Background: The growing use of preimplantation genetic testing with in vitro fertilization has provided clinicians with more information about the genetics of embryos. Embryos, however, sometimes result with a mixed composition of both aneuploid and euploid cells, called mosaic embryos. The interpretation of these results has varied, leading some clinicians to transfer mosaic embryos and some opt not to. In addition, laboratories providing preimplantation genetic testing for aneuploidy have differing thresholds for determining an embryo aneuploid, mosaic, or euploid. Overall practice patterns for mosaic embryo transfer practices in the United States are unknown. Objective(s): The objectives of the study were to characterize national mosaic embryo transfer practices, including the use of preimplantation genetic testing for aneuploidy, prior history of transferring mosaic embryos, thresholds for determining mosaicism, and willingness to transfer mosaic embryos among assisted reproductive technology clinics in the United States. Study Design: A 14 question online survey assessing current use of preimplantation genetic testing for aneuploidy, thresholds for determining mosaicism, and clinic experience and willingness to transfer mosaic embryos was e-mailed to 405 assisted reproductive technology clinics across the United States. Descriptive statistics and logistic regression were used to analyze survey responses and identify clinical factors associated with reporting having ever transferred a mosaic embryo. Results: Of the 405 US assisted reproductive technology clinics contacted, 252 (62.2%) completed a survey, including 157 private (62.3%), 55 academic (21.8%), and 40 hybrid (15.9%) clinics. Most clinics (168, 66.7%) reported conducting preimplantation genetic testing for aneuploidy on less than 50% of all in vitro fertilization cycles. The most common type of preimplantation genetic testing for aneuploidy technology used was next-generation sequencing at 88.9%. Ninety-one clinics (36.1%) receive mosaicism data on their preimplantation genetic testing for aneuploidy report; the most common thresholds for determining embryo aneuploidy and euploidy by clinics’ primary genetics laboratories were <20% normal (36.3%) and >80% normal (46.2%), respectively. Thirty-nine (42.9%) of the 91 have transferred and 57 (62.6%) would transfer a mosaic embryo. Nearly 40% of clinics were unsure about their thresholds for mosaic transfer and one fourth of clinics reported they had no threshold. Private (odds ratio, 1.0, 95% confidence interval, 0.5–1.8) and hybrid (odds ratio, 0.9, 95% confidence interval, 0.4–2.1) clinics were just as likely as academic clinics to report having transferred a mosaic embryo. Clinics in the northeastern United States were more likely to have transferred a mosaic embryo than clinics in other regions (odds ratio, 1.5, 95% confidence interval, 0.9–2.7). Most clinics (72.6%) report they do not have a unique consent for transfer of mosaic embryos. Conclusion: There is uncertainty and variability in the transfer practices of mosaic embryos and classification of mosaicism among US assisted reproductive technology clinics. These findings provide an opportunity to establish mosaicism thresholds and create standardized guidelines for transferring mosaic embryos.
- mosaic cutoffs
- mosaic embryos
- preimplantation genetic testing for aneuploidy
- transfer practices