NEWBORN SCREENING FOR INHERITED METABOLIC DISEASES

Giunta Regionale
Direzione Generale Sanità e Politiche Sociali
NEWBORN SCREENING FOR INHERITED METABOLIC DISEASES:
THE NETWORK OF EMILIA-ROMAGNA REGION
M. Volta*, E. Rozzi*, A. Cassio#, G. Biasucci§, F. Righetti#, M.O. Bal#, F. Baronio#, I. Bettocchi#, E. Di Ruscio*
* Servizio Presidi Ospedalieri, Direzione Generale Sanità e Politiche Sociali, Regione Emilia-Romagna
§ Azienda USL di Piacenza, Guglielmo da Saliceto Hospital, Piacenza
# Azienda Ospedaliero-Universitaria di Bologna, Sant’Orsola-Malpighi Hospital, Bologna
INTRODUCTION
To date, in Italy universal newborn screening test is mandatory by law for three diseases, namely phenylketonuria,
congenital hypothyroidism and cystic fibrosis. Since late 70s Emilia-Romagna Region has added two more: galactosemia and congenital adrenal hyperplasia.
Since 2011, thanks to the development of mass spectrometry, with the regional act n.107/2010, the Region has been
offering a further increase in the number of newborn screenings including 21 inherited metabolic diseases (IMD). This
has been done in accordance with the Guidelines of the Italian Society of Metabolic Diseases and Newborn Screening, and with the technical support of the regional medical Center for newborn screening of Bologna as well as the Clinical Referral Centers for metabolic diseases of Piacenza, Reggio Emilia and Modena.
METHODS
Such increase in newborn
screenings required the setup
of a complex and multidisciplinary pathway, for which the
main steps are described in the
Figure 1.
EXPANDED NEWBORN SCREENING: RE-ORGANIZATION
Implementation of technical equipment already available up to a Computer assisted Centralized Laboratory controlling the entire system with real-time connection
among obstetric units, Centralized Laboratory and clinical centers
Centralization and rationalization of the transport of the Guthrie cards
Training of all obstetric units to collect and submit biological samples correctly and
to use the dedicated database correctly
Figure 1
RESULTS
Figure 2.
Figure 3
After the approvation of expanded newborn screening, further steps have been
made in order to organize the complete
pathway of patient with IMD detected with
newborn screening:
- Production of information material for
families (Figure 2);
- Formalization with Regional Act 1898/11 of
the network of care for patients with IMD,
with identification of the Hub at the University Hospital of Bologna and at the USL of
Piacenza (Figure 3); in the same act the
needs for care for young patients with IMD
have been identified with accurate identification of care pathways and involvement
of all actors, as described in Figure 4.
Figure 4
CONCLUSIONS
All the patients with final diagnosis of IMD currently refer to their Hub Clinical Referral Centers for follow-up. The results
of the expanded newborn screening program are periodically monitored and represent relevant clinical and strategical tools to achieve more accurate nosographical and epidemiological data about these diseases, as well as to ensure patients a prompt global care.