Genetic diseases detection during the IVF procedure

Did you know that you can perform tests before the in vitro procedure that will determine in detail whether your child may be at risk of genetic diseases? These include preimplantation tests PGS and PGD, whose main task is to determine whether offspring is at risk of genetic diseases.

 genetic laboratory Gyncentrum

Modern medicine more and more often outperforms our ideas about methods of diagnosis and treatment. While in vitro itself, as a method of fertilization, is already known, the diagnostic procedures for it is less known. Did you know that you can perform tests before the in vitro procedure that will determine in detail whether your child may be at risk of genetic diseases? These include preimplantation tests PGS and PGD, whose main task is to determine whether offspring is at risk of genetic diseases.

What preimplantation genetic test are?

This is a kind of very early prenatal diagnosis. They are based on the diagnosis of embryos obtained from the procedure of in vitro fertilization and their aim is to show whether the embryos have a genetic defect. Preimplantation tests are performed after prior consultation and the recommendation of a geneticist.
One of the preimplantation tests are: preimplantation genetic screening and preim-plmentation genetic diagnosis. The main difference between the mentioned tests above is that PGS is a test, which detects most common genetic abnormalities in the embryo and the PGD test is about confirming or excluding a specific, indicated genetic disease.

PGS  test - genetic screening

Pre-implantation PGS is a genetic screening test that evaluates the number of all chromosomal pairs in one or several cells of the embryo. Embryos with an inadequate number of chromosomes are called aneuploid, and their potential development is too low and can cause miscarriage or childbirth. Examining the embryo with PGD method enables to determine the risk of transferring a specific genetic disease to the offspring before the woman gets pregnant (before the embryo transfer). 

PGD study - directional genetic examination

PGD is a directional examination in which a specific genetic abnormality is sought. Main indication for performing the test is previously diagnosed specific genetic problem in future parents. . Other indications for the use of pre-implantation genetic diagnosis (PGD) are eg.: the age of a woman over 37 years, the occurrence of genetic diseases in the family, the previous birth of a child with a genetic defect to są wskazania do PGD gdy dokładnie wiemy jakiej mutacji szukamy, unsuccessful in vitro tests (when transferring of good quality embryos) and spontaneous abortions with undetermined cause. Often, many years of efforts to conceive intensify stress and arouse mistrust. Regardless of the method, actions aimed at having a child are burdened with hope and anxiety. Questions like "will we succeed?", "Why is it still failing?", "Will my child be healthy?" are asked by many future parents. The staff of gynaecologists, embryologists and geneticists, thanks to PGD and PGS research, is able to detect, diagnose or rule out a specific genetic defect. Based on the results of the tests, doctors will propose appropriate medical treatment, which will increase the chances of success of the in vitro procedure and the birth of a healthy child, what is a our  priority.