Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012

scientific article

Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012 is …
instance of (P31):
systematic reviewQ1504425
scholarly articleQ13442814

External links are
P356DOI10.1093/HUMUPD/DMT001
P698PubMed publication ID23396607
P5875ResearchGate publication ID235442038

P50authorSuzanna G.m. FrintsQ71589910
P2093author name stringC E M de Die-Smulders
L J M Smits
A D C Paulussen
L A A P van Winden
M V E Macville
A B C Coumans
E Mersy
South-East Netherlands NIPT Consortium
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DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyQ34029044
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Non-invasive epigenetic detection of fetal trisomy 21 in first trimester maternal plasmaQ34087801
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Increased total cell-free DNA in the serum of pregnant women carrying a fetus affected by trisomy 21.Q38451572
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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
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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.Q40028555
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Replicate real-time PCR testing of DNA in maternal plasma increases the sensitivity of non-invasive fetal sex determinationQ45859237
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 diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.Q46892061
Evaluation of human chorionic gonadotropin beta-subunit mRNA concentrations in maternal serum in aneuploid pregnancies: a feasibility study.Q47433348
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MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21.Q51340074
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.Q51349861
Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21.Q53063252
C21ORF105, A chromosome 21-encoded mRNA, is not a discriminative marker gene for prediction of Down syndrome in maternal plasma.Q54565644
Recovery and amplification of placental RNA from dried maternal blood spots: utility for non-invasive prenatal diagnosis.Q54579005
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the FetusQ56937251
Presence of fetal DNA in maternal plasma and serumQ57075132
Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasmaSERPINB2mRNA: a feasibility studyQ58029246
Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18Q61847821
Quantitative variation analysis of fetal DNA in maternal plasma samples collected before and after amniocentesisQ61853268
Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetusesQ73093957
Quantitation of fetal DNA in maternal serum in normal and aneuploid prenanciesQ73699759
A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary studyQ79756571
Elevated levels of total (maternal and fetal) beta-globin DNA in maternal blood from first trimester pregnancies with trisomy 21Q80512492
Non-invasive prenatal diagnosis of trisomy 21 by dosage ratio of fetal chromosome-specific epigenetic markers in maternal plasmaQ82261782
Non-invasive prenatal diagnosis of trisomy 21 by reverse transcriptase multiplex ligation-dependent probe amplificationQ83388922
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical settingQ83395075
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectobstetrics and gynaecologyQ80015
reproductive medicineQ351870
systematic reviewQ1504425
diagnosisQ16644043
P304page(s)318-329
P577publication date2013-02-08
P1433published inHuman Reproduction UpdateQ15724523
P1476titleNoninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012
P478volume19

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