Preimplantational Genetic Diagnosis

What is preimplantation genetic diagnosis (PGD)?

Preimplantation genetic diagnosis (PGD) is a procedure that makes it possible to detect the presence of genetic diseases or chromosomal alterations in an embryo generated in vitro, at a very early stage before it is implanted in the uterus. Therefore, this technique makes it possible to avoid therapeutic abortion, which often psychologically destabilizes the patient.

What does it consist of?

The first phase of PDG is represented by ovarian stimulation to induce the maturation of several follicles in order to have a greater number of oocytes. It is possible to know when maturation is complete by ultrasound. The oocytes are then collected transvaginally, always under ultrasound control, by inserting a microneedle into the vagina and “sucking” the mature oocytes. The collected fluid is sent to the laboratory, examined under a microscope and, using high-precision tools, a single sperm is inserted into the oocyte (in vitro fertilization by intracytoplasmic injection-ICSI).

The next phase involves the biopsy of an embryo (removal of a cell, called a blastomere, from the embryo) for genetic analysis. A solution is introduced into the test tube that allows lysis of the cell and release of the DNA and, by means of an in vitro enzyme amplification reaction known as PCR (polymerase chain reaction), it is possible to detect possible genetic mutations. This phase is the most important part of the preimplantation genetic diagnosis process and for this reason it must be performed with reliable procedures and tools. Finally, after performing the mutation analysis on the tested cells, only embryos that have not shown mutations during the test are inserted into the patient.

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What does the test feel like?

Preimplantation genetic diagnosis (PGD) is a painless procedure that does not require anesthesia or sedation.