An immunoassay was developed for the detection of hypercholesterolaemia in dried blood spots collected from 6-day-old neonates. Blood spot samples (9,673) were subjected to immunoturbidimetric assay to determine the levels of apolipoprotein B (apoB), an index of plasma low density lipoprotein, and of apolipoprotein A-1 (apoA-1), an index of plasma high density lipoprotein. Infants with raised apoB or a reduced apoA-1/apoB ratio were recalled, retested and, if appropriate, referred to the Vascular Risk Clinic at King's College Hospital for medical management. A total of 189 were recalled for further testing; of whom 82 (45%) attended the recall clinic. A group of 16 families (24 individuals) had abnormal lipid profiles; of these, 7 families (14 individuals) had lipid profiles consistent with inherited hypercholesterolaemia.
Conclusion Neonatal screening for hypercholesterolaemia using blood spot apolipo- protein measurements is feasible but ethnic variations in disease prevalence must be considered in the design of a screening programme.
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Received: 2 September 1997 / Accepted in revised form: 22 February 1999
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Beeso, J., Wong, N., Ayling, R. et al. Screening for hypercholesterolaemia in 10,000 neonates in a multi-ethnic population. Eur J Pediatr 158, 833–837 (1999). https://doi.org/10.1007/s004310051217
- Key words Neonatal screening
- Familial hypercholesterolaemia
- Apolipoprotein B
- Blood spots