Author/Editor     Volk, Marija; Teran, Nataša; Maver, Aleš; Lovrečić, Luca; Peterlin, Borut
Title     Current practice and future perspective of the Prenatal Genetic Service in Slovenia
Type     članek
Vol. and No.     Letnik 59, št. 2
Publication year     2015
Volume     str. 106-111
Language     eng
Abstract     Prenatal genetic testing is under the remit of the National Health Service in Slovenia and has been included in clinical routine since the 1980s. Traditionally, prenatal services have consisted of karyotyping and rapid fetal aneuploidy screening to detect chromosome abnormalities, whereas targeted mutation testing was used for single gene disorders. Development of array comparative genomic hybridization and next generation sequencing allows for genome analysis at better resolution in a single experiment. While technological advances in medicine continue to evolve, increasing diagnostic accuracy and broadening the spectrum of indications, all these innovations require more investment along with more equipment and higher staffi ng rations trained to use it, placing burden upon healthcare funding and expenditure. This prompts us to consider how to implement new techniques into the existing services in order to update genetic services for the 21st century. Our aim is to develop a new approach to prenatal genetic services, which would maximize diagnostic yield at an acceptable cost.
Keywords     genetsko testiranje
genomske aberacije
prenatal diagnosis
genetic testing
genomic aberrations
prenatal diagnosis