WHAT IS IT?
The technologically most advanced TRISOMY test to determine the risk of fetal chromosomal disorders at the whole-genome level.
The test detects:
Chromosomal aneuploidies (trisomies, monosomies) of any of the chromosomes.
Sub-chromosomal aberrations (deletions, duplications) with size starting from ≥ 3 megabases (Mb).
TRISOMY TEST COMPLETE
EXCEEDING THE STANDARDS IN NON-INVASIVE PRENATAL SCREENING AND DIAGNOSTICS.
RELIABLE
It uses the technoIogy of low-coverage whole-genome sequencing and a CE-IVD certified bioinformatic software – TRISOMY test SW (Council Directive 98/79/ EC, annex II, the list B) compliant with the EN ISO 13485:2016 standard.
COMPREHENSIVE
The test result contains information about the most probable clinical manifestation of the detected aberration based on a detailed research of the available information from specialized databases (e.g. ClinVar, Decipher, ClinGen) and the available professional publications, which significantly facilitates the interpretation of the finding
and accelerates the follow-up patient management.
NO UNNECESSARY DELAYS
The test is conducted across the whole territory of the Slovak Republic. Apart from the standard NIPT testing, the result is typically available as early as within 5 working days (period can vary based on the country).
WITH VALIDATION
TRISOMY test Complete also features a free validation of the positive finding with a diagnostic test on a sample of amniotic fluid using the GenomeScreen prenatal methodology.
46 CHROMOSOMES
EACH CHROMOSOME IN DETAIL
Commonly accessible NIPT tests will typically detect the selected chromosomal disorders of the fetus (trisomies 21, 18, and 13, aneuploidies of sex chromosomes, selected micro-deletion syndromes).
TRISOMY test Complete offers high precision in detecting aneuploidies and sub-chromosomal disorders of all 46 chromosomes (22 pairs of autosomes, X and Y sex chromosomes).
WHAT WILL TRISOMY test Complete detect?
Aneuploideis of all chromosemes
Along with the most frequent aneuploidies of chromosomes 21, 18, and 13, the test will also detect aneuploidies of other chromosomes that may be linked to fetal damage and other potential complications during pregnancy.1
Disorders of this type often remain undetected as the standard NIPT tests or other methods of prenatal screening are typically unable to detect them.
≥99.93%2Reliability |
Trisomies 21, 18 and 13 |
Sub-chromosomal aberrations of all chromosomes starting with > 3 megabases
In most cases, these are clinically relevant disorders detected across the whole genome of the fetus*, which cannot be detected by any other method of prenatal screening.
Detection limit or possibly length-related limit of the identified chromosomal aberration depends on the fetal fraction determined in the sample – see Table no. 1.
≥80%Reliability |
Deletions Duplications |
1 Pertile, M. D., Halks-Miller, M., Flowers, N., Barbacioru, C., Kinnings, S. L., Vavrek, D., Seltzer W. K., Bianchi, D. W. (2017). Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Science translational medicine, 9(405), eaan1240.
2 Sekelska, M., Izsakova, A., Kubosova, K., Tilandyova, P., Csekes, E., Kuchova, Z., Hyblova, M., Harsanyova, M., Kucharik, M., Budiš, J., Szemes, T., Minarik, G. (2019). Result of Prospective Validation of the Trisomy Test® for the Detection of Chromosomal Trisomies. Diagnostics, 9(4), 138.
*TRISOMY test Complete enables detection of chromosomal disorders at the whole-genome level, which represents the whole uniquele mappable and currently known part of the human genome. The test ist not able to detect chromosomal disorders located in the areas which do not fulfil this condition and make up for approximately 13% of the genome (e.g. some sequence on the centromeres).
THE RESULTS OF THE VALIDATION STUDY
To validate the ability of the test to detect sub-chromosomal aberrations, an internal prospective validation study was conducted on 7 279 samples with various detected and reported chromosomal aberrations with lengths between 1 Mb and 80 Mb, whereas the fetal fraction of the samples with
aberrations was ranging from 5.1% to 19.1%.
Bioinformatic data analysis enabled prediction of the values of the anticipated test sensitivity for various lengths of chromosomal aberrations depending on the fetal fraction in the analysed sample (Fig. 1).
Based on the results of the internal study and statistical analyses, a detection limit was established for the respective chromosomal aberrations with respect to the size of the aberration and the percentage of fetal fraction with sensitivity at ≥ 80 % (Tab. 1)
Fetal
|
Size of
|
5 % — 6 % |
> 8 Mb |
6 % — 7 % |
> 7 Mb |
7 % — 8 % |
> 6 Mb |
8 % — 9 % |
> 5 Mb |
9 % — 10 % |
> 4 Mb |
> 10 % |
> 3 Mb |
Tab. č. 1: Detection limits of the test for chromosomal aberrations depending on the fetal fraction and the size of aberration.
Comparison with conventional tests
PLAN
Number
minutes
Price for 1 minute
Price for 1 minute
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TRISOMY test Complete
- Screening fo all 46
chromosomes of the fetus
- Free validation of a positive
finding using the GenomeScreen
prenatal methodology
- Support of clinical interpretation
of the relevant sub-chromosomal
aberrations including the newly
detected ones
- Results are available
within 5 working days*
- Processing of the sample
is performed by certified
laboratories in Slovakia
STANDARD NIPT testing
- Screening only for the selected
chromosomes
- The price does not
include validation of the finding
by a diagnostic method
- Support of clinical interpretation
is limited to the selected known
aberrations
- Extended deadline
for delivering results
- Processing of the sample
performed abroad
* period can vary based on the country
WHAT IS THE TESTING PROCESS LIKE?
The test:
- Can also be used in pregnancies resulting from the assisted reproduction
techniques (ART) including the cases with donated gametes, - Cannot be used in multiple pregnancies (i.e. those with several fetuses).
1. Blood sampling
Blood samples are taken by a female nurse at your doctor’s office and subsequently sent to the laboratory to be analysed.
2. Payment for TRISOMY test Complete
The price of a TRISOMY test Complete depends on the country specification.
3. Laboratory blood analysis
You will receive text message notifications from the laboratory throughout the whole procedure.
4. Test results
Tesults will be sent to your doctor within 5 working days (period can vary based on the country).
5. Appointment with your doctor
The doctor who suggested the screening test informs the patient about the result of the test. The laboratory cannot provide the results directly to the patient (respecting the doctor’s position as a health care provider).
6. Sampling of amniotic fluid
In the case of a positive result of TRISOMY test Complete, the Laboratory provides verification of the result with the GenomeScreen diagnostic test taken from the amniotic fluid sample.
7. 
The test is indicated by a specialist in medical genetics.
* Following a resolution of the Ethics Committee of the Ministry of Health of the Slovak Republic, the Laboratory provides test results only upon completion of the 12th week of pregnancy.