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

Diane Van Opstal, Merel C. van Maarle, Klaske Lichtenbelt, Marjan M. Weiss, Heleen Schuring-Blom, Shama L. Bhola, Mariette J. V. Hoffer, Karin Huijsdens-van Amsterdam, Merryn V. Macville, Angelique J. A. Kooper, Brigitte H. W. Faas, Lutgarde Govaerts, Gita M. Tan-Sindhunata, Nicolette den Hollander, Ilse Feenstra, Robert-Jan H. Galjaard, Dick Oepkes, Stijn Ghesquiere, Rutger W. W. Brouwer, Lean BeulenSander Bollen, Martin G. Elferink, Roy Straver, Lidewij Henneman, Godelieve C. Page-Christiaens, Erik A. Sistermans, Dutch NIPT Consortium

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)480-485
Number of pages6
JournalGenetics in Medicine
Volume20
Issue number5
DOIs
Publication statusPublished - 1 May 2018

Keywords

  • confined placental mosaicism
  • genome-wide NIPS
  • noninvasive testing
  • prenatal screening
  • trisomy 21
  • CONFINED PLACENTAL MOSAICISM
  • 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

Cite this

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., ... 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, 20(5), 480-485. https://doi.org/10.1038/gim.2017.132