Mark D. Pertile

Flemington Road
Parkville, VIC 3052, Australia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 48 publications

Resolution of Refractory Chylous Effusions With Targeted MEK Inhibition in NRAS Q61R-Driven Kaposiform Lymphangiomatosis: A Case Report.

Resolution of Refractory Chylous Effusions With Targeted MEK Inhibition in NRAS Q61R-Driven Kaposiform Lymphangiomatosis: A Case Report.

Journal: Case reports in pediatrics

Published: March 23, 2026

Sex Ratios at Birth Following Non-Invasive Prenatal Testing in Victoria, Australia.

Sex Ratios at Birth Following Non-Invasive Prenatal Testing in Victoria, Australia.

Journal: Prenatal diagnosis

Published: September 15, 2025

Assessment of Placental Chromosomal Mosaicism during Prenatal Cell-Free DNA Screening Refines Positive Predictive Values for Fetal Trisomy.

Assessment of Placental Chromosomal Mosaicism during Prenatal Cell-Free DNA Screening Refines Positive Predictive Values for Fetal Trisomy.

Journal: Clinical chemistry

Published: December 16, 2024

'I Could Trust It': Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell-Free DNA Screening for Unbalanced Translocations.

'I Could Trust It': Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell-Free DNA Screening for Unbalanced Translocations.

Journal: Prenatal diagnosis

Published: August 30, 2024

Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals.

Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals.

Journal: BMC pregnancy and childbirth

Published: November 09, 2023

Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies.

Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies.

Journal: Prenatal diagnosis

Published: April 20, 2023

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.

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.

Journal: Prenatal diagnosis

Published: September 02, 2022

"It becomes your whole life"-Exploring experiences of reciprocal translocation carriers and their partners.

"It becomes your whole life"-Exploring experiences of reciprocal translocation carriers and their partners.

Journal: Journal of genetic counseling

Published: June 24, 2022

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

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

Journal: Prenatal diagnosis

Published: March 14, 2022

Cancer Diagnoses Following Abnormal Noninvasive Prenatal Testing: A Case Series, Literature Review, and Proposed Management Model.

Cancer Diagnoses Following Abnormal Noninvasive Prenatal Testing: A Case Series, Literature Review, and Proposed Management Model.

Journal: JCO precision oncology

Published: January 07, 2022

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

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

Journal: Clinical chemistry

Published: December 15, 2020

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.

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.

Journal: American journal of obstetrics and gynecology

Published: November 29, 2020

Showing 1-12 of 48

Last Updated: 09/26/2026