Mark Pertile

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

Nicola Jane Flowers, Trent Burgess, Olivia Giouzeppos, Grace Shi, Clare Jane Love, Clare Elizabeth Hunt, Katrina Louise Scarff, Alison Dalton Archibald, Mark Domenic Pertile

Journal article  |  2020  |  Genetics in Medicine

State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study

A Lindquist, L Hui, A Poulton, E Kluckow, B Hutchinson, MD Pertile, L Bonacquisto, L Gugasyan, A Kulkarni, J Harraway, A Howden, R Mccoy, F Da Silva Costa, M Menezes, R Palma-Dias, D Nisbet, N Martin, M Bethune, Z Poulakis, J Halliday

Journal article  |  2020  |  Ultrasound in Obstetrics & Gynecology

OBJECTIVES: Women's choices of prenatal screening and diagnostic pathways have increased in complexity since the introduction of c..

Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance.

Sarah R Greytak, Kelly B Engel, Sonya Parpart-Li, Muhammed Murtaza, Abel J Bronkhorst, Mark D Pertile, Helen M Moore

Journal article  |  2020  |  Clinical Cancer Research

Circulating cell-free DNA (cfDNA) is rapidly transitioning from discovery research to an important tool in clinical decision makin..

The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

Erik A Sistermans, Diane Van Opstal, Mireille N Bekker, Mark D Pertile

Journal article  |  2020  |  Genetics in Medicine

Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016

Eliza Kluckow, Jane Halliday, Alice Poulton, Anthea Lindquist, Briohny Hutchinson, Michael Bethune, Leonard Bonacquisto, Fabricio Da Silva Costa, Lucy Gugasyan, James Harraway, Amanda Howden, Abhijit Kulkarni, Nicole Martin, Richard McCoy, Melody Menezes, Debbie Nisbet, Ricardo Palma-Dias, Mark D Pertile, Zeffie Poulakis, Lisa Hui

Journal article  |  2019  |  Prenatal Diagnosis

OBJECTIVES: To explore the association between timing of diagnosis of common autosomal trisomies, maternal age, and socio-economic..

Cancer diagnoses following abnormal cell-free DNA detected via non-invasive prenatal testing: A case series, literature review, and proposed management model

Eryn Dow, Alison Freimund, Kortnye Smith, Rodney J Hicks, Peter Jurcevic, Mark Shackleton, Paul James, Andrew Fellowes, Mark Pertile, George McGillivray, Linda Mileshkin

Conference Proceedings  |  2019  |  ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY

Population-Based Prevalence of 22q11 Deletion Syndrome and Other Chromosome Abnormalities in a Combined Prenatal and Postnatal Cohort

L Hui, A Poulton, E Kluckow, A Lindquist, B Hutchinson, M Pertile, L Bonacquisto, L Gugasyan, A Kulkarni, J Harraway, A Howden, R Mccoy, F Da Silva Costa, M Menezes, R Palma-Dias, D Nisbet, N Martin, M Bethune, Z Poulakis, J Halliday

Conference Proceedings  |  2019  |  AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY

Abstracts of the 29th World Congress on Ultrasound in Obstetrics and Gynecology, 12-16 October 2019, Berlin, Germany.

L Hui, A Lindquist, A Poulton, E Kluckow, B Hutchinson, L Bonacquisto, MD Pertile, L Gugasyan, A Kulkarni, J Harraway, A Howden, R McCoy, F da Silva Costa, R Palma-Dias, D Nisbet, N Martin, M Behune, Z Poulakis, J Halliday

Conference Proceedings  |  2019  |  Ultrasound in Obstetrics & Gynecology

'Small cost to pay for peace of mind': Women's experiences with non-invasive prenatal testing

Hilary Bowman-Smart, Julian Savulescu, Cara Mand, Christopher Gyngell, Mark D Pertile, Sharon Lewis, Martin B Delatycki

Journal article  |  2019  |  Australian and New Zealand Journal of Obstetrics and Gynaecology

BACKGROUND: Non-invasive prenatal testing (NIPT) has been available in Australia on a user-pays basis since 2012. Since its introd..

'Is it better not to know certain things?': views of women who have undergone non-invasive prenatal testing on its possible future applications

Hilary Bowman-Smart, Julian Savulescu, Cara Mand, Christopher Gyngell, Mark D Pertile, Sharon Lewis, Martin B Delatycki

Journal article  |  2019  |  Journal of Medical Ethics