Newborn metabolic screening resources

This resource explains how newborn metabolic screening works, and what disorders are screened for.

• Your newborn baby's blood test (PDF, 1.58 MB)

The information in this document will help you understand more about autosomal recessive inheritance and answer some of your questions.

• Autosomal Recessive Inheritance information sheet (PDF, 190 KB)

Return of screening samples - Guthrie card or blood spot card - to family

• Return of newborn metabolic screening samples to family request form (DOC, 97 KB)
• Return of newborn metabolic screening samples to family request form (PDF, 149 KB)

Return of screening samples - Guthrie card or blood spot card - for someone who has died

• Request for the return of newborn metabolic screening sample for a person who has died (DOC, 96 KB)
• Request for the return of newborn metabolic screening sample for a person who has died (PDF, 390 KB)

This resource is designed as a support for health practitioners to help pregnant people make informed decisions about screening for themselves and their babies. While it can be used for all pregnant people, it has been designed to enhance discussions about screening where there are communication difficulties. This may include pregnant people who are deaf, have low literacy levels, have learning disabilities, are migrants/former refugees.

About Screening - Discussion Aid for Health Practitioners (pdf, 2.4 MB)

You have just learned that your baby has had a borderline, slightly abnormal newborn screen for congenital adrenal hyperplasia. This information will answer some of your questions.

• Borderline positive congenital adrenal hyperplasia (PDF, 352 KB)

This information will answer some of your questions about a borderline positive, slightly abnormal newborn screen for congenital hypothyroidism.

• Borderline positive congenital hypothyroidism (PDF, 161 KB)

The information in this resource will help you understand more about congenital hypothyroidism and answer some of your questions.

• Congenital hypothyroidism and your baby (PDF, 954 KB)

The information in this resource will help you understand more about cystic fibrosis and answer some of your questions.

• Cystic fibrosis and your baby (PDF, 958 KB)

You have just learned that your baby has had a borderline, slightly abnormal newborn screen. This information will answer some of your questions.

• Borderline positive metabolic disorder (pdf, 175 KB)

The information in this resource will help you understand more about Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency.

• MCAD deficiency and your baby (PDF, 822 KB)

You have just learned that your baby needs more testing to find out whether they have a low number of a type of immune cell called T cells.

The information in this leaflet will help you understand why this testing is necessary.

• Why does my baby need more testing for severe combined immune deficiency? (PDF, 175 KB)

This brochure will give you more information about what happens next.

• My baby has T cells (PDF, 145 KB)

If your baby’s blood test shows that your baby has a low number of a type of immune cell called T cells, they will need to see a doctor.
The information in this leaflet will help you understand what is happening.

• My baby has low T cells (PDF, 166 KB)

The information in this resource will help you understand more about Spinal muscular atrophy and answer some of your questions.

Spinal Muscular Atrophy (PDF 234KB)