IVF success rates in individuals accessing preimplantation genetic testing for monogenic conditions (PGT-M): a single centre retrospective cohort study of 572 IVF cycles.

Purpose: To evaluate live birth rates per embryo transfer where the primary indication for assisted reproduction was preimplantation genetic testing for monogenic conditions.

Methods: All oocytes were fertilized using intracytoplasmic sperm injection. On days 5-7, ~ 5 trophectoderm cells were biopsied. Whole genome amplification was performed on biopsy samples, followed by a karyomapping protocol. Embryos underwent concurrent 24-chromosome screening. Outcomes included the number of stimulated cycles resulting in embryo biopsy, monogenic and aneuploidy screening results, embryo transfers, and clinical pregnancies and live births. Generalized Estimating Equations were used to analyze the relationship between binary clinical outcomes and fertility covariates.

Results: Between 2015 and 2022, the laboratory biopsied and tested 2344 embryos for monogenic indications, from 527 stimulated cycles. Eight hundred forty-nine biopsied embryos were euploid and low probability of the condition of interest. Five hundred and thirteen embryos were transferred, resulting in 263 clinical pregnancies, and 230 live births. This translated to clinical pregnancy and live birth rates per embryo transfer of 51.3% (95% CI, 47.0-55.6%) and 44.8% (95% CI, 40.6-49.2%). Compared with patients undergoing preimplantation genetic testing without a subfertility factor, patients with a subfertility factor were 48% less likely to achieve a clinical pregnancy per embryo transfer (β = - 0.4797474, p = 0.026) and 42% less likely to achieve a live birth (β = - 0.4172361, p = 0.052).

Conclusions: Individuals accessing preimplantation genetic testing for monogenic conditions have higher clinical pregnancy and live birth rates than couples accessing in vitro fertilization for other indications such as subfertility. These findings confirm that preimplantation genetic testing is an effective reproductive option for Australian carrier individuals.