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Open AccessCommunication

Result of Prospective Validation of the Trisomy Test® for the Detection of Chromosomal Trisomies

Trisomy Test Ltd., Ilkovičova 8, 841 04 Bratislava, Slovakia
Medirex Inc., Galvaniho 17/C, 821 06 Bratislava, Slovakia
Geneton Ltd., Galvaniho 7, 821 06 Bratislava, Slovakia
Author to whom correspondence should be addressed.
Diagnostics 2019, 9(4), 138;
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 NIPT; Trisomy Test®; low-coverage whole-genome sequencing
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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.

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