Neonatal screening

Last updated: Friday, 06, August, 2010
Key InformationAppropriate Tests

All neonates should have blood collected for the government sponsored programme: see Neonatal screen.

Most screening programmes include tests for phenylketonuria, cystic fibrosis, hypothyroidism and galactosaemia.

Some programmes screen for aminoacidaemias and organic acidaemias, or for congenital adrenal hyperplasia.

Consult regional screening laboratory for further information.

Follow up of positive screening test

A specimen of heparinised blood may be required to obtain a definitive diagnosis.

Tests designated * are also used for subsequent monitoring.

Phenylketonuria 

Phenylalanine*. Urine - pterins.

Cystic fibrosis

Sweat chloride; molecular genetics - parents should also be tested if the infant is found to be a carrier, as there is an approximately 4% chance of both parents being carriers.

Hypothyroidism 

TSH*, thyroxine (free)*.

Galactosaemia 

Galactose-1-phosphate*, galactose-1-phosphate uridyl transferase. If these tests are normal: galactose; galactokinase.