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

Authors :: Lotte Hatt
Ripudaman Singh
Rikke Christensen
Katarina Ravn
Inga B Christensen
Line Dahl Jeppesen
Bolette Hestbek Nicolaisen
Mathias Kølvraa
Palle Schelde
Lotte Andreassen
Richard Farlie
Niels Uldbjerg
Ida Vogel
Source :: Clinical Case Reports, Vol 8, Iss 12, Pp 2561-2567 (2020)
Publication Year :: 2020
Publisher :: Wiley, 2020.
Abstract: Abstract 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.

Subjects :: 3p deletion
3p26 deletion
cell‐based noninvasive prenatal testing
copy number variation
Noninvasive prenatal testing
Prader‐Willi syndrome
Medicine
Medicine (General)
R5-920

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