Springer Nature is making Coronavirus research free. View research | View latest news | Sign up for updates

Screening for hypercholesterolaemia in 10,000 neonates in a multi-ethnic population

  • 67 Accesses

  • 8 Citations


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.

This is a preview of subscription content, log in to check access.

Author information

Additional information

Received: 2 September 1997 / Accepted in revised form: 22 February 1999

Rights and permissions

Reprints and Permissions

About this article

Cite this article

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).

Download citation

  • Key words Neonatal screening
  • Familial hypercholesterolaemia
  • Apolipoprotein B
  • Blood spots