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

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

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.

OriginalsprogEngelsk
TidsskriftClinical Case Reports
Antal sider7
ISSN2050-0904
DOI
StatusE-pub ahead of print - 2020

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