A5049620736- Prenatal Screening and Diagnostics
- Parvovirus B19 Infection Studies
- Fetal and Pediatric Neurological Disorders
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Congenital Anomalies and Fetal Surgery
- Congenital Heart Disease Studies
- Endometriosis Research and Treatment
- Endometrial and Cervical Cancer Treatments
- Cancer Genomics and Diagnostics
- Uterine Myomas and Treatments
- Congenital Diaphragmatic Hernia Studies
- Advanced MRI Techniques and Applications
- Cleft Lip and Palate Research
- Epigenetics and DNA Methylation
- Disability Rights and Representation
- Medical Imaging Techniques and Applications
- Tracheal and airway disorders
- Cardiac Imaging and Diagnostics
- Renal and related cancers
- Adolescent and Pediatric Healthcare
Royal Women's Hospital
2010-2024
The University of Melbourne
2017-2021
Monash Medical Centre
2021
Mercy Hospital for Women
2021
Royal Children's Hospital
2021
Victorian Clinical Genetics Services
2021
Universidade de São Paulo
2021
Northern Hospital
2021
Monash University
2021
Hudson Institute
2019-2020
Introduction: Biological factors are known to influence the fetal fraction (FF) of cell-free DNA and may also accuracy non-invasive prenatal testing.Material methods: NIPT from 5267 mixed risk women across three specialist clinics in Australia were analyzed. Multivariable regression analysis was used determine whether maternal characteristics, ultrasound, placental biomarkers affect FF test accuracy.Results: ranged 4% 37% (mean 11.6%). Body mass index (BMI), gestation, found be significant...
To assess the accuracy of non-invasive prenatal testing (NIPT) for sex chromosome aneuploidy (SCA) in routine clinical practice and to review counselling sonographic issues arising SCA cases.Three specialist Australian obstetric ultrasound diagnosis practices offering NIPT after 10 weeks' gestation participated this study. was reported chromosomes 21, 18, 13, X, Y.NIPT screening performed 5,267 singleton pregnancies. The odds being affected given a positive result (OAPR) lowest SCAs, most...
Background There are limited data regarding noninvasive prenatal testing ( NIPT ) in low‐risk populations, and the ideal aneuploidy screening model for a pregnant population has yet to be established. Aims To assess implementation of into clinical practice utilising both first‐ second‐line models. Materials Methods Three private practices specialising obstetric ultrasound diagnosis Australia offered as first‐line test, ideally followed by combined first‐trimester cFTS ), or test following ,...
ABSTRACT Objectives To perform individual record linkage of women undergoing screening with cell‐free DNA (cfDNA), combined first‐trimester (CFTS), second‐trimester serum (STSS), and/or prenatal and postnatal cytogenetic testing the aim to (1) obtain population‐based estimates utilization invasive diagnosis, (2) analyze performance different strategies, (3) report residual risk any major chromosomal abnormality following a low‐risk aneuploidy result. Methods This was retrospective study...
Abstract Background Despite surgical and pharmacological interventions, endometriosis can recur. Reliable information regarding risk of recurrence following a first diagnosis is scant. The aim this study was to examine clinical survey data in the setting disease identify predictors recurrence. Methods This observational reviewed from 794 patients having surgery for pelvic pain or endometriosis. Patients were stratified into two analytic groups based on self-reported surgically confirmed...
What is the frequency of major chromosome abnormalities in a population-based diagnostic data set genomic tests performed on miscarriage, fetal and infant samples state with >73 000 annual births?The overall entire cohort was 28.2% (2493/8826), significant decrease detection later developmental stage, from 50.9% to 21.3% 15.6% prenatal postnatal cohorts, respectively.Over past decade, technological advances have revolutionized testing at every stage reproduction. Chromosomal microarrays...
Nuchal translucency measurement has an established role in first trimester screening. Accurate requires that technical guidelines are followed. Performance can be monitored by auditing the distribution of measurements obtained a series cases.The primary aim is to develop accessible, theory-based educational program for individuals whose at audit falls outside acceptable range, and assess operator performance following this intervention.Operators nuchal distributions fall normal range (38-65%...
Introduction The right subclavian artery normally arises as the first vessel from brachiocephalic trunk. An aberrant (ARSA) directly aortic arch and crosses behind trachea towards arm. This variant occurs in approximately 1–2% of population; however, frequency increases individuals with chromosomal abnormalities such trisomy 21 22q11.2 microdeletion. Prenatal identification ARSA therefore has a role screening for conditions. Methods Databases were searched studies reporting prenatal...
Standardization of first-trimester nuchal translucency (NT) image acquisition is crucial to the success screening for Down syndrome. Rigorous audit operator performance and constructive feedback from assessors maintain standards. This process relies on good inter-rater agreement assessment. We describe Australian approach NT assessment evaluate impact a targeted intervention agreement.Between 2002 2008 group experienced practitioners met nine times compare their series images. Each assessor...
To perform individual record-linkage of women undergoing prenatal screening and/or and postnatal diagnosis to analyse the performance different strategies, report residual risks any major chromosome abnormality following a low risk result. Retrospective study resident in Victoria, Australia, or 2015. Patient-funded cell-free(cf) DNA referrals from multiple providers were merged with state-wide results for combined first trimester (CFTS), second serum (STSS) invasive diagnostic procedures....
In some countries, measurement of nuchal translucency (NT) is incorporated into national antenatal screening programmes to help detect pregnancies at increased risk Down syndrome. Accurate the NT requires a specific technique. This article an illustrated practical guide outlining steps required for measuring NT; it provides useful tips improving operator technique and advises how avoid common pitfalls. Although fetal nasal bone assessment does not currently form part official syndrome (in...
Abstract Objectives To explore the association between timing of diagnosis common autosomal trisomies, maternal age, and socio‐economic status (SES). Design Retrospective study cytogenetic diagnoses trisomy 21 (T21), 18 (T18), 13 (T13) in Victoria, Australia, 2015 to 2016, stratified by (prenatal less than 17 weeks gestation, prenatal including or greater postnatal before 12 months age), SES region. Utilisation testing following a live‐born T21 infant was ascertained via record linkage....
To develop an intervention to assist operators improve their NT (nuchal translucency) technique with the aim of having a distribution within appropriate range. All Australian who are accredited measure undergo annual review clinical practice. Their data is assessed check that acceptable proportion measurements (40-60%) lie above gestation-related median. Operators distributions falling outside range undertook teleconference tutorial. Tutorials were offered on fortnightly basis and involved...
Prenatal screening for Down syndrome should be offered to all pregnant women. The option chosen will influenced by maternal preference, local availability of tests, and the gestation at which woman presents. Screening tests take into account effect age on risk. combined first trimester screen using nuchal translucency serum can achieve a detection rate 90% with 5% false positive rate, when performed appropriately trained individuals. Midtrimester is good women unable undergo screen.
To create and analyse a population-based dataset of genomic tests performed on miscarriage, fetal, infant samples in state with > 73,000 annual births. A research collaboration prenatal postnatal screening diagnostic units the Australian Victoria was formed (the Perinatal Record Linkage (PeRL) collaboration). Analysis state-wide chromosome testing from Jan 2015 to Dec 2016, including all infants up 12 months age, performed. 8827 chromosomal analyses 2762 3661 prenatal, 2404 were obtained....