🔑 Key Learning

  • Performed on all newborns in the UK at 5 days old
  • Enables early detection of serious but treatable conditions
  • Most screened conditions are autosomal recessive
  • Congenital hypothyroidism is typically sporadic, not inherited
  • Early diagnosis allows for timely intervention and improved outcomes

🧪 Conditions Screened

🩸 Haemoglobinopathies

  • Sickle Cell Disease (SCD)

🫁 Respiratory/Multisystem

  • Cystic Fibrosis (CF)

🧠 Endocrine

  • Congenital Hypothyroidism (CHT)

⚙️ Inherited Metabolic Diseases (IMDs)

  • Phenylketonuria (PKU)
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
  • Maple Syrup Urine Disease (MSUD)
  • Isovaleric Acidaemia (IVA)
  • Glutaric Aciduria Type 1 (GA1)
  • Homocystinuria (HCU)