Pediatria pre prax 2/2020

New disorders suitable for newborn screening in Slovakia

Newborn screening (NS) is successful prevention programme. In Slovakia, all newborns are screen since 1985. 13 diseases in basic and 10 disease in spread are screened in NS in our country. We can see in Europe and USA trend of disease spread, especially by so far incurable but frequent illnesses. Some diagnosis, such as spinal muscular atrophy (SMA), severe combined immunodeficiency (SCID), X-linked adrenoleukodystrophy (X-ALD), galactosemia, we need to consider the benefit of their screening introducing in Slovakia, with the use of scientific research projects in pilot studies and evaluation the suitability of the project.

Keywords: newborn screening, SMA, SCID, X-ALD, galaktosemia