Abstract
Prenatal genomic sequencing, which can provide a significantly increased diagnostic rate for fetal structural anomaly (FSA) compared with karyotype and microarray, is not available uniformly across Australia. PreGen, a 5-year translational research program, has identified significant barriers to implementation including access to funding, the availability of genomic testing, access to termination of pregnancy services and the availability of specialist genomic centres. A federal item number for prenatal genomic testing would increase equitable test availability and reduce delays to diagnoses by making them in pregnancy whilst removing the need for low-yield diagnostic interventions and enabling personalised patient management and family support.
| Original language | English |
|---|---|
| Pages (from-to) | 543-547 |
| Number of pages | 5 |
| Journal | Australian and New Zealand Journal of Obstetrics and Gynaecology |
| Volume | 65 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Aug 2025 |
Bibliographical note
Publisher Copyright:© 2025 The Author(s). Australian and New Zealand Journal of Obstetrics and Gynaecology published by John Wiley & Sons Australia, Ltd on behalf of Royal Australian and New Zealand College of Obstetricians and Gynaecologists.
Keywords
- fetus
- genetic counselling
- genetic testing
- pregnancy
- prenatal diagnosis
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