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Updated: Apr 11, 2026
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Survey of Italian pediatricians' perspectives and knowledge about neonatal screening
Alberto B Burlina1, Giovanni Corsello2
1Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening Regione Veneto, Department of Pediatrics, University Hospital, Padova, Italy. alberto.burlina@unipd.it.
Insights
Italian pediatricians show good general knowledge of newborn screening but need more training for expanded programs. This ensures better care for infants and informed families during the screening process.
Area of Science:
- Medical Genetics
- Pediatrics
- Public Health
Background:
- Newborn screening (NBS) identifies at-risk infants for early intervention, preventing severe consequences of untreated inherited diseases.
- Advances in genetic testing, like tandem mass spectrometry, enable expanded NBS panels.
- Efficient follow-up systems are crucial for managing diagnosed infants, as expanded NBS is not universally available in Italy.
Purpose of the Study:
- To assess Italian pediatricians' familiarity and opinions on general and expanded NBS.
- To understand their perceived knowledge gaps regarding expanded NBS.
Main Methods:
- A survey was distributed online to 9000 members of the Italian Association of Pediatricians.
- A 10-item questionnaire was used to gather data on their knowledge and opinions.
- The survey achieved a 10% response rate, with 605 active members participating.
Main Results:
- Most respondents (91.1%) felt knowledgeable about general NBS, but only 59.6% felt confident about expanded NBS.
- Expanded NBS was not available in the regions with the highest survey response rates.
- Pediatricians' role is vital for coordinating care and informing families.
Conclusions:
- Implementing universal expanded NBS requires robust follow-up, diagnostic, and treatment protocols.
- Pediatricians may require additional training to effectively manage expanded NBS programs and support families.
- Ensuring universal access to expanded NBS is essential for infant health outcomes.
Background:
The goal of newborn screening is early identification of babies with a high risk for disorders that may not be clinically evident at birth, but have severe consequences if untreated. New insight into inherited diseases and the ability to test for numerous diseases using new technique such as tandem mass spectrometry have made it practical to greatly expand the number of conditions tested. The expanded neonatal screening is now available and relatively simple, but this represents only a part of the picture. Positive results require follow-up confirmation. Most disorders screened require confirmatory biochemical or genetic tests and specialist visits. An efficient system is needed for managing the care of affected newborns. Expanded newborn screening is not yet available in all Regions of Italy, but discussions aimed at organizing universal access are underway. If these are successful, the role of the pediatrician as the primary contact with the parents is expected to become even more important.
Methods:
We have conducted a survey of Italian pediatricians to assess their familiarity and opinions on newborn screening in general and on expanded newborn screening. All members of the Italian Association of Pediatricians (n = 9000) were invited to compile a 10-item questionnaire online.
Results:
The response rate was 10 %, corresponding to 605 of 6000 active members. Respondents were from all Regions of Italy, with the highest number of responses coming from Lombardy (138, 22.8 %), Campania and Puglia (n = 61; 10.1 %). Interestingly, expanded neonatal screening was not available in any of these Regions at the time of the survey. Regarding their understanding of neonatal screening in general, most respondents (n = 552; 91.1 %) considered that they had at least a sufficient level of knowledge; however, only 59.6 % thought they had sufficient knowledge of expanded newborn screening.
Conclusions:
Successful implementation of a universal expanded NBS program will require efficient procedures for follow-up, diagnosis and treatment to prevent morbidity and mortality of infants and to reduce the period of uncertainty for unaffected families. Pediatricians may need additional training to allow them to fulfill their tasks of coordinating this process while keeping families informed and reassured.
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