Result of Prospective Validation of the Trisomy Test® for the Detection of Chromosomal Trisomies
by
Martina Sekelska 1,2,*, Anita Izsakova 1,2, Katarina Kubosova 1,2, Petra Tilandyova 1,2, Erika Csekes 1,2, Zaneta Kuchova 1,2, Michaela Hyblova 1,2, Maria Harsanyova 3, Marcel Kucharik 3, Jaroslav Budis 3
, Tomas Szemes 3 and Gabriel Minarik 1,2
Martina Sekelska 1,2,*, Anita Izsakova 1,2, Katarina Kubosova 1,2, Petra Tilandyova 1,2, Erika Csekes 1,2, Zaneta Kuchova 1,2, Michaela Hyblova 1,2, Maria Harsanyova 3, Marcel Kucharik 3, Jaroslav Budis 3, Tomas Szemes 3 and Gabriel Minarik 1,2
1
Trisomy Test Ltd., Ilkovičova 8, 841 04 Bratislava, Slovakia
2
Medirex Inc., Galvaniho 17/C, 821 06 Bratislava, Slovakia
3
Geneton Ltd., Galvaniho 7, 821 06 Bratislava, Slovakia
*
Author to whom correspondence should be addressed.
Diagnostics 2019, 9(4), 138; https://doi.org/10.3390/diagnostics9040138
Received: 4 July 2019 / Revised: 26 September 2019 / Accepted: 27 September 2019 / Published: 2 October 2019
(This article belongs to the Section Pathology and Molecular Diagnostics)
Noninvasive prenatal testing (NIPT) is one of the most common prenatal screening tests used worldwide. Trisomy Test® belongs to NIPT tests based on low-coverage whole-genome sequencing. In our prospective study, 7279 samples of pregnant women collected during approximately two years were analyzed. In this cohort, 117 positive cases for trisomies 21, 18, and 13 were reported. An in-house designed bioinformatic pipeline and proprietary biostatistical approach was used for the detection of trisomies. The pooled sensitivity and specificity of our test reached 99.12% and 99.94%, respectively. The proportion of repeatedly uninformative results after repeated blood draws was 1.11%. Based on the presented results, we can confirm that the Trisomy Test® is fully comparable with other commercial NIPT tests available worldwide.
View Full-Text
Keywords:
NIPT; Trisomy Test®; low-coverage whole-genome sequencing
▼
Show Figures
Figure 1
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
MDPI and ACS Style
Sekelska, M.; Izsakova, A.; Kubosova, K.; Tilandyova, P.; Csekes, E.; Kuchova, Z.; Hyblova, M.; Harsanyova, M.; Kucharik, M.; Budis, J.; Szemes, T.; Minarik, G. Result of Prospective Validation of the Trisomy Test® for the Detection of Chromosomal Trisomies. Diagnostics 2019, 9, 138.
Show more citation formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.
