Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Foetal sex determination
Sex chromosome abnormalities
Turner syndrome (45,X)
Klinefelter syndrome (47,XXY)
XYY syndrome (47,XYY)
XXX syndrome (47,XXX)
DiGeorge syndrome (22q11)
Prader-Willi syndrome and Angelman syndrome (15q11)
Cri-du-chat syndrome (5p15)
1p36 deletion syndrome
Wolf-Hirschhorn syndrome (4p16.3)
* If a blood sample cannot be processed by the laboratory in accordance with the principles of good laboratory practice, or if the analytical results do not provide an answer to the diagnostic question, the laboratory offers a repeat examination based on the same blood sample free of charge. Under the circumstances, the period for the delivery of test results will change from 5 to 8 days (this generally applies to about 10% of all samples).
Due to biological and technological limitations, the accuracy rate related to microdeletion syndromes is lower compared to trisomy 21, 18, and 13. Given the generally low occurrence of microdeletions in the population, there are no studies that would sufficiently validate the actual accuracy of TRISOMY test with regard to these syndromes.
WHO IS TRISOMY TEST + SUITABLE FOR?
TRISOMY test + is designed for pregnant women upon request and following a genetic consultation. It is particularly suitable:
- when the mother-to-be has previously been diagnosed with one of the fetal chromosome disorders targeted by TRISOMY test +;
- for pregnant women with an increased risk of potential fetal disability caused by one of the syndromes targeted by TRISOMY test +, e.g. based on ultrasound screening results;
- for enhancing the accuracy of standard TRISOMY test screening (e.g. to detect smaller-scale chromosome aberrations on top of the standard chromosome 21, 18 and 13 syndromes);
- for detecting trisomy, monosomy, and other, small-scale aberrations associated with chromosomes other than those targeted by standard TRISOMY test screening;
- for pregnant women who want to avoid amniocentesis or suffer from complications that might increase amniocentesis-related risks, such as a higher risk of spontaneous miscarriage, lower blood coagulation, immunisation risks due to Rh incompatibility (negative Rh factor), the period between the 14th and the 16th weeks of pregnancy, uterus myoma, or placenta praevia.
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 +
The price of a TRISOMY test + 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
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).
5. Appointment with your doctor
Your test results will be disclosed and interpreted to you by your doctor, but only upon completion of the 12th week of your pregnancy*. The laboratory cannot provide test results directly to pregnant women.
* 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.