Current practice and future perspective of the Prenatal Genetic Service in Slovenia

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: genetic testing; genomic aberrations; prenatal diagnosis
Category: Review
Volume: Vol. 59, No 2, april - june 2015
Authors: Volk M., Teran N., Maver A., Lovrečić L., Peterlin B.
Reference work: Paediatr Croat. 2015;59:106-11
DOI: http://dx.doi.org/10.13112/PC.2015.17

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