Sarah Long, Deborah Schofield, Josh Kraindler, Rebecca Vink, Kate Ross, Natalie Hart, Holly Evans, Alyssa Wilson, Jon Hyett, Claire E Wakefield, Lauren Kelada, Hamish Scott, Sebastian Lunke, Meaghan Wall, Michael F Buckley, Gemma Fernihough, George McGillivray, Tony Roscioli
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引用次数: 0
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.
期刊介绍：
The Australian and New Zealand Journal of Obstetrics and Gynaecology (ANZJOG) is an editorially independent publication owned by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) and the RANZCOG Research foundation. ANZJOG aims to provide a medium for the publication of original contributions to clinical practice and/or research in all fields of obstetrics and gynaecology and related disciplines. Articles are peer reviewed by clinicians or researchers expert in the field of the submitted work. From time to time the journal will also publish printed abstracts from the RANZCOG Annual Scientific Meeting and meetings of relevant special interest groups, where the accepted abstracts have undergone the journals peer review acceptance process.
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