The Feasibility Study of Non-Invasive Fetal Trisomy 18 and 21 Detection with Semiconductor Sequencing Platform

Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results

(2014) Francesca R. Grati et al.   GENETICS IN MEDICINE

DNA Sequencing versus Standard Prenatal Aneuploidy Screening

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

Maternal Source of False-Positive Fetal Sex Chromosome Aneuploidy in Noninvasive Prenatal Testing

(2014) Christopher J. McNamara et al.   OBSTETRICS AND GYNECOLOGY

Performance Comparison between Rapid Sequencing Platforms for Ultra-Low Coverage Sequencing Strategy

(2014) Shengpei Chen et al.   PLoS One

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing

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

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

(2013) Y. Wang et al.   CLINICAL CHEMISTRY

The new sequencer on the block: comparison of Life Technology’s Proton sequencer to an Illumina HiSeq for whole-exome sequencing

(2013) Joseph F. Boland et al.   HUMAN GENETICS

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

Impact of introducing a national policy for prenatal Down syndrome screening on the diagnostic invasive procedure rate in England

(2013) S. Morgan et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

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

(2013) P. Benn et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center

(2013) T. K. Lau 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

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

Analysis of the impact of PAPP-A, free β-hCG and nuchal translucency thickness on the advanced first trimester screening

(2012) L. Berktold et al.   ARCHIVES OF GYNECOLOGY AND OBSTETRICS

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

First trimester contingent test as a screening method for Down’s syndrome. A prospective study in the general population

(2012) José A. Sainz et al.   Journal of Maternal-Fetal & Neonatal 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

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

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

Screening for fetal aneuploidies at 11 to 13 weeks

(2011) Kypros H. Nicolaides   PRENATAL DIAGNOSIS

Contingent screening for Down syndrome completed in the first trimester: a multicenter study

(2011) M. Muñoz-Cortes et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

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

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY

Screening Advances and Diagnostic Choice: The Problem of Residual Risk

(2008) George P. Henry et al.   FETAL DIAGNOSIS AND THERAPY

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