38. Novas C, Rose N (2000) Genetic risk and the birth of the somatic individual. Econ Soc 29:485–513Google Scholar
  39. Parens E, Asch A (eds) (2000) Prenatal testing and disability rights. Georgetown University Press, Washington, D.C.Google Scholar
  40. Paul D (2008) Patient advocacy in newborn screening: continuities and discontinuities. Am J Med Genet Part C 148C:8–14Google Scholar
  41. Polizzi A, Carbone P, Taruscio D (2013) Expanded newborn screening: a chess board motif in public health. J Pediatr Biochem 6(1):66–70Google Scholar
  42. Press NA, Browner CH (1993) “Collective fictions”: similarities in reasons for accepting maternal serum alpha-fetoprotein screening among women of diverse ethnic and social class backgrounds. Fetal Diagn Ther 8(1):97–106Google Scholar
  43. Rapp R (1998) Refusing prenatal diagnosis: the meanings of bioscience in a multicultural world. Sci Technol Hum Values 23(1):45–70Google Scholar
  44. Rapp R (1999) Testing women, testing the fetus: the social impact of amniocentesis in America. Routledge, New YorkGoogle Scholar
  45. Raspberry K, Skinner D (2011a) Enacting genetic responsibility: experiences of mothers who carry the fragile X gene. Sociol Health Illness 33(3):420–433Google Scholar
  46. Raspberry K, Skinner D (2011b) Negotiating desires and options: how mothers who carry the fragile X gene experience reproductive decisions. Soc Sci Med 72:992–998Google Scholar
  47. Raz A (2004) “Important to test, important to support”: attitudes toward disability rights and prenatal diagnosis among leaders of support groups for genetic disorders in Israel. Soc Sci Med 59(9):1857–1866Google Scholar
  48. Raz A (2009a) Community Genetics and Genetic Alliances: Eugenics, Carrier Testing, and Networks of Risk. New York and. Routledge, LondonGoogle Scholar
  49. Raz A (2009b) Eugenic utopias/dystopias, reprogenetics, and community genetics. Sociol Health Illness 31:602–616Google Scholar
  50. Raz A and Timmermans S (2017) Divergent evolution of newborn screening: Israel and the US as gene worlds. BioSocieties (accepted for publication)Google Scholar
  51. Remennick L (2006) The quest for a perfect baby: why do Israeli women seek prenatal genetic testing? Sociol Health Illness 28(1):21–53Google Scholar
  52. Rimmerman A, Soffer M, David D, Dagan T, Rothler R, Mishaly L (2015) Mapping the terrain of disability legislation: the case of Israel. Disabil Soc 30(1):46–58Google Scholar
  53. Rimon-Zarfaty, N. & A. Raz 2010. Abortion Committees as Agents of Eugenics: Medical and Public Views on Selective Abortion following Mild or Likely Embryopathy. Chapter 9 In: Birenbaum-Carmeli, Daphna and Carmeli, Yoram (Eds.), Kin, Gene, Community: Reproductive Technologies among Jewish Israelis. Oxford: Berghahn PressGoogle Scholar
  54. Risøy S, Sirnes T (2015) The decision: relations to oneself, authority and vulnerability in the field of selective abortion. BioSocieties 10(3):317–340Google Scholar
  55. Rose N (2006) The politics of life itself: biomedicine, power, and subjectivity in the twenty-first century. Princeton University Press, PrincetonGoogle Scholar
  56. Rothschild J (2005) The dream of the perfect child. Indiana University Press, BloomingtonGoogle Scholar
  57. Sawyer S et al (2006) Changing their minds with time: a comparison of hypothetical and actual reproductive behaviors in parents of children with cystic fibrosis. Pediatrics 118(3):649–659Google Scholar
  58. Shapira A (1995) Wrongful life. In: Suits by defective newborns for faulty genetic counseling, in the human genome project: legal, social and ethical implications—proceedings of an international workshop. Israel Academy of Sciences and Humanities, JerusalemGoogle Scholar
  59. Shilling V, Morris C, Thompson-Coon J, Ukoumunne O, Rogers M, Logan S (2013) Peer support for parents of children with chronic disabling conditions: a systematic review of quantitative and qualitative studies. Dev Med Child Neurol 55:602–609Google Scholar
  60. Soffer M, Rimmerman A, Blanck P, Hill E (2010) Media and the Israeli disability rights legislation. Disabil Soc 25(6):687–699Google Scholar
  61. Stafler P, Mei-Zahav M, Wilschanski M, Mussaffi H, Efrati O, Lavie M, Shoseyov D, Cohen-Cymberknoh M, Gur M, Bentur L, Livnat G, Aviram M, Alkrinawi S, Picard E, Prais D, Steuer G, Inbar O, Kerem E, Blau H (2016) The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: implications for newborn screening. J Cyst Fibros 15:460–466Google Scholar
  62. Steinbach RJ, Allyse M, Michie M, Liu EY, Cho MK (2016) This lifetime commitment: public conceptions of disability and noninvasive prenatal genetic screening. Am J Med Genet A 170A(2):363–374Google Scholar
  63. Strauss A, Corbin J (1990) Basics of qualitative research. Grounded theory procedures and techniques. Sage, Newbury ParkGoogle Scholar
  64. The Knesset Research and Information Center (2003) Background paper on selective abortions. Jerusalem (in Hebrew)Google Scholar
  65. Timmermans S, Buchbinder M (2010) Patients-in-waiting: living between sickness and health in the genomics era. J Health Soc Behav 51(4):408–423Google Scholar
  66. Timmermans S, Buchbinder M (2013) Saving babies? The consequences of newborn genetic screening. University of Chicago Press, ChicagoGoogle Scholar
  67. Timmermans S, Shostak S (2016) Gene worlds. Health 20(1):33–48Google Scholar
  68. Timmermans S, Tavory I (2007) Advancing ethnographic research through grounded theory practice. In: Bryant, Charmaz K (eds) Handbook of Grounded Theory. Sage, London, pp 493–513Google Scholar
  69. Vailly J (2008) The expansion of abnormality and the biomedical norm: neonatal screening, prenatal diagnosis and cystic fibrosis in France. Soc Sci Med 66(12):2532–2543Google Scholar
  70. Ville I, Mirlesse V (2015) Prenatal diagnosis: from policy to practice. Two distinct ways of managing prognostic uncertainty and anticipating disability in Brazil and in France. Soc Sci Med 141:19–26Google Scholar
  71. Wertz DC, Janes SR, Rosenfield JM, Erbe RW (1992) 1992. Attitudes toward the prenatal diagnosis of cystic fibrosis: factors in decision making among affected families. Am J Hum Genet 50:1077–1085Google Scholar
  72. Wieser B (2010) Public accountability of newborn screening: collective knowing and deciding. Soc Sci Med 70:926–933.  https://doi.org/10.1016/j.socscimed.2009.12.001 Google Scholar
  73. Zlotogora J, Israeli A (2009) A comprehensive screening program for cystic fibrosis. Isr Med Assoc J 11(9):555–557Google Scholar
  74. Zlotogora J, Haklai Z, Leventhal A (2007) Utilization of prenatal diagnosis and termination of pregnancies for the prevention of down syndrome in Israel. Isr Med Assoc J 9(8):600–602Google Scholar
  75. Zlotogora J, Grotto I, Kaliner E, Gamzu R (2016) The Israeli national population program of genetic carrier screening for reproductive purposes. Genet Med 18(2):203–206Google Scholar
  76. Zuckerman, S. 2009. The expansion of newborn screening in Israel: ethical dimensions. PhD Dissertation, Case Western Reserve UniversityGoogle Scholar
  77. Zuckerman S (2017) Indifferent or uninformed? Reflections of health professionals on parental education and consent for expanded newborn screening in Israel, 2008–2016. Int J Neonatal Screening 3:12.  https://doi.org/10.3390/ijns3020012 Google Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Sociology and AnthropologyBen-Gurion University of the NegevBeer ShevaIsrael
  2. 2.Department of SociologyUniversity of CaliforniaLos AngelesUSA

Personalised recommendations