Frequency of embryos appropriate for transfer following preimplantation genetic testing for monogenic disease

To identify specific likelihoods that an embryo will be classified as appropriate for transfer after preimplantation genetic testing for detection of a monogenic disorder (PGT-M), with or without preimplantation genetic testing for aneuploidy (PGT-A), separated by inheritance pattern.

Retrospective chart review of 181 selected PGT-M cycles performed at CooperGenomics in 2018 or 2019. For each cycle, the following main outcome data was collected: the number of embryos classified as affected with monogenic disease, the number detected to be chromosomally abnormal, the number that were recombinant, the number that had no result, and if applicable, the number which were aneuploid.

There were significantly fewer embryos appropriate to consider for transfer when PGT-A was included for autosomal recessive and X-linked disorders. There were also fewer for autosomal dominant disorders, though this was not statistically significant. When PGT-A was not included, 45.8% of autosomal dominant, 69% of autosomal recessive, and 47.8% of X-linked embryos were appropriate to consider for transfer. When PGT-A analysis was included, 29% of autosomal dominant, 41% of autosomal recessive, and 22% of X-linked embryos were appropriate to consider for transfer. 96.8% of women elect to include PGT-A when pursuing PGT-M.

This study resulted in specific likelihoods that an embryo would be found appropriate for clinicians and patients to consider for transfer based on the inheritance pattern of the monogenic disease being tested for and whether aneuploidy analysis was included.