Newborn Metabolic Screening Programme
Since that time developments in both technology and knowledge about metabolic disorders as well as treatments available, has led to developments in screening so that we are now screening for over 20 disorders.
Purpose of screening
- To identify babies with metabolic disorders as early as possible so as to enable early treatment.
To reduce the chance of illness, disability and even death in babies with metabolic disorders such as hypothyroidism and PKU.
Newborn metabolic screening began in the 1960s when scientists (notably Professor Bob Guthrie), developed blood on paper as an analytical specimen and a test to measure phenylalanine in infants to identify those with phenylketonuria (PKU). Professor Guthrie spent time in New Zealand with the late Professor Arthur Veale, the founder of newborn metabolic screening in New Zealand. Dr Dianne Webster now leads the service based at LabPLUS at Auckland City Hospital.
The NSU 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. About 50 newborns each year are found to have one of the metabolic disorders screened for.
Metabolic disorders 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 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 Governance Team and Technical Group
The Newborn Metabolic Screening Programme Governance Team provides advice to the NSU on the operation and strategic direction of the programme. The Governance Team meets annually and has a smaller Technical Group which meets two to three times per year to consider technical and clinical aspects. The Governance Team comprises members who collectively have a wide knowledge and experience of newborn metabolic screening, including health practitioners, representatives of professional organisations and consumers.
In this section
These guidelines are for all practitioners involved in aspects of the Newborn Metabolic Screening Programme (NMSP), including Lead Maternity Carers (LMC's), hospital midwives, nurses and phlebotomists.
The National Screening Unit (NSU) has developed a new e-learning module, Best Practice – Newborn Metabolic Blood Spot Collection, and updated four others.
The Newborn Metabolic Screening Programme (NMSP) Technical Group supports the National Screening Unit to provide high quality and accessible screening.
Answers to some commonly asked questions about the Newborn Metabolic Screening Programme.
Access consumer resources relating to the Newborn Metabolic Screening programme. To order lancets, blood spot cards and FastPost envelopes for Newborn metabolic screening; email [email protected] or call 09 307 4949 extn 23806.
Newborns are now being tested for severe combined immune deficiency as part of the Newborn Metabolic Screening Programme.
Delayed transit of newborn metabolic screening samples carries considerable risks for babies born with one of the screened disorders. This is a page for DHB's and lead maternity carers, find out the latest transit times reports, resources and tools designed to support you to improve transit times. "A baby's life may depend on it".