Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

(2016) Kitty K. Lo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Highly multiplexed targeted DNA sequencing from single nuclei

(2016) Marco L Leung et al.   Nature Protocols

Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing

(2015) John Williams et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluorescence staining

(2015) Daniel E Campton et al.   BMC CANCER

Randomized comparison of next-generation sequencing and array comparative genomic hybridization for preimplantation genetic screening: a pilot study

(2015) Zhihong Yang et al.   BMC Medical Genomics

Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing

(2015) Brock A. Peters et al.   GENOME RESEARCH

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

(2015) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA

(2015) Ai-hua Yin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Validation of next-generation sequencing for comprehensive chromosome screening of embryos

(2015) Allen Kung et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Preimplantation genetic screens

(2015) A. L. Beaudet   SCIENCE

Whole genome prediction for preimplantation genetic diagnosis

(2015) Akash Kumar et al.   Genome Medicine

Development and validation of a next-generation sequencing–based protocol for 24-chromosome aneuploidy screening of embryos

(2014) Francesco Fiorentino et al.   FERTILITY AND STERILITY

The clinical effectiveness of preimplantation genetic diagnosis for aneuploidy in all 24 chromosomes (PGD-A): systematic review

(2014) Evelyn Lee et al.   HUMAN REPRODUCTION

A new marker set that identifies fetal cells in maternal circulation with high specificity

(2014) Lotte Hatt et al.   PRENATAL DIAGNOSIS

Validation of automatic scanning of microscope slides in recovering rare cellular events: application for detection of fetal cells in maternal blood

(2014) Ahmed Emad et al.   PRENATAL DIAGNOSIS

Point mutations as a source of de novo genetic disease

(2013) Joep de Ligt et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains

(2013) Niels Van der Aa et al.   NUCLEIC ACIDS RESEARCH

Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays

(2012) Weimin Bi et al.   PRENATAL DIAGNOSIS

Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy

(2012) Hussein Mouawia et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell

(2012) C. Zong et al.   SCIENCE

Noninvasive Whole-Genome Sequencing of a Human Fetus

(2012) J. O. Kitzman et al.   Science Translational Medicine

Tumour evolution inferred by single-cell sequencing

(2011) Nicholas Navin et al.   NATURE

Accuracy of fetal gender detection using a conventional nested PCR assay of maternal plasma in daily practice

(2010) Warunee TUNGWIWAT et al.   AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

CGHweb: a tool for comparing DNA copy number segmentations from multiple algorithms

(2008) W. Lai et al.   BIOINFORMATICS

Quantitative abnormalities of fetal trophoblast cells in maternal circulation in preeclampsia

(2008) Ling Zhang et al.   PRENATAL DIAGNOSIS

The best approach for early prediction of fetal gender by using free fetal DNA from maternal plasma

(2008) Elena Picchiassi et al.   PRENATAL DIAGNOSIS

Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques

(2003) K Krabchi et al.   CLINICAL GENETICS