Unique Regional Center for Newborn Screening LAB

Every year in Italy, one in 2,000 newborns is born with a hereditary metabolic disease. They are rare diseases that do not allow those affected to transform into substances such as proteins, sugars or fats contained in food or products inside cells. This implies an alteration of the cellular metabolic mechanisms with important consequences for the child's state of health.

The timely diagnosis of an inherited metabolic disease allows doctors to be able to adopt, since the early days of life, therapies necessary to improve the course of disease and prevent serious complications.

Thanks to the extended neonatal screening can be identified at birth 38 inherited metabolic diseases before they can occur in order to avoid the child irreversible damage.

The extended neonatal screening test is quick, safe and non-invasive. At all Birth Points of the Campania Region, between the second and third day of life, a few drops of blood are taken from the heel of the newborn and absorbed on a special cardboard.

The sample is sent from the Birth Point to CEINGE where the screening test is performed and the diagnostic confirmation of the 38 pathologies identified by the Italian Ministry of Health.

The result of the screening test is available a few days after the withdrawal. It is possible that in the first month of life the newborn will be recalled from the Birth Center for a repetition of the screening test.

The repetition of the screening test could be associated with an unsuitable withdrawal method and, therefore, a possible recall does not necessarily mean that the child is sick. Only in case of confirmation of the diagnosis, the result can be considered positive.

If the result of the screening test is positive, parents are called up for the clinical evaluation of the infant from U.O.C. of General Pediatrics of the A.O.U. Federico II for further diagnostic assessment surveys. The diagnostic confirmation is performed at CEINGE.

If confirmed, the U.O.C. of General Pediatrics of the A.O.U. Federico II provides dedicated services and activities for the global management of the newborn with inherited metabolic disease, including clinical assistance, constant monitoring and the use of appropriate therapeutic strategies.

CEINGE has completed the network of all Birth Points of the Campania Region and carries out the SNE for all the newborns of Campania. It has also developed an IT system for managing the screening process in its pre-analytical, analytical and post-analytical phases, also including the results of internal quality control programs. With this system in Campania today, Birth Points, TINs, the neonatal screening laboratory and clinicians are connected and are able to follow the entire screening process uniformly, including the phases of taking charge of the positive newborn.