Genetic counselling and tests

Many people seeking genetic counselling are healthy but want more information about individual risks or the effects of genetic testing. The desire for genetic testing, on the other hand, is usually sparked by personal or family health issues that are known or suspected to be hereditary.

Genetic counselling can be integrated into the family planning process even before pregnancy. This can be caused by a variety of issues, such as repeated miscarriages. 

The genetic tests conducted during pregnancy include foetal chromosome and genetic testing based on a placenta or amniotic fluid sample. A foetal chromosome test on maternal blood (NIPT) is also possible. 

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POC (Product of Conception) – chromosome analysis on a miscarriage sample

Miscarriages are common.  Almost every fifth pregnancy ends in miscarriage.  An event such as a miscarriage gives rise to many questions:  Why did it happen? Can it be prevented?  What is the prognosis for the next pregnancy?

Most miscarriages are caused by chromosome aberrations in the embryo.  Even abnormal embryos can attach to the uterus. This starts the pregnancy but the embryo fails to develop, which leads to inevitable miscarriage. Roughly half of all miscarriages are caused by chromosome aberrations in the embryo.

POC is a genetic test that can be conducted on anyone based on a sample of miscarried tissue. All 23 human chromosome pairs are analysed in the sample.  The test is conducted with the NGS (Next Generation Sequencing) method, which is the best and most reliable genetic testing method.

A result is obtained from over 98% of the samples, and the reliability of the result exceeds 99%. In addition to the tissue sample, a blood sample is needed from the person who experienced the miscarriage. This examination is particularly useful in the case of repeated miscarriages or if the pregnancy is interrupted after fertilisation treatments.

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ERA (Endometrial Receptivity Array)

The time at which an embryo can attach to the endometrium is unique for each individual woman. The ERA test analyses the more than 200 genes that determine the optimal time for embryo attachment and transfer.

The ERA test is conducted when frozen embryo transfer is planned. Sometimes the procedure is also performed in conjunction with embryo diagnostics. However, ERA is often necessary if the transfer of several good-quality embryos has failed. In these cases, the personalised time for embryo transfer has led to excellent results, even by international standards.

Based on the ERA test, some 25% of repeatedly fruitless embryo transfers are due to causes related to the uterus. Endometriosis, excess weight and structural abnormalities in the uterus increase the risk of embryo attachment failure.

Based on current research data, the test cannot be recommended to everyone, despite the fact that there have been situations where an unusual attachment window has been found even though a clear reason for the failure of the treatments has already been determined.

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Foetal chromosome test on maternal blood (NIPT)

New method for examining the chromosomes of a foetus. Analysing the mother’s blood sample is safe, reliable and more affordable than traditional test methods. During pregnancy, foetal DNA travels into the mother’s bloodstream.  This means that all chromosomes can be tested from a maternal blood sample.

NIPT (Non-Invasive Prenatal Test) has been used at Dextra Fertility Clinic since the end of 2014.  The results and experiences have been excellent. NIPT is completely safe and the results arrive quickly, approximately within a week, providing 99% reliability.

NIPT significantly reduces the need for sampling the placenta and amniotic fluid, which involves a 0.5–1% risk of infection and miscarriage. NIPT is safe and significantly cheaper than the invasive tests.

The test is conducted on a maternal blood sample. The method identifies the most common chromosome abnormalities: chromosome 21 trisomy (Down’s syndrome), chromosome 18 trisomy (Edwards syndrome) and chromosome 13 trisomy (Patau syndrome)

The test can be performed on anyone after the 10th week of pregnancy. The NIPT method used by Dextra Infertility Clinic is also suitable for twin pregnancies and pregnancies initiated by gamete donation. No referral is needed, and samples are taken on weekdays.

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