Newborn Screening

Question 1

What are the 3 parts of hte newborn screen?

Answer 1

1. hearing screen
2. cardiac function (pulse oximetry)
3. blood test

Question 2

When is the heel stick done?

Answer 2

• 24-36 hours after birth
• because they check for inborn errors of metabolism: impact how our bodies process food , so need to wait until the baby has had a chance to eat and the metabolism has had a chance to work

Question 3

What are some of the disorders screened for on Newborn Screening in NYS?

Answer 3

• Phenylketonuria (PKU)
• Inborn errors of metabolism
• Cystic Fibrosis
• Hematological Disorders (sickle cell & thalassemia)
• Congenital Hypothyroidism

Question 4

Urea Cycle Disorders

Answer 4

• a category of inborn metabolism errors
• urea cycle doesn’t work due to missing enzyme/protein
• build up of ammonia - ammonia is neurotoxic
• natural aversion to high protein

Question 5

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD)

Answer 5

• missing or low enzyme that prevents the body from breaking down certain types of fats
• treatment is to eat moer often (need to wake baby to eat every 3 hours)