In this section
Newborn screening testing commenced in Victoria in 1966, when screening was introduced for Phenylketonuria. Since then, screening has expanded to testing for Congenital Hypothyroidism, Cystic Fibrosis, and over 20 rare conditions. These tests ensure early detection and treatment of these conditions.
This guideline provides an outline for medical and nursing staff to perform screening tests for newborn infants at the Royal Children's Hospital.
All newborn infants are screened regardless of gestational age, weight, feeding or health status between 48 and 72 hours of life. Palliated infants: A sample should still be obtained on palliated infants. This may help to exclude diseases which may have implications for the family in future pregnancies. If the sample is taken after the infant dies, write in red on the screening card that it is a "post-mortem" or “peri-mortem” sample as there is a marked difference in the metabolic profile between a live and a deceased infant.
In certain circumstances further screening is required:
Blood Sampling Table
All infants (including palliative infants)
48 - 72 hours
Infants who have received blood transfusions/exchange transfusions, platelets, FFP, albumin, within the 1st 48-72 hours of life i.e. before first Newborn Screen Test is completed
Obtain sample pre-transfusion (even if < 48 hours of age)If 1st Newborn Screen Test is completed < 48 hours, then need to collect 2nd sample > 48 hours post last blood product - and need to obtain 3rd sample
Birth weight < 1000 grams
3 weeks (however if blood transfusion received after first sample, obtain repeat sample when there is a 3 week gap after receiving blood product) **
weight < 1500 grams
2 weeks (however if blood transfusion received after first sample, obtain repeat sample when there is a 3 week gap after receiving blood product) **
Infants who have had transfusion of blood products within the 1st 48-72 hours of life (before first Newborn Screen Test is completed)
3 weeks post last blood product **
** If collection is delayed due to the infant receiving multiple transfusions, it is acceptable to delay repeat sample, however do not delay repeat collection for too long:Birth weight < 1000 grams: repeat sample no later than 6 weeksBirth weight 1000 grams-1500 grams: repeat sample no later than 4 weeks
If in doubt or you have any queries, contact the Newborn Screening Laboratory: extension 16272
If parents refuse to have the test the following steps should be followed:
Newborn Screening Evidence Table
Please remember to read the disclaimer.
The revision of this clinical guideline was coordinated by Sharlene Pattie, Clinical Nurse Educator, Butterfly Ward. Approved by the Clinical Effectiveness Committee. Authorised by Bernadette Twomey, Executive Director Nursing Services. Current as of August 2016.