Newborn screening is one of the most important preventive public health programmes.
The test involves a simple blood sample taken from each newborn baby’s heel to enable early diagnosis of several genetic diseases, thereby allowing timely, targeted management and treatment. The test, which is free of charge, is done between 48 and 72 hours after birth, directly at the hospital where the baby was born.
In 2016, Italian Law No. 167 extended the newborn screening programme to include around 40 genetic disorders on a nationwide basis, to give all babies born in Italy the same health opportunities and reduce the geographical inequalities that had previously existed.
In recent years, the application of new analytical technology has enabled the development of a test capable of detecting some 40 inherited metabolic disorders, that is, diseases caused by the absence or shortage of one of the enzymes responsible for producing energy in the body. For each of these diseases, a therapeutic treatment capable of improving longevity and quality of life now exists and is available.
28
accredited newborn screening laboratories in Italy
38
diseases targeted by the Expanded Newborn Screening programme
350
infants could receive a life-saving diagnosis* each year
*estimate based on the average number of babies born each year in Italy and the estimated number of those affected by the diseases screened for.
Some genetic diseases are difficult to recognise and can also progress rapidly, causing irreparable damage to the brain or other organs. Detecting such diseases at birth may enable early and targeted management and treatment, even before any symptoms have started to appear, to prevent their progression, which could lead to physical and intellectual disabilities. For many diseases, early intervention can considerably improve the efficacy of therapies and treatment.
Patients can be put on the right treatment and diet immediately
Patients enjoy a better quality of life
Healthcare and social welfare costs are reduced.
Leslie and his son Ciaran, who suffers from Metachromatic leukodystrophy
FAQs about newborn screening
How does the test work?
A small blood sample is taken from the heel of the baby’s foot on the second or third day of life, before being discharged from the Maternity Unit. The sample is collected on a special absorbent paper and is sent, with the information required to confirm the baby’s identity, to the laboratory at the newborn Screening Centre. The test is a non-invasive procedure and there is no risk to the baby.
What does a positive result mean?
If the screening result is positive, the parents will be recalled for further tests, according to the type of disease that is suspected. If the disorder is among those that require immediate clinical intervention, the parents will be asked to take the baby to the Clinical Centre of reference in order to start treatment as soon as possible and for confirmatory tests. If, on the other hand, the condition does not cause immediate degeneration, the baby may be referred for a second test, which might be positive or negative. If the positive result is confirmed, diagnostic testing is performed, using adequate analytical methods, which may confirm the genetic and molecular diagnosis based on the results of the screening test.
What are false positive test results?
A positive screening test result does not necessarily mean that the baby has a disease. It could be due to other factors such as the extremely high sensitivity of the test equipment or the methods used, but also premature birth, low birth weight, postnatal pain, medication or parental diet. These cases, known as “false positive” results, may clearly cause distress for the parents involved, but this aspect is more than compensated for by the benefits for all those infants whose diagnosis is confirmed: the goal of this type of preventive medicine programme is to protect the health of all newborn babies and it should not be intended as an intervention targeting the individual.
What happens if the screening test result is negative?
If the baby screens negative and there is no risk of the disease, the Screening Centre will not usually send the results to the parents. Therefore, when the parents have not heard anything by the time the baby is one month old, they can assume the result was negative. Parents may, if they wish, contact the Screening Centre or Maternity Unit for information about the arrival of the sample, the stage of processing and the test result. Although extremely rare, “false negative” results can occur, owing to technical limits, in which case the test fails to detect a disease.
Do parents need to sign that they consent to the screening?
Screening is free and compulsory; therefore, parents’ informed consent does not have to be obtained. However, parents’ informed consent must be obtained if the Italian Region where the baby was born has added new diseases with respect to the original list of the 40 screened for as established by Law No. 167/2016. Prior to screening, healthcare staff at the Maternity Unit should, as a general rule, provide the family with information about the purposes of the test, the methods used and the diseases screened for; if that is not the case, parents are entitled to request such information.
Where can I find information on the application of screening?
Law No. 167/2016 requires all Italian Regions to extend newborn screening to include the more than 40 disorders covered by the law. According to the report published in 2016 by SIMMESN (the Italian society for the study of inherited metabolic diseases and newborn screening), only half of newborn babies in Italy were included in this screening programme; however, the situation has gradually improved since then and the whole of Italy should be covered by the first half of 2018. The list of Screening Centres in each Italian Region can be consulted on the SIMMESN website.
What are the criteria for including a disease in the list of those screened for?
Key criteria are based on the severity of the disease, the existence of a reliable screening test and the availability of nutritional and/or pharmacological treatment capable of improving quality of life and longevity.
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