Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

scientific article

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.2147/TACG.S35602
P8608Fatcat IDrelease_lynyscheszd5rjoc3sj3defaja
P3181OpenCitations bibliographic resource ID4133039
P932PMC publication ID4104725
P698PubMed publication ID25053891

P50authorVardit RavitskyQ58623265
Francois AudibertQ46312811
P2093author name stringSylvie Langlois
Jean Gekas
Francois Rousseau
Hazar Haidar
David Van den Berg
P2860cites workNoninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodQ24657306
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Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statisticsQ28752377
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasmaQ33360224
Prenatal screening for fetal aneuploidy in singleton pregnanciesQ33958921
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyQ34029044
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencingQ34256640
Rapid clearance of fetal DNA from maternal plasmaQ34388637
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity studyQ34482155
Genetic disorders in children and young adults: a population studyQ35245546
Digital PCR for the molecular detection of fetal chromosomal aneuploidyQ35916813
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.Q51349861
Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast.Q51767524
Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011.Q51866446
Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21.Q53063252
Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant.Q53552181
Early detection of cell-free fetal DNA in maternal plasma.Q53576548
Maldi-tof mass spectrometry compared with real-time PCR for detection of fetal cell-free DNA in maternal plasma.Q54569315
Non-invasive prenatal diagnosis for single gene disorders: experience of patientsQ56266931
Presence of fetal DNA in maternal plasma and serumQ57075132
Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18Q61847821
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester populationQ61847837
Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasmaQ77372981
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A new era in noninvasive prenatal testingQ87109039
Syndromes and disorders associated with mental retardationQ36307182
Chromosomal microarray versus karyotyping for prenatal diagnosisQ36546668
Second-trimester diagnosis of triploidy: a series of four casesQ36975338
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasmaQ37010246
Non-invasive prenatal diagnosis of single gene disorders: how close are we?Q37072130
Non-invasive prenatal diagnosis and determination of fetal Rh statusQ37077064
The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosisQ37306246
Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testingQ37542670
Current controversies in prenatal diagnosis 2: Down syndrome screening: is ultrasound better than cell-free nucleic acids in maternal blood?Q37849710
Noninvasive prenatal diagnosis empowered by high-throughput sequencingQ37998943
Genomic analysis of fetal nucleic acids in maternal bloodQ38015501
Prenatal diagnosis and 47,XXY.Q38077524
Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasmaQ38087410
The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress madeQ38099617
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal bloodQ44645735
A new era in noninvasive prenatal testingQ45720041
Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnanciesQ46405224
Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factorsQ46446186
Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraintQ46448014
Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal DiagnosisQ46945516
Size distributions of maternal and fetal DNA in maternal plasma.Q47432593
Noninvasive prenatal testing: limitations and unanswered questionsQ47622449
DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestationsQ47764889
P275copyright licenseCreative Commons Attribution-NonCommercial 3.0 UnportedQ18810331
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjectDown syndromeQ47715
P304page(s)127-31
P577publication date2014-01-01
P1433published inThe Application of Clinical GeneticsQ15817525
P1476titleIdentification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma
P478volume7

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cites work (P2860)
Q40459322Contingent non-invasive prenatal testing: an opportunity to improve non-genetic aspects of fetal aneuploidy screening.
Q50456521Incompatible with Care: Examining Trisomy 18 Medical Discourse and Families' Counter-discourse for Recuperative Ethos.
Q36094842Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome
Q36184534Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Q26764809Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues
Q38835303Proteomic profile of serum of pregnant women carring a fetus with Down syndrome using nano uplc Q-tof ms/ms technology

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