Newborn Genetic Screening

Question 1

What is Newborn Genetic Screening?

Answer 1

-Newborn genetic screening is a health program that identifies treatable genetic disorders in newborn infants.

-Early intervention to treat these disorders can eliminate or reduce symptoms that might otherwise cause a lifetime of disability.

Question 2

Newborn blood spot (heel prick) test

Answer 2

-The newborn blood spot test involves taking a small sample of your baby’s blood to check it for 9 rare but serious health conditions.

Question 3

Which conditions is the blood spot test for?

Answer 3

1. Sickle cell disease
2. Cystic fibrosis
3. Congenital hypothyroidism
4. Inherited metabolic diseases
5. Severe combined immunodeficiency (SCID)

Question 4

Babies are screened for 6 inherited metabolic diseases. These are:

Answer 4

1. phenylketonuria (PKU)
2. medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
3. maple syrup urine disease (MSUD)
4. isovaleric acidaemia (IVA)
5. glutaric aciduria type 1 (GA1)
6. homocystinuria (pyridoxine unresponsive) (HCU)