Prenatal and pre-implantation genetic diagnosis

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

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

Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma

(2016) Felix C.K. Wong et al.   Annual Review of Medicine

Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin

(2016) Matthew W. Snyder et al.   CELL

Mosaicism: “survival of the fittest” versus “no embryo left behind”

(2016) Santiago Munné et al.   FERTILITY AND STERILITY

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy

(2016) Aspasia Destouni et al.   GENOME RESEARCH

Parallel single-cell sequencing links transcriptional and epigenetic heterogeneity

(2016) Christof Angermueller et al.   NATURE METHODS

Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells

(2015) Masoud Zamani Esteki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes

(2015) Ronald J. Wapner et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues

(2015) Mollie A. Minear et al.   Annual Review of Genomics and Human Genetics

Detection of Fetal Subchromosomal Abnormalities by Sequencing Circulating Cell-Free DNA from Maternal Plasma

(2015) C. Zhao et al.   CLINICAL CHEMISTRY

Clinical implementation of NIPT - technical and biological challenges

(2015) P. Brady et al.   CLINICAL GENETICS

Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy

(2015) Celine Lewis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

(2015) Wybo Dondorp et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

(2015) Baran Bayindir et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Optimizing sparse sequencing of single cells for highly multiplex copy number profiling

(2015) Timour Baslan et al.   GENOME RESEARCH

A leap of faith? An interview study with professionals on the use of mitochondrial replacement to avoid transfer of mitochondrial diseases

(2015) K. Hens et al.   HUMAN REPRODUCTION

ESHRE PGD Consortium data collection XIII: cycles from January to December 2010 with pregnancy follow-up to October 2011

(2015) M. De Rycke et al.   HUMAN REPRODUCTION

Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies

(2015) Diana W. Bianchi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

(2015) Christian S Ottolini et al.   NATURE GENETICS

G&T-seq: parallel sequencing of single-cell genomes and transcriptomes

(2015) Iain C Macaulay et al.   NATURE METHODS

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results

(2015) Matthew W. Snyder et al.   NEW ENGLAND JOURNAL OF MEDICINE

Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts

(2015) Ermanno Greco et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cell-free DNA Analysis for Noninvasive Examination of Trisomy

(2015) Mary E. Norton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

(2015) Suzanne Drury et al.   PRENATAL DIAGNOSIS

Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments

(2015) Kun Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Noninvasive fetal genomic, methylomic, and transcriptomic analyses using maternal plasma and clinical implications

(2015) Ada I.C. Wong et al.   TRENDS IN MOLECULAR MEDICINE

Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis

(2015) M. M. Gil et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Prediction model for aneuploidy in early human embryo development revealed by single-cell analysis

(2015) Maria Vera-Rodriguez et al.   Nature Communications

Altered Levels of Mitochondrial DNA Are Associated with Female Age, Aneuploidy, and Provide an Independent Measure of Embryonic Implantation Potential

(2015) Elpida Fragouli et al.   PLoS Genetics

Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study

(2015) Peter Vandenberghe et al.   Lancet Haematology

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing

(2015) Frédéric Amant et al.   JAMA Oncology

Can Comprehensive Chromosome Screening Technology Improve IVF/ICSI Outcomes? A Meta-Analysis

(2015) Minghao Chen et al.   PLoS One

A New Ethical Landscape of Prenatal Testing: Individualizing Choice to Serve Autonomy and Promote Public Health: A Radical Proposal

(2014) Christian Munthe   BIOETHICS

Maternal Plasma RNA Sequencing for Genome-Wide Transcriptomic Profiling and Identification of Pregnancy-Associated Transcripts

(2014) N. B. Y. Tsui et al.   CLINICAL CHEMISTRY

Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

(2014) Olivier Vanakker et al.   European Journal of Medical Genetics

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro

(2014) Senthilkumar A. Natesan et al.   GENETICS IN MEDICINE

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

(2014) K. J. Carss et al.   HUMAN MOLECULAR GENETICS

A New Workflow for Whole-Genome Sequencing of Single Human Cells

(2014) Vera Binder et al.   HUMAN MUTATION

Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation

(2014) Dagan Wells et al.   JOURNAL OF MEDICAL GENETICS

Clonal evolution in breast cancer revealed by single nucleus genome sequencing

(2014) Yong Wang et al.   NATURE

DNA Sequencing versus Standard Prenatal Aneuploidy Screening

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

A Quantitative Comparison of Single-Cell Whole Genome Amplification Methods

(2014) Charles F. A. de Bourcy et al.   PLoS One

Prenatal exome sequencing for fetuses with structural abnormalities: the next step

(2014) S.C. Hillman et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

(2014) Xuyu Cai et al.   Cell Reports

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

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

Genome Analyses of Single Human Oocytes

(2013) Yu Hou et al.   CELL

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

(2013) Y. Wang et al.   CLINICAL CHEMISTRY

Noninvasive Prenatal Methylomic Analysis by Genomewide Bisulfite Sequencing of Maternal Plasma DNA

(2013) F. M. F. Lun et al.   CLINICAL CHEMISTRY

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

(2013) Paul Daniel Brady et al.   GENETICS IN MEDICINE

Single-cell paired-end genome sequencing reveals structural variation per cell cycle

(2013) Thierry Voet et al.   NUCLEIC ACIDS RESEARCH

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

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

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

(2013) Carole Samango-Sprouse 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

A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing

(2013) Shengpei Chen et al.   PRENATAL DIAGNOSIS

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

Single-Cell Exome Sequencing and Monoclonal Evolution of a JAK2-Negative Myeloproliferative Neoplasm

(2012) Yong Hou et al.   CELL

SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations

(2012) Chris MJ van Uum et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Development and validation of an accurate quantitative real-time polymerase chain reaction–based assay for human blastocyst comprehensive chromosomal aneuploidy screening

(2012) Nathan R. Treff et al.   FERTILITY AND STERILITY

Non-invasive prenatal diagnosis of single-gene disorders from maternal blood

(2012) Ana Bustamante-Aragonés et al.   GENE

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics

(2012) Joris R. Vermeesch et al.   HUMAN MUTATION

Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies

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

Non-invasive prenatal measurement of the fetal genome

(2012) H. Christina Fan et al.   NATURE

Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells

(2012) Brock A. Peters et al.   NATURE

From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

(2012) Diana W Bianchi   NATURE MEDICINE

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

(2012) Michael E. Talkowski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner 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

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

Experts' opinions on the benefit of an incidental prenatal diagnosis of sex chromosomal aneuploidy: a qualitative interview survey

(2012) J. J. P. M. Pieters et al.   PRENATAL DIAGNOSIS

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

(2012) Andrew B. Sparks et al.   PRENATAL DIAGNOSIS

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

(2012) Lisa G. Shaffer et al.   PRENATAL DIAGNOSIS

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature

(2012) Amy Breman 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

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

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

Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage

(2012) Shawn L. Chavez et al.   Nature Communications

Embryos of Robertsonian Translocation Carriers Exhibit a Mitotic Interchromosomal Effect That Enhances Genetic Instability during Early Development

(2012) Samer Alfarawati et al.   PLoS Genetics

The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements

(2011) T. Voet et al.   CYTOGENETIC AND GENOME RESEARCH

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

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

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

(2011) Lluís Armengol et al.   HUMAN GENETICS

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization

(2011) E. Vanneste et al.   HUMAN REPRODUCTION

First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis

(2011) S. Alfarawati et al.   HUMAN REPRODUCTION

PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization

(2011) F. Fiorentino et al.   HUMAN REPRODUCTION

Chromosomal mosaicism in human preimplantation embryos: a systematic review

(2011) Jannie van Echten-Arends et al.   HUMAN REPRODUCTION UPDATE

Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA

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

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

(2011) Elisavet A Papageorgiou et al.   NATURE MEDICINE

Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome

(2011) David Peters et al.   NEW ENGLAND JOURNAL OF MEDICINE

Single nucleotide polymorphism microarray–based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos

(2010) Nathan R. Treff et al.   FERTILITY AND STERILITY

Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol

(2010) D.S. Johnson et al.   HUMAN REPRODUCTION

SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH

(2010) N. R. Treff et al.   MOLECULAR HUMAN REPRODUCTION

Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses

(2010) Nathan R. Treff et al.   MOLECULAR HUMAN REPRODUCTION

Whole-genome molecular haplotyping of single cells

(2010) H Christina Fan et al.   NATURE BIOTECHNOLOGY

Non-invasive imaging of human embryos before embryonic genome activation predicts development to the blastocyst stage

(2010) Connie C Wong et al.   NATURE BIOTECHNOLOGY

Recurrent Miscarriage

(2010) D. Ware Branch et al.   NEW ENGLAND JOURNAL OF MEDICINE

Preimplantation genetic diagnosis at 20 years

(2010) Joe Leigh Simpson   PRENATAL DIAGNOSIS

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

Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice

(2010) Arthur L Beaudet   Genome Medicine

Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial

(2009) Sophie Debrock et al.   FERTILITY AND STERILITY

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

(2009) E. Vanneste et al.   HUMAN REPRODUCTION

ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007

(2009) V. Goossens et al.   HUMAN REPRODUCTION

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

Identification of small gains and losses in single cells after whole genome amplification on tiling oligo arrays

(2009) Jochen B. Geigl et al.   NUCLEIC ACIDS RESEARCH

Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: a randomized controlled trial

(2008) T. Hardarson et al.   HUMAN REPRODUCTION

What next for preimplantation genetic screening?

(2008) J. Harper et al.   HUMAN REPRODUCTION

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