Preimplantation Genetic Diagnosis – Single Gene Disordersfidelity2021-11-02T07:54:51+00:00
Single Gene Disorders
Preimplantation genetic screening is a modern technique which is designed to screen healthy embryos before implantation in the womb. The technique is applied only in certain cases, where there may be risk of hereditary disorders being passed from the parents to their future children and prenatal screening is regarded as a supplementary solution.
Various disorders such as muscular discomfort (Duchenne syndrome) thalassemia, cystic fibrosis, haemophilia and various disorders caused by chromosomal abnormalities can be detected with this method and only the embryos which do not have these disorders are selected for embryo transfer.
Preimplantation genetic screening, as mentioned above, is carried out only in specific cases, where there is a detectable genetic problem and, in so far as the couple has consulted the geneticist, the doctor and the embryologist who will handle their case.
It should be noted that the embryo biopsy for preimplantation genetic screening is an invasive procedure and may reduce the possibility of implantation of the embryo. But this largely depends on the experience of the embryologist who handles the embryos and that is why interested couples should approach clinics, whose scientific staff has many years of experience. Additionally, although the sensitivity of the method has been increased drastically, there still remains a chance that the results of the diagnosis are not clear.
The advantages of the method are particularly important for couples who have a genetic disorder:
The risk of transmission of the disorder to the children is eliminated, the diagnoses for the presence or absence of the disorder in children takes place very early,in this way the rate of forced termination of pregnancy due to the presence of genetic abnormalities in the embryo is significantly reduced.
The legislation stipulates that only couples which are at risk of transmitting a serious genetic disorder may proceed with preimplantation genetic control and gender selection.The process includes the written consent of the couple and the provision of genetic counselling.
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