Pilot Project of Familial Hypercholesterolemia Screening in Newborns in the Czech Republic

The project is a national, prospective, multicenter, non-interventional pilot project of screening for the disease Familial hypercholesterolaemia (FH) in newborns in the Czech Republic.The main goal of the project is to methodically prepare, implement and evaluate a pilot project that will verify the suitability of the proposed procedure of early detection of Familial hypercholesterolaemia in such a way as to ensure the maximum positive impact on the health of the population and high cost-effectiveness of the whole process.

Inclusion Criteria:The mother of the unborn child has a permanent residence in the Czech Republic.The mother of the unborn child is able to understand the information provided in the Informed Consent and in the Consent to the Processing of Personal Data.Exclusion Criteria:The unborn child suffer from a severe developmental defect. Severe developmental defects are considered to be: severe CNS defect (hydrocephalus, holoprosencephaly), severe heart defect requiring surgical correction, congenital pulmonary airway malformation (CPAM), cystic renal degeneration, GIT obstruction, cleft palate and neural tube defects.The unborn child suffer from growth retardation (premature babies can be included in the project). Growth retardation is considered to be a growth restriction with a weight estimate below the 5th percentile.Either of the future parents (mother / father) is diagnosed with FH (or is aware that he or she would suffer from FH).