BMJ 1996;313:407-411 (17 August)

Education and debate

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

Linda Laird, senior registrar in public health medicine,a Carol Dezateux, senior lecturer in paediatric epidemiology,a Elizabeth N Anionwu, senior lecturer in community genetic counselling b

a Department of Epidemiology and Biostatistics, Institute of Child Health, London WC1N 1EH, b Department of Clinical Genetics and Fetal Medicine, Institute of Child Health

Correspondence to: Carol Dezateux.


Summary points

  • Neonatal screening for sickle cell disorders detects between 17 and 100 carrier infants for each child detected as having sickle cell disorder

  • Information on neonatal carrier status is an unavoidable outcome of the neonatal screening process

  • Withholding information from parents is not justified

  • Further research is needed to evaluate the benefits and risks of this information and the effectiveness of different policies for follow up

  • This is relevant to future developments in molecular genetics, which may place health services under increasing pressure to test for a wide range of genetic conditions in early childhood


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Relevant Article

Infants in Sandwell are screened for haemoglobinopathy gene
Jammi N Rao, Sunil I Handa, Penelope J Stableforth, Jackie Martin, Helen Watson, and Glenda Augustine
BMJ 1996 313: 1403. [Extract] [Full Text]

This article has been cited by other articles:

  • Miller, F A, Hayeems, R Z, Bombard, Y, Little, J, Carroll, J C, Wilson, B, Allanson, J, Paynter, M, Bytautas, J P, Christensen, R, Chakraborty, P (2009). Clinical obligations and public health programmes: healthcare provider reasoning about managing the incidental results of newborn screening. J. Med. Ethics 35: 626-634 [Abstract] [Full text]  
  • Miller, F. A., Robert, J. S., Hayeems, R. Z. (2009). Questioning the Consensus: Managing Carrier Status Results Generated by Newborn Screening. AJPH 99: 210-215 [Abstract] [Full text]  
  • Gulbis, B, Cotton, F, Ferster, A, Ketelslegers, O, Dresse, M F, Ronge-Collard, E, Minon, J M, Le, P Q, Vertongen, F (2009). Neonatal haemoglobinopathy screening in Belgium. J. Clin. Pathol. 62: 49-52 [Abstract] [Full text]  
  • Ciske, D. J., Haavisto, A., Laxova, A., Rock, L. Z. M., Farrell, P. M. (2001). Genetic Counseling and Neonatal Screening for Cystic Fibrosis: An Assessment of the Communication Process. Pediatrics 107: 699-705 [Abstract] [Full text]  
  • Farrell, M. H., Certain, L. K., Farrell, P. M. (2001). Genetic Counseling and Risk Communication Services of Newborn Screening Programs. Arch Pediatr Adolesc Med 155: 120-126 [Abstract] [Full text]  



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