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

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

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

Genetic Counseling and the Ethical Issues Around Direct to Consumer Genetic Testing

(2012) Alice K. Hawkins et al.   Journal of Genetic Counseling

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

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

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

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

Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011

(2012) Peter Benn et al.   PRENATAL DIAGNOSIS

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

1: A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and high risk prenatal diagnosis

(2011) Ronald Wapner   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

Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA

(2011) N. B. Y. Tsui et al.   BLOOD

Noninvasive Prenatal Diagnosis of a Case of Down Syndrome due to Robertsonian Translocation by Massively Parallel Sequencing of Maternal Plasma DNA

(2011) F. M. F. Lun et al.   CLINICAL CHEMISTRY

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

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

(2011) G D'Amours et al.   CLINICAL GENETICS

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

Proof of Concept Study to Assess Fetal Gene Expression in Amniotic Fluid by NanoArray PCR

(2011) Lauren J. Massingham et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Placental-specific microRNA in maternal circulation – identification of appropriate pregnancy-associated microRNAs with diagnostic potential

(2011) Katerina Kotlabova et al.   JOURNAL OF REPRODUCTIVE IMMUNOLOGY

Get ready for the flood of fetal gene screening

(2011) Henry T. Greely   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 a Fetal Microdeletion Syndrome

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

The Amniotic Fluid Transcriptome

(2011) Lisa Hui et al.   OBSTETRICS AND GYNECOLOGY

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

(2011) Eric Z. Chen et al.   PLoS One

Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England

(2011) Melissa Hill et al.   PRENATAL DIAGNOSIS

Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths

(2011) R. Alan Harris et al.   PRENATAL DIAGNOSIS

Report of the first nationally implemented clinical routine screening for fetal RHD in D− pregnant women to ascertain the requirement for antenatal RhD prophylaxis

(2011) Frederik Banch Clausen et al.   TRANSFUSION

All Our Babies Cohort Study: recruitment of a cohort to predict women at risk of preterm birth through the examination of gene expression profiles and the environment

(2011) Sara K Gracie et al.   BMC Pregnancy and Childbirth

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A transcriptional profile of the decidua in preeclampsia

(2010) Mari Løset et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Application of a target array Comparative Genomic Hybridization to prenatal diagnosis

(2010) Ji Hyeon Park et al.   BMC Medical Genetics

Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma

(2010) K. Miura et al.   CLINICAL CHEMISTRY

Targeted Massively Parallel Sequencing of Maternal Plasma DNA Permits Efficient and Unbiased Detection of Fetal Alleles

(2010) G. J. W. Liao 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

Non-invasive prenatal determination of fetal sex: translating research into clinical practice

(2010) M Hill et al.   CLINICAL GENETICS

Noninvasive Fetal Blood Grouping: Present and Future

(2010) Geoff Daniels et al.   CLINICS IN LABORATORY MEDICINE

Ethical challenges in providing noninvasive prenatal diagnosis

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

Insights into fetal and neonatal development through analysis of cell-free RNA in body fluids

(2010) Diana W. Bianchi et al.   EARLY HUMAN DEVELOPMENT

Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome

(2010) Marleen R Susman et al.   GENETICS IN MEDICINE

Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18

(2010) Keiko Koide et al.   HUMAN GENETICS

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

(2010) B. H. W. Faas et al.   JOURNAL OF MEDICAL GENETICS

The levels of hypoxia-regulated microRNAs in plasma of pregnant women with fetal growth restriction

(2010) J.-F. Mouillet et al.   PLACENTA

Non-Invasive Prenatal Detection of Trisomy 21 Using Tandem Single Nucleotide Polymorphisms

(2010) Sujana Ghanta et al.   PLoS One

The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma

(2010) Kiyonori Miura et al.   PRENATAL DIAGNOSIS

Prenatal Diagnosis: past, present, and future

(2010) Malcolm A. Ferguson-Smith et al.   PRENATAL DIAGNOSIS

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting

(2010) Idit Maya et al.   PRENATAL DIAGNOSIS

Non-Invasive Prenatal Diagnosis Using Cell-Free Fetal DNA Technology: Applications and Implications

(2010) A. Hall et al.   Public Health Genomics

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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth

(2009) Gordana Raca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ORIGINAL ARTICLE: The Transcriptome of the Fetal Inflammatory Response Syndrome

(2009) Sally A. Madsen-Bouterse et al.   AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY

Human Villous Trophoblasts Express and Secrete Placenta-Specific MicroRNAs into Maternal Circulation via Exosomes1

(2009) Shan-Shun Luo et al.   BIOLOGY OF REPRODUCTION

Synergy of Total PLAC4 RNA Concentration and Measurement of the RNA Single-Nucleotide Polymorphism Allelic Ratio for the Noninvasive Prenatal Detection of Trisomy 21

(2009) N. B.Y. Tsui et al.   CLINICAL CHEMISTRY

The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health–Centers for Disease Control and Prevention Multidisciplinary Workshop

(2009) Muin J Khoury et al.   GENETICS IN MEDICINE

Practical and Ethical Considerations of Noninvasive Prenatal Diagnosis

(2009) Peter A. Benn   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

(2009) M Tyreman et al.   JOURNAL OF MEDICAL GENETICS

ACOG Committee Opinion No. 446: Array Comparative Genomic Hybridization in Prenatal Diagnosis

(2009)   OBSTETRICS AND GYNECOLOGY

Placenta-Derived Fetal Specific mRNA Is More Readily Detectable in Maternal Plasma than in Whole Blood

(2009) Macy M. S. Heung et al.   PLoS One

Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray

(2009) Justine Coppinger et al.   PRENATAL DIAGNOSIS

Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype

(2009) Linda Kleeman et al.   PRENATAL DIAGNOSIS

Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses

(2009) D. K. Slonim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Placental Gene Expression Profile in Intrauterine Growth Restriction Due to Placental Insufficiency

(2009) Vasilis Sitras et al.   Reproductive Sciences

Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art

(2008) YMD Lo   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

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

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

Detection and Characterization of Placental MicroRNAs in Maternal Plasma

(2008) S. S.C. Chim et al.   CLINICAL CHEMISTRY

Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens

(2008) Lisa G. Shaffer et al.   PRENATAL DIAGNOSIS

Increased level of cell-free placental mRNA in a subgroup of placenta previa that needs hysterectomy

(2008) Kiyonori Miura et al.   PRENATAL DIAGNOSIS

High-resolution array genomic hybridization in prenatal diagnosis

(2008) J. M. Friedman   PRENATAL DIAGNOSIS

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

(2008) Ignatia B. Van den Veyver et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

(2008) F. M. F. Lun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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