Preimplantation Genetic Testing: PGT-A / PGT-M / PGT-SR

This technique enables certain genetic abnormalities in embryos to be detected. 

Why? : We discriminate between testing for Aneuploidy - PGT-A (an abnormal number of chormosomes, like in Mongolism-trisomie 21), for Monogenic Diseases - PGT-M (as for mucoviscidosis ; a sinle gene mutation can cause this), and for Structural Rearangements - PGT-SR (such as is the case in carriers from a translocation)

Technical details :  A biopsie of one or more cells is taken from a viable embryo on the day 3 or day 5 stage, depending on the situation. Mostly these embryo's will be frozen at the day 5 stage. This will give the genetic lab the time to run their test on them. Only the normal embryo's will be transferred in a subsequent cycle called thawing cycle.

 

Practical info : for the application of this technique, an appointment is made at the medical genetics centre of Leuven university hospital.