Mark Pertile

International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies.

Glenn E Palomaki, Rossa WK Chiu, Mark D Pertile, Erik A Sistermans, Yuval Yaron, Joris Robert Vermeesch, Neeta L Vora, Robert G Best, Louise Wilkins-Haug

Journal article  |  2020  |  Prenat Diagn

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

PURPOSE: Balanced reciprocal translocation carriers are at increased risk of producing gametes with unbalanced forms of the transl..

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: To perform individual record linkage of women undergoing screening with cell-free DNA (cfDNA), combined first-trimeste..

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  |  Clin Cancer Res

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

A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort

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

Journal article  |  2020  |  HUMAN REPRODUCTION

STUDY QUESTION: What is the frequency of major chromosome abnormalities in a population-based diagnostic data set of genomic tests..

Presymptomatic detection of metastatic breast cancer using Non-Invasive Prenatal Testing (NIPT)

Nicola Flowers, Olivia Giouzeppos, Grace Shi, Clare Love, Alison Archibald, George McGillivray, Eryn Dow, John Christodoulou, Meg Wall, Sebastian Lunke, Damien Bruno, Mark D Pertile

Conference Proceedings  |  2020  |  Pathology

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