TRANSLATING ADVANCES IN CELL-FREE FETAL NUCLEIC ACIDS INTO BETTER PERINATAL CARE

Perinatal outcomes and genomic characteristics of fetal copy number variants: An individual record linkage study of 713 pregnancies

Cecilia Pynaker, Fiona Norris, Lisa Hui, Jane Halliday

2023-01-16

OBJECTIVE: To determine the perinatal outcomes of fetuses diagnosed with a pathogenic copy number variant (CNV) or variant of unce..

RNA-Seq of amniotic fluid cell-free RNA: a discovery phase study of the pathophysiology of congenital cytomegalovirus infection

Lisa Hui, Luc De Catte, Sally Beard, Jovana Maksimovic, Neeta L Vora, Alicia Oshlack, Susan P Walker, Natalie J Hannan

2022-10-01

BACKGROUND: Congenital cytomegalovirus infection is the most common perinatal infection and a significant cause of sensorineural h..

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

2021-11-01

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

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

2020-08-01

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

Circulating SPINT1 is a biomarker of pregnancies with poor placental function and fetal growth restriction

Tu'uhevaha J Kaitu'u-Lino, Teresa M MacDonald, Ping Cannon, Nguyen Tuong-Vi, Richard J Hiscock, Nick Haan, Jenny E Myers, Roxanne Hastie, Kirsten M Dane, Anna L Middleton, Intissar Bittar, Amanda N Sferruzzi-Perri, Natasha Pritchard, Alesia Harper, Natalie J Hannan, Valerie Kyritsis, Nick Crinis, Lisa Hui, Susan P Walker, Stephen Tong

2020-05-15

Purpose To investigate the relationship between patient-reported outcome (PRO) questionnaire responses and time to late age-relate..

Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review

Lisa Hui, Emma Szepe, Jane Halliday, Celine Lewis

2020-04-20

The field of prenatal screening and diagnosis for fetal anomalies has been marked by a rapid succession of technological advances,..

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

2020-03-01

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

Circulating Delta-like homolog 1 (DLK1) at 36 weeks is correlated with birthweight and is of placental origin

Teresa M MacDonald, Susan P Walker, Richard Hiscock, Ping Cannon, Alesia Harper, Elizabeth Murray, Lisa Hui, Kirsten Dane, Anna Middleton, Valerie Kyritsis, Natasha de Alwis, Natalie J Hannan, Stephen Tong, Tu'uhevaha J Kaitu'u-Lino

2020-02-01

INTRODUCTION: Recently, Delta-like homolog 1 (DLK1) was identified as a potential marker of small-for-gestational-age (SGA; <10th ..

Accuracy of clinical suspicion of growth restriction at term despite a normal growth ultrasound: A retrospective cohort study

Brittany Green, Lisa Hui, Roxanne Hastie, Stephen Tong, Fiona C Brownfoot

2020-01-09

BACKGROUND: Small for gestational age (SGA) is a major determinant of poor perinatal outcome. Detecting SGA at term using ultrasou..

Fetal fraction and noninvasive prenatal testing: What clinicians need to know

Lisa Hui, Diana W Bianchi

2019-12-10

The fetal fraction (FF) is a function of both biological factors and bioinformatics algorithms used to interpret DNA sequencing re..

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

2019-11-06

OBJECTIVES: To explore the association between timing of diagnosis of common autosomal trisomies, maternal age, and socio-economic..

Should second-trimester hypoplastic nasal bone be sole indication for diagnostic testing with chromosomal microarray analysis?

E Lostchuck, L Hui

2019-06-01

Population-based trends in invasive prenatal diagnosis for ultrasound-based indications: two decades of change from 1994 to 2016

E Lostchuck, A Poulton, J Halliday, L Hui

2019-04-01

OBJECTIVE: To assess trends in ultrasound-indicated prenatal diagnostic testing performed over the past two decades in the Austral..

Prospective longitudinal assessment of the fetal left modified Myocardial Performance Index

Teresa M MacDonald, Alice J Robinson, Susan P Walker, Lisa Hui

2019-03-04

INTRODUCTION: The fetal left modified Myocardial Performance Index (Mod-myocardial performance index (MPI)) is a measure of systol..

Seminars in Fetal and Neonatal Medicine

2019-01-01

Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal testing

Allanah Howard-Bath, Alice Poulton, Jane Halliday, Lisa Hui

2018-12-01

OBJECTIVE: To assess the impact of non-invasive prenatal testing (NIPT) on trends in the prenatal diagnosis of sex chromosome aneu..

Prenatal and preimplantation genetic diagnosis for single gene disorders: A population-based study from 1977 to 2016

Alice Poulton, Sharon Lewis, Lisa Hui, Jane L Halliday

2018-11-01

OBJECTIVE: To examine the statewide utilisation of prenatal diagnosis (PNDx) and preimplantation genetic diagnosis (PGT-M) for sin..

Assessing the sensitivity of placental growth factor and soluble fms-like tyrosine kinase 1 at 36 weeks' gestation to predict small-for-gestational-age infants or late-onset preeclampsia: a prospective nested case-control study

Teresa M MacDonald, Tran Chuong, Tu'uhevaha J Kaitu'u-Lino, Shaun P Brennecke, Richard J Hiscock, Lisa Hui, Kirsten M Dane, Anna L Middleton, Ping Cannon, Susan P Walker, Stephen Tong

2018-08-31

BACKGROUND: Fetal growth restriction is a disorder of placental dysfunction with three to four-fold increased risk of stillbirth. ..

Prenatal diagnosis and socioeconomic status in the non-invasive prenatal testing era: A population-based study

Lisa Hui, Jenna Barclay, Alice Poulton, Briohny Hutchinson, Jane L Halliday

2018-08-01

BACKGROUND: Advances in technology can bring great benefits to human health, but their implementation may be influenced by socioec..

Prenatal diagnostic testing and atypical chromosome abnormalities following combined first-trimester screening: implications for contingent models of non-invasive prenatal testing

A Lindquist, A Poulton, J Halliday, L Hui

2018-04-01

OBJECTIVES: To investigate by means of a population-based analysis of a cohort of women who underwent combined first-trimester scr..

Perinatal management of hepatitis B virus: Clinical implementation of updated Australasian management guidelines

Hannah Bergin, Gillian Wood, Susan P Walker, Lisa Hui

2018-03-01

OBJECTIVE: To evaluate the implementation of the 2013 Royal Australian and New Zealand College of Obstetricians and Gynaecologists..

What is the real "price" of more prenatal screening and fewer diagnostic procedures? Costs and trade-offs in the genomic era

Lisa Hui, Mary Norton

2018-03-01

Any screening approach, including with cell-free DNA, will have an inferior detection rate compared with 100% diagnostic testing w..

Cytomegalovirus (CMV) infection and pregnancy-potential for improvements in Australasian maternity health providers' knowledge

AW Shand, W Luk, N Nassar, L Hui, K Dyer, W Rawlinson

2018-01-01

PURPOSE: To assess the knowledge, practice and attitudes of maternity clinicians regarding congenital cytomegalovirus (CMV). It is..

Measuring fetal brain and lung transcripts in amniotic fluid supernatant: a comparison of digital PCR and RT-qPCR methods

Lisa Hui, Sally Beard, Natalie J Hannan

2018-01-01

PURPOSE: Amniotic fluid (AF) cell-free RNA is a promising source of information regarding fetal physiology. Digital PCR (dPCR) is ..

Prenatal diagnosis for single‐gene disorders in Victoria, Australia, 1977‐201

Alice Poulton, Jane Halliday, Sharon Lewis, David Amor, Lisa Hui

2018-01-01

The evolution of ultrasound-indicated prenatal diagnosis over the past two decades: a state-wide retrospective cohort study from 1994-2016

Emily Lostchuck, Alice Poulton, Jane Halliday, Lisa Hui

2018-01-01

Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday

2017-12-01

PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS),..

OC15.02: Evolving role of ultrasound in the NIPT era: population-based trends in screening and diagnostic testing for fetal aneuploidy

L Hui, B Hutchinson, A Poulton, J Halliday

2017-09-01

Poster Abstracts of the ISPD 21st International Conference on Prenatal Diagnosis and Therapy, San Diego, California, USA, 9-12 July 2017

2017-07-01

Declining invasive prenatal diagnostic procedures: A comparison of tertiary hospital and national data from 2012 to 2015

Kristine Johnson, Joanne Kelley, Virginia Saxton, Susan P Walker, Lisa Hui

2017-04-01

BACKGROUND: In recent years, the superior accuracy of maternal plasma cell-free DNA-based prenatal screening has resulted in >50% ..

Noninvasive Prenatal DNA Testing: The Vanguard of Genomic Medicine

Lisa Hui, Diana W Bianchi

2017-01-01

Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized p..

Population‐based trends in the prenatal diagnosis of sexchromosome aneuploidies in the pre‐and post‐NIPT era

Allanah Howard-Bath, Alice Poulton, Jane Halliday, Lisa Hui

2017-01-01

Socioeconomic status and clinical variation in prenatal testing in the NIPT era

Lisa Hui, Jenna Barclay, Alice Poulton, Briohny Hutchinson, Jane Halliday

2017-01-01

Noninvasive prenatal testing for aneuploidy using cell-free DNA - New implications for maternal health

Lisa Hui

2016-12-01

The rapid global uptake of noninvasive prenatal testing for Down syndrome based on maternal plasma cell-free DNA has provided new ..

Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening

Paul A Cohen, Nicola Flowers, Stephen Tong, Natalie Hannan, Mark D Pertile, Lisa Hui

2016-08-24

BACKGROUND: Non-invasive prenatal testing (NIPT) identifies fetal aneuploidy by sequencing cell-free DNA in the maternal plasma. P..

A comparison of sample collection methods for quantifying cell-free fetal neurodevelopment transcripts in amniotic fluid.

Lisa Hui, Stephen Tong, Tu'Uhevaha J Kaitu'u-Lino, Natalie J Hannan

2016-07-07

BACKGROUND: Cell-free RNA (cfRNA) transcripts known to be expressed by the fetal brain are detectable by quantitative reverse tran..

Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screening

L Hui

2016-02-01

How to safeguard competency and training in invasive prenatal diagnosis: 'the elephant in the room'

L Hui, A Tabor, SP Walker, MD Kilby

2016-01-01

Noninvasive Prenatal Testing for Chromosomal and Genetic Conditions

Lisa Hui

2016-01-01

Population-based trends in prenatal screening and diagnosis for aneuploidy: a retrospective analysis of 38years of state-wide data

L Hui, EE Muggli, JL Halliday

2016-01-01

OBJECTIVE: To analyse population-based trends over the entire history of prenatal testing for aneuploidy. DESIGN: Retrospective an..