Preimplantation genetic testing in assisted reproduction technology

Area of Science:

• Reproductive genetics
• Assisted reproduction technology (ART)
• Embryology

Background:

• Miscarriage is common, with 50% of early losses linked to chromosomal abnormalities.
• Aneuploidy is frequent in morphologically good embryos from ART, impacting pregnancy success.
• Preimplantation genetic testing (PGT) offers a way to enhance pregnancy rates and decrease fetal aneuploidy risks.

Purpose of the Study:

• To clarify the classifications of preimplantation genetic testing (PGT).
• To elaborate on PGT techniques for improving assisted reproduction technology (ART) outcomes.
• To address confusion surrounding PGT definitions and applications in reproductive genetics.

Main Methods:

• Review of existing literature on preimplantation genetic testing (PGT).
• Explanation of PGT classifications: PGT for aneuploidies (PGT-A), PGT for monogenic disorders (PGT-M), and PGT for structural rearrangements (PGT-SR).
• Discussion of the historical context and updated terminology (e.g., PGS, PGD).

Main Results:

• PGT encompasses PGT-A (formerly PGS), PGT-M (formerly PGD), and PGT-SR (formerly PGS translocation).
• Clear definitions are provided for each PGT subcategory and their diagnostic purposes.
• The study aims to reduce confusion among researchers regarding PGT terminology and application.

Conclusions:

• PGT is a vital tool in ART for improving pregnancy success and reducing aneuploidy.
• Understanding PGT classifications is crucial for effective application in reproductive genetics.
• This review provides a comprehensive overview to guide researchers and clinicians in utilizing PGT effectively.