Instituto Bernabeu proves the use of the preimplantation genetic test (PGT) to find the repeated miscarriages and implantation failures cause of unknown origin
April, 27th 2022
Reproductive medicine tries to find an explanation for cases in which the embryo does not implant, there’s a spontaneous pregnancy loss, there’s a congenital defect or there’s a diagnosis of infertility. In most cases they are associated with chromosomal alterations such as the exchange of genetic material between different chromosomes (translocations). But sometimes these chromosomal translocations are so small that they cannot be detected with high-resolution molecular techniques such as array-CHG. So-called “cryptic subtelomeric translocations” pose a challenge to science.
Instituto Bernabeu has developed a study to investigate whether the preimplantation genetic diagnosis (PGT) test can be a method to identify these alterations in patients who suffer recurrent miscarriages, those cases in which there is a loss of three or more consecutive pregnancies before the 20th week of pregnancy or recurrent implantation failures.
To do this, the genetics laboratory of the IBBiotech clinic has studied the embryos of several couples who have suffered recurrent miscarriages or implantation failures and who had previously ruled out the common causes: uterine abnormalities, antiphospholipid syndrome, immunological, hormonal and metabolic disorders.
The clinic’s scientists have demonstrated the usefulness of PGT in the case of recurrent miscarriages and implantation failures of unknown origin. This is because its results make it possible to reveal the presence of a translocation and therefore to make an accurate diagnosis of the couple. At the same time, having this information is of great help for genetic counselling.
This research has been presented at the XI ASEBIR 2021 Congress held in Toledo. Instituto Bernabeu participated in this event with 14 scientific papers.
Utility of PGT for the diagnosis of cryptic subtelomeric translocations in patients with recurrent abortion.
B. Lledo, R. Morales, J.A. Ortiz, A. Cascales, A. Fabregat, J. Ten, B. Moliner, A. Fuentes, A. Bernabeu, J. Ll. Aparicio, R. Bernabeu