Newborn bloodspot screening
Newborn bloodspot screening (NBS) identifies babies at risk of having rare, but serious medical conditions. These conditions can affect normal development if not treated early. The screening test is quick and safe and available for all newborns. It takes place 48-72 hours after birth.
NBS is a blood test. It looks for a range of different biological markers in the blood. These markers can mean a medical condition may be present.
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.
Disorder/Incidence | Caused by | Problems if untreated | Treatment/Management |
|---|---|---|---|
Congenital hypothyroidism 1:2,200 | Thyroid gland unable to produce thyroid hormones (T3 & T4) | Growth failure, intellectual impairment | Thyroid hormone supplements |
Cystic fibrosis 1:3,300 | Abnormal secretions in the body, particular in the lungs and pancreas | Impaired digestive and respiratory function, infections and a decreased lifespan | Dietary supplements, physiotherapy |
Amino acid disorders e.g phenylketonuria (PKU) 1:12,000 | Defective enzymes that break dow protein | Defective enzymes that turn fat into energy | Dietary modifications, vitamin supplements |
Fatty acid oxidation disorders 1:12,000 | Defective enzymes that turn fat into energy | Muscle problems, poor feeding, vomiting, seizures, sudden death | Avoid prolonged fasting, dietary modifications |
Congenital adrenal hyperplasia (CAH) 1:15,000 | Defective enzyme that help balance sugar and salt | Increased male sex hormones, loss of water and salt in the urine, risk of sudden death | Adrenal hormone supplements |
See the full list of conditions being screened for.
This is an important test because:
- Affected babies may not show any signs or symptoms of illness at birth.
- It means conditions can be identified early.
- There are no alternative ways to identify babies with these conditions. By the time symptoms appear, their development may already be affected.
There are more than 80,000 babies born in Victoria each year. About 80 will be found to have one of these serious conditions.
When is screening done?
Newborn bloodspot screening is organised by the hospital you give birth in or at home. A midwife will collect a small sample of blood 48-72 hrs after birth. You will be asked to give your consent before a sample is collected.
The blood will be collected onto a screening card by pricking your baby's heel. This may cause a small amount of discomfort but holding and/or breastfeeding your baby can help.
How will I get the results?
In over 99% of cases, the results are normal.
In these cases, parents are not usually contacted. Parents will only be contacted if further testing is required, or another blood sample is needed.
You will be contacted if your baby needs further testing.
What happens after screening?
After screening, some blood remains on your baby's screening card. We are required to keep these cards in the laboratory for 2 years. This is for quality control and further testing if required.
After this time, they are stored indefinitely, in line with state legislation. Parents (or the individual once 18 years of age) can apply to us to have the card returned.
Who can I talk to about screening?
Your midwife or doctor will be able to give you more information about newborn screening. Alternatively, our genetic counsellors can also answer your questions.
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.
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.
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.
Example 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.
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.
Separated parents 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.