Expanded Newborn Screening in Italy: The First Report of Lombardy Region

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Newborn screening (NBS) is vital for early detection of inborn errors of metabolism (IEMs) in asymptomatic infants.
• Early identification of IEMs reduces the risk of severe, long-term health complications.
• This study focuses on the initial years of an expanded NBS program in Lombardy, Italy.

Purpose of the Study:

• To report the incidence and distribution of IEMs in the Lombardy region.
• To evaluate the effectiveness of the expanded NBS program from 2016-2020.
• To establish baseline data for IEM prevalence in a large newborn population.

Main Methods:

• Dried blood spots collected from 343,507 newborns (48-72 hours post-birth).
• FIA-MS/MS analysis for biochemical markers.
• Genetic confirmation (Sanger or NGS) and reporting to a clinical reference center.

Main Results:

• 209 newborns diagnosed with IEMs out of 343,507 screened.
• 1208 false positive cases identified.
• Twenty-seven types of IEMs detected, including aminoacidemias, urea cycle disorders, organic acidemias, and fatty acid oxidation disorders.

Conclusions:

• This is the first report on IEM incidence and distribution in Lombardy using expanded NBS.
• The findings highlight the importance of continued NBS for early IEM diagnosis.
• Data provides a foundation for regional public health strategies concerning IEMs.