Survey of Italian pediatricians’ perspectives and knowledge about neonatal screening

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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13052-015-0147-1) contains supplementary material, which is available to authorized users.