Fortnightly Review: Neonatal screening for sickle cell disorders: What about the carrier infants?

BMJ

Volumn 313, Issue 7054, 1996, Pages 407-411

  Laird, Linda ^a   Dezateux, Carol ^a   Anionwu, Elizabeth N ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASE CARRIER; FOLLOW UP; HEALTH CARE POLICY; HUMAN; MEDICAL ETHICS; MEDICAL INFORMATION; MOLECULAR GENETICS; NEWBORN; NEWBORN SCREENING; PATIENT RIGHT; PRIORITY JOURNAL; SHORT SURVEY; SICKLE CELL ANEMIA;

CARRIERS; CLINICAL APPROACH/SOURCE; COSTS AND BENEFITS; GENETICS AND REPRODUCTION; GREAT BRITAIN; NATIONAL HEALTH SERVICE; PROFESSIONAL PATIENT RELATIONSHIP; RISKS AND BENEFITS; STIGMATIZATION; UNCERTAINTY;

ANEMIA, SICKLE CELL; ANXIETY; COMMUNICATION; GENETIC COUNSELING; HEALTH POLICY; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PEDIGREE; RISK ASSESSMENT; TRUTH DISCLOSURE; UNCERTAINTY;

EID: 0029740461     PISSN: 09598138     EISSN: 14685833     Source Type: Journal    
DOI: 10.1136/bmj.313.7054.407     Document Type: Article

References (51)

1. Standing Medical Advisory Committee. Sickle cell, thalassaemia and other haemoglobinopathies. London: HMSO, 1994.
2. Sickle Cell Disease Guideline Panel. Sickle cell disease: screening, diagnosis, management, and counselling in newborns and infants. Rockville: Agency for Health Care Policy and Research, 1993.
3. Stephens A. Management of sickle cell anaemia and thalassaemia. London: City and Hackney Community Health Council, 1987: 11–9.
4. Davies SC, Henthorn JS, Graham VV. Neonatal screening for haemoglobinopathies in north west London, UK.In: Farriaux J-P, Dhondt J-L, eds. New horizons in neonatal screening: proceedings of the 9th international screening symposium and the 2nd meeting of the international society for neonatal screening, Lille, France, 13-17 September 1993. London: Excerpta Medica, 1994: 195–8.
5. Eboh W, Van den Akker O. Service provision for sickle cell disease. British Journal of Midwifery 1995; 3: 189–95.
6. Horn ME, Dick MC, Frost B, Davis LR, Bellingham AJ, Stroud CE et al. Neonatal screening for sickle cell diseases in Camberwell: results and recommendations of a two year pilot study. BMJ 1986; 292: 737–40.
7. Cooling H. Neonatal screening for sickle cell disease in Camberwell. BMJ 1986; 292: 958.
8. Dalby S. Genetic Interest Group response to the UK Clinical Genetics Society report “The genetic testing of children.” J Med Genet 1995; 32: 490–2.
9. Clarke A. The genetic testing of children: report of a working party of the Clinical Genetics Society (UK). J Med Genet 1994; 31: 785–97.
10. Smith T. Genes and ethics. BMJ 1995; 311: 574.
11. Marteau T, Michie S. A positive screening test for an untreatable condition provides psychological relief from uncertainty. BMJ 1995; 311: 58–9.
12. Githens JH, Lane PA, McCurdy RS, Houston ML, McKinna JD, Cole DM. Newborn screening for hemoglobinopathies in Colorado. The first 10 years. American Journal of Diseases of Children 1990; 144: 466–70.
13. Grossman LK, Holtzman NA, Charney E, Schwartz AD. Neonatal screening and genetic counseling for sickle cell trait. American Journal of Diseases of Children 1985; 139: 241–4.
14. Rowley PT. Parental receptivity to neonatal sickle trait identification. Pediatrics 1989; 83: 891–3.
15. Sears DA. Sickle cell trait. In: Embury SH, Hebbel RP, Mohandas N, Steinberg MH, eds. Sickle cell disease: basic principles and clinical practice. New York: Raven Press, 1994; 381–94.
16. Serjeant GR. The sickle cell trait.In: Serjeant GR, ed. Sickle cell disease. Oxford: Oxford University Press, 1992: 415–25.
17. Lorey F, Cunningham G, Shafer F, Lubin B, Vichinsky E. Universal screening for haemoglobinopathies using high-performance liquid chromatography: clinical results of 2.2 million screens. European Journal of Human Genetics 1994; 2: 262–71.
18. Papadea C, Eckman JR, Kuehnert RS, Platt AF. Comparison of liquid and dried blood for neonatal hemoglobinopathy screening: laboratory and programmatic issues. Pediatrics 1994; 93: 427–32.
19. British Society for Haematology. Guidelines for haemoglobinopathy screening. Clin Lab Haematol 1988; 10: 87–94.
20. Hurst D. Newborn screening for sickle cell anaemia and other hemoglobinopathies: northern California's experience. Pediatrics 1989; 83: 868–71.
21. Griffiths PD, Mann JR, Darbyshire PJ, Green A. Evaluation of eight and a half years of neonatal screening for haemoglobinopathies in Birmingham. BMJ 1988; 296: 1583–5.
22. Adjaye N, Bain BJ, Steer P. Prediction and diagnosis of sickling disorders in neonates. Arch Dis Child 1989; 64: 39–43.
23. McCabe ER, Huang S, Seltzer WK, Law ML. DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening. Hum Genet 1987; 75: 213–6.
24. Zhang Y, McCabe ER. RNA analysis from newborn screening dried blood specimens. Hum Genet 1992; 89: 311–4.
25. Jinks DC, Minter M, Tarver DA, Vanderford M, Hejtmancik JF, McCabe ER. Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening. Hum Genet 1989; 81: 363–6.
26. Macintyre S, Sooman A. Non-paternity and prenatal genetic screening. Lancet 1991; 338: 869–71.
27. Brock DJH, Shrimpton AE. Non-paternity and prenatal genetic screening [letter]. Lancet 1991; 338: 1151.
28. Markel H. The stigma of disease: implications of genetic screening. Am J Med 1992; 93: 209–15.
29. Billings PR, Kohn MA, Cuevas de M, Beckwith J, Alper JS, Natowicz MR. Discrimination as a consequence of genetic testing. Am J Hum Genet 1992; 50: 476–82.
30. Science and Technology Committee. Human genetics: the science and its consequences. London: HMSO, 1995.
31. Hampton ML, Anderson J, Lavizzo BS, Bergman AB. Sickle cell “nondisease”—a potentially serious public health problem. American Journal of Diseases of Children 1974; 128: 58–61.
32. Wooldridge EQ, Murray RF. The health orientation scale: a measure of feeling about sickle cell trait. Soc Biol 1989; 35: 123–36.
33. Zeesman S, Clow CL, Cartier L, Scriver CR. A private view of heterozygosity: eight year follow-up on carriers of Tay-Sachs gene detected by high school screening. Am J Med Genet 1984; 18: 769–78.
34. Antley MA, Antley RM, Hartlage LC. Effects of genetic counselling on parental self concepts. J Psychol 1973; 83: 335–8.
35. Marteau TM, van-Duijn M, Ellis I. Effects of genetic screening on perceptions of health: a pilot study. J Med Genet 1992; 29: 24–6.
36. Ballas SK, Park D, Wapner RJ. Neonatal screening for sickle cell disease in a metropolitan university hospital: efficacy and problems. Journal of Medical Screening 1994; 1: 229–32.
37. Marteau T, Anionwu EN. Evaluating carrier testing: objectives and outcomes. In: Marteau T, Richard MPM, eds. The troubled helix: social and psychological implications of the new genetics. Cambridge: Cambridge University Press, 1996: 123–39.
38. NHS Management Executive. Sickle cell anaemia. Leeds: NHSME, 1994.
39. Balarajan R, Raleigh V. Ethnicity and health: a guide for the NHS. London: Department of Health, 1993.
40. Anionwu EN. Sickle cell and thalassaemia: community experiences and official response. In: Ahmad WIU, ed. “Race” and health in contemporary Britain. Buckingham: Open University Press, 1993; 76–95.
41. Sickle Cell Society. Sickle cell disease: the need for improved services. London: SCS, 1981.
42. Pelias MZ. Duty to disclose in medical genetics: a legal perspective. Am J Med Genet 1991; 39: 347–54.
43. Committee on Assessing Genetic Risks. Assessing genetic risks: implications for health and social policy. Washington: National Academy Press, 1994.
44. Nuffield Council on Bioethics Working Party on Genetic Screening. Genetic screening: ethical issues. London: Nuffield Council on Bioethics, 1993.
45. Statham H. Mothers' consent to screening newborn babies for disease. BMJ 1993; 306: 858–9.
46. Working Party on Prenatal Diagnosis and Genetic Screening. Prenatal diagnosis and genetic screening: community and service implications. London: Royal College of Physicians of London, 1989.
47. Anionwu EN. Sickle cell and thalassaemia: some priorities for nursing research. J Adv Nurs 1996; 23: 853–6.
48. Shickle D, May A. Knowledge and perceptions of haemoglobinopathy carrier screening among general practitioners in Cardiff. J Med Genet 1989; 26: 109–12.
49. Choiseul M, Allen A, May A. Training and needs of health visitors in the haemoglobinopathies. Health Visitor 1988; 61: 205–6.
50. King's Fund forum consensus statement: screening for fetal and genetic abnormality. BMJ 1987; 295: 1551–3. (Conference report.)
51. Anionwu EN. Ethnic origin of sickle and thalassaemia counsellors: does it matter? In: Kelleher D, Hillier S, eds. Researching cultural differences in health. Routledge, 1996: 160–89.