Embryo Genetic Testing - Prof Kruger Explains

Aevitas physicians, Prof Kruger and Dr Hulme, recently returned from the ESHRE congress. ESHRE is a congress hosted annually in Europe. At this congress the newest research in the field of human fertility treatment is presented. Furthermore, ESHRE 2017 was attended by about 8000 international colleagues. It allowed Aevitas physicians, Prof Kruger and Dr Hulme, access to some of the newest international research (before being published). Furthermore, it served as refresher of already established knowledge. As reflection on the congress, the main topics of discussion is ‘Embryo genetic testing‘. Furthermore, Prof Kruger will inform us of the regulation and standard of South African fertility clinics.

PGS tests the embryo for chromosomal abnormalities (missing or additional chromosomes). PGD, on the other hand, tests the embryo for specific genetic disease.

If it is of knowledge that there is a history of genetic disease in the couple’s family (for instance muscle dystrophy, which is sometimes present in young children and can lead to a very shortened life span), PGD can be performed to detect if the genetic disease has been transferred to the embryo. There are two options to perform embryo genetic testing. Firstly, a genetic test can be performed once conception has taken place and the pregnancy can be terminated if the couple chooses to. However, another option is for PGS/PGD testing to be performed during an IVF cycle, so the embryo is tested for genetic disease before implantation – if the embryo is healthy and the chromosomes are normal, the embryo is transferred into the mother’s uterus.

PGS is performed to test the chromosomes of the embryo, which was believed to assist in selecting the healthiest embryo out of the pool of six, which would allow the strongest chance of a successful pregnancy. New studies show us that the success of this method is only 97% accurate. Since a needle is placed in the embryo to perform this test, the embryo’s chance of survival can be affected by this procedure. In addition to this, it’s high, added costs for the patients.

In conclusion, PGS is a high cost test, which should not be performed purely for the purposes of convenience. Indications to perform PGS/PGD testing (embryo genetic testing), is purely if there are genetic abnormalities or -disease, which could be carried over to the embryo.

SASREG is the registering body that monitors and oversees the standards of fertility clinics in South Africa. Therefore, if you are seeking a fertility clinic, firstly confirm whether the clinic is SASREG registered, as it would be a good indication of the standard of the clinic.