Preimplantation Genetic Diagnosis Explained

Women of childbearing age who have a genetic predisposition to diseases, can receive fertility treatments to choose embryos without said genes. This is the core of the genetic preimplantation genetic diagnosis, which is in countries such as Australia, the U.S. and Canada are already a trend.

In a genetic PGD preimplantation genetic diagnosis one can determine prior to its insertion into the uterus, whether that embryo supports any genetic disease by an examination of the embryo. In this way, only healthy embryos are transferred into the womb.

The human genome project has contributed a lot for the accurate determination of the molecular basis of human genetic diseases and many. Also artificial insemination is the discovery that has been a great benefit. With their help, namely a technique could be developed that enables a genetic diagnosis of the embryo prior to its implantation in the uterus.

Portrait of a beautiful young couple smiling together

After careful investigation of the cases they can be applied, for example, in women who have mutations in the genes BRCA 1 and BRCA second. These genes increase the likelihood (60-80%) of developing breast cancer later on. In addition, carriers of BRCA 1 are also more at risk – the numbers are between 30 to 60% – to get ovarian cancer. On the other hand there for a couple in which one partner has this mutation, a 50% chance that even the future child is born with this. With preimplantation genetic inheriting these problems can be avoided.

The procedure of PID is comparable to that of conventional stimulation and differs only by the fact of this, that after two days of fertilization, a biopsy in the cells of the embryo is carried out in the laboratory to determine its chromosomal features. For this purpose, its DNA is examined, where the genes are stored. In this way it can be determined whether the embryo carries a genetic disorder. The affected embryos are then removed and only the healthy inserted into the patient.

At the last meeting of the European Society for Human Reproduction in Istanbul was also the PID issue. The expert for this purpose, Willem Verpoest, invited to more research in the area and presented a survey conducted in 70 European pairs study in which pairs the PID have applied for the elimination of genetic mutations and thereby get completely healthy babies. Overall, there are between 7000 and 8000 genetic disorders caused by mutations, the technology has so much to do.

Photo Credit: Javier Sánchez Mingorance