Paediatria Croatica, Vol. 59 No. 2, 2015.
Pregledni rad
https://doi.org/10.13112/PC.2015.17
Current practice and future perspective of the Prenatal Genetic Service in Slovenia
Marija Volk
; UMC Ljubljana
Nataša Teran
Aleš Maver
Luca Lovrečić
Borut Peterlin
Sažetak
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.
Ključne riječi
genetic testing; genomic aberrations; prenatal diagnosis
Hrčak ID:
142604
URI
Datum izdavanja:
26.6.2015.
Posjeta: 1.383 *