Newborn bloodspot screening (NBS or heel prick test) can identify the small number of babies that have rare, but serious medical conditions. These conditions can’t be seen just by looking at the baby. Early diagnosis and treatment can save lives.
This test is funded by the Victorian Department of Health and delivered by VCGS. Testing is available to all newborn babies. There are approximately 80,000 babies born in Victoria each year. About 1 in 1000 will be found to have one of these serious conditions.
This short video below takes you on a tour of the VCGS newborn bloodspot screening laboratory located at The Royal Children's Hospital, Melbourne.
NBS is a simple blood test. It looks for a range of different biological markers in the blood. These markers can indicate certain medical conditions. If a baby has one of these conditions, they will have an abnormal level of the marker in their blood. If not identified and treated early, these conditions can affect typical development.
In Victoria, babies are screened for twenty-six different conditions. The most common are listed in the table below.
|Disorder / Incidence||Caused by||Problems if Untreated||Treatment / Management|
|Congenital hypothyroidism 1:2200||Thyroid gland unable to produce thyroid hormones (T3 & T4)||Growth failure, intellectual impairment||Thyroid hormone supplements|
|Cystic fibrosis 1:3300||Abnormal secretions in the body; in particular the lungs and pancreas||Impaired digestive and respiratory function, infections and decreased life span||Dietary supplements, physiotherapy|
|Amino acid disorders e.g. phenylketonuria (PKU) 1:12000||Defective enzymes that break down protein||Developmental delay, intellectual impairment, seizures||Dietary modifications, vitamin supplements|
|Fatty acid oxidation disorders 1:12000||Defective enzymes that turn fat into energy||Muscle problems, poor feeding, vomiting, seizures, sudden death||Avoid prolonged fasting, dietary modifications|
|Congenital adrenal hyperplasia (CAH) 1:15000||Defective enzyme that helps balance sugar and salt||Increased male sex hormones, loss of water and salt in the urine, adrenal crisis, risk of sudden death||Adrenal hormone supplements|
A PDF list of all conditions can be found below.
Newborn bloodspot screening is organised within the hospital (or at home) by a midwife, 48-72 hrs after birth. Parents will be asked to give written consent prior to testing. A nurse or midwife will collect a few drops of blood onto a screening card (sometimes called a Guthrie card) by pricking the baby’s heel. Screening is voluntary, but highly recommended.
The screening card is sent to the screening laboratory here at The Royal Children’s Hospital for testing. Parents will only be contacted if further testing is required, or another blood sample is needed.
- NBS Electronic Recollection Letter Guidelines
- Newborn Bloodspot Screening Brochure A4
- Newborn Bloodspot Screening - Arabic
- Newborn Bloodspot Screening - Burmese
- Newborn Bloodspot Screening - Chinese Simplified
- Newborn Screening - Chinese Traditional
- Newborn Bloodspot Screening - Dari
- Newborn Bloodspot Screening - Hindi
- Newborn Bloodspot Screening - Farsi
- Newborn Bloodspot Screening - Karen
- Newborn Bloodspot Screening - Khmer
- Newborn Bloodspot Screening - Somali
- Newborn Bloodspot Screening - Turkish
- Newborn Bloodspot Screening - Vietnamese
- Newborn Bloodspot Screening - Malay
- Newborn Bloodspot Screening List of Conditions
We have no family history and my baby seems healthy. Why do we need screening?
The conditions screened for do not show any symptoms at birth and usually there is no family history. By the time symptoms of a condition do show, development may already be impaired. Through screening, affected babies can be identified early and, in most cases, treated to prevent or minimise the health impact.
Can I refuse to have newborn bloodspot screening?
While newborn bloodspot screening is strongly recommended for all babies, participation is voluntary. The benefits of screening however, could be life-changing. Unscreened babies with a particular condition could suffer permanent disability or die suddenly. If you have any concerns about screening, speak to your midwife or doctor. If you choose not to have screening, you will be asked to sign a form acknowledging your choice.
Why do I need to complete a patient consent form?
Patient consent for newborn bloodspot screening was implemented in 2011 to ensure health professionals and parents have all the information they need to understand what newborn bloodspot screening does and the choices they have.
Parents will be asked to provide written consent for the screening test before sample collection. They will also be free to make a choice about secondary research use of the screening card.
Whilst screening is considered in the 'best interest of the child' and is recommended, participation is voluntary. You are able to choose whether you would like your baby's left over blood sample made available for ethics-approved, de-identified health research. Remember, no personal information is used in this type of research. If researchers would like to use your personal information, they need to get your explicit consent first. If you don't wish to make the sample available for research, let your midwife know and the screening card will be marked accordingly. You can still access your baby's card for further clinical testing in the future, if needed.
Under the Public Records Act 1973 parents can apply for the transfer of their baby's card after the two year period of laboratory storage. When your child reaches the age of 18 they are also able to apply for the transfer of their card.
Is newborn bloodspot screening safe?
Screening is very safe. It is also quick and effective at picking up babies with rare, but serious medical conditions. Having the heel prick may cause brief discomfort to your newborn, however holding or feeding your baby during the sample collection may help. Unfortunately, there are no alternatives to screening. By the time affected babies show any signs or symptoms, their development may already be impaired.
What does a positive screening result mean?
A positive screening result does not necessarily mean your baby has a particular condition. Further testing is needed to confirm the result. Babies with a positive screening result are referred to a specialist for further testing.
How do I get the results from newborn bloodspot screening?
Almost all babies will have a normal screening result. When this happens parents will not be contacted. The hospital however, will receive a copy of all screening results.
Parents will be contacted if:
- a repeat sample is needed (if the first result was unclear).
- a positive screening result is obtained.
My baby needs to be re-screened. What does this mean?
Sometimes a repeat sample may need to be collected. This is usually not a cause for concern because most repeat samples are found to be within the normal range. A repeat may be requested for a number of reasons, including:
- an unclear screening result.
- sample contamination.
- your baby is premature.
- collection of sample too early.
Why is the sample sent to Melbourne?
VCGS performs the newborn bloodspot screening test for Victoria and the laboratory is located at The Royal Children's Hospital in Melbourne. All samples are sent here because this is the only laboratory in Victoria with the necessary equipment and expertise to perform this test.
What happens to the newborn bloodspot screening card after testing?
After testing, some blood remains on your baby's screening card. Similar to other health records and pathology samples, there are certain requirements that apply to the newborn bloodspot screening cards after screening has occurred.
After screening, the cards are stored in the laboratory for 2 years, for quality control and further clinical testing if required. After this period, they are stored indefinitely, in line with state legislation. Parents (or the individual once 18) can apply to have the card returned to them.
Can my baby’s sample be used for research?
This is your choice. When your baby’s sample is collected, you have the option to say whether or not the sample can be used and de-identified for approved research projects. These projects are to improve testing techniques and further our understanding of genetic conditions.
Examples of clinical research:
A two year-old child presents to the hospital with deafness. The child was healthy since birth, with no major illnesses. The doctor knows babies infected with cytomegalovirus (CMV) during pregnancy or labour can develop deafness later in life.
A blood test shows the child had antibodies to CMV which indicates exposure. If the child was infected during pregnancy or labour then the deafness may have been caused by the virus. If exposure occurred more recently it is not likely to have caused deafness.
With parental consent, the doctor requests access to the newborn screening card so he can test for CMV. This newborn sample provides a unique 'snapshot' of life in utero.
The newborn bloodspot screening sample from a child who has died from a genetic disorder (such as muscular dystrophy) is used to identify the exact genetic change which caused the disease.
This enables close blood relatives of the child (such as siblings) to find out if they also carry the genetic change. It may also allow parents to undergo prenatal testing for future pregnancies. Access to the screening card for these reasons requires parental consent.
How do I get my (or my child's) screening card back?
Under the Public Records Act 1973, parents can apply to have their child's screening card returned to them. When your child reaches 18, they are also free to apply to have the card returned. Cards are kept in the laboratory for about two years for quality assurance and repeat testing, if required. Cards will not usually be transferred during this period.
Applications for transfer must be made in writing to the Newborn Bloodspot Screening Laboratory at the Royal Children's Hospital. A signed statutory declaration stating identity as biological parents (or individual, if over 18) must be submitted. Parents/individual will be asked to sign a disclaimer for the transfer of the card. Cards will be sent via registered mail or can be collected in person.
Return protocols follow the principle of the Family Law Act 1975 regarding the custodial parent.
If a request for transfer is received from the parent with whom the child permanently resides, that parent is asked to provide a statutory declaration from the separated parent consenting to the transfer.