In Lombardy, screening of newborns to investigate spinal muscular atrophy

A new diagnostic test for newborns in Lombardy. Since last September 15th, the procedure has been carried out in the neonatal departmentsor screening investigating spinal muscular atrophy (SMA).

«The test, which has no contraindications and is non-invasive, is carried out on a few drops of blood taken from the newborn’s heel, 48/72 hours after birth – observes the Dr. Mario Barbarinihead of the Nursery and Neonatal Pathology as well as the Neonatal Intensive Care Unit of Asst Lariana – It is fundamental and important because the analysis of these drops then allows for the early identification of some congenital diseases, preventing or limiting serious damage and consequences”.

«Spinal muscular atrophy (SMA) – adds the Dr. Angelo Selicorni, head of Asst Lariana at the Sant’Anna Paediatrics hospital – Mariani Foundation Center for fragile children – it is a disease for which, thanks to the research today we already have effective therapies which, especially if started early, radically modify the natural history of the disease.”

What is newborn screening

Newborn Screening, active in Lombardy, is an important preventive medicine intervention through which it is possible to identify some congenital diseases, even very rare ones, which if not recognized early could negatively affect the child’s development. Thanks to early diagnosis it is possible to intervene promptly, before the symptoms appear, avoiding serious consequences on the child’s health.

How it is done

newborn screening is carried out on a few drops of blood taken from the newborn’s heel between the second and third day of life (48/72 hours), collected on a special absorbent card called Guthrie card. The sample obtained, taken by the Birth Center operators, is sent to the Regional Reference Laboratory for analysis and is used for all screening programs. The test has no contraindications: it is not invasive and cannot harm the child in any way. Furthermore, during the sampling, maximum comfort is guaranteed to the newborn.

What are the pathologies subject to newborn screening?

The pathologies investigated by neonatal screening in the Lombardy Region belong to four groups: endocrine diseases (Congenital Hypothyroidism and Congenital Adrenal Hyperplasia), cystic fibrosis, hereditary metabolic diseases (NES) and genetic neuromuscular diseases (Spinal Muscular Atrophy). These are rare diseases (i.e. they affect no more than one person in 2,000), congenital (i.e. already present at birth) and, often, hereditary.

Why it is important to subject your child to this screening

Newborn screening is the fundamental stage of a process that allows for the rapid identification of rare diseases which, if identified in the first days of life, can be treated, avoiding serious, sometimes even fatal, consequences for the newborn. It is therefore vital that all newborns undergo this test to guarantee their right to health. The start, from the first days of life, of a dietary and pharmacological therapy allows you to prevent or limit damage from the accumulation of toxic substances before the onset of symptoms of the disease, significantly improving the child’s quality of life.

The test results

If the result is negative, the test allows us to exclude, with reasonable certainty, the pathologies examined; if positive it does not mean that the newborn is sick but only indicates a suspicion of illness. In this case, it will be essential to immediately carry out further tests to confirm or exclude the suspicion of pathology.

NEGATIVE OUTCOME: if the test is negative you will not be contacted.

CONFIRMATION TEST: if the first analysis shows a potential risk profile you will be contacted to repeat the test. In this case, do not be alarmed: repeating the test does not mean that your child is ill.

SUCCESSFUL: in case of positivity confirmed by laboratory tests, you will be contacted by the Neonatologist of the Birth Center and you will be supported by a Clinical Reference Center specialized for the pathology. The Clinical Reference Center will take care of the newborn and the family, placing you in the most suitable treatment path.

How to join the screening program

The newborn screening program is a preventive medicine activity about which parents are made aware, before execution, by the Birth Center staff, who will deliver information material on how to carry out the test and consent.

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