Purpose of screening

  • To identify babies with screened for disorders as early as possible so as to enable early treatment.

  • To reduce the chance of illness, disability and even death in babies with one of the screened for disorders.

Background

Newborn metabolic screening began in the 1960s when scientists developed blood on paper as an analytical specimen and a test to measure phenylalanine in infants to identify those with phenylketonuria (PKU).

Professor Bob Guthrie spent time in New Zealand with Professor Arthur Veale, who founded the newborn metabolic screening programme in New Zealand.  Dr Dianne Webster now leads the service based at LabPLUS at Auckland City Hospital.Health New Zealand | Te Whatu Ora has responsibility for the funding, monitoring and strategic direction of the programme.Each year almost all babies born in New Zealand are screened for over 20 metabolic disorders. Every year the programme identifies around 60 babies who have one of these disorders.

Screened for disorders

The disorders screened for are rare, usually inherited disorders in which the pathways that produce certain proteins malfunction.

These pathways are like assembly lines in a human cell. A blockage at any point along the assembly line can lead to a build-up of toxic chemicals in the cell or a lack of an important protein or enzyme in the body. This can lead to an illness that is often irreversible, as many of the chemicals that build up in a cell as a result of a metabolic disorder can cause ill health, learning disabilities or death.Metabolic disorders at birth are not easily detected without screening and if symptoms present prior to diagnosis the chance of ongoing illness, disability or even death are higher.

The benefits of screening

For the few who are diagnosed through the screening programme, the benefits of screening are enormous. Early treatment can improve their health and prevent severe disability and even death.

Treatment

Treatment often takes the form of a special diet to reduce the amount of chemicals building up in the body. Sometimes it means ongoing medication.

NMSP Technical Working Group

The Newborn Metabolic Screening Technical Working Group meets two to three times per year to consider technical and clinical aspects and provide advice to Health NZ | Te Whatu Ora. The group comprises members who collectively have a wide knowledge and experience of newborn metabolic screening, including health practitioners and representatives of professional organisations.