Preimplantation Genetic Testing for familial Monogenic disease (older name PGD: Preimplantation Genetic Diagnosis of monogenic disease)
Preimplantation genetic testing of monogenic diseases (PGT-M) is a targeted diagnosis of particular serious familial monogenic diseases (autosomal recessive, autosomal dominant or X-linked) in which there is a high risk of birth of a disabled child. This examination is always performed only upon indication of a clinical geneticist after careful evaluation of the family history.
Indications for examination:
- Carriage of a predisposition (mutation) for a serious genetic disease caused by impairment of one gene in one or both partners that is associated with a high risk of birth of a child affected by the respective condition.
The examination is performed on the cells of the trophectoderm extracted on the 5-6th day of the embryo development. Only exceptionally, if for some reason the extraction of the cells of the trophectoderm is impossible, the examination can be performed on blastomeres.
PGT-M is performed on the Karyomapping platform (Illumina) that enables a robust examination of monogenic diseases on the principle of indirect diagnosis and at the same time the orientation screening of the quantitative changes of all chromosomes. Examination of monogenic diseases (PGT-M) is organized in cooperation with referral laboratories.
If you choose to undergo the therapy with preimplantation genetic testing its course will be similar to the "regular" IVF-ICSI treatment. The only difference is that the biopsy (extraction of several trophectoderm cells) is performed on the 5-6th day of the embryo development. The embryonal material is then analysed in the genetic laboratory and the biopsied embryos are vitrified. As soon as the results of the genetic testing are available the IVF-ICSI therapy goes on and ends with the transfer of a healthy embryo.
Genetic analysis and consultation
2019/08/27 IVF Zentren Prof. Zech – Pilsen, RNDr. Martina Hrubá, Ph.D.