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

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

Cytogenetic Analysis of 5572 Patients Referred for Suspected Chromosomal Abnormalities in Morocco

(2012) Nisrine Aboussair et al.   Genetic Testing and Molecular Biomarkers

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

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

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

Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection

(2012) Zuzana Deans et al.   JOURNAL OF MEDICAL ETHICS

Pregnancy outcome following mid-trimester amniocentesis

(2012) F. Corrado et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Realizing Genomic Medicine

(2012) Elizabeth G. Phimister 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

The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008

(2012) Joan K. Morris 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

Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade

(2011) Irene Mademont-Soler et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

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

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

Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA

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

An integrated semiconductor device enabling non-optical genome sequencing

(2011) Jonathan M. Rothberg et al.   NATURE

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

(2011) Elisavet A Papageorgiou et al.   NATURE MEDICINE

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

(2011) Eric Z. Chen et al.   PLoS One

Reliable Detection of Paternal SNPs within Deletion Breakpoints for Non-Invasive Prenatal Exclusion of Homozygous α0-Thalassemia in Maternal Plasma

(2011) Ti-Zhen Yan et al.   PLoS One

First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free β-hCG and PAPP-A: a 5-year prospective study

(2011) S. R. Ghaffari et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Birth defects surveillance in China

(2011) Li Dai et al.   World Journal of Pediatrics

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

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