Do the couples carrying gene mutations which condition autosomally inherited diseases have to be exposed to a 25% risk of giving birth to an ill child? Does a person with an autosomal dominant genetic disorder have to have only 50% chances of having a healthy baby? These dilemmas are dealt with by the INVICTA PGD ONE preimplantation genetic diagnosis. By applying the state-of-the-art technique of Next Generation Sequencing (NGS) it is possible both to perform the preimplantation genetic diagnosis of embryos in couples with a broad spectrum of genetic mutations and to ensure that such couples have healthy children.
Many couples with a family history of mutations in genes causing the occurrence of autosomal recessive disorders (e.g. cystic fibrosis, SMA, thalassemia), autosomal dominant disorders (e.g. Huntington’s disease, Marfan syndrome, neurofibromatosis type I), or X-linked diseases (e.g. haemophilia A and B, DMD) have concerns about having children. In numerous cases they struggle with the disease themselves and they would like to prevent their children from such suffering. Nowadays the preimplantation genetic diagnosis, by applying the technique of Next Generation Sequencing (NGS) provides us with the possibilities of preimplantation genetic diagnosis targeting the genetic diseases irrespective of the type of genetic background: starting from point mutations, through deletions, insertions, and ending with translocations.
Autosomal recessive disorders are the most common hereditary diseases. The occurrence of the disease is connected with the presence of a mutation in both alleles. Frequently, partners carry different mutations within the same gene. Their children can obtain the status of double heterozygote which is tantamount to the occurrence of a disease. Changes in the genome can vary: from point mutations, through microdeletions, inversions, up to large deletions or insertions. The procedure of IVF INVICTA PGD ONE allows performing the diagnosis of several mutations thus significantly increasing the chances of having a healthy child.
If only one partner is affected by an autosomal dominant disorder, the chances of having an ill child are 50%. In fear of giving birth to an ill child, couples often give up their desire to have children. However, carrying a hereditary autosomal dominant disorder does not have to be the reason for giving up the wish to enlarge the family. For such couples, the application of INVICTA PGD ONE preimplantation genetic diagnosis is a perfect solution.
X-linked diseases most often manifest in men while women are often only the carriers. As this type of disease is sex-linked, until now couples focused only on the determination of the child’s sex. On this basis the decision on the further course of the IVF process was taken. With the use of INVICTA PGD ONE it has become possible to target the diagnosis at a defined change in genes in X chromosome. Therefore, it is no longer necessary to risk the carrier status only by choosing the sex of the child.
In the course of developing the INVICTA PGD ONE preimplantation diagnosis for a given couple, thanks to the application of the most advanced molecular biology technique, NGS, it is possible to perform the diagnosis of several loci within the examined gene or genes, based on the material obtained in the course of a single biopsy of the embryo. A scarce amount of material allows obtaining a large amount of credible information on examined genome changes; in consequence, the chances of giving birth to a healthy child increase significantly.