Genome-wide Testing for Pregnancies with Major Fetal Structural Abnormalities

Genome-wide Testing for Pregnancies with Major Fetal Structural Abnormalities

HealthConsult was engaged by the Department of Health to undertake a contracted assessment (CA) for the Medical Services Advisory Committee (MSAC) on ‘genome-wide microarray testing for pregnancies with major fetal structural abnormalities detected by ultrasound’. The project involved examining the evidence to the support listing of whole genome-wide microarray in lieu of conventional karyotyping on the Medicare Benefits Schedule (MBS).

The project began with the development of a PICO confirmation that specified the included Population, Intervention, Comparator and Outcomes for the project. This deliverable was presented and accepted by the PICO Advisory Sub-committee (PASC). The project included the design and conduct of a systematic literature review and a review of clinical guidelines. In addition, the cost-effectiveness of the service and the expected utilisation and financial implications for the MBS were also assessed. The contracted assessment was considered by the Medical Services Advisory Committee (MSAC) when it formulated its advice to the Minister for Health on whether the service should be publicly funded.