pilot project of familial hypercholesterolemia screening in newborns in the czech republic

Conditions: Familial Hypercholesterolaemia

Summary: 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.

the project is a national, prospective, multicenter, non-interventional pilot project of screening for the disease familial hypercholesterolaemia in newborns taking place in 12 selected perinatological centers 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. the project will include 10,000 newborns, in whom umbilical cord blood will be taken, from which the level of blood lipids - ldl cholesterol and total cholesterol - will be determined in a biochemical laboratory. in 1,500 newborns with the highest level of ldl cholesterol in the whole examined cohort, a molecular genetic examination of causal dna mutations responsible for the fh development will be performed. the final evaluation of the fh diagnosis will be performed by specialized doctor, who in case of confirmed/suspected fh diagnosis will contact the child's mother or the pediatrician who has taken the child into care. according to epidemiological data, it can be assumed that the project will newly reveal approximately 40-50 children (families) with fh disease. this approach will allow fh-positive newborns to initiate adequate regimen measures from 2 years of age later followed by pharmacological intervention from 8 years of age, which will dramatically reduce their risk of premature death and non-fatal cardiovascular ischemic events at their young adult age. in addition, according to the valid recommendations for the diagnosis and treatment of this disease in the czech republic, it can be assumed that finding fh-positive child will also lead to cascade examination of his/her relatives (parents, grandparents, siblings and possibly also siblings of the affected parent), which, due to the type of fh inheritance, will reveal at least one another fh-positive relative in the affected family. it should be emphasized that the parents of newly diagnosed child are usually at the age when the risk of their untimely death or premature non-fatal myocardial infarction is very high (compared to common population). in adult relatives of the sick child, in whom fh disease will be subsequently diagnosed, the necessary pharmacological treatment will be initiated immediately. as a result, the pilot project should provide data that will help the relevant authorities to decide on the possible extension of the existing neonatal screening in the czech republic to familial hypercholesterolaemia testing. the project will also raise awareness of familial hypercholesterolaemia in society. the project is supported by the european social fund (operational program employment) and the state budget of the czech republic and is registered by the ministry of labour and social affairs of the czech republic under id: cz.03.2.63/0.0/0.0/15_039/0009642.

Eligibility criteria:
inclusion criteria: 1. the mother of the unborn child has a permanent residence in the czech republic. 2. 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: 1. 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. 2. 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. 3. either of the future parents (mother / father) is diagnosed with fh (or is aware that he or she would suffer from fh).

Keywords: familial hypercholesterolaemia newborns screening cholesterol molecular analysis