Prenatal screening for Down syndrome in Australia: Costs and benefits of current and novel screening strategies

Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population

(2013) Ken Song et al.   Journal of Maternal-Fetal & Neonatal Medicine

Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment

(2013) Judith M. E. Walsh et al.   PRENATAL DIAGNOSIS

Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y

(2013) K. H. Nicolaides et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing

(2013) Desheng Liang et al.   PRENATAL DIAGNOSIS

Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18

(2012) Mary E. Norton et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18

(2012) Andrew B. Sparks et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population

(2012) Kypros H. Nicolaides et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18

(2012) Ghalia Ashoor et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

(2012) Fuman Jiang et al.   BMC Medical Genomics

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

(2012) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests

(2012) Melissa Hill et al.   GENETICS IN MEDICINE

From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

(2012) Diana W Bianchi   NATURE MEDICINE

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

(2012) Diana W. Bianchi et al.   OBSTETRICS AND GYNECOLOGY

Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors

(2012) Shan Dan et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci

(2012) Bernhard Zimmermann et al.   PRENATAL DIAGNOSIS

Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method

(2012) G. Ashoor et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

(2011) Mathias Ehrich et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood

(2011) A. J. Sehnert et al.   CLINICAL CHEMISTRY

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

(2011) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

(2011) Eric Z. Chen et al.   PLoS One

Socio-demographic disparities in the uptake of prenatal screening and diagnosis in Western Australia

(2010) Susannah MAXWELL et al.   AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY

Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome

(2010) Marleen R Susman et al.   GENETICS IN MEDICINE

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

(2008) R. W. K. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA