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.

  • Risk of micro-deletions („missing pieces“) of the Y-Chromosome due to poor sperm quality  
  • Obstruction of the seminal duct through a mutation in the CFTR gene (gene for the existence of cystic fibrosis)
  • Father and/or mother are carriers of changes in genetic material
  • Chromosomal maldistribution in oocytes
  • Maternal translocation (shift of a chromosome)

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.