Clinical Referral Guidelines

Clinical referral guidelines have been published for newborn bloodspot screening in Wales.  The clinical referral guidelines for each condition are below.

• Congenital hypothyroidism (CHT)
• Sickle cell disorders (SCD) 
• Cystic Fibrosis (CF)

Inherited metabolic disorders (IMDs):

• Medium-chain acyl CoA (MCADD)
• Phenylketonuria (PKU)
• Maple syrup urine disease (MSUD)
• Isovaleric acidaemia (IVA)
• Glutaric aciduria type 1 (GA1)
• Homocystinuria (HCU)