Newborn Screening: Are We Ready for It?

The newborn screening (NBS) programme is a complex and organised system consisting of family and personal education, biochemical tests, confi rmatory biochemical and genetic tests, diagnosis, therapy, and patient follow-up. The programme identifi es treatable metabolic disorders, possibly when still asymptomatic, by using dried blood spot (DBS). Over the last 20 years, tandem mass spectrometry (TMS) has become the leading technology in NBS programmes and has been shown to be versatile, sensitive and specifi c. There is consistent evidence of benefi ts from NBS for many disorders detected by TMS as well as for congenital hypothyroidism, cystic fi brosis and congenital adrenal hyperplasia by immune-enzymatic methods. Some methods were developed for the detection of lysosomal storage disorders (LSDs), and even if for some of them there is a reliable and relatively simple test, a reasonable associated therapy may still not be available. Therefore the inclusion of LSDs in NBS is still under debate.