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15 - Prenatal testing and newborn screening

Published online by Cambridge University Press:  30 October 2009

Lainie Friedman Ross
Affiliation:
Professor University of Chicago, USA
Peter A. Singer
Affiliation:
University of Toronto
A. M. Viens
Affiliation:
University of Oxford
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Summary

Ms. C is 34 and she is getting married for the first-time. She tells her obstetrician/gynecologist that she and Mr. D are hoping to conceive quickly. Both Ms. C and Mr. D are of Ashkenazi Jewish descent. Ms. C's physician recommends that she undergo prenatal testing for a number of diseases more common in people of Jewish ancestry. Currently, the Ashkenazi Jewish panel includes up to 10 conditions depending on the laboratory (Leib et al., 2005). The conditions include severe conditions such as Tay Sachs disease and more mild conditions such as Gaucher disease type 1. Ms. C has never heard of any of the conditions, but she agrees to follow her physician's advice.

E is a healthy full-term infant male, who was born 24 hours ago. The nurses inform you that E's mother refused routine vitamin K supplementation given intramuscularly and the hepatitis B immunization because she does not want to put her son through any more discomfort than the birth process. You come to draw the newborn screen for phenylketonuria and other metabolic conditions before discharge, but she refuses.

What is prenatal testing and newborn screening?

Prenatal testing includes a number of clinical tools to provide reproductive information to individuals or couples either preconception or during pregnancy about their risks of having a child with a health disorder or condition. Prenatal testing involves a number of different types of test including genetic carrier testing, ultrasound, amniocentesis or chorionic villus sampling (CVS), or preimplantation genetic diagnosis.

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Chapter
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Publisher: Cambridge University Press
Print publication year: 2008

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References

American Academy of Pediatrics Newborn Screening Task Force (2000). Serving the family from birth to the medical home: newborn screening a blueprint for the future. Pediatrics 106: 389–427.Google Scholar
American College of Obstetricians and Gynecologists (1985). Professional Liability: Implications of AFP Testing (Liability Alert). Washington, DC: American College of Obstetricians and Gynecologists.Google Scholar
American College of Obstetricians and Gynecologists, Committee on Genetics (2005). Committee Opinion Number 325, December 2005. Update on carrier screening for cystic fibrosis. Obstet Gynecol 106: 1465–8.Google Scholar
Anderson, G. (1999). Nondirectiveness in prenatal genetics: patients read between the lines. Nurs Ethics 6: 126–36.CrossRefGoogle ScholarPubMed
Bailey, D. B. Jr., Skinner, D., and Warren, S. F. (2005). Newborn screening for developmental disabilities: reframing presumptive benefit. Am J Public Health 95: 1889–93.CrossRefGoogle ScholarPubMed
Befort, S. F. (2004). Accommodation at work: lessons from the Americans with Disabilities Act and possibilities for alleviating the American worker time crunch. Cornell J Law Public Policy 13: 615–36.Google ScholarPubMed
Bernstein, P. (2001). Comment: fitting a square peg in a round hole: why traditional tort principles do not apply to wrongful birth actions. J Contemp Health Law Policy 18: 297–322.Google Scholar
Blanck, P. D. and Marti, M. W. (1996). Genetic discrimination and the employment provisions of the Americans with Disabilities Act: emerging legal, empirical, and policy implications. Behav Sci Law 14: 411–32.3.0.CO;2-H>CrossRefGoogle ScholarPubMed
Botkin, J. R. (2005). Research for newborn screening: developing a national framework. Pediatrics 116: 862–71.CrossRefGoogle ScholarPubMed
Botkin, J. R., Clayton, E. W., Fost, N. C., et al. (2006). Newborn screening technology: proceed with caution. Pediatrics 117: 1793–9.CrossRefGoogle Scholar
California Code of Regulations (2002). Tit 17 §. 6527.
Canadian Human Rights Commission (2005). Practical Guide for Employment Accommodation for People with Disabilities. Ottawa: Canadian Human Rights Commission (http://www.chrc–ccdp.ca/discrimination/barrier_free–en.asp) accessed 31 August 2006.Google Scholar
Chadwick, R. F. (1993). What counts as success in genetic counselling?J Med Ethics 19: 43–6.CrossRefGoogle ScholarPubMed
Clarke, A. (1993). Response to: “What counts as success in genetic counselling?”J Med Ethics 19: 47–9.CrossRefGoogle Scholar
Davis, A., Bamford, J., Wilson, I., et al. (1997). A critical review of the role of neonatal hearing screening in the detection of congenital hearing impairment. Health Technol Assess 1: 1–176.Google ScholarPubMed
Desposito, F., Lloyd-Puryear, M. A., Tonniges, T. F., Rhein, F., and Mann, M. (2001). Survey of pediatrician practices in retrieving statewide authorized newborn screening results. Pediatrics 108: E22.CrossRefGoogle ScholarPubMed
Directgov (UK) (2006). Disabled People. London: Directgov (http://www.direct.gov.uk/DisabledPeople/fs/en) accessed 31 August 2006.Google Scholar
Douglas County, Nebraska, appellee, v. Josue Anaya and Mary Anaya, husband and wife, as parents of Rosa Ariel Anaya, a minor child, appellants (2005) No. S-03-1446. Supreme Court of Nebraska 269 Neb. 552; 694 N. W.2d 601.
Drake, H., Reid, M., and Marteau, T. (1996). Attitudes towards termination for fetal abnormality: comparisons in three European countries. Clin Genet 49: 134–40.CrossRefGoogle ScholarPubMed
Emery, A. and Rutgers, M. (2001). European collaboration in research into rare diseases: experience of the European Neuromuscular Centre. Clin Med 1: 200–2.CrossRefGoogle ScholarPubMed
Farrell, M., Certain, L., and Farrell, P. (2001). Genetic counseling and risk communication services of newborn screening programs. Arch Pediatr Adolesc Med 155: 120–6.CrossRefGoogle ScholarPubMed
Geller, G., Tambor, E. S., Chase, G. A., et al. (1993). Incorporation of genetics in primary care practice: will physicians do the counseling and will they be directive?Arch Fam Med 2: 1119–25.CrossRefGoogle ScholarPubMed
Goss, C. H., Mayer-Hamblett, N., Kronmal, R. A., and Ramsey, B. W. (2002). The cystic fibrosis therapeutics development network (CF TDN): a paradigm of a clinical trials network for genetic and orphan diseases. Adv Drug Deliv Rev 54: 1505–28.CrossRefGoogle ScholarPubMed
Grosse, S. D., Boyle, C. A., Kenneson, A., Khoury, M. J., and Wilfond, B. S. (2006). From public health emergency to public health service: the implications of evolving criteria for newborn screening panels. Pediatrics 117: 923–9.CrossRefGoogle ScholarPubMed
Gurain, E. A., Kinnamon, D. D., Henry, J. J., and Waisbren, S. E. (2006). Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 117: 1915–22.CrossRefGoogle Scholar
Guthrie, R. and Susi, A. (1963). A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32: 338–43.Google ScholarPubMed
Guttler, F., Azen, C., Guldberg, P., et al. (1999). Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. Pediatrics 104: 258–62.CrossRefGoogle ScholarPubMed
Hiller, E. H., Landenburger, G., and Natowicz, M. R. (1997). Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States. Am J Public Health 87: 1280–8.CrossRefGoogle ScholarPubMed
Hoff, T. and Hoyt, A. (2006). Practices and perception of long-term follow-up among state newborn screening programs. Pediatrics 117: 1922–30.CrossRefGoogle ScholarPubMed
Howlett, M. J., Avard, D., and Knoppers, B. M. (2002). Physicians and genetic malpractice. Med Law 21: 661–80.Google ScholarPubMed
International Disability Alliance (2006). http://www.internationaldisabilityalliance.org/ (last accessed 31 August 2006).
Kaback, M. M. and O'Brien, J. S. (1973). Tay Sachs: prototype for prevention of genetic disease. Hosp Pract 8: 107–116.CrossRefGoogle Scholar
Kerschner, J. E. (2004). Neonatal hearing screening: to do or not to do. Pediatr Clin North Am 51: 725–36.CrossRefGoogle ScholarPubMed
Laird, L., Dezateux, C., and Anionwu, E. N. (1996). Neonatal screening for sickle cell disorders: what about the carrier infants?BMJ 313: 407–11.CrossRefGoogle ScholarPubMed
Leib, J. R., Gollust, S. E., Hull, S. C., and Wilfond, B. S. (2005). Carrier screening panels for Ashkenazi Jews: is more better?Genet Med 7: 185–90.CrossRefGoogle ScholarPubMed
Mandl, K. D., Feit, S., Larson, C., and Kohane, I. S. (2002). Newborn screening program practices in the United States: notification, research, and consent. Pediatrics 109: 269–73.CrossRefGoogle ScholarPubMed
Mansfield, C., Hopfer, S., Marteau, T. M. on behalf of a European Concerted Action: DADA (1999). Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. Prenat Diagn 19: 808–12.3.0.CO;2-B>CrossRefGoogle ScholarPubMed
Marteau, T., Drake, H., and Bobrow, M. (1994). Counselling following diagnosis of a fetal abnormality: the differing approaches of obstetricians, clinical geneticists, and genetic nurses. J Med Genet 31: 864–7.CrossRefGoogle ScholarPubMed
McCandless, S. E. (2004). A primer on expanded newborn screening by tandem mass spectrometry. Primary Care Clin Office Pract 31: 583–604.CrossRefGoogle ScholarPubMed
McCleary-Jones, V. (2005). The Americans with Disabilities Act of 1990 and its impact on higher education and nursing education. ABNF [Association of Black Nursing Faculty] J 16: 24–7.Google ScholarPubMed
Michie, S., Bron, F., Bobrow, M., and Marteau, T. M. (1997). Nondirectiveness in genetic counseling: an empirical study. Am J Hum Gen 60: 40–7.Google ScholarPubMed
National Newborn Screening Status Report (2006). http://genes–r–us.uthscsa.edu/nbsdisorders.pdf (updated monthly; accessed 31 August 2006).
Nelson, R. M., Botkin, J. R., Kodish, E. D., et al., for the American Academy of Pediatrics, Committee on Bioethics (2001). Ethical issues with genetic testing in pediatrics. Pediatrics 107: 1451–5.Google Scholar
Ormond, K. and Ross, L. F. (2006). Ethical issues in reproductive genetics. In Individuals, Families, and the New Era of Genetics, ed. Miller, S. M., McDaniel, S. H., Rolland, J. S., and Feetham, S. L.. New York: WW Norton, pp. 465–85.Google Scholar
Palomaki, G. E., FitzSimmons, S. C., and Haddow, J. E. (2004). Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med 6: 405–14.CrossRefGoogle Scholar
Pandor, A., Eastham, J., Beverley, C., Chilcott, J., and Paisley, S. (2004). Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess 8: 1–121.CrossRefGoogle ScholarPubMed
Parens, E. and Asch, A. (2000). The disability rights critique of prenatal genetic testing: reflections and recommendations. In Prenatal Testing and Disability Rights, ed. Parens, E., and Asch, A.. Washington, DC: Georgetown University Press, pp. 3–43.Google Scholar
Parsons, E. P., Clarke, A. J., and Bradley, D. M. (2003). Implications of carrier identification in newborn screening for cystic fibrosis. Arch Dis Childh Fet Neonat Edn 88: F467–71.CrossRefGoogle ScholarPubMed
Reddy, U. M. and Mennuti, M. T. (2006). Incorporating first-trimester Down syndrome studies into prenatal screening: executive summary of the National Institute of Child Health and Human Development Workshop. Obstet Gynecol 107: 167–73.CrossRefGoogle ScholarPubMed
Reilly, P. (1977). Genetics, Law and Social Policy. Cambridge, MA: Harvard University Press.CrossRefGoogle Scholar
Saxena, A. (2003). Issues in newborn screening. Genet Test 7: 131–4.CrossRefGoogle ScholarPubMed
Sorenson, J. R., Levy, H. L., Mangione, T. W., and Sepe, S. J. (1984). Parental response to repeat testing of infants with “false-positive” results in a newborn screening program. Pediatrics 73: 183–7.Google Scholar
Stoddard, J. J. and Farrell, P. M. (1997). State-to-state variations in newborn screening policies. Arch Pediatr Adolesc Med 151: 561–4.CrossRefGoogle ScholarPubMed
Strasser, M. (2003). Yes, Virginia, there can be wrongful life: on consistency, public policy, and the birth-related torts. Georgetown J Gender Law 4: 821–60.Google Scholar
Therrell, B. L., Johnson, A., and Williams, D. (2006). Status of newborn screening programs in the United States. Pediatrics 117: S212–52.CrossRefGoogle ScholarPubMed
Tluczek, A., Mischler, E. H., Farrell, P. M., et al. (1992). Parents' knowledge of neonatal screening and response to false positive cystic fibrosis testing. Devel Behav Pediatr 13: 181–6.Google ScholarPubMed
Walsh, N. E. (2004). The Walter J. Zeiter Lecture: global initiatives in rehabilitation medicine. Arch Phys Med Rehabil 85: 1395–402.CrossRefGoogle Scholar
Wilson, J. M. G. and Jungner, F. (1968). Public Health Papers, No. 34: Principles and Practice of Screening for Disease. Geneva: World Health Organization.Google Scholar

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