• Publications
  • Influence
Congenital cytomegalovirus infection in pregnancy and the neonate: consensus recommendations for prevention, diagnosis, and therapy.
Congenital cytomegalovirus is the most frequent, yet under-recognised, infectious cause of newborn malformation in developed countries. Despite its clinical and public health importance, questionsExpand
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Fetal fraction and noninvasive prenatal testing: What clinicians need to know
The fetal fraction (FF) is a function of both biological factors and bioinformatics algorithms used to interpret DNA sequencing results. It is an essential quality control component of noninvasiveExpand
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Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development
Prenatal genetics has evolved over the last decade to include application of new 'omics technologies to improve perinatal care. The clinical utility of these technologies when applied to direct fetalExpand
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Population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non‐invasive prenatal testing
To assess the impact of non‐invasive prenatal testing (NIPT) on trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) in a population with >73,000 annual births.
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National decline in invasive prenatal diagnostic procedures in association with uptake of combined first trimester and cell‐free DNA aneuploidy screening
  • S. Robson, L. Hui
  • Medicine
  • The Australian & New Zealand journal of…
  • 1 October 2015
In late 2012, a new screening test for fetal aneuploidy based on circulating cell‐free DNA (cfDNA) became available to Australian women. The introduction of this technology in the United States hasExpand
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Noninvasive prenatal testing for aneuploidy using cell-free DNA – New implications for maternal health
  • L. Hui
  • Medicine
  • Obstetric medicine
  • 7 June 2016
The rapid global uptake of noninvasive prenatal testing for Down syndrome based on maternal plasma cell-free DNA has provided new data on the interrelationship between cell-free DNA and maternalExpand
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Maternal Obesity Affects Fetal Neurodevelopmental and Metabolic Gene Expression: A Pilot Study
Objective One in three pregnant women in the United States is obese. Their offspring are at increased risk for neurodevelopmental and metabolic morbidity. Underlying molecular mechanisms are poorlyExpand
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The Amniotic Fluid Transcriptome: A Source of Novel Information About Human Fetal Development
OBJECTIVE: Amniotic fluid is a complex biological material that provides a unique window into the developing human. Residual amniotic fluid supernatant contains cell-free fetal RNA. The objective ofExpand
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Global gene expression analysis of amniotic fluid cell‐free RNA from recipient twins with twin–twin transfusion syndrome
The objective of this study was to understand the biological pathways involved in twin–twin transfusion syndrome (TTTS) by performing global gene expression analysis of amniotic fluid (AF) cell‐freeExpand
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Non‐invasive prenatal testing for fetal aneuploidy: charting the course from clinical validity to clinical utility
  • L. Hui
  • Medicine
  • Ultrasound in obstetrics & gynecology : the…
  • 1 January 2013
In this issue of the Journal, we see further contributions to the rapidly growing body of literature on non-invasive prenatal testing (NIPT) for fetal aneuploidy using sequencing of maternal plasmaExpand
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