Related Experiment Videos
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.
Insights
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.
Abstract:
To investigate the feasibility of screening for familial hypercholesterolemia, apolipoprotein B (Apo B) levels were determined in dried blood spot samples on neonatal screening cards from 5000 consecutively born neonates, by radial immunodiffusion assay. The 103 infants with Apo B levels in the top 2% were recalled for repeat dried blood spot Apo B determinations. Forty-five of the 103 infants were retested, and serum lipid profiles and Apo B levels were determined for both parents of 43 of these infants, and for the mother only for the other two infants. The recalled "top 2%" group had a higher proportion of females, a higher mean birth weight, a higher mean gestational age and a higher proportion of infants sampled initially on day 5 than in the total screened population, consistent with our previously determined influence of these factors on Apo B levels at screening. The retested group (n = 45) was representative of the total recalled group (n = 103) with respect to Apo B levels at screening, sex, birth weight, gestational age, and age at sampling for screening. The infants' mean +/- SD age at retesting was 12.3 +/- 3.3 months. Their mean Apo B value on retesting was 0.65 +/- 0.20 g/liter of whole blood (range 0.30 to 1.16 g/liter). Two fathers had had coronary bypass surgery by the age of 40 and had type II lipid profiles and elevated serum Apo B levels. For both, their child had elevated Apo B levels at recall (both 1.05 g/liter of whole blood).(ABSTRACT TRUNCATED AT 250 WORDS)