TRISOMY test can exclude the presence of fetal chromosome trisomy 21, 18 and 13, which are scientific labels for Down, Patau and Edwards syndrome. When detecting trisomy of chromosome 21, the test achieves sensitivity level exceeding 99% (sensitivity is generally lower when detecting other types of aneuploidy or aberration, depending on the particular aneuploidy or aberration detected). It is a non-invasive, safe and painless method of testing only from the future mother’s blood starting from the 11th week of pregnancy. If requested by the future mother, the test will also predict the sex of the fetus. More information here.
You can ask your gynecologist or clinical geneticist for the test all around Slovakia. After consulting your physician, the nurse will take your blood sample. The sample is then sent to the Central Medirex Laboratory in Bratislava, where it is further processed and analyzed. Detailed information on how the test is performed can be found here.
TRISOMY test is most often performed between the weeks 11 and 22 of pregnancy. The choice of the earliest or latest possible date depends on the preference of the pregnant woman and on the doctor’s recommendation depending on her health condition. In general, however, the test can be performed up until delivery.
Blood sampling is also possible in our sample collection centers of Medirex, however, the test can only be indicated by a specialist, either a gynecologist or a clinical geneticist. You can request an appointment with any specialist on the list of physicians on our website. The list can be found in the section titled Where to take the test.
Yes, the test can only be indicated by a gynecologist or a geneticist who will also collect your blood sample. He/she knows your health condition best and is therefore the ideal specialist to interpret the test results.
The date of receipt of the sample in our laboratory and/or crediting of the account is not included in the 5-day period. This period starts to run on the following working day. Therefore, the laboratory sends the result of the test to your treating physician who indicated the test within 5 working days (applies to more than 90% of all samples). In rare cases, this period may be extended by another 3 working days (applies to less than 10% of all samples) due to technical reasons.
The application requesting the laboratory test, which your physician completed together with you at the time of blood sample collection in the outpatient clinic actually concerns two tests – in addition to TRISOMY test, it is also the BabyGen test. The above option – provision of the results of the analysis over the phone or e-mail – applies to the BabyGen test which is only intended to determine the sex of your future baby. The result of TRISOMY test represents sensitive information regarding your health. In view of this fact, the laboratory respects the legislation and does not notify patients directly of the results of laboratory tests and assessments that include detailed information about a possible medical complications. The results are communicated to the treating physician, who knows your health best and, if necessary, will propose the next steps to be taken in taking care of you and your health, or the health of your fetus. The procedure for communicating the results of TRISOMY test (via the physician) is the same if the test result is positive as well as when it is negative. For more information, click here.
Although the result of the test is produced in the laboratory, it is your treating physician who always interprets the result to you as the patient. The laboratory respects the role of the physician in the process of providing healthcare and therefore does not provide the results of tests directly to patients. The result of your TRISOMY test is usually sent to your treating physician via an electronic system and subsequently in writing.
Once the result of the analysis is determined in the laboratory, the patient is informed by a text message (SMS). The SMS we send indicates that the analysis is complete but does not report the actual result. We send the result to the treating physician who has requested the test to be performed by our laboratory. Please ask your physician for the result of the analysis. He/she knows your health best and, if necessary, he/she will propose further procedures in taking care of you and your health, or the health of your child.
For example, a delay may occur if the test or a part of the analysis needs to be repeated. Reasons may be biological or technical and occur in less than 10% of all samples. More than 90% of the analyses are performed and the results sent via the electronic system to your physician within 5 working days.
We can also test your blood sample after it has been sent by airmail. A special tube and request form is required for sample collection. We can send it to the address you indicate. The prerequisite is the completion and confirmation of the application form with he request (in English) by your gynecologist and the patient’s medical history, as well as the determination of the gestational age of the fetus. The collection should be performed by a woman to avoid possible contamination with male DNA, which may distort the correct determination of the fetal sex. In addition to the price for the test, the price for the transportation of the sample must also be taken into account.
The administration of human immunoglobulins is not known to cause any distortion of the results.
Situations where sampling and analysis have to be repeated are rare, but given the complexity of DNA analysis, this possibility should also be considered. The most common reason for repeated testing is the low proportion of free fetal DNA (called fetal fraction) in the maternal blood sample, which naturally occurs in less than 5% of pregnant women and complicates the analysis. Since it is not possible to draw a reliable conclusion from samples with a low proportion of fetal DNA, in these cases it is necessary to repeat the sample collection and analyze the new sample with approximately 14 days apart. Our clinical experience shows that analyses of samples obtained by repeated collection allow obtaining informative results in 2 out of 3 cases. In such a case, we will inform the treating physician about the need for a new blood sample collection and suggest the patient to contact the clinic and arrange a suitable date for a repeated sampling. Repeated test shall be carried out by the laboratory free of charge.
Since TRISOMY test is a screening test, not a diagnostic one, any positive test result should subsequently be confirmed by genetic assessment of amniotic fluid or chorionic villi. More information can be accessed here.
TRISOMY test is available all over Slovakia. The list of physicians who currently offer this test to their patients is available here. Since the list of physicians is constantly expanding, the website may not provide the complete information. Therefore, we recommend asking your gynecologist or specialist in the field of clinical genetics about the possibilities of our TRISOMY test.
Undergoing a blood transfusion is an important information to us, provided that it was given within 6 months before the sample for TRISOMY test was taken. However, with such a large time interval as you have indicated, there is no need to worry about any influence on the result of the current analysis.
Yes, TRISOMY test is also suitable for multiple pregnancies, but certain limits resulting from the nature of testing should be taken into account. Based on the results of TRISOMY test, we can say whether at least one of the fetuses has one of the monitored chromosomal disorders. However, it is not possible to determine whether one or both fetuses have the disorder. Regarding the fetal sex prediction, in 90% of cases it is possible to determine the sex of both fetuses, in the remaining 10% it is possible to determine whether at least one of the future babies is male or both are female. It is not possible to perform the more advanced versions of the test in dual pregnancies, namely it is not possible to perform TRISOMY test XY, TRISOMY test + or TRISOMY test Complete.