Genetic Diagnosis of Familial Hypercholesterolemia in Residual Newborn Dried Blood Spots.

Newborn screening for familial hypercholesterolemia (FH) would dramatically increase the diagnosis of a common, potentially fatal but highly treatable genetic condition in newborns and relatives. Newborn residual Dried Blood Spots (DBS) were tested for total cholesterol, LDL-C, and apolipoprotein B, with a subset with elevated concentrations for these biomarkers tested for pathogenic variants in 8 genes associated with FH. The study found that screening newborns for FH using first-tier biochemical testing with reflex second-tier genetic testing was feasible and, in this population, identified 1 in 625 newborns with FH. Further refinement and validation are needed before implementation.

• JAMA Cardiol. 2025 Oct 29:e254047.
• PMID: 41160044
• doi: 10.1001/jamacardio.2025.4047
• NOT OPEN ACCESS contact [email protected]