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Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily

MariaAnna Messina1, Concetta Meli1, Federica Raudino1

  • 1Referral Center for Inherited Metabolic Diseases, Pediatric Clinical, AOU Policlinico-VE, Via Santa Sofia 78, 95123 Catania, Italy.

International Journal of Neonatal Screening
|October 19, 2020
PubMed

Insights

Expanded newborn screening in Eastern Sicily detected 12 true positive cases of inborn errors of metabolism (IEM) between 2011-2017. This program is crucial for identifying rare diseases and improving infant health outcomes.

Area of Science:

  • Medical Genetics
  • Biochemistry
  • Public Health

Background:

  • Newborn screening programs are vital for early detection of congenital disorders.
  • Inborn errors of metabolism (IEM) are a group of rare genetic diseases that can cause severe health problems if not diagnosed and treated early.
  • Sicily implemented expanded newborn screening in 2011.

Purpose of the Study:

  • To report the results of expanded newborn screening for IEM in Eastern Sicily from 2011 to 2017.
  • To evaluate the effectiveness of tandem mass spectrometry (MS/MS) in detecting IEM.
  • To determine the frequency of IEM in the screened population.

Main Methods:

  • Analysis of dried blood spot samples using tandem mass spectrometry (MS/MS).
  • Screening covered selected inborn errors of metabolism, excluding phenylketonuria (PKU).
  • Data collected from January 2011 to December 2017.

Main Results:

  • A total of 60,408 newborns were screened, with 196 positive results (recall rate 0.32%).
  • 12 newborns were confirmed as true positive cases of IEM.
  • The overall frequency of IEM was 1:6041 (excluding mothers) or 1:5034 (including mothers).
  • MS/MS technology significantly increased the detection of IEM, including previously unscreened disorders.

Conclusions:

  • Expanded newborn screening is essential for identifying rare metabolic diseases and preventing underestimation.
  • MS/MS technology has improved the detection rates of IEM in Sicily.
  • Early detection and intervention through screening can lead to improved health outcomes for affected individuals.

Keywords:
inherited diseasesmass spectrometrynewborn screening

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