Genetics

Chromosomal health is a crucial prerequisite for a healthy child. A healthy cell consists of 46 chromosomes, which contain the complete genetic information. In rare cases, disorders in the genetic make-up can occur.

During the genetic counselling with our consultant geneticist OÄ Dr. Katharina Rötzer, a detailed personal and family history is taken, including a family tree analysis over three generations. In order to prepare for this consultation in the best possible way, please send all the necessary information and findings to Dr. Rötzer in advance.

Costs: A first genetic consultation costs 280 euros per couple. If a genetic analysis (e.g. chromosome analysis/karyogram, but also other genetic analyses) is recommended in your case, the health insurance will cover the costs for this in most cases. Dr. Rötzer will be happy to discuss any further costs with you.

Do you still have questions or would you like an appointment for a personal consulation?

OÄ Dr. Katharina Rötzer, PhD

Specialist in medical genetics
General practitioner

office@genetischeberatung.at

 

Genetic counselling and, if necessary, diagnostics make sense if:

  • no exact cause has yet been found for your infertility.
  • the maternal age is 35 years or more.
  • there are abnormal hormone findings in the woman or man.

In any case, we recommend genetic counselling and, if necessary, diagnostics if:

  • there is premature ovarian failure.
  • there is a severe restriction of the sperm count (< 1 million/ml) or there are no sperm cells in the ejaculate (azoospermia)
  • you or your family have had repeated miscarriages.
  • there have been repeated failures to achieve pregnancy through in-vitro fertilization.
  • there are cases of physical or mental disability in the family.
  • there are other serious illnesses in the family (e.g. cystic fibrosis, spinal muscular atrophy, cancer at a young age).
  • here is a family relationship between the two of you (so-called consanguineous marriage).

A simple translocation (=mutation of chromosomes) or the number of chromosomes can be determined with a blood test.

    Examination of the polar body which develops during the meiosis of the oocyte. With polar body diagnostics we can only determine the genetic health of the oocyte and therefore only analyse the maternal part of the embryo.

    Recommended in cases of: 

    • reduced ovarian reserve
    • increased ovarian reserve
    • higher maternal age (>37 years) 
    • known maternal genetic disorders
    • previous pregnancies with chromosome disorder of the child
    • carriers of severe hereditary diseases

    Examination of the embryonic cells, which develop into the placenta. The trophectoderm biopsy offers the possibility to detect changes in paternal genetic material. This type of biopsy is used when the less invasive polar body diagnostics is insufficient.

    Prerequisites: 

    • three or more IVF attempts without nidation with suspected chromosomal disorder of the embryos
    • three or more spontaneous miscarriages with suspected chromosomal disorder of the child
    • know maternal genetic disorder
    • previous pregnancies with chromosome disorder of the child
    • parent is carrier of a severe hereditary disease

    The genetic examination of egg cells or embryos without touching them (non-invasive) is currently being researched in general. This method may have a certain value in the future.
    The Spanish company "Igenomix" has just launched a commercial NIPID test called by the name "Embrace". At the moment, however, this method cannot replace the classic method of genetic testing, because the results of the non-contact test are only correct to 78%. The result is wrong in around a quarter of the tests. In addition, the embryo has to be cultivated one day longer than before, namely up to the 6th day, and then frozen. Only through this long culture is it possible to send the culture medium in which the embryo was located to Spain for analysis. The result of the examination is not a statement about the genetics of the embryo, but only a recommendation as to whether this embryo is best suited for the transfer.

    The method is therefore only suitable to a limited extent for older patients whose embryos have an increased genetic risk and therefore the pregnancy rate is also lower. They also have fewer egg cells, so that an extended embryonic culture or the additional cryopreservation required with this new method further lowers the pregnancy rate. Therefore, polar body diagnosis is currently the better alternative, as it can also be carried out on a small number of egg cells and the result is available so early that cryopreservation and thus interruption of the treatment cycle is not necessary.