What is VERACITY?
VERACITY is a new generation non-invasive prenatal test for the detection of fetal chromosomal aneuploidies and microdeletions applicable to single and twin pregnancies. It uses proprietary technology based on cutting-edge research and development in Molecular Genetics and Diagnostics. It was designed by NIPD Genetics to avoid the shortcomings of other NIPT technologies.
VERACITY has been developed by a scientific team with over 25 years of experience in the field of prenatal diagnosis, molecular medicine, genomics, trascriptomics, methylomics and bioinformatics .
VERACITY uses novel Targeted Enrichment Technology that enables superior aneuploidy detection and unparalleled accuracy in fetal fraction measurement. Targeted regions on selected chromosomes are captured, enriched and analysed for aneuploidies and microdeletions using our proprietary genomic and bioinformatic technologies (Koumbaris et al. Clinical Chemistry, 62:6, 848-855, 2016).
Targeted Genomic Analysis
VERACITY uses proprietary target capture sequences (TACS) designed to avoid copy number variants (CNVs), repetitive DNA elements, and complex genomic architecture. This targeted approach overcomes problems associated with other NIPTs and increases the precision and accuracy of VERACITY.
High Read Depth
Read-depth is the number of times a nucelotide in the genome is read during analysis. VERACITY captures DNA fragments only from targeted regions on chromosomes of interest. So, it is able to read these selected regions at an extremely high read-depth which improves the statistical accuracy of the analysis and increases the sensitivity and specificity of VERACITY.
Fetal Fraction Measurement
VERACITY uses informative loci to reliably distinguish fetal cfDNA from maternal cfDNA. A proprietary bioinformatics software uses the high read depth counts of these informative loci to accurately calculate the fetal fraction. Accurate fetal fraction measurements raise the robustness and reliability of VERACITY.
Comparison of prenatal testing methodologies
| VERACITY | First Trimester Screening | Invasive Prenatal Diagnosis | |
| Type of Test | Screening that measures likelihood of trisomies 21, 18 and 13, and X, Y aneuploidies, and four microdeletions. | Screening test that measures likelihood of trisomies 21, 18, and 13. | Diagnostic test to determine chromosome abnormalities. |
| Testing Method | Blood draw from 10th week of pregnancy. | Blood draw and ultrasound between 11th and 14th weeks of pregnancy | CVS: Chorionic villus sampling between 10th and 12th weeks of pregnancy. Amniocentesis: Sampling of amniotic fluid using a needle through the abdomen between 15th and 20th weeks of pregnancy. |
| Testing Risks | Safe. No risks to mother or child. | Safe. No risks to mother or child. | About 0.5% risk of fetal loss because of inherent invasiveness of the procedure used to obtain fetal material. |
| Testing Accuracy | Higher than 99% for trisomy 21, 18 and 13. | 80-95% for trisomy 21, 18 and 13. | Higher than 99% for trisomy 21, 18 and 13. |
Validation studies
Development and Validation Study1
| Number of Samples | Correct Call | Confidence Interval | |
| Normal | 538 | 538 (100%) | 99.9 — 100 |
| T21 | 52 | 52 (100%) | 93.2 — 100 |
| T18 | 16 | 16 (100%) | 79.4 — 100 |
| T13 | 5 | 5 (100%) | 47.8 — 100 |
| Male | 244 | 244 (100%) | 99.9 — 100 |
Development and Validation Study2
| Number of Samples | Correct Call | Confidence Interval | |
| Normal | 73 | 73 (100%) | 95.1 - 100 |
| T21 | 24 | 24 (100%) | 85.8 - 100 |
Development and Validation Study3
| Number of Samples | Correct Call | Confidence Interval | |
| Normal | 286 | 286 (100%) | 99.9 — 100 |
| Sex Chromosome Aneuploidies | 14 | 14 (100%) | 93.2 — 100 |
1. Koumbaris G, Kypri E, Tsangaras K, Achilleos A, Mina P, Neofytou M, Velissariou V, Christopoulou G, Kallikas I, González-Liñán A, Benusiene E, Latos-Bielenska A, Marek P, Santana A, Nagy N, Széll M, Laudanski P, Papageorgiou EA, Ioannides M, Patsalis PC. Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex. Clinical Chemistry 62:6, 848-855, 2016
2. Manuscript in preparation.
3. Manuscript in preparation.