What is a newborn baby blood test?

A newborn baby blood test, also known as a 'heel prick test' or 'blood spot test', is available to all newborns shortly after their birth. It is a simple test that is done by taking a few drops of blood from the newborn baby's heel.

The blood sample is then analysed in the laboratory for signs of a number of rare but serious genetic conditions. If these conditions are recognised at this early stage, they can be treated and/or managed and the harm they cause can be minimised.

Genetic

Related to genes, the body's units of inheritance or origin.

The test

A nurse or midwife will perform the test within the first 72 hours after birth - normally before you leave the hospital with your new baby, or before the midwife leaves your home after a home birth.

The test takes a few seconds. The nurse will clean the heel of your baby, prick it using a special device and collect a few drops of blood onto a special card. The prick site is then covered and the test is over. The card is sent to the laboratory for analysis.

Your baby will probably be distressed by the pricking, but will calm down quickly. Holding your baby, making skin-to-skin contact or breastfeeding will help your baby (and you) calm down faster.

As a parent, you may ask to decline the test if you choose.

The newborn blood test is performed by taking a blood sample from the newborn's heel.The newborn baby blood test is carried out on the heel of a newborn baby. 

Main conditions

Newborn baby blood tests were first introduced in the 1960s for phenylketonuria (PKU), a rare metabolic disorder. Since then, the list of conditions tested for has expanded considerably and can now include dozens of conditions, with new ones added from time to time.

The specific list of conditions varies by nation (and often by state). The main conditions tested for include:

After the test

Results

In most countries, you will not be contacted if the test results indicate that all is well. In some cases, you will be contacted and asked to give another blood sample for further testing. It is important to understand that further testing does not mean there is anything wrong with your baby. In many cases, the repeat test is only required to clear up any doubt about the test results, if the sample was contaminated, or to help the lab improve its procedures.

In the rare case that your baby is found to have one of the conditions tested for, you will be notified immediately. You will then be referred to a specialist who will explain the implications of the condition for your baby and your family.

Storage

All samples and test results are stored securely for a period of time that varies by country. In some countries, the samples are destroyed after a few months or years; in others they are stored indefinitely.

Research

Newborn baby blood test samples are also often used for research purposes. The samples are 'de-identified', meaning that the sample cannot be linked back to your baby and any research performed on the sample will not affect your baby in any way. Research is focused on analysis methods and does not involve ethically controversial fields, such as cloning or stem-cell research.

You may, if you wish, ask for your baby's test sample not to be used for research purposes.