NIPT/VERACITY
OVERVIEW
WHAT IS VERACTIY
During 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).
HOW IT WORKS
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 VERACTIY
VERACITY technology enables with unparalleled accuracy chromosomal aneuploidy detection as well as fetal fraction measurement.
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 and reads them
at high read-depth, improving statistical
accuracy and increases sensitivity and specificity.
Fetal fraction measurement
A proprietary bioinformatics software
accurately calculates fetal fraction which
increases the robustness and reliability.
VERACTIY VS CONVENTIONAL PRENATAL TESTS
WHAT DOES VERACTIY TEST FOR?
TYPES OF CONDITIONS DETECTED BY VERACTIY
Genetic conditions are caused by unwanted changes in the genome that happen during conception. Three types of genetic conditions are detected in Veractiy:
- Aneuploidies are genetic conditions that occur when a chromosome has an extra copy (trisomy) or is missing a copy (monosomy)
- Microdeletions are genetic conditions caused by a small deletion in a specific region of a chromosome
- Single gene diseases are genetic conditions caused by mutations in a specific gene
| 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 by NIPD Genetics 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 below).
| 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 | 144 | 45 | 45 | 100% (92 – 100%) | 100% (92 – 100%) (PPV) |
| Trisomy 18 | 30 | 11 | 11 | 100% (69 – 100%) | 100% (69 – 100%) (PPV) |
| Trisomy 13 | 16 | 7 | 5 | 100% (48 – 100%) | 71% (29 – 96%) (PPV) |
| SEX CHROMOSOME ANEUPLOIDIES | |||||
| KARYOTYPE | NUMBER | FOLLOW-UP | CORRECT | SPECIFICITY | NPV/PPV |
| Normal | 6200 | 6200 | 6200 | 99.95% (99.86 – 99.99%) | 100% (99.94 – 100%) (NPV) |
| 45, X | 16 | 7 | 4 | 100% (40-100%) | 57% (18-90%) (PPV) |
| 47, XXX | 6 | 2 | 2 | – | – |
| 47, XXY | 10 | 4 | 4 | – | – |
| 47, XYY | 3 | 0 | – | – | – |
| 48, XXYY | 1 | 1 | 1 | – | – |
HOW CAN I TAKE THE VERACITY TEST?
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
ACCEPTED MATERIAL
2x 10 ml blood in BCT cell free DNA tubes
TURNAROUND TIME
4-7 working days
DEVELOPMENT AND VALIDATION STUDY
| 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 |
INDEPENDENT VALIDATION STUDY
| Type of Sample | Number of Samples | Correct Call | Confidence Interval |
| Normal | 73 | 73 (100%) | 95.1 — 100 |
| T21 | 24 | 24 (100%) | 85.8 — 100 |
SEX CHROMOSOME ANEUPLOIDIES VALIDATION STUDY
| 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 |
