Open access
Peer reviewed journal

Actual Gynecology
and Obstetrics


Genetically determined diseases of the fetus in the practice of the Department of reproductive medicine and genetics (article in Czech)
Alena Derbak, Marcel Hasch, Petra Přikrylová, Filip Berger, Jan Malimánek, Claudia Štuksová, Jana Veselíková, Pavlína Moskurová, Michela Česáková, Andrea Volfová, Vojtěch Bráborec, Jakub Horák, Petr Uher
Actual Gyn 2023, 15, 37-45
Publication date: 2023-06-09
Manuscript ID: 1523009
Počet zobrazení: 2642

The aim of the study was to analyze the results of the screening for birth defects, genetically determined diseases and preimplantation genetic testing of embryos.

Methods: Retrospective analysis of health services for 2,637 pregnant women from January-December 2022.

Results: In screening for birth defects and genetic fetal diseases, 216 woman were found to have an abnormality requiring further clinical management, 15 (7%) of them were diagnosed with a congenital fetal developmental defect. Among 377 ovarian punctions performed within IVF cycle, preimplantation genetic testing (PGT) was indicated in 48 (12.7%) cases and in 19 (5%) cases PGT was indicated on account of a genetic disorder.

Conclusion: screening for congenital developmental defects and genetic diseases allows subsequent management of the detected pathologies through preimplantation genetic testing of embryos when planning the next pregnancy or planning adequate prenatal diagnosis of future pregnancies. 

Key words: congenital defect, genetic disease, fetus, reproductive medicine, preimplantation genetic testing of embryos, national registry, prenatal diagnosis