Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

scientific article published on 2 October 2017

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/GIM.2017.132
P932PMC publication ID5929118
P698PubMed publication ID29121006

P50authorAngelique J.A. KooperQ89414470
Ilse FeenstraQ92869044
Brigitte H. W. FaasQ130284899
P2093author name stringMerel C van Maarle
Erik A Sistermans
Lidewij Henneman
Sander Bollen
Dick Oepkes
Marjan M Weiss
Rutger W W Brouwer
Diane Van Opstal
Robert-Jan H Galjaard
Stijn Ghesquiere
Karin Huijsdens-van Amsterdam
Roy Straver
Nicolette den Hollander
Mariette J V Hoffer
Gita M Tan-Sindhunata
Lean Beulen
Shama L Bhola
Lutgarde Govaerts
Heleen Schuring-Blom
Martin G Elferink
Klaske Lichtenbelt
Merryn V Macville
Godelieve C Page-Christiaens
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Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypesQ35936608
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Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case reportQ48004844
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NIPT-based screening for Down syndrome and beyond: what do pregnant women think?Q50596773
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Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicismQ67873137
Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidiesQ86279902
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Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosisQ87450712
P433issue5
P407language of work or nameEnglishQ1860
P304page(s)480-485
P577publication date2017-09-28
P1433published inGenetics in MedicineQ15765508
P1476titleOrigin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
P478volume20

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cites work (P2860)
Q57055693De novo unbalanced translocations have a complex history/aetiology
Q98513871Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations
Q102061414High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening
Q90555311Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy
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Q92483662Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA
Q92011829Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype
Q98778840Prenatal diagnosis of mosaic trisomy 2 and literature review
Q55209454Size-tagged preferred ends in maternal plasma DNA shed light on the production mechanism and show utility in noninvasive prenatal testing.
Q58564726Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Q98946480Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era
Q91130436The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

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