Genetic diagnostics - genetic testing in the diagnosis of infertility treatment
Genetic tests are designed to determine the cause of infertility and to check if the reason for the lack of successful pregnancy is due to changes in genetic material in one or both partners. Genetic disorders are the cause of infertility in up to 30% of couples who face a problem of infertility.
Correct diagnostics involves a number of laboratory tests that allow to confirm or exclude congenital genetic defects in both partners. It should be remembered that in some cases, genetic defects appear only in the offspring, therefore PGS and PGD preimplantation diagnostics is recommended.
Genetic diagnostics during infertility treatment will allow you not only to know the causes of infertility, but also to increase your chance of pregnancy and the birth of a healthy child.
Indications for undertaking genetic diagnostics of both parents and their embryos are, among others, primary menstrual deficiency, POF (premature ovarian failure), and habitual (recurrent) miscarriages in women, and severe oligozoospermia, azoospermia or being a carrier genetic disorders in men.
Genetic diagnostics of both partners
The analysis of a couple's karyotype is a basic genetic test that every couple trying to get pregnant should perform. Any abnormalities in the karyotype can be the cause of genetic disorders, and these can contribute to infertility or even sterility of the couple. This test also prevents the transmission of genetic defects to the offspring.
- CFTR test
Mutations of the CFTR gene contribute to the development of cystic fibrosis and certain forms of infertility in men, such as obstructive azoospermia (obstruction of the sperm release pathway), obstruction of the vasa deferentia their bilateral absence. Mutation of the CFTR gene in women may cause menstrual disorders (secondary amenorrhea), as well as the secretion of too dense mucus in the cervix, which results in the difficult migration of sperm on their way to the egg cell.
Genetic diagnostics in men
- AZF Region
The AZF test helps to determine the cause of genetic male infertility. It is recommended in men if the semen test reveals extreme oligozoospermia or azoospermia. Further treatment of the couple's infertility will also depend on the outcome of the test.
Why do we examine embryos?
InviMed as a modern clinic offers the possibility of testing embryos for genetic defects before transfer. Genetic examination of embryos allows to detect abnormalities in their DNA, which may cause severe developmental defects in the child, or embryo death after implantation. At InviMed clinics we perform two types of pre-implantation genetic tests of embryos:
Pre-implantation genetic diagnosis offers the possibility of analysing genetic material of the embryo or specific genetic, monogenic diseases. This is an extremely sensitive method, it can detect diseases such as cystic fibrosis, haemophilia, or even spinal muscular atrophy. Mutations in the genes of the offspring may occur as a result of the transfer of defective genetic material by one or both partners, as well as by the so-called de novo mutations, i.e. those that occur during the transfer of healthy genetic material - the so-called new mutation.
Pre-implantation genetic screening (PGS) at InviMed is performed using the Next Generation Sequencing (NGS) technique. It gives a detailed reading of the entire embryo genome with the view to examining morphological and numerical abnormalities of the karyotype. PGS screening detects structural and quantitative changes in chromosomes. Any abnormalities concerning the number and structure of chromosomes in the karyotype may cause embryonic malformation and genetic disorders such as the Down syndrome (trisomy of the 21 chromosome pair) or the Patau syndrome (trisomy of the 13 chromosome pair).