Information for Paediatricians
Expanded newborn screening allows us to screen for several inborn errors of metabolism, including amino acid disorders, organic acidurias and fatty acid oxidation defects.
It is important to note that the newborn IEM test is only a screening test and is not diagnostic, nor can it detect all possible conditions that may affect a newborn. If any clinical suspicion of an inborn error exists the patient should be investigated thoroughly regardless of the screening results.
Ideally samples should be collected between 24 and 72 hours and sent to lab within 24 hours of collection for early detection and therefore treatment of these conditions.
Follow up of Abnormal Results
If the result shows no significant abnormality no further action is taken. If there is an abnormality then follow up samples are requested. The manner in which they are requested depends upon the urgency and severity of the abnormality.
If there is a slight abnormality such as a marginal elevation in a metabolite of a disorder which does not usually present acutely then the lab faxes the result and phones the relevant appointed laboratory contact to arrange a repeat blood spot. This test is free of charge. (For some conditions, for example, fatty acid oxidation defects, a plasma acylcarnitine is more useful at this point and a plasma sample is requested rather than a repeat blood spot.)
If there is a marked abnormality or if the abnormality is associated with a condition which decompensates early in the newborn period then, in addition to the lab making contact with the appointed person, the metabolic clinician will contact the responsible paediatrician and discuss the case with them, outlining the possible diagnosis and how to investigate further. We would encourage the paediatrician to contact the family to review the child urgently or refer them to the metabolic team at KKH for further review. In these circumstances it is likely that further tests such as plasma amino acids and urine organic acids will be needed to further investigate the possibility of an inborn error of metabolism. If the child is referred to KKH then all further samples are free of charge. This also includes any samples sent overseas to confirm the underlying enzyme deficiency on fibroblasts or genetic mutations.
In the case of a definite IEM being diagnosed we offer a shared care model with the referring paediatrician. This entails all general paediatric care such as vaccinations and developmental checks being carried out by the referring paediatrician and visits to the KKH clinic limited to advice about management of the IEM.
Cystic Fibrosis
Samples for CF screen will be sent to NZ for testing. One of the spots from the Guthrie card collected for the IEM screen will be forwarded and results communicated by us once reports available. The results for CF are normally available within 2 weeks of collection and a separate report is generated. Symptoms of CF do not manifest this early and therefore TAT not so critical – or something.
Resources
Tests available
| Newborn IEM screen only |
S$70.00 * |
| Newborn IEM screen plus galactosaemia |
S$85.00 * |
| Newborn IEM screen plus CF&Gal |
S$135.00 * |
* 'A' Class Rate
If a sample was not collected from your baby and you would like to have the test done, please contact the hospital/paeditrician where your baby was delivered to arrange for the test. However, it is also possible to contact our nurse coordinator on 81217855 and arrange for sample collection at one of our walk-in clinics at KKH.