Genetic Diagnosis of Familial Hypercholesterolemia in Residual Newborn Dried Blood Spots

Can familial hypercholesterolemia be identified through newborn screening?In this cross-sectional study of 59 927 newborns, 10 004 residual newborn dried blood spot (DBS) specimens were tested for low-density lipoprotein cholesterol and apolipoprotein B followed by familial hypercholesterolemia genetic testing for specimens with the highest levels of the 2 biomarkers, with 1 in 625 newborns genetically confirmed with familial hypercholesterolemia.This study found that newborn screening for familial hypercholesterolemia was feasible with first-tier biochemical testing followed by reflex genetic testing, although further refinement and validation are needed.

Corresponding Author: Amy L. Peterson, MD, MS, Department of Pediatrics, Division of Pediatric Cardiology, University of Wisconsin Madison School of Medicine and Public Health, H6/528 CSC MC 4108, 600 Highland Ave, Madison, WI 53792 (apeterson@pediatrics.wisc.edu).

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