THE FIRST
the only test of its kind available in Slovakia
UNIQUE
it is able to detect chromosomal disorders across the whole genome of the fetus
SAFE
the price of the test includes free, fast, and high-precision validation of a positive finding using a diagnostic method on a sample of amniotic fluid
PLAN
Number
minutes
Price
Price for 1 minute
TRISOMY test
Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Prediction of fetal sex
TRISOMY test XY
Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Prediction of fetal sex
Turner syndrome (45 X)
Klinefelter syndrome (47 XXY)
XYY syndrome (47 XYY)
XXX syndrome (47 XXX)
TRISOMY test +
Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Prediction of fetal sex
Turner syndrome (45 X)
Klinefelter syndrome (47 XXY)
XYY syndrome (47 XYY)
XXX syndrome (47 XXX)
DiGeorge syndrome (22q11)
Prader-Willi and Angelman syndrome (15q11)
Cri-du-chat syndrome (5p15)
1p36 deletion syndrome
Wolf-Hirschhorn syndrome (4p16.3)
TRISOMY test Complete
Screening of all 46 chromosomes of the fetus for detection of:
- changes in the number of whole chromosomes (trisomies, monosomies), sex chromosomes,
- changes in the number of one of the 46 chromosomes (duplications, deletions)
Prediction of fetal sex.
Advantages:
The price of the test includes validation of a positive result using GenomeScreen prenatal, the diagnostic test.
PLAN
Number
minutes
Price
Price for 1 minute
TRISOMY test
Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Prediction of fetal sex
TRISOMY test XY
Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Prediction of fetal sex
Turner syndrome (45 X)
Klinefelter syndrome (47 XXY)
XYY syndrome (47 XYY)
XXX syndrome (47 XXX)
TRISOMY test +
Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Prediction of fetal sex
Turner syndrome (45 X)
Klinefelter syndrome (47 XXY)
XYY syndrome (47 XYY)
XXX syndrome (47 XXX)
DiGeorge syndrome (22q11)
Prader-Willi and Angelman syndrome (15q11)
Cri-du-chat syndrome (5p15)
1p36 deletion syndrome
Wolf-Hirschhorn syndrome (4p16.3)
TRISOMY test Complete
Screening of all 46 chromosomes of the fetus for detection of:
- changes in the number of whole chromosomes (trisomies, monosomies), sex chromosomes,
- changes in the number of one of the 46 chromosomes (duplications, deletions)
Prediction of fetal sex.
Advantages:
The price of the test includes validation of a positive result using GenomeScreen prenatal, the diagnostic test.
TRISOMY TEST COMPLETE: FOR WHOM IS IT SUITABLE?
The test can be taken by any pregnant woman after completing the 10th week of pregnancy, who:
- wishes to obtain as much information as possible about the health of the fetus;
- intends to rule out reliably any potential chromosomal disorder of the fetus;
- became pregnant after an IVF treatment;
- had a positive result of biochemical screening, or possibly a sonography examination and this needs to be validated by another test (amniocentesis);
- has had a fetus with a proven chromosomal disorder in the past;
- was diagnosed (or her partner) with the so-called Robertson translocation (an increased risk of trisomy 13 or 21 of the fetus);
- has had repeated miscarriages.
The test:
- can be performed in pregnancies using assisted reproduction techniques including the cases with donated gametes (egg in women or sperm in men),
- cannot be used in multiple pregnancies (i.e. pregnancy with more than one fetus).
It is advisable to consider taking TRISOMY test Complete also in cases of gynecological-obstetric contraindications** which may cause complications during invasive prenatal testing (amniocentesis).
** You should consult any gynecological-obstetric contraindications with your gynecologist–obstetrician.
TRISOMY test Complete
The first non-invasive prenatal test (NIPT) available in Slovakia which delivers high precision in detecting most chromosomal disorders on all 46 chromosomes of the fetus (22 pairs of chromosomes and sex chromosomes X and Y).
The test focuses on disorders of any of the chromosomes in the extent enabled by the determined detection parameters. The result of the test offers very high precision.
EACH CHROMOSOME IN DETAIL
A healthy human cell comprises 46 chromosomes. A disorder of any of them can severely affect fetal development. Standard available NIPT tests most often analyze disorders of 3 to 5 selected chromosomes (21, 18, 13, X, and Y).
In this respect, Trisomy test Complete is unique. Thanks to a detailed analysis of fetal DNA, it is able to detect disorders on all 46 chromosomes.
WHAT CAN IT DETECT?
≥99,93%1Reliability |
Trisomies 21, 18 and 13 |
CHANGES IN THE NUMBER OF ANY OF THE 46 CHROMOSOMES
Trisomy and monosomy represent the most frequent changes in the number of chromosomes. A trisomy develops when there occurs one extra chromosome. Monosomy, on the other hand, develops when a single chromosome is missing. Besides the most frequent trisomies of chromosomes 21, 18, and 13, TRISOMY test Complete also detects rare changes in the number of any of the chromosomes, including sex chromosomes. These changes may be associated with potential complications during pregnancy. Disorders of this type often remain undetected, since standard NIPT tests or other methods of prenatal screening are typically unable to detect them.
≥80%2Reliability |
Deletions Duplications |
MISSING OR EXTRA PARTS OF CHROMOSOMES
In cases when there is an extra part of a chromosome present in the cell nucleus, we are looking at a duplication. If, on the other hand, a part of any chromosome is missing we are talking about a case of deletion. The test can detect deletions and duplications which are typically associated with clinically relevant fetal disorders. They cannot be detected by other methods of prenatal screening.
1Sekelska, 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.
2Sekelská M., Izsáková A., Kubošová K., a kol., Detection and validation of subchromosomal aberrations detected as additional findings in routine noninvasive prenatal testing for common trisomies, Newslab, 2019; roč. 10 (2): 69 – 71
Comparison with conventional tests
PLAN
Number
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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
POSITIVE RESULTS VALIDATED THROUGH A DIAGNOSTIC METHOD
Every positive NIPT finding needs to be validated with a genetic test on a sample of amniotic fluid obtained by amniocentesis and this also applies to TRISOMY test Complete.
TRISOMY test Complete therefore includes a free validation of a positive result by the most detailed available diagnostic method – GenomeScreen prenatal.
- Based on massive parallel low-coverage whole-genome sequencing using the NGS (Next Generation Sequencing) technology.
- It delivers a very high level of detection ability thanks to analyzing 100% of the genetic material obtained in a specimen of amniotic fluid.
- It delivers several times higher resolution when compared to the conventional diagnostic method (karyotype).
THE TESTING PROCESS
The testing process is similar to other alternatives of TRISOMY test with the important difference, which is the validation of any positive results with GenomeScreen prenatal, the diagnostic test.
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.
WHERE CAN I GET TESTED?
Mothers-to-be are referred for the test by a gynecologist or a specialist in medical genetics. Click HERE to view a list of physicians offering TRISOMY tests screening.