007 - Newborn screenings

Autor(s): P. Cavarzere, R. Gaudino, L. Tatò

Issue: RIMeL - IJLaM, Vol. 3, N. 1, 2007 (MAF Servizi srl ed.)

Page(s): 7-12

Newborn screening is nowadays an essential component of preventive public health. After a first mass screening program for phenylketonuria in 1963, in the mid- 1970s there was an expansion of newborn screenings to numerous disorders and now in Italy neonatal screening for phenylketonuria, congenital hypothyroidism and cystic fibrosis are mandatory by law. The advent of Tandem Mass spectrometry makes it possible to test newborns for multiple inherited disorders but this method is still the subject of controversies. In our screening centre we analyse all newborns from North-Eastern Italy for different congenital diseases. In particular, we will expose in this paper over a decade’s worth of experience in neonatal screening for congenital hypothyroidism, and our promising results in congenital adrenal hyperplasia screening.

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