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Can I perform the SANCO Test if my pregnancy was twin, but one of the fetuses has died?

In most cases, yes. The condition is death of the fetus (stopping of the fetal development) no later than in the 8th week of pregnancy. Genomed laboratory recommends performing the SANCO Test not earlier than 8 weeks after stating the death. If this recommendation is not followed, the test result, especially an unfavourable (positive) one, may be due to the presence of a dead twin DNA in the mather’s blood.

Is there a risk that the SANCO Test will have to be repeated?

Yes. Sometimes the SANCO Test needs to be repeated or it is even impossible to perform. Repeated blood collection does not involve an additional fee. If the laboratory states, that it is not possible to obtain a result, the patient receives a refund for the test. The failure of the SANCO test occurs least frequently in comparison to other NIPT tests, because only a little amount of fetal DNA (even only 1%) is needed to perform the test.

What is the difference between a non-invasive SANCO prenatal test and biochemical tests performed on mather’s blood?

Biochemical tests determine the level of biochemical markers such as pregnancy-associated plasma protein-A (PAPP-A) or the The β-subunit of hCG gonadotropin (beta-hCG) of the mother - not of the fetus. Their levels, together with the ultrasound result and other parameters (eg. age of the mother), are converted into the risk of trisomy with the use of a special software. The SANCO Test is about isolating the DNA of a child in the mother's blood (mainly from placental cells), and then analysing the DNA using new generation sequencing techniques and "measuring" its amount, which, in case of a trisomy, will exceed the assumed standard levels.

Are there any contraindications to perform the SANCO prenatal test in parallel with another testing in the first trimester of pregnancy?

There are no contraindications for SANCO to be performed before or after the first trimester ultrasound. However, we recommend to do the ultrasound of the first trimester, regardless of the performance and the SANCO Test result.

What to do if the SANCO Test result is inconsistent with the results of the first trimester combined (PAPP-A) test?

The SANCO test is very sensitive (over 99%) with a false positive rate of <0.1%. In the case of increased or intermediate risk of the first trimester combined (PAPP-A) test, a NIPT type test, such as SANCO, is a good solution - it enables rational management of further proceeding due to greater accuracy. Only if the risk specified in the PAPP-A test is very high, the negative SANCO test result may not resolve all doubts about the genetic health of the fetus.

My SANCO Test result is ok (“negative”), can I be sure that the child is healthy?

The SANCO Test is used to assess the risk of trisomy 21, 18 and 13, and it can also detect other genetic defects associated with the changed amount of fetal DNA. The low risk of trisomies in the SANCO Test excludes their occurrence with a very high, though not 100%, probability. There is always a small risk of a false negative result and the risk of other genetic diseases or congenital defects.

Is the SANCO Test result interpreted as a risk of trisomy or does it give a definitive answer YES or NO?

The SANCO Test is a very accurate screening test for determining the risk of trisomy, but it can not be a definitive clinical diagnosis. In a result of the SANCO Test, in addition to negative/positive result information, there is a low / high risk of trisomy comment. In the further part of the result there is an information about the fetal fraction and tips on how to proceed. The test result is signed by a diagnostician and is a full-fledged result of a genetic test, but the non-invasive nature of the SANCO method, makes it a screening test that only determines the risk of disease.

What does the term "false positive result" mean?

The false positive result of the SANCO Test is the "high risk of trisomy" result, whereas after invasive tests, it turns out that the child is not affected by trisomy. In SANCO, we experience such cases in less than 0.1% of the test results. A false positive result may be due to biological factors such as placental mosaicism or maternal chromosome abnormalities.
A certain level of incorrect results is included in the nature of a screening test. The method of performing the test itself causes that, although very accurate, it can not be 100% reliable. Therefore, Genomed supports further diagnostics in every case of unfavorable (positive) result and examines the reasons for possible incompatibility of SANCO results with the actual condition of the fetus. However, neither a false positive nor a false negative result automatically lead to paid out compensation.

What does the term "false negative result" mean?

A false negative test result is when the test determines the risk of fetal trisomy as "low", while the baby is born with trisomy. False negative results may be caused by biological factors such as: placental and/or fetal mosaicism, vanishing twin syndrome or maternal chromosome abnormalities or other mother’s diseases. It may also result from the inherent imperfection of non-invasive testing, being a screening and not a diagnostic method.

Will I obtain my result via e-mail?

 This is not recommended by the Genomed laboratory. Genomed enters all the results in a special on-line platform and local SANCO providers have access to it. However, if you choose this option during the SANCO consultation, your result can be encrypted and sent by e-mail.