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Goal is to switch to direct genetic testing, which will allow them to detect 50 genetic diseases. Foto: BoBo


Testing newborns for 20 metabolic diseases

7. September 2018 ob 21:00
Ljubljana - MMC RTV SLO

On October 1, a new national screening programme for newborns will start. Since then, newborns will be tested for 20 metabolic diseases, which will be facilitated by the new equipment, financed by the Ministry of Health.

All 12 Slovenian maternity hospitals will integrate into a single communication system. This is a completely new way of testing, where they can detect a full spectrum of congenital diseases by testing only one single drop of blood. At the same time, everything is ready for an upgrade, which allows them to stand shoulder to shoulder with the best world centers.

So far, newborns have been tested for thyroid hormone deficiency, and for metabolic decease phenylketonuria. However, from now on, babies will be tested for 20 metabolic congenital diseases. Some have been detected by selective tests in case of a milder form of the diseases through a clinical picture, and now the disease will be discovered before anything even happens to the child.

In genetic metabolic diseases, a child is born with a defective single portion of metabolism, explained Battelino. This means that only one amino acid or any other molecule in the liver cannot be metabolized, resulting in accumulations of toxic substances in the body, which damage a particular organ. "By withdrawing the introduction of this single compound, which cannot be metabolized by the body, the clinical picture of these diseases completely disappears," explained Tadej Battelino, head of the Clinical Department of Metabolic Disorders at the Paediatric Clinic UKC Ljubljana.

Since Slovenian hospitals have several informational systems that aren't interconnected, logistic networking is now being built. By the end of this month, 12 Slovenian maternity hospitals will be linked to this system. Their goal is to switch to direct genetic testing, which will allow them to detect 50 genetic diseases. However, they will need an additional equipment for this, and they want it by the end of the year.

Helena Lovinčič, Radio Slovenija; translated by K. Sm.
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