RT Journal Article
SR Electronic
T1 Creating basis for introducing NIPT in the Estonian public health setting
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 431924
DO 10.1101/431924
A1 Olga Žilina
A1 Kadri Rekker
A1 Lauris Kaplinski
A1 Martin Sauk
A1 Priit Paluoja
A1 Hindrek Teder
A1 Eva-Liina Ustav
A1 Neeme Tõnisson
A1 Konstantin Ridnõi
A1 Priit Palta
A1 Kaarel Krjutškov
A1 Ants Kurg
A1 Andres Salumets
YR 2018
UL http://biorxiv.org/content/early/2018/10/03/431924.abstract
AB Objective The study aimed to validate a whole-genome sequencing-based NIPT method and our newly developed NIPTmer analysis software with the potential to integrate the pipeline into prenatal clinical care in Estonia.Method In total, 447 maternal blood samples were included to the study. Analysis pipeline involved whole-genome library preparation and massively parallel sequencing on Illumina NextSeq 500. Aneuploidy status was determined with NIPTmer software, which is based on counting pre-defined per-chromosome sets of unique k-mers from raw sequencing data. To estimate fetal fraction (FF) from total cell-free DNA SeqFF was implemented.Results NIPTmer software allowed to identify correctly all samples of non-mosaic T21 (15/15), T18 (9/9) and T13 (4/4) cases. However, one mosaic T18 remained undetected. Six false positive results were observed, including three for T18 (specificity 99.3%) and three for T13 (specificity 99.3%). FF < 4% (2.8-3.99%) was estimated in eight samples, including two samples with T13 and T18. Despite low FF, these two samples were determined as aneuploid with NIPTmer software.Conclusion Our NIPT analysis pipeline proved to perform efficiently in detecting common fetal aneuploidies T21, T18 and T13 and is feasible for implementation into clinical service in Estonia.