Babies who may miss being screened include sick neonates transferred from one hospital to another or well neonates transferred from a base hospital to a district or country hospital. Special care must be taken by both hospitals to ensure that a sample is collected. Babies born at home must also be offered a screening test. If the initial sample is taken when the baby is less than 48 hours old a repeat sample will need to be collected later.
If consent to collection and testing is refused, the parents’ reason for their decision should be explored and further information offered. The refusal must be documented in the medical record. Still send the completed card to the screening program with the word “refusal.” If the reason for refusal is known then it can be helpful to include this information for audit purposes. Advice should also be provided about possible disease symptoms and seeking professional help.
It may be useful to collect a sample prior to a neonatal death. Mark the card “neonatal death.”
A reliable sample can still be collected even if oral feeding has not started. However, the feeding status of the infant must be recorded on the card, so the laboratory can test accordingly.
A newborn screening sample must be taken BEFORE any blood transfusion. If this does not occur, a sample should not be taken until at least 48 hours after the transfusion. If a blood transfusion has occurred it is vital that this information is recorded on the card.
Immaturity of the hypothalamic-pituitary axis in very-low-birthweight and preterm infants may initially mask primary congenital hypothyroidism. It is therefore recommended that infants with a birthweight of ≤1500g should have the newborn screening test repeated routinely on Day 14. Infants with a birthweight ≤1000g should have the test repeated again on Day 28. Existing precautions regarding blood transfusion still apply when collecting these samples.
Samples can be applied to the card from a syringe if collected from arterial or venous lines, as long as the standard procedure for sampling from lines is followed. Avoid mixing the sample with anticoagulant (e.g. heparin or EDTA) as this may interfere with some screening tests.
The ability to detect infants with cystic fibrosis is helped if the screening program is notified of any newborn in whom cystic fibrosis is suspected clinically (e.g. meconium ileus) or where there is a family history of the disorder. Record this information on the card.
For infants newly arrived in Australia, screening may be performed up to one year of age.