Preimplantation genetic diagnosis (pgt)

Preimplantation genetic diagnosis (PGD) applications are one of the newest applications of medicine and they have developed very rapidly in a short time in terms of both usage area and confidence interval. Since preimplantation genetic diagnosis applications are test methods performed at the embryo stage, it brings with it the necessity of applying IVF to the patient. Basically, it involves testing the embryos obtained by assisted reproduction technique in a laboratory environment, determining the healthy ones and transferring them to the mother.

Another area of ​​use, which is more widely used than preimplantation genetic diagnosis applications for the diagnosis of a genetic disease carried by the parents at the embryo stage, is the “preimplantation genetic screening” (PGS) method, which is aimed at increasing pregnancy success in in vitro fertilization treatments.

Compared to other branches in the field of medicine, the science of genetics is witnessing advances at a geometric rate. In particular, dizzying developments are observed in cancer genetics, reproductive genetics, nutrigenetics, pharmacogenetics and biotechnological applications in many fields. Compared to other disciplines of medicine, treatment options for genetic diseases are almost nonexistent or very limited. For this reason, prenatal diagnosis practices have held a very important place in the fight against genetic diseases for many years. When a prenatal diagnosis for a genetic disease is made, if the fetus is found to be sick (affected), termination of pregnancy (medical abortion) constitutes the weakest link in prenatal diagnosis practices.

In recent years, there are some conditions where prenatal diagnosis cannot be made, but it is reasonable to make a preimplantation diagnosis; For example, a mother who has breast cancer in her family and carries a BRCA gene mutation may request preimplantation or preconception (testing from polar body), genetic testing, and may want her child not to carry this risk, but for such cases where there is no one-to-one relationship between the genetic code and clinical outcome, prenatal diagnosis is required. remains medically unsustainable.

Preimplantation Genetic Diagnosis in Chromosome Irregularities

Chromosomally balanced carriers have a very important place in preimplantation genetic diagnosis applications.

Reciprocal exchanges between two chromosomes are called reciprocal translocations, while mergers between acrocentric chromosomes using a common centromere are called Robertsonian translocations.

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