The Newborn Metabolic Screening Programme is one of the most successful screening programmes in New Zealand.
Each year almost all babies born in New Zealand are screened (about 64,000), and approximately 45 babies are identified with and treated for a metabolic disorder.
When metabolic disorders are diagnosed early, treatment can be started straight away. This can reduce the chance that baby will experience brain or other permanent damage which in some cases can be life-threatening.
Screening identifies babies who are more likely than others to have the metabolic disorders screened for. These babies are then referred for diagnostic testing to confirm or rule out a disorder.
Metabolic disorders are not easily detected without screening because many of the symptoms are non-specific and look like other more common conditions. Some of the disorders do not show any symptoms at all until after damage has occurred. In some of these cases damage is not able to be repaired. Screening means that metabolic disorders can be diagnosed before a baby gets sick.
Screening for metabolic disorders has been in place in New Zealand for over 40 years. Over that time advances in screening and in availability of treatment for diagnosed babies has meant that more conditions are included in the screening programme. We now screen for over 20 conditions.
The National Screening Unit (NSU) of the Ministry of Health has responsibility for the funding, monitoring and strategic direction of the Newborn Metabolic Screening Programme. The programme is currently run at the Auckland District Health Board laboratory (LabPLUS) at Auckland City Hospital.