OVERVIEW
WHAT IS VERACITYDuring pregnancy, fetal DNA travels from the placenta to the mother’s blood stream and circulates along with her own DNA. VERACITY is a new generation non-invasive prenatal test that accurately measures the fetal cell-free DNA in the maternal blood to detect the presence of fetal aneuploidies and microdeletions. VERACITY has been validated for both single and twin pregnancies as well as pregnancies conceived through in-vitro fertilization (IVF).
The doctor or lab collects a blood sample from the mother’s arm and sends it to our state-of-the-art laboratories for analysis. At the laboratory, cell-free DNA is isolated from the mother’s blood and analyzed using our proprietary, new generation analytic and bioinformatic technology. Results are provided to your doctor in a few working days.
UNIQUE FEATURES OF VERACITY
VERACITY technology enables chromosomal aneuploidy detection as well as fetal fraction measurement with unparalleled accuracy
Targeted genomic analysis
VERACITY is designed to avoid genomic regions with complex architecture that affect test performance. This increases precision and accuracy.
High-read depth
VERACITY captures DNA fragments from targeted regions on chromosomes of interest and reads these at an extremely high read-depth, improving the statistical accuracy of the analysis and increases the sensitivity and specificity.
Read-depth is the number of times a nucleotide in the genome is read during analysis.
Fetal fraction measurement
A proprietary bioinformatics software accurately calculates fetal fraction which increases the robustness and reliability.
Multi-engine analysis pipelines
Proprietary bioinformatics pipelines analyze the sequencing data produced from each test. This multi-engine analysis increases the sensitivity and specificity of aneuploidy, microdeletion and fetal gender detection.
VERACITY VS CONVENTIONAL PRENATAL TESTS
AUTOSOMAL ANEUPLOIDIES
● Down syndrome (Trisomy 21)
● Edwards syndrome (Trisomy 18)
● Patau syndrome (Trisomy 13)
TYPES OF CONDITIONS DETECTED BY VERACITY
Genetic conditions are caused by unwanted changes in the genome that happen during conception. Three types of genetic conditions are detected in Veracity:
- Autosomal aneuploidies: Genetic conditions that occur in chromosome pairs 1-22. Whole chromosome aneuploidies may refer to cases where chromosomes have an extra copy (trisomy) or a missing copy (monosomy).
- Sex chromosome aneuploidies: Genetic conditions that occur in chromosome pair 23, which defines gender. Women have two X chromosomes while men have one X and one Y chromosome. Sex chromosome aneuploidies occur when there are extra copies of the X or Y chromosome, or a missing copy of the X chromosome.
- Microdeletions: Genetic conditions caused by the loss of a part of a chromosome. Microdeletions are characterized by congenital abnormalities and intellectual impairment. The severity of the symptoms varies depending on the size and location of the microdeletion.
- Single gene disorders: Monogenic, or single gene disorders, are genetic conditions caused by a variant (a version that is different from the standard) in a single gene (single gene diseases). Such conditions can be autosomal dominant which are caused when a variant exists on only one chromosome, or autosomal recessive where a variant needs to be present in both chromosomes. There are also X-linked diseases, where the mutation is always on the X chromosome and affects males and females differently. VERAgene analyzes over 2000 variants to detect 100 autosomal recessive and X-linked monogenic diseases.
| ANEUPLOIDIES | |
| CONDITION | CAUSE |
| Down syndrome (Trisomy 21) | Three copies of chromosome 21 |
| Edwards syndrome (Trisomy 18) | Three copies of chromosome 18 |
| Patau syndrome (Trisomy 13) | Three copies of chromosome 13 |
| Turner syndrome (Monosomy X) | One chromosome X |
| Triple X syndrome (Trisomy X) | Three copies of chromosome X |
| Klinefelter syndrome (XXY) | Extra copy of chromosome X |
| Jacobs syndrome (XYY) | Extra copy of chromosome Y |
| XXYY syndrome | Extra copies of chromosomes X and Y |
| MICRODELETIONS | |
| CONDITION | CAUSE |
| DiGeorge syndrome (22q11.2) | Deletion of part of chromosome 22 |
| 1p36 deletion syndrome | Deletion of part of chromosome 1 |
| Smith-Magenis syndrome (17p11.2) | Deletion of part of chromosome 17 |
| Wolf-Hirschhorn syndrome (4p16.3) | Deletion of part of chromosome 4 |
CLINICAL PERFORMANCE
VERACITY is a new generation non-invasive prenatal test (NIPT) for the detection of fetal chromosomal aneuploidies and microdeletions. It uses proprietary technology based on cutting-edge research and development in molecular genetics and bioinformatics. It was specifically designed to avoid technical limitations and shortcomings of other NIPT.
VERACITY uses novel Targeted Enrichment Technology that enables with unparalleled accuracy chromosomal aneuploidy detection as well as fetal fraction measurement. Targeted regions on selected chromosomes and chromosomal regions are captured, enriched and analysed for the detection of aneuploidies and microdeletions using our proprietary genomic and bioinformatic technologies.
Validation studies have been conducted and are available (see table on the left).
| AUTOSOMAL TRISOMIES | |||||
| KARYOTYPE | NUMBER | FOLLOW-UP | CORRECT | SPECIFICITY | NPV/PPV |
| Normal | 10280 | 10280 | 10280 | 99.98% (99.93-99.998%) | 100% (99.96 – 100%) (NPV) |
| Trisomy 21 | 126 | 44 | 44 | 100% (92 – 100%) | 100% (92 – 100%) (PPV) |
| Trisomy 18 | 24 | 10 | 10 | 100% (69 – 100%) | 100% (69 – 100%) (PPV) |
| Trisomy 13 | 16 | 7 | 5 | 100% (48 – 100%) | 71% (29 – 96%) (PPV) |
Be at least 10 weeks pregnant
Ask your doctor about taking VERACITY
Visit your doctor to have a single blood draw
We will analyze the blood sample in our laboratories
We will send your results to your doctor in 4-7 working days
2x 10 ml blood in BCT cell free DNA tubes
4-7 working days from sample receipt to the laboratory
| Type of Sample | 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 |
| Type of Sample | Number of Samples | Correct Call | Confidence Interval |
| Normal | 73 | 73 (100%) | 95.1 — 100 |
| T21 | 24 | 24 (100%) | 85.8 — 100 |
| Type of Sample | Number of Samples | Correct Call | Confidence Interval |
| Normal | 286 | 286 (100%) | 99.9 — 100 |
| Sex Chromosome Aneuploidies | 14 | 14 (100%) | 93.2 — 100 |
*Our tests can be ordered through our local partners. Please choose one of the locations listed below
