Creating basis for introducing non-invasive prenatal testing in the Estonian public health setting.
Prenat Diagn
; 39(13): 1262-1268, 2019 12.
Article
in De
| MEDLINE
| ID: mdl-31691324
ABSTRACT
OBJECTIVE:
The 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.METHOD:
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.RESULTS:
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.CONCLUSION:
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Sex Chromosome Aberrations
/
Software
/
Noninvasive Prenatal Testing
/
Aneuploidy
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Europa
Language:
De
Journal:
Prenat Diagn
Year:
2019
Type:
Article
Affiliation country:
Estonia