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

Lotte Hatt1, Ripudaman Singh1, Rikke Christensen2

  • 1ARCEDI Biotech ApS Vejle Denmark.

Clinical Case Reports
|December 28, 2020
PubMed
Summary

Cell-based noninvasive prenatal testing (cbNIPT) successfully identified pathogenic copy number variations (CNVs) in fetal DNA. This method shows promise as a superior noninvasive approach for detecting smaller CNVs.

Keywords:
3p deletion3p26 deletionNoninvasive prenatal testingPrader‐Willi syndromecell‐based noninvasive prenatal testingcopy number variation

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