Imagine a couple that wants to start a family together. Unfortunately, there is a lethal genetic disease running in the family. Until not that long ago, the presence of the genetic defect could only have been detected in the foetus during pregnancy, facing the couple with the almost impossible choice of either having an affected child or having to terminate the pregnancy. This dilemma has inspired scientists at Maastricht UMC+ to develop and implement "Pre-implantation Genetic Diagnostics", or PGD.
PGD starts with a normal IVF procedure in which the egg is fertilised in the laboratory. Then the embryo is cultivated in the lab until the stage where it consists of 8 or 16 cells. One of these cells is removed from the embryo and subjected to a highly specialised genetic test. Only embryos that are not affected with the genetic defect are implanted in the womb. If this procedure turns into a pregnancy (the chance is about 25%, as in a normal IVF procedure), the child will not be affected with the genetic disease.
Because of its leading role in this field, the PGD centre in Maastricht is the only place in the Netherlands allowed to perform PGD. This is the result of a long and sometimes difficult process in which decision-makers like politicians, health insurers and medical professionals had to be convinced of the potential of PGD. To date, PGD has resulted in hundreds of healthy babies and the number of genetic diseases in which PGD can be applied is still rising.