Use of preimplantation genetic testing for monogenic disorders and subsequent prenatal care and diagnostic testing

AbstractObjectiveThe goal of preimplantation genetic testing for monogenic or single gene defects (PGT‐M) is to identify inherited pathogenic variants in the embryo prior to embryo transfer, increasing the likelihood of an unaffected child. Prenatal diagnostic testing is recommended to confirm the results of PGT‐M. The purpose of this study was to characterize the population undergoing PGT‐M over time.MethodsThis retrospective study examined patients who had a positive pregnancy test after PGT‐M from 2012 to 2019. A query of the internal assisted reproductive technology database and chart review were used.ResultsOne hundred and 42 patients completed IVF cycles for PGT‐M during this time period and progressed past 10 weeks gestation. There were more PGT‐M cycles over time with 46 cycles between 2012 and 2015 and 96 cycles between 2016 and 2019. Patients varied on the decision to pursue prenatal diagnostic testing after PGT‐M. For those with known follow‐up (130/142), 16 patients underwent diagnostic testing (12%) and 114 did not.ConclusionAs PGT‐M is increasingly utilized prior to pregnancy, it is important for genetic counselors and OB/GYNs to understand the characteristics and outcomes of the population of patients undergoing PGT‐M, including how to counsel about the residual risk of an affected pregnancy after PGT‐M.