Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

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

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

Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies

(2013) Elles M. J. Boon 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

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

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

(2013) Shengpei Chen et al.   PRENATAL DIAGNOSIS

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

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

Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing

(2013) Shengpei Chen et al.   Genome Medicine

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 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

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

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

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

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

Summarizing and correcting the GC content bias in high-throughput sequencing

(2012) Yuval Benjamini et al.   NUCLEIC ACIDS RESEARCH

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

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

Committee Opinion No. 545

(2012)   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

Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms

(2012) Markus Stumm 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 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

Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics

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

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

Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly

(2012) P. Benn 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

Noninvasive Prenatal Diagnosis of a Case of Down Syndrome due to Robertsonian Translocation by Massively Parallel Sequencing of Maternal Plasma DNA

(2011) F. M. F. Lun 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 a Fetal Microdeletion Syndrome

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

Screening for fetal aneuploidies at 11 to 13 weeks

(2011) Kypros H. Nicolaides   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

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

Prospective validation of first-trimester combined screening for trisomy 21

(2009) K. O. Kagan et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

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

Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A

(2008) K. O. Kagan et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY