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Neonatal screening for sickle cell disease
C M Lees1, S Davies, C Dezateux
1Evidence Based Child Health Unit, Institute of Child Health, Royal Liverpool Children's Hospital, Eaton Rd, Liverpool, UK, L12 2AP. cmlees@liverpool.ac.uk
Insights
Neonatal screening for sickle cell disease lacks trial evidence. Early treatment, enabled by screening, shows benefits, suggesting screening
Area of Science:
- Medical screening
- Genetic disorders
- Public health
Background:
- Sickle cell disease (SCD) is an inherited blood disorder with high incidence in malaria-endemic regions.
- Early diagnosis and treatment of SCD can significantly reduce morbidity and mortality.
- Neonatal screening offers a pathway for early detection before symptom onset.
Purpose of the Study:
- To evaluate evidence on the effectiveness of neonatal screening for sickle cell disease compared to symptomatic diagnosis.
- To assess whether screening reduces adverse outcomes in detected cases and avoids harm in the screened population.
Main Methods:
- Searched Cochrane Cystic Fibrosis and Genetic Disorders Group trials register and contacted experts.
- Included randomized or pseudorandomized trials comparing screening to clinical diagnosis.
- Most recent search conducted in November 1999.
Main Results:
- No randomized controlled trials (RCTs) of neonatal screening for sickle cell disease were identified.
- The search yielded no empirical data from trials on the benefits or harms of screening.
Conclusions:
- A significant lack of trial evidence exists for neonatal screening of sickle cell disease.
- Non-trial literature and economic analyses suggest screening is appropriate.
- Healthcare providers should consider existing evidence on early interventions like penicillin prophylaxis and vaccination when making screening decisions.
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 one 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 Controlled Trials Register of the Cochrane Cystic Fibrosis and Genetic Disorders Group (See Group search strategy). Contact was made with experts in the field for any work as yet unpublished and reference lists of published studies were also searched. Date of the most recent search of the Group's specialised register: November 1999.
Selection Criteria:
Any randomised or pseudorandomised 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.
Reviewer'S 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. Health care 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/interventions, including penicillin prophylaxis, pneumococcal vaccine and parental education should be considered.