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Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

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DOI

  • Lotte Hatt, ARCEDI Biotech ApS
    • ,
  • Ripudaman Singh, ARCEDI Biotech ApS
    • ,
  • Rikke Christensen
  • Katarina Ravn, ARCEDI Biotech ApS
    • ,
  • Inga B. Christensen, ARCEDI Biotech ApS
    • ,
  • Line Dahl Jeppesen
  • Bolette Hestbek Nicolaisen, ARCEDI Biotech ApS
    • ,
  • Mathias Kolvraa, ARCEDI Biotech ApS
    • ,
  • Palle Schelde, ARCEDI Biotech ApS
    • ,
  • Lotte Andreassen, Aarhus Univ Hosp, Aarhus University, Dept Clin Genet, Ctr Fetal Diagnost
    • ,
  • Richard Farlie
    • ,
  • Niels Uldbjerg
  • Ida Vogel

In two cases, cell-based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.

Original languageEnglish
JournalClinical Case Reports
Volume8
Issue12
Pages (from-to)2561-2567
Number of pages7
ISSN2050-0904
DOIs
Publication statusPublished - Dec 2020

    Research areas

  • 3p deletion, 3p26 deletion, cell-based noninvasive prenatal testing, copy number variation, Noninvasive prenatal testing, Prader-Willi syndrome, PRADER-WILLI-SYNDROME, DIAGNOSIS, DNA

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