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Population screening for neonatal liver disease: potential for a community-based programme
J E Powell1, S Keffler, D A Kelly
1Department of Public Health and Epidemiology, University of Birmingham, UK.
Insights
A community screening program using conjugated bilirubin in blood effectively detects neonatal liver disease. This approach shows high sensitivity and specificity, potentially improving infant outcomes.
Area of Science:
- Neonatology
- Hepatology
- Public Health Screening
Background:
- Neonatal liver disease requires early detection for improved outcomes.
- Current screening methods may not be universally effective or accessible.
Purpose of the Study:
- To evaluate a community-based screening program for neonatal liver disease.
- To assess the utility of conjugated bilirubin quantitation in blood for this purpose.
Main Methods:
- A prospective cohort study analyzed spare plasma from neonatal screening specimens.
- Babies with elevated conjugated bilirubin levels (>18 mumol/l and >20% of total bilirubin) were followed up.
- 27,654 community-born neonates and 2,425 hospitalized neonates were tested.
Main Results:
- The screening test demonstrated high sensitivity (100%) and specificity (99.6%) for neonatal liver disease.
- 11 out of 12 infants with persistently abnormal results were diagnosed with liver conditions, including neonatal hepatitis and biliary atresia.
- 84.7% of specimens were analyzed, with common reasons for exclusion being hemolysis and insufficient sample volume.
Conclusions:
- Conjugated bilirubin in plasma is a reliable marker for detecting neonatal liver disease.
- A population screening program using this method can enhance infant survival and quality of life.
- Adaptation of the method for dried blood spots is crucial for practical implementation in neonatal screening programs.
Objectives:
To evaluate a community-based screening programme for detecting neonatal liver disease by the quantitation of conjugated bilirubin in blood.
Settings And Methods:
Prospective cohort/observational study using spare plasma from routinely collected liquid neonatal screening specimens from babies born in Birmingham over a two-year period. Babies with a conjugated bilirubin above 18 mumol/l and comprising more than 20% of the total bilirubin were followed up. A total of 27654 neonates were tested in the community, with a further 2425 samples from babies hospitalised at the time of the test.
Results:
In the community-based series, 84.7% of the specimens received were analysed, the remainder being unusable mainly because of gross haemolysis (8.6%) or insufficient sample (5.8%). In 107 neonates the results were above the cut-off limits (0.46% of the number analysed). Of these, 12 had persistently abnormal results, 11 of whom had confirmed liver disease. The liver diseases detected included neonatal hepatitis (n=6), extra-hepatic biliary atresia (n=2), hypopituitarism (n=1), alpha-1-antitrypsin deficiency (n=1) and Alagille syndrome (n=1). The sensitivity and specificity of the test for babies in the community were 100% and 99.6%, respectively.
Conclusions:
Conjugated bilirubin in plasma measured at 6-10 days is a reliable marker for neonatal liver disease, and a population screening programme based on this method has the potential to improve the survival and quality of life of infants born with liver disease. However, testing as part of the neonatal screening programme will prove practical only if the method can be adapted to use dried blood spots.
