2. Blood sampling
TRISOMY test can only be performed from the 11th week of pregnancy onwards* and blood samples are collected on an empty stomach. Foetal DNA circulates in maternal blood as early as in the first trimester of pregnancy. This foetal DNA can be isolated using a special laboratory procedure based on a 10ml sample of maternal blood. Blood samples are taken by a female nurse at the doctor’s office, whereupon they are sent to the laboratory to be processed and prepared for analysis.
TRISOMY tests are mostly performed between the 11th and the 22nd week of pregnancy. Choosing the earliest/latest date possible is a decision that generally depends on the pregnant woman’s preference and her physician’s recommendation based on the patient’s health condition.
* In compliance with a resolution adopted by the Ethics Committee of the Slovak Ministry of Health, our laboratory only provides test results to patients once they have completed their 12th week of pregnancy. The test result is disclosed and interpreted to the patient by the doctor who referred the patient for the test.
4. Laboratory blood analysis
As soon as the patient’s payment has been identified, the patient’s blood sample is analysed using a special method.
The laboratory will send the result to your doctor within 5 working days upon receipt of the payment.
1. Blood sample processing
Blood contains a liquid component (plasma, which is yellow) and blood corpuscles (white blood cells, red blood cells and platelets). TRISOMY test is based on analyzing blood plasma, which is separated from blood corpuscles under laboratory conditions.
2. Plasma cleaning
Free circulating DNA is obtained from plasma samples using a multi-step cleaning procedure – including the DNA that comes from the foetus. Undesirable proteins and other chemical substances are all removed in the process.
3. Preparing DNA samples for analysis
For the purposes of the test, the isolated DNA has to be prepared using a special laboratory process that is called “sequencing library preparation”. This procedure takes about 2 days and involves DNA replication because our experts need a much larger quantity of DNA material compared to what they are able to recover from maternal plasma samples.
4. Sample quality control
TRISOMY test is a costly and time-consuming test whose outcome depends on the quality of the prepared samples for analysis. To make sure it was well-prepared in the laboratory, the “sequencing library” must be checked using special equipment before it is subjected to sequencing analysis.
5. Final analysis – sequencing
If the prepared sample has passed the quality control test, it is ready for sequencing analysis. By reading 30 million fragments over a period of 20 hours, the laboratory staff see if the given foetus is affected by any of the monitored trisomy types.
6. Test outcome
Test results are sent from the laboratory directly to the physician who referred the patient for the test in the first place. Respecting the doctor’s position as a health care provider, the laboratory will not provide any test results directly to the patient.
5. Delivery of test results
(within 5 working days upon receipt of the payment)
The mother-to-be will receive a text message as soon as the sample is delivered to the laboratory, when her payment is cleared, and also when the analysis itself has been completed.
6. Interpretation of test results
Test results can only be provided to the patient via the doctor who referred them for the screening test. The laboratory cannot provide any test results directly to the patient (respecting the doctor’s position as a health care provider).
Patients’ and Doctors’ Views
I have always wanted to be a mother, but I only managed to get pregnant when I was 37 thanks to IVF. Since this was going to be my first and probably the only child, I made absolutely sure everything was going to be perfect. I found amniocentesis risky, and when I found out about TRISOMY test, I did not hesitate. It is so simple and painless - and the reassurance is priceless.