Elucidating the PGT-A paradox: marginalising the detriment relegates the benefit.

The hypothetical analysis presented offers insight into the effect of maternal age and protocol on the cost-effectiveness of PGT-A to reduce the risk of clinical miscarriage without materially jeopardising the chance of a first live birth when attempting to transfer every suitable embryo one at a time. Reflecting current practices, the diagnostic accuracy of PGT-A is sensitive to the prevalence of embryos with chromosome aneuploidy which increases with advancing maternal age, and the power of the test to discern a non-viable embryo is higher for older women and sensitive to protocol. PGT-A is effective to mitigate (reduce not eliminate) the risk of clinical miscarriage; however, excluding embryos with intermediate copy number results from transfer is detrimental to accomplishing a first live birth from a full cycle.

Combining PGT-A with PGT-M risks trying to do too much.

The primary objective of preimplantation genetic testing for monogenic disorders (PGT-M) is to avoid having a child with a serious monogenic disease. Combining testing for unrelated sporadic chromosomal abnormalities (PGT-A) and excluding embryos with chromosomally abnormal results from transfer proffers the chance to mitigate the risk of miscarriage and to reduce the number of embryo transfers, but also risks excluding healthy embryos from transfer due to abnormal test results that do not reflect the true potential of the embryo. The theoretical utility of combining PGT-M with PGT-A is explored in this communication.

Carrier screening and PGT for an autosomal recessive monogenic disorder: insights from virtual trials.

Purpose: To assess the costs and benefits of carrier screening and preimplantation genetic testing (PGT) for recessive autosomal monogenic disorders for couples attempting assisted conception.

Methods: A simulated first full cycle for women less than 35 years transferring embryos one at a time. The effect of testing on pregnancy outcomes was evaluated for different reporting scenarios.