Nicola Flowers

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..

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..

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

Genome-wide cell-free DNA based non-invasive prenatal testing identifies trisomy 14 mosaicism in association with uniparental disomy

Dean G Phelan, Nicola Flowers, Olivia Giouzeppos, Paula Lall, Ellen Casey, Leonie Houben, Mara McCleery, Mark D Pertile

Journal article  |  2020  |  Pathology