(Q34286705)

1 August 2017

title

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

1 reference

1 August 2017

main subject

personalized medicine

1 reference

1

Diana W Bianchi

1 reference

1 August 2017

language of work or name

English

0 references

publication date

6 July 2012

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1 August 2017

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1 August 2017

volume

18

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1 August 2017

issue

7

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1 August 2017

page(s)

1041-1051

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Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18.

1 August 2017

cites work

1 reference

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6 July 2018

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6 July 2018

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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

6 July 2018

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6 July 2018

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

6 July 2018

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The amniotic fluid transcriptome: a source of novel information about human fetal development

6 July 2018

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Noninvasive prenatal diagnosis of a fetal microdeletion syndrome

6 July 2018

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

6 July 2018

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Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis

6 July 2018

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Proof of concept study to assess fetal gene expression in amniotic fluid by nanoarray PCR

6 July 2018

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Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing

6 July 2018

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

6 July 2018

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Noninvasive fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: evaluation of a 7-year clinical experience

6 July 2018

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

6 July 2018

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

6 July 2018

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Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

6 July 2018

1 reference

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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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

A transcriptional profile of the decidua in preeclampsia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Application of a target array comparative genomic hybridization to prenatal diagnosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Noninvasive fetal blood grouping: present and future

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Ethical challenges in providing noninvasive prenatal diagnosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

The transcriptome of the fetal inflammatory response syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Synergy of total PLAC4 RNA concentration and measurement of the RNA single-nucleotide polymorphism allelic ratio for the noninvasive prenatal detection of trisomy 21.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Placenta-derived fetal specific mRNA is more readily detectable in maternal plasma than in whole blood

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Human villous trophoblasts express and secrete placenta-specific microRNAs into maternal circulation via exosomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

High-resolution array genomic hybridization in prenatal diagnosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Placenta-derived, cellular messenger RNA expression in the maternal blood of preeclamptic women

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

The NCBI dbGaP database of genotypes and phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Gene expression analysis in pregnant women and their infants identifies unique fetal biomarkers that circulate in maternal blood.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Digital PCR for the molecular detection of fetal chromosomal aneuploidy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Cell-free mRNA concentrations of CRH, PLAC1, and selectin-P are increased in the plasma of pregnant women with preeclampsia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Distinct subsets of microRNAs are expressed differentially in the human placentas of patients with preeclampsia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

ACOG Practice Bulletin No. 77: Screening for Fetal Chromosomal Abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

The Connectivity Map: using gene-expression signatures to connect small molecules, genes, and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Trophoblastic oxidative stress and the release of cell-free feto-placental DNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Oxidative stress: a bridge between Down's syndrome and Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Detection of the placental epigenetic signature of the maspin gene in maternal plasma.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Noninvasive prenatal diagnosis of fetal Rhesus D: ready for Prime(r) Time

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Gene expression analysis of cultured amniotic fluid cell with Down syndrome by DNA microarray

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Global gene expression analysis of the living human fetus using cell-free messenger RNA in amniotic fluid

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Cell-free fetal DNA in maternal blood: kinetics, source and structure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

mRNA of placental origin is readily detectable in maternal plasma.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal Plasma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

Prenatal Diagnosis: past, present, and future.

6 July 2018

1 reference

At-home fetal DNA gender testing: caveat emptor

21 January 2018

1 reference

Genetic counseling and the ethical issues around direct to consumer genetic testing

21 January 2018

1 reference

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

21 January 2018

1 reference

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Presence of fetal DNA in maternal plasma and serum

21 January 2018

1 reference

Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast.

21 January 2018

1 reference

Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism

21 January 2018

1 reference

Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis.

21 January 2018

1 reference

Prenatal Determination of Fetal RhD Type by DNA Amplification

21 January 2018

1 reference

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

21 January 2018

1 reference

Sharpening the tools: a summary of a National Institutes of Health workshop on new technologies for detection of fetal cells in maternal blood for early prenatal diagnosis.

21 January 2018

1 reference

Detection of aneuploidy with digital polymerase chain reaction

21 January 2018

1 reference

Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood

21 January 2018

1 reference

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

21 January 2018

1 reference

Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing

21 January 2018

1 reference

Size distributions of maternal and fetal DNA in maternal plasma.

21 January 2018

1 reference

Genome-wide expression analysis of cultured trophoblast with trisomy 21 karyotype.

21 January 2018

1 reference

Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The concentration of circulating corticotropin-releasing hormone mRNA in maternal plasma is increased in preeclampsia.

21 January 2018

1 reference

Practical and ethical considerations of noninvasive prenatal diagnosis.

21 January 2018

1 reference

Get ready for the flood of fetal gene screening

21 January 2018

1 reference

Should non-invasiveness change informed consent procedures for prenatal diagnosis?

21 January 2018

1 reference

Stability of endogenous and added RNA in blood specimens, serum, and plasma

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4433004

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

28 October 2018

1 reference

Detection and Characterization of Placental MicroRNAs in Maternal Plasma

21 January 2018

1 reference

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

21 January 2018

1 reference

Genes on the Web--direct-to-consumer marketing of genetic testing

21 January 2018

1 reference

12 December 2020

Time profile of appearance and disappearance of circulating placenta-derived mRNA in maternal plasma

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma

1 reference

12 December 2020

Presence of fetal RNA in maternal plasma

1 reference

12 December 2020

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

1 reference

12 December 2020

Evaluation of bidirectional transfer of plasma DNA through placenta

1 reference

12 December 2020

Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18

1 reference

12 December 2020

ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

1 reference

12 December 2020

Transcriptome analysis of human autosomal trisomy

1 reference

12 December 2020

Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation

1 reference

12 December 2020

Placental gene expression profile in intrauterine growth restriction due to placental insufficiency

1 reference

12 December 2020

Educating health-care professionals about genetics and genomics

1 reference

12 December 2020

Identifiers

DOI

10.1038/NM.2829

1 reference

1 August 2017

1 reference

1 August 2017

1 reference