Opportunity to Reach Individuals With Genetic Dyslipidemia During Infancy and the Newborn Period to Find Familial Hypercholesterolemia
The goal of this clinical trial is to identify different types of Familial Hypercholesterolemia (FH) in infants and newborns. Participants will: * undergo a cheek swab for genetic testing (parents only) * have 5 blood samples collected Participants can expect to be in the trial for 2 years.
• Individuals in the expectant partnership providing informed consent are at least 18 years of age.
• Ability to understand and willingness to sign a written informed consent document.
• Willingness to comply with all study procedures and be available for the duration of the study.
• Expectant parent (currently pregnant with fetus ≥12 weeks gestation) where one or both partners have been diagnosed with possible or definite HoFH or HeFH based on Dutch Lipid Clinic Network (DLCN) or confirmed diagnosis from a healthcare provider. At minimum, at least one parent with HoFH or HeFH must be willing to consent to study participation. However, both parents will be invited to participate.
• Parent(s) commit to using local laboratory services for infant blood samples, with mobile phlebotomy used as an alternative if available in their area.
• Newborn does not have any congenital abnormalities or medical conditions that may interfere with collection of dried blood spot (DBS) specimen and newborn does not require admission to neonatal intensive care unit.