Testing newborn babies for sickle cell diseases

Sickle cell diseases are inherited and affect mainly people of African origin. The red blood cells are abnormally (sickle) shaped, which can lead to life-threatening complications. They are most likely to be fatal in the first few years of life since affected children are at higher risk of serious infections. Regular antibiotics and immunisations reduce the risk of infections, and if sickle status is known, can be started early. Screening babies allows early diagnosis and therefore early treatment. Screening may also have disadvantages. This review aims to assess whether screening compared to diagnosis from symptoms leads to less morbidity and mortality. The authors were not able to find trials that assessed the benefits and harms of screening. There is evidence that starting treatment early is of benefit. Early treatment is made possible by screening in the neonatal period. There are some reports in non-trial literature which suggest that newborn screening is appropriate based on currently available evidence. Healthcare providers must assess whether these reports are relevant to their practice and situation when deciding whether to screen for SCD in the neonatal period. Practice recommendations could be made from the results of a prospective randomised controlled trial. Such a trial may be thought to be unethical given the proven benefit of early preventative treatment of children with penicillin. There are no trials included in the review and we have not identified any relevant trials up to July 2008. We therefore do not plan to update this review until new trials are published.

Authors' conclusions: 

There is a lack of evidence from trials of neonatal screening for sickle cell disease.

There is evidence of benefit from early treatment which is made possible by screening and there are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate. Healthcare providers must therefore assess whether the information provided by these documents is relevant to their practice and situation when making decisions regarding neonatal screening for sickle cell disease.

Systematic reviews of early treatments or interventions, including penicillin prophylaxis, pneumococcal vaccine and parental education should be considered.

There are no trials included in the review and we have not identified any relevant trials up to July 2008. We therefore do not plan to update this review until new trials are published.

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Background: 

Sickle cell disease is an inherited disorder that occurs throughout the world with its highest incidence in areas of Africa where malaria is endemic. It affects up to 1 in 60 infants born in some areas of Africa. There are a number of potentially serious complications associated with the condition, and it is suggested that early treatment (before symptoms develop) can improve both morbidity and mortality. Screening for the condition in the neonatal period would enable early diagnosis and therefore early treatment.

Objectives: 

To assess whether there is evidence that neonatal screening for sickle cell disease rather than symptomatic diagnosis reduces adverse short- and long-term outcomes for those in whom the disease is detected, without adverse outcomes in the population screened.

Search strategy: 

We searched the Haemoglobinopathies Trials Register of the Cochrane Cystic Fibrosis and Genetic Disorders Group. Contact was made with experts in the field for any work as yet unpublished. Reference lists of published studies were also searched.

Date of the most recent search of the Group's Trials Register: 09 April 2010.

Selection criteria: 

Any randomised or quasi-randomised trial, published or unpublished comparing diagnosis by screening to clinical diagnosis would have been considered eligible for inclusion.

Data collection and analysis: 

No trials of neonatal screening for sickle cell disease were found.

Main results: 

No trials of neonatal screening for sickle cell disease were found.

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