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Specialist in medical genetics
General practitioner
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-Londgin, 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-Londgin in advance.
Costs: The detailled costs for the first genetic consultation can be found on Dr. Rötzer-Londgin's Website. 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-Londgin will be happy to discuss any further costs with you.
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 embryonic cells. On the fifth or sixth day of development, cells can be taken from the outer cell mass (trophectoderm) of embryos that have developed into blastocysts and genetically tested. Trophectoderm diagnosis offers the possibility of detecting changes in the paternal genetic material as well. TEB is used when the less invasive polar body diagnosis is not sufficient. Since the analysis of the cells takes a few days, the embryos must always be cryopreserved and cannot be used in the same cycle as with polar body biopsy. In addition to the legal requirements, a sufficient number of eggs and embryos are also necessary, as only some of the fertilized eggs actually develop into suitable blastocysts.
The requirements for performing TEB are strictly regulated in Austria (§2a FMedG https://www.ris.bka.gv.at/GeltendeFassung.wxe?Query=Federal standards&Law number=10003046):
- three or more IVF attempts with embryo transfer but without implantation with suspected chromosomal abnormalities in the embryos, or
- three or more medically proven miscarriages with a high probability of a genetic cause, or
- one parent is a carrier of a serious hereditary disease—this applies to diseases in which the child becomes seriously ill during pregnancy or after birth. Diseases that may be tested for are listed in the Ministry of Health's genetic analysis register (https://www.verbrauchergesundheit.gv.at/Lebensmittel/gentechnik/rechtoe/GTG/Genregister.html).