Pediatria pre prax 1/2007

Neonatal screening

Recently the spectrum of neonatal screening in Slovakia has been extended. From the dried blood spot the diagnosis of congenital hypothyroidism, phenylketonuria and of congenital adrenal hyperplasia (CAH) can be made (screening of the inborn error of metabolism). Diagnosis of obstructive uropathy and hip dysplasia by ultrasound has already been used as screening for long time. The introduction of the universal hearing screening and red reflex for the diagnosis of congenital cataract are the latest innovations of the neonatal screening in Slovakia.

Keywords: criteria for screening, inborn errors of metabolism, screening of obstructive uropathy, hearing screening, screening of congenital cataract, screening of hip dysplasia