Newborn Screening program expanded

27 November 2023

Newborn Screening program expanded

This month, SA Pathology added spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) to its Newborn Screening (NBS) program; it’s anticipated SMA will be detected in approximately two babies every year, and one baby every two to three years for SCID.

SA Pathology has purchased new multiplex neonatal screening equipment that uses state-of-the-art DNA gene testing technology to identify babies who have either of these two conditions and has trained highly specialised scientific staff with molecular genetic expertise to interpret the results.

SA Pathology’s Dr Carol Sui, genetic pathologist at Women’s and Children’s Hospital says she is thrilled to provide additional testing for these conditions, which she says are both life-threatening but effective treatments are available.

“Early detection is the key for better outcomes and the aim is to start treatments within the first 14 days, so newborn screening plays a vital role in the lives of these children.”

SMA affects the nerve cells controlling muscle movement, which causes muscle weakness and wasting. Babies with SMA have difficulty crawling, sitting, and walking, and their ability to breathe and swallow is also impacted. In its most severe form, an affected baby does not usually survive beyond their second birthday without medical intervention.

Babies with SMA have the best outcome when the disease is diagnosed within the first 14 days of life, with treatment occurring rapidly after detection.

SCID is caused by defects in cells of the immune system with babies appearing healthy at birth but are soon impacted by recurrent, severe and unusual infections. SCID is invariably fatal without early intervention such as a haematopoietic stem cell transplant.

The additional testing was incorporated into South Australia’s existing Newborn Screening program which now tests for over 30 different treatable conditions within 48-72 hours of a baby being born across SA, the lower part of Northern Territory and Tasmania.

South Australia’s NBS program is expected to identify one baby in every 700 newborns who will then be transferred to specialist clinical care.

Read more about the program.

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