Preimplantation genetic diagnosis (PGT)

For families affected by a known genetic disease, pre-implantation genetic diagnosis (PGD) can be an important option under certain circumstances to minimize the risk of passing on serious hereditary diseases. The aim of this genetic analysis procedure is to examine embryos for specific genetic or chromosomal abnormalities at an early stage of development - even before they are transferred to the uterus. This can increase the probability of having a healthy child.

In Switzerland, the use of pre-implantation genetic diagnosis is strictly regulated by law and is only permitted under certain conditions. It can be considered, for example, if one or both parents are known to have a genetic mutation that is highly likely to be passed on to the child. PGD can also be useful for couples who have suffered repeated miscarriages or for whom previous IVF treatments have been unsuccessful. In addition, PGD can be used in women aged 35 and over to better detect chromosomal abnormalities, which occur more frequently with increasing age.

Our interdisciplinary team of doctors takes the time to carefully analyze the individual starting situation and the existing medical findings. In a personal consultation, we clarify with the couple whether the requirements for PGD are met and to what extent genetic testing is sensible and legally permissible in the specific case. We attach particular importance to providing sensitive, transparent support.

PGT-A (Preimplantation Genetic Testing for aneuploidy)

The deviation from the normal number of chromosomes, i.e. individual chromosomes are surplus or missing (aneuploidy) is often a cause of pregnancy failure or miscarriage. There are many types of chromosomal abnormalities - they are divided into numerical and structural. Numerical anomalies have one chromosome more or one chromosome less than the normal chromosome set. A structural anomaly is when part of a particular chromosome is missing, supernumerary or has been transferred to another chromosome.

The PGT-A technique is used to identify numerical chromosomal abnormalities in embryos. Humans have 23 pairs of chromosomes, i.e. a total of 46 chromosomes. One of the most common numerical abnormalities - known as Down syndrome - is when chromosome 21 is present in triplicate (trisomy 21) instead of in duplicate. People with Down syndrome have 47 chromosomes.

PGT-M (Preimplantation Genetic Testing for monogenic diseases)

Monogenic diseases are hereditary diseases that are caused by the mutation or alteration of the DNA sequence of a single gene and can be transmitted to offspring. The PGT-M procedure is a reliable method for families with a genetic predisposition who wish to have their embryos tested for the carrier of the genetic defect before implantation.

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