Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

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Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1024623896
P356DOI10.1186/GM345
P932PMC publication ID3506912
P698PubMed publication ID22640877
P5875ResearchGate publication ID225068686

P2093author name stringPhilippos C Patsalis
Elisavet A Papageorgiou
P2860cites workAccuracy of fetal gender determination by analysis of DNA in maternal plasmaQ74542315
Inconsistency of fetal trophoblast cells in first trimester maternal peripheral blood prevents non-invasive fetal testing using this cell targetQ74612804
Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasmaQ77372981
Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serumQ77543801
The use of in vitro expanded erythroid cells in a model system for the isolation of fetal cells from maternal bloodQ77748744
Detection of aberrant p16 methylation in the plasma and serum of liver cancer patientsQ77804773
A comparison of different density gradients and antibodies for enrichment of fetal erythroblasts by MACSQ78030801
Quantitative analysis of aberrant p16 methylation using real-time quantitative methylation-specific polymerase chain reactionQ78175404
Detection of SNPs in the plasma of pregnant women and in the urine of kidney transplant recipients by mass spectrometryQ79362857
Noninvasive prenatal diagnostic assay for the detection of beta-thalassemiaQ79362858
A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary studyQ79756571
What potent blood: non-invasive prenatal genetic diagnosis and the transformation of modern prenatal careQ80425451
Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphismsQ82218765
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical settingQ83395075
Noninvasive prenatal diagnosis in 2020Q84463573
Bisulfite genomic sequencing: systematic investigation of critical experimental parametersQ24555629
Isolation of fetal DNA from nucleated erythrocytes in maternal bloodQ24558688
DNA methylation profiling of human chromosomes 6, 20 and 22Q24607522
Methylation-specific PCR: a novel PCR assay for methylation status of CpG islandsQ24631957
An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs)Q24655589
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodQ24657306
Digital PCRQ24685020
The development of QUADAS: a tool for the quality assessment of studies of diagnostic accuracy included in systematic reviewsQ24801517
The epigenomics of cancerQ28289975
Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal PlasmaQ28314918
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencingQ28742844
Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statisticsQ28752377
Chromosome-wide and promoter-specific analyses identify sites of differential DNA methylation in normal and transformed human cellsQ29618090
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative studyQ30414408
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.Q30704921
Chip-based genotyping by mass spectrometryQ30761976
HLA-G positive trophoblastic cells in transcervical samples and their isolation and analysis by laser microdissection and QF-PCR.Q30762981
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detectionQ33268343
Hypermethylation of RASSF1A in human and rhesus placentasQ33275493
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasmaQ33360224
Prenatal diagnosis of trisomy 21 through detection of trophoblasts in cervical smearsQ33578717
Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference markerQ33797671
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyQ34029044
Detection of the placental epigenetic signature of the maspin gene in maternal plasma.Q34078379
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.Q34168875
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencingQ34256640
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.Q34385131
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity studyQ34482155
Invasive prenatal diagnostic techniques.Q34501680
mRNA of placental origin is readily detectable in maternal plasma.Q34960254
Clinical practice. Prenatal screening for aneuploidyQ34986134
Noninvasive prenatal diagnosis of a fetal microdeletion syndromeQ35020502
Cell-free fetal DNA and intact fetal cells in maternal blood circulation: implications for first and second trimester non-invasive prenatal diagnosisQ35033076
Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.Q35216798
PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnanciesQ35249607
Epigenomics: beyond CpG islands.Q35778671
Digital PCR for the molecular detection of fetal chromosomal aneuploidyQ35916813
Noninvasive prenatal diagnosis of fetal Rhesus D: ready for Prime(r) TimeQ36274725
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomyQ36406163
Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic reviewQ36927303
MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis.Q36986986
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasmaQ37010246
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysisQ37059519
Recent progress in non-invasive prenatal diagnosisQ37061299
Post-genomics studies and their application to non-invasive prenatal diagnosis.Q37077068
Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidiesQ37164146
The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosisQ37306246
Prenatal diagnosis: update on invasive versus noninvasive fetal diagnostic testing from maternal bloodQ37322448
Detection of circulating fetal nucleic acids: a review of methods and applicationsQ37426191
Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridizationQ39387276
Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach.Q39904859
Synergy of total PLAC4 RNA concentration and measurement of the RNA single-nucleotide polymorphism allelic ratio for the noninvasive prenatal detection of trisomy 21.Q39906674
Life-span of the fetal red blood cellQ40043189
Evaluation of trophoblast HLA-G antigen with a specific monoclonal antibodyQ40885662
Human aneuploidy: incidence, origin, and etiologyQ41202582
Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profilingQ43073656
Presence of filterable and nonfilterable mRNA in the plasma of cancer patients and healthy individuals.Q44079689
Stability of endogenous and added RNA in blood specimens, serum, and plasmaQ44153103
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal bloodQ44645735
Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy lossQ46987831
Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphismsQ47423342
Size distributions of maternal and fetal DNA in maternal plasma.Q47432593
Proteomics: a novel methodology to complement prenatal diagnosis of chromosomal abnormalities and inherited human diseasesQ47578976
Detection of aneuploidy with digital polymerase chain reactionQ48567144
The proportion of fetal nucleated red blood cells in maternal blood: estimation by FACS analysis.Q50939459
A microarray approach for systematic identification of placental-derived RNA markers in maternal plasma.Q51959098
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection.Q53094776
Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation.Q54688617
Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities.Q54770850
Methods to Increase the Percentage of Free Fetal DNA Recovered From the Maternal CirculationQ56001879
Treatment of Maternal Blood Samples with Formaldehyde Does Not Alter the Proportion of Circulatory Fetal Nucleic Acids (DNA and mRNA) in Maternal PlasmaQ56001881
Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndromeQ56765605
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Presence of fetal DNA in maternal plasma and serumQ57075132
Detection of aberrant promoter hypermethylation of tumor suppressor genes in serum DNA from non-small cell lung cancer patientsQ57240090
Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasmaSERPINB2mRNA: a feasibility studyQ58029246
Systematic Search for Placental DNA-Methylation Markers on Chromosome 21: Toward a Maternal Plasma-Based Epigenetic Test for Fetal Trisomy 21Q58029321
Noninvasive Prenatal Detection of Fetal Trisomy 18 by Epigenetic Allelic Ratio Analysis in Maternal Plasma: Theoretical and Empirical ConsiderationsQ58029492
Detection of Trisomy 21 by Quantitative Mass Spectrometric Analysis of Single-Nucleotide PolymorphismsQ58029594
Lack of Dramatic Enrichment of Fetal DNA in Maternal Plasma by Formaldehyde TreatmentQ58029623
Optimization of nucleated red blood cell (NRBC) recovery from maternal blood collected using both layers of a double density gradientQ61021678
Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasmaQ63315257
Detection of Chromosome 21-encoded mRNA of Placental Origin in Maternal PlasmaQ63359242
Allele drop-out can occur in alleles differing by a single nucleotide and is not alleviated by preamplification or minor template increments.Q64913439
Post-partum survival of fetal lymphocytes in the maternal bloodQ67543771
Prenatal diagnosis with fetal cells isolated from maternal blood by multiparameter flow cytometryQ67779086
Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal bloodQ68139499
Prenatal diagnosis of Down's syndromeQ70089435
Fetal cells in maternal blood: recovery by charge flow separationQ71235377
Enrichment of fetal cells from maternal blood by high gradient magnetic cell sorting (double MACS) for PCR-based genetic analysisQ71683040
Detection of trisomy 18 and Y-derived sequences in fetal nucleated cells obtained by transcervical flushingQ72227303
A morphologic study of trophoblast isolated from peripheral blood of pregnant womenQ72410788
Simple and fast "double-MACS" sorting of fetal erythroblasts from maternal blood for PCR-based paternity analysisQ72764163
Prenatal DNA diagnosis of a single-gene disorder from maternal plasmaQ73074402
Presence of fetal RNA in maternal plasmaQ73162878
Apoptosis in fetal nucleated erythrocytes circulating in maternal bloodQ73290722
Prenatal detection of fetal hemoglobin E gene from maternal plasmaQ73398751
Extracellular tyrosinase mRNA within apoptotic bodies is protected from degradation in human serumQ74250288
Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniquesQ74502860
P433issue5
P304page(s)46
P577publication date2012-05-28
P1433published inGenome MedicineQ15816848
P1476titleNon-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications
P478volume4

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cites work (P2860)
Q28550894A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity
Q35738581Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing
Q88990659Current approaches on non-invasive prenatal diagnosis: Prenatal genomics, transcriptomics, personalized fetal diagnosis
Q33702225Detection of fetal epigenetic biomarkers through genome-wide DNA methylation study for non-invasive prenatal diagnosis
Q36384651Effects of sample processing and storage on the integrity of cell-free miRNAs in maternal plasma
Q24186694Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women
Q47618331Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.
Q48276430Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.
Q41475376Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma.
Q38181003Lab-on-a-chip technology: impacting non-invasive prenatal diagnostics (NIPD) through miniaturisation
Q36335133Non-Invasive Screening Tools for Down's Syndrome: A Review
Q38770436Non-invasive prenatal diagnosis of β-thalassemia by detection of the cell-free fetal DNA in maternal circulation: a systematic review and meta-analysis.
Q26783426Noninvasive prenatal diagnosis
Q92839651PLAC4 mRNA SNP in non-invasive prenatal testing of Down syndrome
Q92619561Principles of digital PCR and its applications in current obstetrical and gynecological diseases
Q33891689The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

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