Projects & Grants
Identification of congenital heart defects risk factors and their application for early prenatal screening | |
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Project Id | NW25-09-00351 |
Main solver | doc. Ing. Hana Tomášková, Ph.D. |
Period | 5/2025 - 12/2028 |
Provider | Agentura zdravotnického výzkumu ČR |
State | solved |
Anotation | Congenital heart defects (CHD) are the most common human morphological pathology, and these defects have different subdivisions and different clinical significance. It is essential for the diagnosis of CHD that many types are identifiable before birth. Fetal echocardiography is part of the overall fetal screening. The aim is early identification of fetuses with CHD and correct diagnosis, investigation of pathological pregnancies, and proper counseling of the family. The etiology of CHD is complex, with genetic and environmental factors playing a role, the multifactorial influence is still predominant and the exact cause of CHD. The risk factors (RF) for CHD are still being analyzed with unclear conclusions and this project will focus on them. The analysis will use anamnestic data from the medical records of pregnant women who have been and will be examined as part of prenatal screening using fetal echocardiography at the Dep. of Paediatric and Prenatal Cardiology at the University Hospital Ostrava. It will be retrospective data (2006-2024) and prospective follow-up (2025-2028). There will be approximately 53 thousand records, of which the incidence of CHD is estimated to be around 1%. Genetic counseling will be offered to all families on prenatal identification of CHD. In case of termination of pathological pregnancy due to parental decision, a fetal autopsy will follow. For statistical processing, risk factors will be divided into several groups: family RF (prevalence of CHS and other defects in the family, genetic burden); maternal RF (age, maternal illness, maternal medication, drug abuse, exposure to toxins); pregnancy and fetal RF (screening pathology, fetal anomalies, in vitro fertilization); paternal RF. According to the individual factors and their combination, the incidence rate and Risk Ratio with 95% CI of CHD will be calculated. In case of a combination of RF, causal mediation analysis will be performed. Stata v. 18 will be used for the evaluation. |