Screening for congenital defects and genetic diseases of the fetus at University Hospital in Olomouc and sending/reporting to the National register of reproductive health in the Czech

objective: The aim of the study was to analyze the results of the screening for congenital defects (CD) and genetic diseases (GD) of the fetus in the Fetal Medicine Centre at the Department of Obstetrics and Gynecology, University Hospital in Olomouc. Materials and methods: Prospective cohort study. In the period from 1 January 2020 to 31 December 2021, a total of 14,460 health services were performed on 4,916 pregnant women. Within the screening of CD and GD of the fetus, 501 pregnant women were found to have an abnormality requiring further clinical management, 170 of them were dia gnosed with a CD of the fetus and in 20 cases a GD of the fetus was dia gnosed by a laboratory genetic examination. All dia gnosed fetal CD and GD were sent/ reported according to the valid methodology of the National health information system (NHIS) to the National register of reproductive health (NRRH) to the CD Module. Results: An increased calculated individual risk of genetic fetal disease was dia gnosed in the first trimester of pregnancy in 10.7% of fetuses (319/ 2,968), and in the second trimester in 0.9% of fetuses (27/ 2,948). Nuchal translucency (NT) > 3.5 mm was dia gnosed in 0.9% of fetuses by ultrasound examination in the first trimester of pregnancy (26/ 2,968). In fetal CD and GD screening, 501 pregnant women were found to have an abnormality requiring further clinical management, 72.1% of women (361/ 501) had an increased risk of genetic fetal disease, and dia gnostic examination of the fetal genetic material obtained by invasive procedure (chorionic villus sampling or amniocentesis) was indicated. A total of 31.3% of them (113/ 361) refused the invasive procedure and 2.5% (9/ 361) did not attend the planned procedure; the invasive procedure was performed in 66.2% (239/ 361). Conclusion: Comparing the results of CD and GD fetal screening in our medical facility with other specialized medical facilities in the Czech Republic is currently diffi cult to but information from the NRRH could allow and in the future.