Genetic ambulatory office

Preparation for pregnancy

Pre-conception genetic examinations

A genetic examination of the couple and subsequent genetic counselling should be carried out before the couple attempt pregnancy (conception); therefore it’s called a pre-conception examination. Assessment of personal and family medical history may point out the risk of a hereditary disease that has already occurred in the family and can be repeated in additional offspring. A purpose of the pre-conception genetic examination is also to reveal a hidden carrier of the inherited diseases in the future the parents, which can be manifested for the first time in a serious disease of their descendants.

Pre-conception genetic examinations usually include:

Clinical genetic examination – analysis of personal and family medical history of both partners in the form of a genetic consultation.

Examination of the chromosomes of both partners. Chromosomes are units in the cell visible with a microscope on which the genes are located. In women we also examine the predisposition for increased clotting of the blood (the Factor V Leiden thrombophilia mutation of gene F5 and mutation of the gene for prothrombin F2) and other congenital dispositions important for the response to treatment by methods of assisted reproduction and for the course of pregnancy (e.g. estimated response to hormonal treatment by examination of the gene FSHR).

At the same time we examine hidden carriers of gene changes (mutations), which can be the cause of a disease with a recessive type of heritability in the carrier’s descendants. In Central Europe and our population these mainly involve cystic fibrosis (CF) and spinal muscular atrophy (SMA).

The newly offered CarrierTest, in cooperation with the workplace GENNET CZ, uncovers mutations of a panel of 79 genes, which may be the cause of other recessive diseases affecting, for example, the senses of a descendant (hearing, etc.) or metabolic diseases. In men with a serious semen disorder the examination examines the loss (microdeletion) of material on chromosome Y (azoospermia factor – AZF).

According to the results of the pre-conception examination, it’s possible to propose the optimal approach in planning of future pregnancy, or after a spontaneous pregnancy or with treatment methods of assisted reproduction. With methods of assisted reproduction, a pre-conception genetic examination at the same time decides on indications for pre-implantation examinations (PGD or PGS) and planning management of the future pregnancy (prenatal diagnostics).