Genetics

Genetic testing often plays an irreplaceable role in the investigation of infertility. The importance of genetic tests for infertile couples has been recently overestimated in the Czech Republic. Generally, if there is no genetic disease in the family, if there is a normal semen analysis (spermiogram) in man (normospermia), regular menstrual ovulation cycle in woman and the woman has not had a recurrent miscarriage, the probability of finding a genetic abnormality is the same as in the general population.

Modern science, however, has already found that there are many other infertility causes of genetic origin – e.g. the inability of sperm to fertilize the oocyte even if having normospermia, low quality oocytes at a young age, unexplained infertility or antibodies against reproductive tissues. These are delicate genetic disorders; so far we have known just some of them and there are many others which are not detectable using current genetic examination and are under investigation.

Here are current rational recommendations for genetic tests for infertile couples:

1. Congenital developmental defects of genitalia or disorders of sex development;
2. Primary amennorhoea (if menstruation does not occur in girls under the age of 15);
3. Ovarian failure, premature menopause – under the age of 40;
4. Pathological result of semen analysis (spermiogram) - azoospermia or severe oligoasthenospermia;
5. Unusual appearance or low intellect;
6. Recurrent miscarriage;
7. The birth of a child with disability to the infertile couple or their relatives;
8. Incidence of chromosomal defects in the family.

According to law, each egg donor and sperm donor have to undergo genetic tests.

Consultation or examination by a geneticist is sometimes necessary even during pregnancy. The geneticist discusses with a pregnant woman, for example, the abnormal result of ultrasound and biochemical screening and recommends further action. The geneticist can also assess the potential negative impact of harmful substances, such as drugs, on fetal development, etc.

We offer all the services at our working place. These issues are dealt with by M.D. Petr Lošan, a clinical geneticist, from the Genetika Plzeň, accredited genetic working place.