Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
Purpose: Noninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin, frequency, and clinical significance of these other chromosome aberrations found in pregnancies at risk for trisomy 21, 18, or 13. Methods: Whole-genome shallow massively parallel sequencing was used and all autosomes were analyzed. Results: In 78 of 2,527 cases (3.1%) NIPS was indicative of trisomy 21, 18, or 13, and in 41 (1.6%) of other chr... Mehr ...
Verfasser: |
Van Opstal, Diane
van Maarle, Merel C.
Lichtenbelt, Klaske
Weiss, Marjan M.
Schuring-Blom, Heleen
Bhola, Shama L.
Hoffer, Mariette J. V.
Huijsdens-van Amsterdam, Karin
Macville, Merryn V.
Kooper, Angelique J. A.
Faas, Brigitte H. W.
Govaerts, Lutgarde
Tan-Sindhunata, Gita M.
den Hollander, Nicolette
Feenstra, Ilse
Galjaard, Robert-Jan H.
Oepkes, Dick
Ghesquiere, Stijn
Brouwer, Rutger W. W.
Beulen, Lean
Bollen, Sander
Elferink, Martin G.
Straver, Roy
Henneman, Lidewij
Page-Christiaens, Godelieve C.
Sistermans, Erik A. |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2018 |
Reihe/Periodikum: |
Van Opstal , D , van Maarle , M C , Lichtenbelt , K , Weiss , M M , Schuring-Blom , H , Bhola , S L , Hoffer , M J V , Huijsdens-van Amsterdam , K , Macville , M V , Kooper , A J A , Faas , B H W , Govaerts , L , Tan-Sindhunata , G M , den Hollander , N , Feenstra , I , Galjaard , R-J H , Oepkes , D , Ghesquiere , S , Brouwer , R W W , Beulen , L , Bollen , S , Elferink , M G , Straver , R , Henneman , L , Page-Christiaens , G C , Sistermans , E A & Dutch NIPT Consortium 2018 , ' Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study ' , Genetics in Medicine , vol. 20 , no. 5 , pp. 480-485 . https://doi.org/10.1038/gim.2017.132 |
Schlagwörter: |
confined placental mosaicism
/ genome-wide NIPS
/ noninvasive testing
/ prenatal screening
/ trisomy 21
/ CELL-FREE DNA
/ PRENATAL-DIAGNOSIS
/ FOLLOW-UP
/ MATERNAL MALIGNANCIES
/ DUTCH LABORATORIES
/ TERM PLACENTAE
/ CVS MOSAICISM
/ FETAL DNA
/ ANEUPLOIDIES
/ CONFIRMATION
/ ANEUPLOIDY
/ ASSOCIATION
/ Chromosome Disorders/diagnosis
/ Trisomy
/ Humans
/ DNA Copy Number Variations
/ Female
/ Placenta/metabolism
/ Genomics/methods
/ Whole Genome Sequencing
/ Pregnancy
/ Prenatal Diagnosis/methods
/ Genetic Testing/methods
/ Chromosome Aberrations
/ Pregnancy Outcome |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-27052218 |
Datenquelle: |
BASE;
Originalkatalog |
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Link(s) :
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https://cris.maastrichtuniversity.nl/en/publications/c3c3d41f-3b7e-48ef-98ba-6a503cde0dbc |