TRANSLATING ADVANCES IN CELL-FREE FETAL NUCLEIC ACIDS INTO BETTER PERINATAL CARE
Grant number: 1105603 | Funding period: 2016 - 2019
My overall aim is to translate advances in biotechnology into better care for pregnant women. My first aim is to study brain development by analyzing the fluid that surrounds the unborn baby. This work may provide more information to women about their baby’s expected outcome. My second aim is to evaluate the impact of new DNA technologies on the detection of genetic conditions in the baby before birth. This work will confirm if this new generation of tests is fulfilling our high expectations.
Related publications (40)
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
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
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
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
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
Purpose To investigate the relationship between patient-reported outcome (PRO) questionnaire responses and time to late age-relate..
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
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
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
BACKGROUND: Small for gestational age (SGA) is a major determinant of poor perinatal outcome. Detecting SGA at term using ultrasou..
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
OBJECTIVES: To explore the association between timing of diagnosis of common autosomal trisomies, maternal age, and socio-economic..
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
OBJECTIVE: To assess trends in ultrasound-indicated prenatal diagnostic testing performed over the past two decades in the Austral..
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
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
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
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
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
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
OBJECTIVE: To evaluate the implementation of the 2013 Royal Australian and New Zealand College of Obstetricians and Gynaecologists..
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
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
PURPOSE: Amniotic fluid (AF) cell-free RNA is a promising source of information regarding fetal physiology. Digital PCR (dPCR) is ..
Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy
Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS),..
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
BACKGROUND: In recent years, the superior accuracy of maternal plasma cell-free DNA-based prenatal screening has resulted in >50% ..
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
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
BACKGROUND: Cell-free RNA (cfRNA) transcripts known to be expressed by the fetal brain are detectable by quantitative reverse tran..
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
OBJECTIVE: To analyse population-based trends over the entire history of prenatal testing for aneuploidy. DESIGN: Retrospective an..