Newborn Bloodspot Screening
What is Newborn Bloodspot Screening (NBS)?
Newborn bloodspot screening identifies babies at risk of having rare, serious medical conditions that can affect their development and it is strongly recommended for all babies.
NBS is important because:
- Affected babies may not show any signs of being sick and there may be no family history
- If a rare condition is identified, early treatment and management can be started, improving outcomes for your baby
- There is no other way to identify babies with these conditions. By the time your baby appears sick, their development may already be impaired. In some cases, the condition may be life threatening if treatment is delayed.
When and how is NBS done?
The test should be taken when your baby is 48 to 72 hours old. It is a quick and safe heel prick that takes only a few small drops of your baby’s blood onto a screening card. It can cause some discomfort for your baby, so we recommend feeding and/or swaddling your baby during the test, to make them feel as comfortable as possible.
Your doctor or midwife will discuss the advantages of having the test done and seek your consent prior to performing the test. If you choose not to have it done, you will still be asked to sign the card to show you understand the risks of not having the test.
If you are discharged before 48hours, your midwife will tell you how to get your NBS done.
What does NBS test for?
The test looks for more than 25 different conditions. The table gives you some information about the most common conditions:
| Disorder | Caused by | Problems if untreated | Treatment/ Management |
| Phenylketonuria (PKU) | Defective enzymes that break down protein | Developmental delay, intellectual impairment, seizures | Dietary modifications, vitamin supplements |
| Congenital Hypothyroidism | Thyroid gland unable to produce thyroid hormone (T3 & T4) | Growth failure, intellectual impairment | Thyroid hormone supplements |
| Cystic Fibrosis | Abnormal secretions in the body; in particular lungs & pancreas | Impaired digestive & respiratory function, infections & decreased life span | Dietary supplements, physiotherapy |
| Galactosaemia | Build up of galactose | Liver failure, intellectual disability, seizures | Special milk diet |
| Congenital Adrenal Hyperplasia (CAH) | Defects in enzymes necessary for cortisol production | Early puberty, infertility & failure to thrive | Lifelong steroid therapy |
What happens after screening?
You will be contacted by your doctor ONLY if the screen result shows an abnormality. An abnormal result does not always mean your baby has a condition. It means that your baby has an increased risk of having the condition and further testing is required. If you have not heard from your doctor after one month your baby’s test was normal.
Newborn Bloodspot Screening
Newborn Bloodspot Screening is a quick, safe, heel prick test for new babies that can identify rare but serious medical conditions early. Watch the video or download a brochure about the test.
Contact us
The Royal Brisbane & Women’s Hospital
Location: Maternity Ward
Phone: 3646 7455