NSW Newborn Screening Program

Contact

General number: (02) 7825 3659 

Clinical nurse consultant: (02) 7825 3255 

Acting Principal Scientist: (02) 7825 3257 

Email: NSWH-NewbornScreening@health.nsw.gov.au

Location: Building 5 (Diagnostic Services Block), Level 1, The Children's Hospital at Westmead

About our service

The Newborn Screening is a heel prick test that is performed on babies in their first few days of life. 

This test can detect early signs of a number of congenital metabolic disorders. Detecting these conditions early means that the child can commence care and treatment for their condition as soon as possible.

Each year the Newborn Screening Program tests over 100,000 babies and detects about 100 who need urgent assessment and treatment. 

Newborn screening tests are free. The tests are not compulsory, and parents may refuse the test on behalf of their baby, but this could unnecessarily risk the baby's health. 

 

Laboratory services

Our service plays a number of important roles in the screening of infants and the education of health professionals.

  • Our laboratory tests blood samples from babies born in NSW and ACT for congenital metabolic disorders and ensures that babies detected by the screening tests receive appropriate investigation and management by the attending physicians.
  • We provide an advisory service for the further investigation and management of babies detected by screening tests. This is further outlined in some of the fact sheets.
  • We monitor the progress of babies, children and adults detected with metabolic disorders.
  • We provide services to interstate and overseas screening laboratories.
  • Staff training is a high priority. The senior laboratory staff engages in training programmes for professionals from other screening programmes in various SE Asian countries.

Results and resample requests

As a routine, all primary results are available at midday, 24 hours after receipt of sample. Results requiring urgent follow-up are telephoned, e-mailed and/or facsimiled to the clinician nominated by the hospital of birth as responsible for the baby.

Only when babies require a further investigation due to abnormal or unsuitable samples is an individual hard copy report sent to the collection source. Otherwise, every two weeks a 'Confirmation Report' is sent to each hospital of birth to indicate babies from whom samples have been received. This report also indicates those requiring re-samples.

If re-samples are not received within two weeks, a repeat request letter is sent.

Records and data collection

The service is computerised. A record of blood spot samples received is stored on computer from 1989. From 1993, all sample details and results are stored. All results before 1993 need to be obtained by manual search of hard copy files.

Hard copies of all written reports are kept on file for a minimum of 2 years. Inborn Error Registers are kept on computer and in hard copy.

Sample storage

All babies in NSW and the ACT are offered testing for treatable disorders. Newborn screening samples of blood, dried on filter paper, are collected from all babies in New South Wales and the Australian Capital Territory, and tested for a number of metabolic disorders for which early treatment will prevent mental retardation and other serious medical problems.

About 90 babies each year are diagnosed with a treatable condition. In many of these, failure to diagnose the condition in the newborn period would lead to irreversible problems, such as mental retardation or, more rarely, death.

Screening cards are stored until the child reaches 18 years of age. The dried blood samples are stored after the testing is completed, until the child reaches 18 years, at which time the cards are destroyed. The storage is explained in the newborn screening pamphlet handed to parents, "Tests to protect your baby"

Reasons for storage:

  • For laboratory audit: if a baby is later found to have a disorder that was missed by the newborn screening test, the laboratory needs to know what went wrong, so as to be able to rectify the problem.
  • To develop new tests: the screening programme must be able to develop new tests for treatable conditions. If there is a disorder normally recognised during childhood, when damage has already occurred, it is necessary to know what the newborn blood sample showed, to see if the disorders could have been diagnosed by a newborn test. This is the major reason why blood samples are stored in identifiable form.
  • For family use: some families are able to make use of stored samples. If a child died from an unknown disorder, sometimes a likely diagnosis emerges later. The stored sample may be able to be used to confirm the diagnosis. This helps families come to terms with what has happened, and may be useful for prenatal diagnosis.

Sample storage

Samples are stored securely in a locked area. Only authorised staff from the screening programme can access them. The data stored is also secured, by multiple password systems. The stored data consists of very basic demographic data - name, date of birth, hospital of birth, birth weight, baby's doctor, plus the results of tests

DNA data

There is no stored data about DNA. About 1% of the samples has a test for a common change in the DNA (a mutation) associated with two of the disorders, as part of the routine testing. No DNA tests are done on the vast majority of samples, and absolutely no other DNA records are held.

Additional testing

No tests other than routine newborn screening tests are carried out on any identified sample without the written permission of the parents or guardian, or the subject, if old enough.

Police access to samples

There is a memorandum of understanding between NSW Police and NSW Health that limits police access to samples sought by police to identify remains.

The police have only very occasionally requested access to samples, for identification of a deceased person, and in each case, with written permission from parents.

In general it is only thought useful to access samples for forensic purposes if the subject is dead, or believed dead, and when the newborn screening card is the only available sample to help in identification.

Privacy and Personal Information

The newborn screening programme complies with the Privacy and Personal Information Act of 1998. These issues have been discussed with the Privacy Commissioner.

It is considered that the present policy of storing samples is of benefit to the children of New South Wales and the Australian Capital Territory rather than a risk.

Clinical information

See information that outlines the clinical features, laboratory tests, screening considerations, and treatment options for a range of disorders the Newborn Screening tests for on our clincial hub page. 

Video resources

Last updated Monday 18th December 2023

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