The pregen research program: implementing prenatal genomic testing in Australia—a commentary

Sarah Long; Deborah Schofield; Josh Kraindler; Rebecca Vink; Kate Ross; Natalie Hart; Holly  Evans; Alyssa Wilson; Jon Hyett; Claire E. Wakefield; Lauren Kelada; Hamish S. Scott; Sebastian Lunke; Meaghan Wall; Michael F. Buckley; Gemma Fernihough; George McGillivray; Tony Roscioli

doi:10.1111/ajo.13936

The pregen research program: implementing prenatal genomic testing in Australia—a commentary

Sarah Long, Deborah Schofield, Josh Kraindler, Rebecca Vink, Kate Ross, Natalie Hart, Holly Evans, Alyssa Wilson, Jon Hyett, Claire E. Wakefield, Lauren Kelada, Hamish S. Scott, Sebastian Lunke, Meaghan Wall, Michael F. Buckley, Gemma Fernihough, George McGillivray, Tony Roscioli

Macquarie Business School

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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
Early online date	24 Mar 2025
DOIs	https://doi.org/10.1111/ajo.13936
Publication status	Published - Aug 2025

Bibliographical note

© 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 Collegeof Obstetricians and Gynaecologists. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

Keywords

fetus
genetic counselling
genetic testing
pregnancy
prenatal diagnosis

Access to Document

10.1111/ajo.13936Licence: CC BY-NC-ND

Publisher version (open access)Final published version, 150 KBLicence: CC BY-NC-ND

Cite this

Long, S., Schofield, D., Kraindler, J., Vink, R., Ross, K., Hart, N., Evans, H., Wilson, A., Hyett, J., Wakefield, C. E., Kelada, L., Scott, H. S., Lunke, S., Wall, M., Buckley, M. F., Fernihough, G., McGillivray, G., & Roscioli, T. (2025). The pregen research program: implementing prenatal genomic testing in Australia—a commentary. Australian and New Zealand Journal of Obstetrics and Gynaecology, 65(4), 543-547. https://doi.org/10.1111/ajo.13936

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title = "The pregen research program: implementing prenatal genomic testing in Australia—a commentary",

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.",

keywords = "fetus, genetic counselling, genetic testing, pregnancy, prenatal diagnosis",

author = "Sarah Long and Deborah Schofield and Josh Kraindler and Rebecca Vink and Kate Ross and Natalie Hart and Holly Evans and Alyssa Wilson and Jon Hyett and Wakefield, \{Claire E.\} and Lauren Kelada and Scott, \{Hamish S.\} and Sebastian Lunke and Meaghan Wall and Buckley, \{Michael F.\} and Gemma Fernihough and George McGillivray and Tony Roscioli",

note = "{\textcopyright} 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 Collegeof Obstetricians and Gynaecologists. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.",

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Long, S, Schofield, D, Kraindler, J, Vink, R, Ross, K, Hart, N, Evans, H, Wilson, A, Hyett, J, Wakefield, CE, Kelada, L, Scott, HS, Lunke, S, Wall, M, Buckley, MF, Fernihough, G, McGillivray, G & Roscioli, T 2025, 'The pregen research program: implementing prenatal genomic testing in Australia—a commentary', Australian and New Zealand Journal of Obstetrics and Gynaecology, vol. 65, no. 4, pp. 543-547. https://doi.org/10.1111/ajo.13936

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The pregen research program: implementing prenatal genomic testing in Australia—a commentary

Abstract

Bibliographical note

Keywords

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