Monogenic diseases detection

At present there are 350 mln people affected by rear diseases in the world. Around 80% of the diseases are of genetic character. For example, Europe counts 6% of people with hereditary diseases in a population. If a mutation gene that caused a genetic disease is detected in a family, it is recommended to undergo preimplantation genetic diagnosis.

PGD helps detect hereditary monogeneous diseases

The diagnosis is recommended to be done, when someone in a family is affected by a hereditary disease, or a disease is detected in the result of a screening. PGD helps to select embryos free of any genetic diseases.

We perform PGD for many hereditary diseases among which there are:

• mucoviscidosis;
• phenylketonuria;
• hereditary miopathy;
• haemophilia A and B and ect.

PGD is used to cure children affected by hereditary diseases

Over the recent years the USA and the EU have been using PGD to cure children who need a bone marrow transplantation, even if they don´t have a suitable donor for them.

In such cases embryologists select an embryo which is both free of mutations and is histocompatible with the diseased child. Moreover, the stem cells for transplantation can be retrieved from umbilical cord blood collected when a child is born.

HLA-compatibility of embryos helps cure severe hereditary diseases like

• type I and II mucopolysaccharidosis
• Krabbe's disease;
• Kostmann's infantile lethal agranulocytosis syndrome;
• Omenn syndrome;
• Diamond Blackfan syndrome;
• Shwachman - Diamond syndrome;
• Fanconi's congenital aplastic anemia and etc.

Indications for PGD for monogenicdiseases:

• monogenic disease found in a child;
• parents being carriers of a hereditary disease;
• treatment with the help of hematogenous stem cells transplantation;
• risk of having Rh incompatibility during pregnancy in future.