[Preimplantation genetic testing]

Area of Science:

• Reproductive Medicine
• Medical Genetics
• Embryology

Background:

• Preimplantation genetic testing (PGT) is an established alternative to prenatal diagnosis for monogenetic diseases and chromosomal rearrangements.
• PGT significantly reduces the risk of pregnancies with affected fetuses.
• PGT for aneuploidy (PGT-A) is widely used with IVF, but its benefits remain debated.

Purpose of the Study:

• To review the evolution and current status of preimplantation genetic testing.
• To discuss the integration of PGT with assisted reproductive technologies.
• To highlight the applications of PGT in reducing genetic disease transmission and its role in IVF.

Main Methods:

• Review of existing literature on preimplantation genetic testing.
• Discussion of the components of PGT: genetic counseling, testing, and assisted reproductive technology.
• Explanation of procedures including ovarian stimulation, egg retrieval, and embryo biopsy.

Main Results:

• PGT for monogenetic diseases (PGT-M) and structural rearrangements (PGT-SR) are effective in preventing affected pregnancies.
• PGT-A is widely implemented but its clinical utility is under ongoing discussion.
• The PGT process integrates genetic expertise with advanced reproductive techniques.

Conclusions:

• PGT has become a crucial tool in reproductive medicine for genetic screening.
• The application of PGT, particularly PGT-A, requires careful consideration of its debated benefits.
• PGT represents a significant advancement in assisted reproductive technology and genetic diagnostics.