@article{892f5933b65941bc9aa8ba39e22f8a82,
title = "Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations",
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.",
keywords = "3p deletion, 3p26 deletion, cell-based noninvasive prenatal testing, copy number variation, Noninvasive prenatal testing, Prader-Willi syndrome, PRADER-WILLI-SYNDROME, DIAGNOSIS, DNA",
author = "Lotte Hatt and Ripudaman Singh and Rikke Christensen and Katarina Ravn and Christensen, {Inga B.} and Jeppesen, {Line Dahl} and Nicolaisen, {Bolette Hestbek} and Mathias Kolvraa and Palle Schelde and Lotte Andreassen and Richard Farlie and Niels Uldbjerg and Ida Vogel",
year = "2020",
month = dec,
doi = "10.1002/ccr3.3211",
language = "English",
volume = "8",
pages = "2561--2567",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "John Wiley and Sons Ltd",
number = "12",
}