Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting
2019; Wiley; Volume: 39; Issue: 13 Linguagem: Inglês
10.1002/pd.5578
ISSN1097-0223
AutoresOlga Žilina, Kadri Rekker, Lauris Kaplinski, Martin Sauk, Priit Paluoja, Hindrek Teder, Eva‐Liina Ustav, Neeme Tõnisson, Tiia Reimand, Konstantin Ridnõi, Priit Palta, Joris Vermeesch, Kaarel Krjutškov, Ants Kurg, Andres Salumets,
Tópico(s)Genomic variations and chromosomal abnormalities
ResumoThe study aimed to validate a whole-genome sequencing-based NIPT laboratory method and our recently developed NIPTmer aneuploidy detection software with the potential to integrate the pipeline into prenatal clinical care in Estonia.In total, 424 maternal blood samples were included. Analysis pipeline involved cell-free DNA extraction, library preparation and massively parallel sequencing on Illumina platform. Aneuploidies were determined with NIPTmer software, which is based on counting pre-defined per-chromosome sets of unique k-mers from sequencing raw data. SeqFF was implemented to estimate cell-free fetal DNA (cffDNA) fraction.NIPTmer identified correctly all samples of non-mosaic trisomy 21 (T21, 15/15), T18 (9/9), T13 (4/4) and monosomy X (4/4) cases, with the 100% sensitivity. However, one mosaic T18 remained undetected. Six false-positive (FP) results were observed (FP rate of 1.5%, 6/398), including three for T18 (specificity 99.3%) and three for T13 (specificity 99.3%). The level of cffDNA of <4% was estimated in eight samples, including one sample with T13 and T18. Despite low cffDNA level, these two samples were determined as aneuploid.We believe that the developed NIPT method can successfully be used as a universal primary screening test in combination with ultrasound scan for the first trimester fetal examination.
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