Open AccessCell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
Author(s) -
Hatt Lotte,
Singh Ripudaman,
Christensen Rikke,
Ravn Katarina,
Christensen Inga B,
Jeppesen Line Dahl,
Nicolaisen Bolette Hestbek,
Kølvraa Mathias,
Schelde Palle,
Andreassen Lotte,
Farlie Richard,
Uldbjerg Niels,
Vogel Ida
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3211
Subject(s) - copy number variation , medicine , prenatal diagnosis , computational biology , genome , genetic testing , copy number analysis , genetics , bioinformatics , fetus , biology , gene , pregnancy
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.