Neonatal screening: current trends and quality control in the United Kingdom

Area of Science:

• Biochemistry
• Genetics
• Public Health

Background:

• Universal newborn screening in the UK covers phenylketonuria (PKU) and congenital hypothyroidism (CHT) via heel prick blood tests.
• Current screening programs also include sickle cell disorders, cystic fibrosis, Duchenne muscular dystrophy, and galactosaemia in specific regions.
• The landscape of inherited metabolic disorders (IMDs) has expanded significantly since PKU screening began, with major treatment advancements like transplantation and drug therapy.

Discussion:

• Technological advancements, particularly tandem mass spectrometry (MS/MS), offer new possibilities for expanding newborn screening using existing heel prick samples.
• There is a compelling argument for incorporating MS/MS into newborn screening for specific, well-defined IMDs with adequate specificity and diagnostic confirmation.
• Any expansion of newborn screening to a wider array of disorders necessitates a cautious approach, preferably through pilot studies with robust monitoring.

Key Insights:

• Tandem mass spectrometry (MS/MS) presents a viable technological advancement for enhancing newborn screening capabilities.
• Careful selection of disorders for expanded screening is crucial, prioritizing those with clear diagnostic criteria and validated tests.
• The established quality control programs for PKU and CHT screening provide a foundation for future screening initiatives.

Outlook:

• Prioritizing the consideration of additional inherited metabolic disorders for screening is an important next step.
• Future newborn screening strategies should leverage technological innovations like MS/MS for broader and more accurate detection.
• Careful implementation and monitoring of pilot programs are essential for the successful integration of new screening tests for a wider range of IMDs.