|
First TrimesterScreening |
|
|---|---|---|
Type of Test
|
Screening that measures the risk of trisomies 21, 18 and 13, X, Y aneuploidies, selected microdeletions, and a panel of 100 monogenic diseases. | Screening test that measures likelihood of trisomies 21, 18, and 13. |
|
Method
|
Genetic analysis of cell-free DNA from mother and DNA from father to determine the fetal risk for the tested conditions. | Biochemical analysis of maternal blood ultrasound, and other parameters (e.g. maternal age) are used to estimate chance of being fetus affected by trisomies. |
Sample
|
Blood sample from biological mother and buccal swab from biological father | Blood sample from mother |
|
Accuracy
|
Higher than 99% for trisomies 21, 18 and 13, sex chromosome aneuploidies and microdeletions. Higher than 99% in detecting monogenic diseases. | 80-95% for trisomy 21, 18 and 13. |
NEW GENERATION NON-INVASIVE PRENATAL TEST (NIPT)
- Can be done from 10 weeks of pregnancy
- Single screening test for aneuploidies, microdeletions and point mutations
- Validated for singleton and twin pregnancies
- Applicable also for IVF pregnancies
VERAgene is the only non-invasive prenatal test that can simultaneously screen for aneuploidies, microdeletions and single gene diseases. The diseases screened by VERAgene are associated with moderate to severe phenotype with significant impact on the quality of life. By combining detection of aneuploidies and microdeletions with the screening of monogenic diseases, VERAgene provides a comprehensive solution to prospective parents.
WHAT IS VERAgene NIPT?
VERAgene is the first comprehensive non-invasive prenatal test (NIPT) that can simultaneously screen for aneuploidies, microdeletions and point mutations. The diseases screened by VERAgene are often severe with significant impact on the quality of life. VERAgene targets over 2,000 mutations to screen for 100 monogenic diseases.
By combining detection of aneuploidies and microdeletions with the screening of monogenic diseases, VERAgene provides a comprehensive picture of the pregnancy using a single test.
ΗOW DOES IT WORK?
VERAgene needs a maternal blood sample, and a buccal swab sample from the biological father. The maternal blood contains cell-free DNA from both the mother and the fetus. This cell-free DNA is isolated and analyzed along with the father’s DNA sample for any potential genetic mutations using next generation sequencing. Sophisticated bioinformatics algorithms are then used to compute the risk of the fetus having a monogenic disease.
The results are sent to the clinician who communicates them to the parents and provides the necessary counseling.
Veragene
Conventional
Prenatal Tests
Prenatal Tests
Cell-free DNA
Cell-free DNA extracted from mother’s blood and paternal DNA sample
Can detect several fetal genetic disorders
Screening combines...
Biochemical Screening Results, Ultrasound Findings and Other Parameters
Biochemical and ultrasound markers don’t exist for microdeletions and monogenic diseases
Highly Accurate
>99% detection rate for aneuploidies
Low Accuracy
80-95% detection rate for aneuploidies
Safe
No risk of fetal miscarriage
Risk
for miscarriage through amniocentesis or
CVS
(0.5%)
Early
Can be done from the 10th week of pregnancy
Screening for aneuploidies after the 12th week of
pregnancy
UNIQUE FEATURES OF VERAgene
VERAgene captures, counts and analyses cfDNA fragments from selected genomic regions using targeted enrichment and next generation sequencing (NGS) with proprietary genetic and analytical tools. The main features of VERAgene are:
TARGETED GENOMIC ANALYSIS
VERAgene uses proprietary technology, specifically designed to avoid genomic regions with complex architecture that affect test performance. This overcomes problems associated with other NIPTs and increases the precision and accuracy of VERAgene.
HIGH READ DEPTH
These fragments are then counted several hundreds of times using NGS to achieve very high statistical accuracy and precision.
ACCURATE FETAL FRACTION
VERAgene uses the high read-depth of maternal and fetal DNA counts from the genome to accurately measure the fetal contribution to the cfDNA. Accurate fetal fraction measurement protects from false results.
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.
WHAT DOES VERAgene SCREEN FOR?
-
ANEUPLOIDIES
Condition Impact Cause Down syndrome (Trisomy 21) severe Three copies of chromosome 21 Edwards syndrome (Trisomy 18) very severe Three copies of chromosome 18 Patau syndrome (Trisomy 13) very severe Three copies of chromosome 13 Turner syndrome (Monosomy X) moderate One chromosome X Triple X syndrome (Trisomy X) mild Three copies of chromosome X Klinefelter syndrome (XXY) mild Extra copy of chromosome X Jacobs syndrome (XYY) mild Extra copy of chromosome Y XXYY syndrome severe Extra copies of chromosomes X and Y -
MICRODELETIONS
Condition Impact Cause DiGeorge syndrome (22q11.2) severe Deletion of part of chromosome 22 1p36 deletion syndrome severe Deletion of part of chromosome 1 Smith-Magenis syndrome (17p11.2) severe Deletion of part of chromosome 17 Wolf-Hirschhorn syndrome (4p16.3) severe Deletion of part of chromosome 4 -
Monogenic Diseases
A complete list of monogenic diseases screened
