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Screening for familial hypercholesterolemia in 5000 neonates: a recall study
B L Blades1, N P Dudman, D E Wilcken
1Department of Cardiovascular Medicine, University of New South Wales, Prince Henry Hospital, Sydney, Australia.
Pediatric Research
|May 1, 1988
Summary
Newborn screening for familial hypercholesterolemia using apolipoprotein B (Apo B) levels on dried blood spots is feasible. This method can identify infants at high risk for this genetic disorder.
Area of Science:
- Biochemistry
- Genetics
- Neonatal Screening
Background:
- Familial hypercholesterolemia (FH) is an inherited disorder leading to high cholesterol levels and premature cardiovascular disease.
- Early detection and intervention are crucial for managing FH and preventing its complications.
Purpose of the Study:
- To assess the feasibility of using apolipoprotein B (Apo B) levels in dried blood spots from neonates for familial hypercholesterolemia screening.
- To identify infants with elevated Apo B levels and investigate their genetic predisposition to FH.
Main Methods:
- Radial immunodiffusion assay was used to measure Apo B levels in dried blood spots from 5000 neonates.
- Infants in the top 2% of Apo B levels were recalled for repeat testing.
- Parental lipid profiles and Apo B levels were analyzed for infants with persistently high Apo B levels.
Main Results:
- Two fathers with premature coronary artery bypass surgery and type II lipid profiles had children with elevated Apo B levels.
- Elevated Apo B levels in infants correlated with parental lipid profiles, suggesting a genetic link.
- The screening method demonstrated potential for identifying at-risk infants.
Conclusions:
- Neonatal screening for FH using Apo B levels in dried blood spots is a viable approach.
- This screening strategy can help in the early identification of individuals with a high risk for familial hypercholesterolemia.
- Further research is warranted to confirm the long-term efficacy and cost-effectiveness of this screening method.