Support with genetic questions

The TFP fertility clinics accompany you on the way to genetic analysis. You will receive information about medical connections of congenital, genetic diseases or disabilities as well as help in making individual decisions taking into account your personal or family situation. In particular, we provide assistance with basic genetic diagnosis and establish contact with local specialists and institutes for human genetics, who can collect all details on findings and family history and explain their respective significance to the couples. 

Our experts at the TFP fertility clinics will be happy to inform you about the possibilities of the so-called "basic genetic assessment" and - after detailed consultation with specialists in human genetics - about any indicated pre-implantation diagnostic measures on the basis of the genetic findings.

Experts for Pre-implantation Diagnostics

It is our goal at the TFP fertility clinics to accompany you as best as possible in your desire to have a child and to familiarise you with the individual opportunities and risks of diagnostics at eye level. Our experts are highly qualified and have the diploma in genetics of the Austrian Medical Association (ÖÄK). Their professional competence and many years of experience in IVF treatment make it possible, in the case of conspicuous genetic findings, to professionally technically implement the pre-implantation diagnostics indicated on a case-by-case basis after detailed human genetic consultation with the appropriate specialists in human genetics.

What are the genetic causes of embryonic malformations?

The most common genetic cause of embryonic maldevelopment is chromosomal maldistribution or excess chromosomes (e.g. in trisomy 21). One parent seldom has a chromosome translocation (reversed sets of chromosomes). In a balanced chromosome translocation, the parent itself is completely healthy. However, the anomaly can lead to the combination of chromosomes that do not match when an egg cell is fertilised.

The result is an unbalanced translocation, which is very likely to impair the development of the embryo. In principle, the causes of undesirable developments - as well as the causes of fertility disorders - are very complex: there is not always only one single reason. This is why we offer you in the fertility clinics, in cooperation with competent institutes and specialists in human genetics, detailed diagnostics and advice to increase the chances of having your own child.

Possibilities of genetic examination in the TFP fertility clinics

The usual non-invasive methods of prenatal examination - such as organ screening and neck wrinkle transparency measurement - are only performed during pregnancy. An abortion at this time is usually a great psychological burden for the parents. Invasive methods such as amniocentesis are only partially reliable and also entail a risk for the foetus, albeit a very small one. 

The pre-implantation diagnosis in combination with IVF allows a genetic examination of the embryo even before the transfer into the uterus. At the TFP fertility clinics we carry out the following pre-implant:

• Polar Body Diagnostics (PKD)

• Trophectodermbiopsy (TOBI)

Pre-implantation Diagnostics (PID): legal framework in Austria

According to the Austrian Reproductive Medicine Act of 2015, PGD is only permitted under certain conditions.

• One couple has had at least three unsuccessful embryo transfers and there is reason to believe that this has a genetic cause. In this case, the embryo may be examined for possible chromosomal distribution disorders. This procedure is called PGS (Pre-implantation Genetic Screening) or PGT-A (PGS = PGT-A (Pre-implantation Genetic Testing for Aneuploidy - abnormal number of chromosomes).

  
  

• A woman can detect at least three miscarriages or stillbirths, the cause of which is highly probable in the genetic disposition of the child. In this case, the embryo can also be examined for possible chromosomal distribution disorders. This procedure is called PGS (Pre-implantation Genetic Screening) or PGT-A (PGS = PGT-A (Pre-implantation Genetic Testing for Aneuploidy - abnormal number of chromosomes).

  
  

• The genetic disposition of at least one parent increases the risk of miscarriage, stillbirth or genetic disease in the child. These are mostly "monogenic diseases", i.e. diseases in which ONE particular gene is responsible for a particular disease. The best-known example here is cystic fibrosis or cystic fibrosis. If both parents are healthy, but "carriers" for a mutation, it is possible that children of both parents will inherit the mutation and thus be ill. This testing is called PGD (Pre-implantation Genetic Diagnostic or PGT-M Pre-implantation Genetic tTesting for Monogenic/single gene diseases).

  
  

• A further cause can be structural genetic characteristics of a parent (e.g. translocations), which can be passed on to the child "dysbalanced" and can lead to diseases of the child. This diagnosis is called PGT-SR (Pre-implantation Genetic Diagnosis of Structural Rearrangements).

At eye level: counselling in the TFP fertility clinics

Genetic disorders often impair fertility. If a pregnancy nevertheless occurs, the child may develop illnesses that lead to considerable restrictions in physical and mental health. We see it as our task in the TFP fertility clinics to provide affected couples with honest and comprehensive information about problems and risks and, if necessary, to support them in making individual decisions.

Each couple comes to our clinics with their own values and convictions. Respect for individual values, including religious attitudes and the psychosocial situation of those seeking advice, is of particular importance to us.  We take this into account in our support as well as the individual psychosocial background of our patients. It goes without saying that we strictly adhere to the guidelines of the Austrian FMedRÄG 2015 (Reproductive Medicine Law Amendment Act 2015) when accompanying our couples.  

Would you like to make an appointment for an initial consultation or a consultation on a specific topic? Contact us directly - our experts at the TFP fertility clinics will be happy to take the time for you.