From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges
出版年份 2012 全文链接
标题
From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges
作者
关键词
-
出版物
NATURE MEDICINE
Volume 18, Issue 7, Pages 1041-1051
出版商
Springer Nature
发表日期
2012-07-07
DOI
10.1038/nm.2829
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
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