Non-invasive prenatal testing for aneuploidy: current status and future prospects

Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma

(2013) Anupama Srinivasan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ACMG statement on noninvasive prenatal screening for fetal aneuploidy

(2013)   GENETICS IN MEDICINE

Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism

(2013) April L. Hall et al.   GENETICS IN MEDICINE

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

(2013) Patricia L. Devers et al.   Journal of Genetic Counseling

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

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

(2013) Caroline Schluth-Bolard et al.   JOURNAL OF MEDICAL GENETICS

Noninvasive Prenatal Testing for Fetal Aneuploidy

(2013) Mary E. Norton et al.   OBSTETRICS AND GYNECOLOGY

Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma

(2013) Stephanie C. Y. Yu et al.   PLoS One

Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma

(2013) Eric Wang et al.   PRENATAL DIAGNOSIS

Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

(2013) Peter Benn et al.   PRENATAL DIAGNOSIS

Nearly a third of abnormalities found after first-trimester screening are different than expected:10-year experience from a single center

(2013) Christina M. L. Alamillo 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

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

(2013) C. Michael Osborne et al.   PRENATAL DIAGNOSIS

A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood

(2013) N. Guex et al.   PRENATAL DIAGNOSIS

Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service

(2013) Tze Kin Lau et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

(2013) Amin R. Mazloom et al.   PRENATAL DIAGNOSIS

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

(2013) Desheng Liang et al.   PRENATAL DIAGNOSIS

Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing

(2013) Tak Y. Leung et al.   PRENATAL DIAGNOSIS

Maternal cfDNA screening for Down syndrome - a cost sensitivity analysis

(2013) Howard Cuckle et al.   PRENATAL DIAGNOSIS

A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing

(2013) Shengpei Chen et al.   PRENATAL DIAGNOSIS

Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples

(2013) Tracy Futch et al.   PRENATAL DIAGNOSIS

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies

(2013) Jacob A. Canick et al.   PRENATAL DIAGNOSIS

First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing

(2013) K. H. Nicolaides et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies

(2013) M. M. Gil et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

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

Single Molecule Sequencing of Free DNA from Maternal Plasma for Noninvasive Trisomy 21 Detection

(2012) J. M. E. van den Oever et al.   CLINICAL CHEMISTRY

Detection of Microdeletion 22q11.2 in a Fetus by Next-Generation Sequencing of Maternal Plasma

(2012) T. J. Jensen et al.   CLINICAL CHEMISTRY

Noninvasive Prenatal Determination of Twin Zygosity by Maternal Plasma DNA Analysis

(2012) J. Z. Z. Qu et al.   CLINICAL CHEMISTRY

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

(2012) Brigitte HW Faas et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Fetal Fraction in Maternal Plasma Cell-Free DNA at 11–13 Weeks’ Gestation: Effect of Maternal and Fetal Factors

(2012) Ghalia Ashoor et al.   FETAL DIAGNOSIS AND THERAPY

Digital PCR for Noninvasive Detection of Aneuploidy: Power Analysis Equations for Feasibility

(2012) Mark I. Evans et al.   FETAL DIAGNOSIS AND THERAPY

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

NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy

(2012) K. L. Wilson et al.   Journal of Genetic Counseling

Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies

(2012) Tze Kin Lau et al.   Journal of Maternal-Fetal & Neonatal Medicine

The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy

(2012) Herb Brar et al.   Journal of Maternal-Fetal & Neonatal Medicine

Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing

(2012) Tze Kin Lau et al.   Journal of Maternal-Fetal & Neonatal Medicine

Clinical utility of noninvasive fetal trisomy (NIFTY) test – early experience

(2012) Tze Kin Lau et al.   Journal of Maternal-Fetal & Neonatal Medicine

Non-invasive prenatal measurement of the fetal genome

(2012) H. Christina Fan et al.   NATURE

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

(2012) Michael E. Talkowski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

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

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

(2012) Peter Benn et al.   OBSTETRICS AND GYNECOLOGY

Noninvasive Prenatal Diagnosis of Fetal Trisomy 21 by Allelic Ratio Analysis Using Targeted Massively Parallel Sequencing of Maternal Plasma DNA

(2012) Gary J. W. Liao et al.   PLoS One

MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21

(2012) Evdokia Tsaliki et al.   PRENATAL DIAGNOSIS

Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome

(2012) Giulia Maria Baffero et al.   PRENATAL DIAGNOSIS

Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy

(2012) Andrew B. Sparks et al.   PRENATAL DIAGNOSIS

Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘False positive’ due to confined placental mosaicism

(2012) H. Choi et al.   PRENATAL DIAGNOSIS

Quantitative fluorescence PCR analysis of >40 000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X

(2012) Kathy Mann et al.   PRENATAL DIAGNOSIS

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 genetic testing for fetal aneuploidy detects maternal trisomy X

(2012) Hong Yao et al.   PRENATAL DIAGNOSIS

DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations

(2012) Jacob A. Canick 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

Noninvasive Whole-Genome Sequencing of a Human Fetus

(2012) J. O. Kitzman et al.   Science Translational Medicine

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

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics

(2011) S Le Scouarnec et al.   HEREDITY

Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA

(2011) Stephanie A. Devaney et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21

(2011) Elisavet A Papageorgiou et al.   NATURE MEDICINE

Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome

(2011) David Peters et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2011) Eric Z. Chen et al.   PLoS One

Prenatal BACs-on-Beads™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis

(2011) F. Vialard et al.   PRENATAL DIAGNOSIS

Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks

(2011) Argyro Syngelaki et al.   PRENATAL DIAGNOSIS

Cost-Effectiveness of Down Syndrome Screening Paradigms

(2010) Aaron B. Caughey et al.   CLINICS IN LABORATORY MEDICINE

Ethical challenges in providing noninvasive prenatal diagnosis

(2010) Peter A Benn et al.   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

(2010) Ann Tabor et al.   FETAL DIAGNOSIS AND THERAPY

Non-invasive aneuploidy detection using free fetal DNA and RNA in maternal plasma: recent progress and future possibilities

(2010) A. T. J. I. Go et al.   HUMAN REPRODUCTION UPDATE

Sensitivity of Noninvasive Prenatal Detection of Fetal Aneuploidy from Maternal Plasma Using Shotgun Sequencing Is Limited Only by Counting Statistics

(2010) H. Christina Fan et al.   PLoS One

Non-Invasive Prenatal Detection of Trisomy 21 Using Tandem Single Nucleotide Polymorphisms

(2010) Sujana Ghanta et al.   PLoS One

Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3

(2010) Jérôme Toutain et al.   PRENATAL DIAGNOSIS

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

(2010) Y. M. D. Lo et al.   Science Translational Medicine

Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy

(2009) H. Christina Fan et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Sites of Differential DNA Methylation between Placenta and Peripheral Blood

(2009) Elisavet A. Papageorgiou et al.   AMERICAN JOURNAL OF PATHOLOGY

Noninvasive Prenatal Detection of Trisomy 21 by an Epigenetic-Genetic Chromosome-Dosage Approach

(2009) Y. K. Tong et al.   CLINICAL CHEMISTRY

Maternal Plasma DNA Analysis with Massively Parallel Sequencing by Ligation for Noninvasive Prenatal Diagnosis of Trisomy 21

(2009) R. W.K. Chiu et al.   CLINICAL CHEMISTRY

Non-invasive prenatal testing: ethical issues explored

(2009) Antina de Jong et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses

(2009) Antonino Forabosco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Microfluidics Digital PCR Reveals a Higher than Expected Fraction of Fetal DNA in Maternal Plasma

(2008) F. M. F. Lun et al.   CLINICAL CHEMISTRY

Systematic Search for Placental DNA-Methylation Markers on Chromosome 21: Toward a Maternal Plasma-Based Epigenetic Test for Fetal Trisomy 21

(2008) S. S.C. Chim et al.   CLINICAL CHEMISTRY

Effect of labor on postpartum clearance of cell-free fetal DNA from the maternal circulation

(2008) L. Hui et al.   PRENATAL DIAGNOSIS

Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y

(2008) Tommy Gerdes et al.   PRENATAL DIAGNOSIS

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

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

(2008) H. C. Fan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA