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. It is concluded that PGT-M without PGT-A is preferred to achieve an unaffected live birth. Since PGT-M is mostly undertaken by couples where the female partner is younger than 35 years, PGT-A is likely to marginally mitigate the risk of miscarriage. Experimental non-selection studies are needed to assess the potential detrimental effect of combining PGT-M with PGT-A in a clinical setting.