Austrian Newborn Screening Program: a perspective of five decades

Area of Science:

• Medical Genetics
• Pediatrics
• Public Health

Background:

• The National Austrian Newborn Screening Program began in 1966.
• Over five decades, it has screened nearly four million infants.
• More than 2600 infants have been diagnosed with metabolic and endocrine disorders.

Purpose of the Study:

• To review the evolution of Austria's newborn screening program.
• To identify future screening targets and challenges.
• To highlight advancements in detecting inborn errors of metabolism and endocrine disorders.

Main Methods:

• Historical review of the Austrian Newborn Screening Program.
• Description of program expansion and technological advancements.
• Analysis of screening outcomes and detected disorders.

Main Results:

• The program has expanded from initial tests like phenylketonuria and galactosemia to include congenital hypothyroidism, biotinidase deficiency, cystic fibrosis, and congenital adrenal hyperplasia.
• Tandem mass spectrometry, introduced in 2002, significantly broadened the scope to include fatty acid oxidation disorders, organic acidurias, and amino acid metabolism disorders.
• Over 2600 infants have been diagnosed with various inborn errors.

Conclusions:

• The Austrian newborn screening program has a long history of success in early detection and prevention of serious health conditions.
• Technological advancements, particularly tandem mass spectrometry, have greatly enhanced the program's capabilities.
• Continued expansion and adaptation are necessary to address emerging screening targets and overcome future challenges.