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Rare Disease Forum by Genetidoc Genetic Clinic › Forums › Genetic Testing › Preimplantation Genetic Testing › Preimplantation Genetic Testing – Aneuploidy › What are the limitations of Preimplantation Genetic Testing for Aneuploidy?
What are the limitations of Preimplantation Genetic Testing for Aneuploidy?
*Biopsy and mosaicism: The trophectoderm biopsy samples only a few cells, which may not always represent the full embryo, particularly in mosaic embryos.
*No embryos may qualify for transfer: In women with diminished ovarian reserve or advanced maternal age, it is possible that no embryo is classified as euploid in a given cycle.
*Additional cost and time: The biopsy, genetic analysis, and typically an accompanying frozen embryo transfer add to the overall cost and duration of treatment.
*Does not test for all genetic conditions: Preimplantation Genetic Testing for Aneuploidy screens for chromosome number abnormalities only; it does not detect single-gene disorders (which require *Preimplantation Genetic Testing for Monogenic disorders) or structural rearrangements below its resolution threshold.
*Not a guarantee of pregnancy: A euploid result improves the odds but does not guarantee implantation or a live birth, as uterine, endocrine, and other factors also influence outcomes.