Newborn baby blood test

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:

• Phenylketonuria;
• Hypothyroidism, and;
• Cystic fibrosis.

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.