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

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

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

Successful Noninvasive Trisomy 18 Detection Using Single Molecule Sequencing

(2013) J. M. E. van den Oever et al.   CLINICAL CHEMISTRY

Feasibility Study of Semiconductor Sequencing for Noninvasive Prenatal Detection of Fetal Aneuploidy

(2013) Y. Yuan et al.   CLINICAL CHEMISTRY

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

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 aneuploidy–ready for prime time?

(2012) Lyn S. Chitty 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 Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to  -Thalassemia

(2012) K.-W. G. Lam 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

Comparison of Next-Generation Sequencing Systems

(2012) Lin Liu et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Non-invasive prenatal measurement of the fetal genome

(2012) H. Christina Fan et al.   NATURE

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

(2012) Diana W. Bianchi 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

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

(2012) Andrew B. Sparks 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

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

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

(2011) Elisavet A Papageorgiou et al.   NATURE MEDICINE

Targeted Massively Parallel Sequencing of Maternal Plasma DNA Permits Efficient and Unbiased Detection of Fetal Alleles

(2010) G. J. W. Liao et al.   CLINICAL CHEMISTRY

Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing

(2010) H. C. Fan et al.   CLINICAL CHEMISTRY

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

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

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS 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

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