Coordinated neonatal screening programme for haemoglobin disorders is needed
BMJ 1998; 316 doi: https://doi.org/10.1136/bmj.316.7135.937 (Published 21 March 1998) Cite this as: BMJ 1998;316:937
- Allison Streetly, Consultant,
- Krista Maxwell, Research associate,
- Beverly Campbell, Director
- United Medical and Dental Schools, St Thomas's Hospital, London SE1 7EH
- Sickle Cell Society, London NW10 4UA
EDITOR—Modell et al's audit of prenatal diagnosis for haemoglobin disorders shows the lack of a public health approach to the issue in the United Kingdom.1
Firstly, numbers of affected births for sickle cell disease in the United Kingdom are not reported and, in fact, are not known. This reflects the lack of a coordinated neonatal screening programme (despite good evidence of the effectiveness of neonatal screening in reducing mortality) and of adequate data collection.2 As a result, inconsistent local antenatal and neonatal screening programmes are developing and their effectiveness remains uncertain.3 This is in contrast to programmes for phenylketonuria and congenital hypothyroidism, for which national registers have been established for many years. Without details of the methods used or validation against observed numbers in a large population, the estimates of birth prevalence reported should be treated with caution.
Secondly, table 4 in the paper should report the proportion of all parents identified who attend for prenatal diagnosis. It does not include those parents who are identified as being at risk but do not come forward for prenatal diagnosis: having been counselled previously, some parents opt not to have prenatal diagnosis in subsequent pregnancies.
Thirdly, the success of an antenatal screening programme depends crucially on effective education of professionals and communities. Professionals can then advise appropriately and couples can make informed reproductive choices. The authors' failure to mention these points in their discussion of utilisation of prenatal diagnosis suggests a lack of a population approach. This is despite evidence of the gaps in knowledge among both professionals and the relevant communities. 4 5
Screening programmes should not be treated as a technical matter in isolation from the populations to which they relate. The failure of the United Kingdom to develop a coordinated neonatal screening programme is mirrored by the continuing lack of coordinated community education and professional training. A coherent national policy and services are needed for both antenatal and neonatal screening, linked to culturally appropriate community education programmes involving the relevant communities and support to ensure adequate data collection. This is emphasised by the estimates for Greater London that the total of 9000 affected individuals in 1996 will rise to 12 500 by 2011.3