Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories

Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA

(2014) Richard P. Porreco et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Clinical experience and follow-up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing

(2014) Pe'er Dar et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy

(2014) Kitty K. Lo et al.   BIOINFORMATICS

Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness

(2014) Meng Meng et al.   GENETICS IN MEDICINE

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

(2014) Maria I. New et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

DNA Sequencing versus Standard Prenatal Aneuploidy Screening

(2014) Diana W. Bianchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort

(2014) Eugene Pergament et al.   OBSTETRICS AND GYNECOLOGY

Mrassf1a-Pap, a Novel Methylation-Based Assay for the Detection of Cell-Free Fetal DNA in Maternal Plasma

(2014) Jessica M. E. van den Oever et al.   PLoS One

Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery

(2014) Dineika Chandrananda et al.   PLoS One

Model-Based Analysis of Costs and Outcomes of Non-Invasive Prenatal Testing for Down’s Syndrome Using Cell Free Fetal DNA in the UK National Health Service

(2014) Stephen Morris et al.   PLoS One

High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm

(2014) Tianjiao Chu et al.   PRENATAL DIAGNOSIS

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

(2014) Karen Buysse et al.   PRENATAL DIAGNOSIS

Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma

(2014) Peter Benn et al.   PRENATAL DIAGNOSIS

Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing

(2014) S. C. Y. Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis

(2014) Chong Chen et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Detection of fetal sex chromosome aneuploidy by massively parallel sequencing of maternal plasma DNA: initial experience in a Chinese hospital

(2014) H. Yao et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

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

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

Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy?

(2013) Michael T. Mennuti et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture

(2013) Karen Buysse et al.   CLINICAL BIOCHEMISTRY

Optimizing blood collection, transport and storage conditions for cell free DNA increases access to prenatal testing

(2013) David Wong et al.   CLINICAL BIOCHEMISTRY

Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?

(2013) D. W. Bianchi et al.   CLINICAL CHEMISTRY

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

(2013) Y. Wang et al.   CLINICAL CHEMISTRY

Circulating Fetal Cell-Free DNA Fractions Differ in Autosomal Aneuploidies and Monosomy X

(2013) R. P. Rava et al.   CLINICAL CHEMISTRY

Maternal Plasma Cell-Free Fetal and Maternal DNA at 11-13 Weeks' Gestation: Relation to Fetal and Maternal Characteristics and Pregnancy Outcomes

(2013) L.C.Y. Poon et al.   FETAL DIAGNOSIS AND THERAPY

Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood

(2013) Kypros H. Nicolaides et al.   FETAL DIAGNOSIS AND THERAPY

ACMG statement on noninvasive prenatal screening for fetal aneuploidy

(2013)   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

WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme

(2013) Roy Straver et al.   NUCLEIC ACIDS RESEARCH

High-Throughput Massively Parallel Sequencing for Fetal Aneuploidy Detection from Maternal Plasma

(2013) Taylor J. Jensen 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

Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population

(2013) Yijun Song 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

SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy

(2013) Carole Samango-Sprouse et al.   PRENATAL DIAGNOSIS

Cell-free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion

(2013) C. J. Searle 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

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

Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue

(2013) Min Pan 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

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

52: Maternal plasma DNA sequencing: effects of multiple gestation on aneuploidy detection and the relative cell-free fetal DNA (cffDNA) per fetus

(2012) Anupama Srinivasan 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

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

(2012) T. J. Jensen 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

Influence of Temperature during Transportation on Cell-Free DNA Analysis

(2012) Mats Hidestrand 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

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

Increased Death of Adipose Cells, a Path to Release Cell-Free DNA Into Systemic Circulation of Obese Women

(2012) Maricela Haghiac et al.   Obesity

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

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

Fast Computation and Applications of Genome Mappability

(2012) Thomas Derrien et al.   PLoS One

Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing

(2012) Shan Dan 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

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

(2012) H. Choi 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

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

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

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 fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: evaluation of a 7-year clinical experience

(2011) PG Scheffer et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

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 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

Implementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield

(2011) Angela N. Barrett et al.   PLoS One

Cell-free fetal DNA in specimen from pregnant women is stable up to 5 days

(2011) Sina P. Müller et al.   PRENATAL DIAGNOSIS

Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination

(2010) A. O. H. Nygren 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

Ethical challenges in providing noninvasive prenatal diagnosis

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

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

Sites of Differential DNA Methylation between Placenta and Peripheral Blood

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

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

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

(2009) Can Alkan et al.   NATURE GENETICS

Reliability of Fetal Sex Determination Using Maternal Plasma

(2009) Peter G. Scheffer et al.   OBSTETRICS AND GYNECOLOGY

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

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

Whole-genome sequencing and variant discovery in C. elegans

(2008) LaDeana W Hillier et al.   NATURE METHODS

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

(2008) J. C. Dohm et al.   NUCLEIC ACIDS RESEARCH

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