Preimplantation genetic testing for aneuploidy: challenges in clinical practice

Area of Science:

• Reproductive Medicine
• Genetics
• In Vitro Fertilization

Background:

• Preimplantation genetic testing for aneuploidy (PGT-A) is widely used in assisted reproductive technology.
• Concerns exist regarding PGT-A's application in clinical decision-making.

Purpose of the Study:

• To address knowledge gaps in PGT-A.
• To summarize major challenges and current professional guidelines for PGT-A.

Main Methods:

• Review of current PGT-A practices and guidelines.
• Analysis of PGT-A's limitations, including its screening nature and mosaicism issues.

Main Results:

• PGT-A is a screening, not diagnostic, test.
• Embryonic mosaicism in PGT-A is higher than previously recognized, potentially misrepresenting genetic risks.
• Clinical validation of PGT-A is lacking, and its optimal use in specific patient groups is uncertain.

Conclusions:

• Current industry self-regulation for PGT-A is insufficient.
• The Food and Drug Administration (FDA) may be best suited to provide definitive PGT-A guidelines and regulations.
• Improved PGT-A practices require more robust validation and oversight.