Use of Preimplantation Genetic Diagnosis (PGD)

In situations where a couple seeking treatment for infertility issues has a proven genetic predisposition for a serious genetic disorder which might be passed on to their offspring, or for example when the couple is faced with several previous unsuccessful IVF attempts or miscarriages, and the results point to genetic causes, further clarification through PGD is an option. The use of PGD allows for the screening of embryo cells in order to detect chromosome disorders (aneuploidy and e.g. translocation) and genetic diseases (e.g. cystic fibrosis) prior to embryo transfer.

Chronology - IVF Centers Prof. Zech | Preimplantation Genetic Diagnosis (PGD)

In 1996, we established a cooperation with the group of Prof. Yuri Verlinsky ("Reproductive Genetics Institute - RGI" in Chicago) - who pioneered in the field of genetic analysis of embryos and polar body diagnosis - and we subsequently performed the first polar body diagnosis in Austria. In close cooperation with the RGI and their pioneers, our team has further developed these techniques since then.

Encouraged by existing legal possibilities in Italy, in 2001 we founded the IVF Center Prof. Zech in Meran to be able to successfully offer these PGD techniques.

Due to legal restrictions that came into force at a later point in time in Italy, we felt compelled to look for alternatives. We thus established the IVF Center Prof. Zech in Pilsen, Czech Republic, where the focus is on preimplantation genetic diagnosis and egg donation. Diagnostics performed on polar bodies and embryos on day 3 (removal of 1 to a maximum of 2 cells from the eight cell organism) was state-of-the-art at the time when it came to the analysis of chromosomes and monogenetic diseases (aneuploidy screening and detection of translocations, PCR).

In 2012, a joint initiative with the scientists from PGDIS (Preimplantation Genetic Diagnosis International Society) was launched at the world congress in Bregenz, ushering in a new era in embryo diagnostics: "11th international Conference on Preimplantation Genetics Diagnosis: Where to next for PGD? From polar body to blastocyst - the evolving genome" (www.pgdis-2012.com) Prof. Alan Handyside was its scientific coordinator. In 1990, Prof. Handyside was the first worldwide to successfully perform PGD involving the testing of an embryo in its eight-cell stage in order to exclude a sex-linked disease. With the start of this so-called "second era of PGD" on the occasion of the 11th World Congress in Bregenz, new technologies such as "24sure" as well as "Next Generation Sequencing" were first presented to a wider scientific audience by the pioneers of these new platforms. In the course of further discussions, the technique of trophectoderm biopsy on day 5 embryos (blastocyst) was widely established. Biopsy performed on day 3 embryos may therefore be considered "obsolete".

The method of blastocyst culture and selection of the best embryos on day 5 are techniques that have constantly been refined since approximately 1996. Combined with the establishment of new techniques for freezing embryos at the blastocyst stage by means of vitrification ("VitriSafe"), they enabled us to successfully implement this "second era of PGD".

All these techniques (including those of the second generation) are established at our IVF Center Prof. Zech- Pilsen and can now for the first time be used at our locations in Bregenz and Salzburg in compliance with the new Austrian Law on Reproductive Medicine. Together with the international scientific community, we are constantly developing the techniques for preimplantation genetic diagnosis.