PGD – for Single Gene Disorders

What is PGD for Single Gene Disorders?

Preimplantation genetic diagnosis (PGD) is a technique that provides an alternative to prenatal diagnosis and termination of the pregnancy for couples who are at risk of passing serious genetic diseases onto their children. PGD can help prevent the birth of people with severe genetic diseases which cannot be treated, and who lack the physical and mental skills to take care of themselves, without the termination of pregnancy, before pregnancy is even achieved.

Preimplantation genetic diagnosis offers an alternative not only for couples with such genetic disease risks, but also for couples who cannot achieve a healthy pregnancy due to recurrent miscarriages caused by structural chromosomal abnormalities (e.g., translocation, inversion, etc.).

Who is PGD recommended for?

PGD can be performed in almost all cases where the genetic mutation causing the disease is known. However, diabetes, hypertension, some cardiovascular diseases, and cancers, which are considered to be genetic interactions, but whose formations include a large number of genetic factors, are currently excluded from this practice.

PGD applications are basically divided into two categories. The first category covers single gene diseases. These are autosomal dominant (Huntington chorea, polycystic kidney disease, etc.), autosomal recessive (thalassemia, metabolic diseases, etc.) and hereditary X-chromosome (severe immunodeficiency, Duchenne Muscular dystrophy, Fragile-X, etc.) diseases, whose treatments are almost impossible. The high prevalence of consanguineous marriages in our country increases the risk of autosomal recessive diseases.

In the second category practices, the HLA typing of the embryos can also be performed using the PGD method. HLA typing is especially important in the case of a sibling who has a disease such as thalassemia, some blood cancers, and who needs a bone marrow transplant. HLA-compatible stem cells collected from the umbilical cord or bone marrow of a healthy baby are successfully used in the treatment of the sibling.

How is the PGD test performed?

Before making a decision, it is important for couples who consider PGD to have an idea about the genetic disease that may affect their children, to understand the characteristics of heredity of said disease, and to get genetic counselling to determine the genetic problem causing the disease.

During Preimplantation Genetic Diagnosis in the case of a known genetic disease, a preparatory work called “setup” is performed by sampling blood from the child or parent suffering from the disease. If neither the children nor the parents suffer from the disease, the same procedure is performed on the parents of the parents. Material from early embryos is then tested for genetic mutations. After diagnosis, only healthy embryos are selected for transfer to the uterus.

After pregnancy is achieved, it is recommended to resort to suitable prenatal genetic diagnosis methods (CVS, amniocentesis, etc.).

How much does the PGD test cost?

Due to the current legislation, we cannot publish any price information on our website. For more information about PGD, please fill in our contact form or call us on +90 444 3 949.

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