Abstract
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.
Highlights
The prevalence of Down syndrome is 1 in 800 live births, 1 in 6000 in case of Edwards syndromeand about 1 in 10,000 newborns suffer from Patau syndrome [1,2]
The discovery of the presence of cell-free fetal DNA in maternal plasma in 1997 by Lo et al [4] and progress in the field of DNA sequencing [5], allowed the development of non-invasive prenatal testing (NIPT) methods that are capable of replacing the standard screening scheme
7279 pregnant plasma samples analyzed between 1 July 2016 and 30 September 2018 were included in our prospective study
Summary
The prevalence of Down syndrome (caused by trisomy of chromosome 21—T21) is 1 in 800 live births, 1 in 6000 in case of Edwards syndrome (caused by trisomy of chromosome 18—T18)and about 1 in 10,000 newborns suffer from Patau syndrome (caused by trisomy of chromosome13—T13) [1,2]. Standard scheme for screening for these trisomies in pregnancy is based on biochemical and ultrasound examinations and reaches detection rate between 50% and 95% with a 5% false positive rate [3]. The discovery of the presence of cell-free fetal DNA in maternal plasma in 1997 by Lo et al [4] and progress in the field of DNA sequencing [5], allowed the development of non-invasive prenatal testing (NIPT) methods that are capable of replacing the standard screening scheme. NIPT screening tests use different approaches for the detection of T21, T18, or T13 trisomies. The most commonly used approaches utilize low-coverage whole-genome sequencing (used by, e.g., NIFTY, Verifi) or quantification of fetal-specific single nucleotides polymorphisms (used by, e.g., Panorama, Harmony) analysis. Based on the review of available studies, NIPT reached a sensitivity of >99%,
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