1793 – Diagnostic genomic testing for fetal anomalies

New Medicare Benefits Schedule item.

Fetal anomalies identified during pregnancy are often due to a variant of a single gene. Testing the genes using whole exome sequencing or whole genome sequencing can help diagnose the cause of fetal anomalies.

Type: Investigative technology

Fetal anomalies refer to structural abnormalities detected in a fetus during pregnancy. Severe abnormalities may result in fetal or neonatal death, or neonatal or childhood disease with severe morbidity or increased mortality. 

The following consultation deadlines apply:

• Pre-PASC consultation deadline: 14 March 2025
• Pre-MSAC consultation deadline: -

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This application will be considered at the following meetings:

• PASC meeting: 16 to 17 April 2025
• ESC meeting: -
• MSAC meeting: -

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The outcome of this application is pending.

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