neonatal_blood_spot_screening_flashcards
1
Q
What is neonatal blood spot screening also known as?
A
Previously called the Guthrie test or ‘heel-prick test’.
2
Q
When is neonatal blood spot screening performed?
A
At 5-9 days of life.
3
Q
What conditions are currently screened for in neonatal blood spot screening?
A
Congenital hypothyroidism, cystic fibrosis, sickle cell disease, phenylketonuria, medium chain acyl-CoA dehydrogenase deficiency (MCADD), maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1), homocystinuria (pyridoxine unresponsive) (HCU).
