Mark Pertile

Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening

Katrina LL Scarff, Nicola Flowers, Clare JJ Love, Alison DD Archibald, Clare EE Hunt, Olivia Giouzeppos, Justine Elliott, Martin BB Delatycki, Mark DD Pertile

Journal article  |  2023  |  PRENATAL DIAGNOSIS

OBJECTIVES: To evaluate the performance of cell-free DNA (cfDNA) screening for common fetal aneuploidies, choice of prenatal proce..

Ethical issues associated with prenatal screening using non-invasive prenatal testing for sex chromosome aneuploidy

Molly Johnston, Chanelle Warton, Mark D Pertile, Michelle Taylor-Sands, Martin B Delatycki, Lisa Hui, Julian Savulescu, Catherine Mills

Journal article  |  2022  |  PRENATAL DIAGNOSIS

Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available through expanded non-invasive prenatal testing..

Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study

Lisa Hui, Cecilia Pynaker, Leonard Bonacquisto, Anthea Lindquist, Alice Poulton, Eliza Kluckow, Briohny Hutchinson, Fiona Norris, Mark D Pertile, 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, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

BACKGROUND: The American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine recently recommend..

Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies

Mark D Pertile, Nicola Flowers, Darcy Vavrek, Daniel Andrews, Tasha Kalista, Andrew Craig, Cosmin Deciu, Sven Duenwald, Kristen Meier, Sucheta Bhatt

Journal article  |  2021  |  CLINICAL CHEMISTRY

BACKGROUND: Noninvasive prenatal tests (NIPTs) detect fetal chromosomal anomalies with high clinical sensitivity and specificity. ..

Cancer Diagnoses Following Abnormal Noninvasive 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 A James, Andrew Fellowes, Martin B Delatycki, Susan Fawcett, Nicola Flowers, Mark D Pertile, George McGillivray, Linda Mileshkin

Journal article  |  2021  |  JCO PRECISION ONCOLOGY

Noninvasive prenatal testing (NIPT) is a screening test for fetal chromosomal aneuploidy using cell-free DNA derived from maternal..

Population-based Analysis of Atypical Chromosomal Abnormalities According to Nuchal Translucency Measurement: An Individual Record-Linkage Study of 81,244 Women.

L Hui, C Pynaker, L Bonacquisto, A Lindquist, A Poulton, E Kluckow, B Hutchinson, F Norris, M Pertile, 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, et al.

Conference Proceedings  |  2021  |  AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY

State-Wide Utilization and Performance of Traditional and Cell-Free DNA-Based Prenatal Testing Pathways: The Victorian Perinatal Record Linkage (PeRL) Study

Mary E Norton

Journal article  |  2021  |  OBSTETRICAL & GYNECOLOGICAL SURVEY

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  |  PRENATAL DIAGNOSIS

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..