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

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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BMJ 1996 313: 1403. [Extract] [Full Text]

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