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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Using Preimplantation Genetic Testing for Aneuploidy (PGT-A) Validation Data to Inform Clinical In Vitro
Andria Besser1, Mina Popovic2, Eric Forman3
1NYU Langone Fertility Center, NYU Langone Health, New York, New York.
None:
Preimplantation genetic testing for aneuploidy (PGT-A) has become a widely adopted component of in vitro fertilization (IVF) practice. However, PGT-A is not a single, uniform test; its predictive value and clinical utility remain highly dependent on test performance and interpretation, both of which vary substantially between laboratories and platforms. This article aims to define the intended goals of PGT-A, evaluate methods for proper test validation, and explore how validation data impacts clinical counseling and decision-making. Particular attention is given to newer diagnostic categories such as mosaicism and segmental aneuploidy, for which clinical validation is limited and inter-laboratory variability is high. While PGT-A can reduce futile embryo transfers and support elective single embryo transfer, misapplication of unvalidated results may reduce IVF success rates. To ensure responsible use of PGT-A, clinicians must demand transparent, assay-specific validation data and use this information to guide evidence-based counseling for embryo transfer, storage, and disposition.
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