Chromosomal, Gestational, and Neonatal Outcomes of Embryos Classified as Mosaic by Preimplantation Genetic Testing for Aneuploidy

To understand the clinical risks associated with the transfer of embryos classified as mosaic by preimplantation genetic testing for aneuploidy. Analysis of multi-center data collected between 2017 and 2023. Patients of infertility treatment. Comparison of pregnancies resulting from embryos classified as euploid or mosaic using the 20-80% interval in chromosomal intermediate copy numbers to define a mosaic result. Rates of spontaneous abortion, birth weight, length of gestation, incidence of birth defects, and chromosomal status during gestation. Implanted euploid embryos had significantly lower risk of spontaneous abortion compared to mosaic embryos (8.9% [n=8672; CI95 8.3,9.5] vs. 22.2% [n=914; CI95 19.6,25.0]). Embryos with mosaicism affecting whole chromosomes (not segmental) had the highest risk of spontaneous abortion (27.6% [n=395; CI95 23.2,32.3]). Babies born from euploid, mosaic, and whole chromosome mosaic embryos had average birth weights and lengths of gestation that were not statistically different (3118g and 267 days [n=488; CI95 3067,3169 and 266,268], 3052g and 265 days [n=488; CI95 2993,3112 and 264,267], 3159g and 268 days [n=194; CI95 3070,3249 and 266,270], respectively). Out of 488 babies from mosaic embryo transfers, one had overt gross abnormalities as defined by the Centers of Disease Controls and Prevention. Most prenatal tests performed on pregnancies from mosaic embryo transfers had normal results, and only three pregnancies produced prenatal test results reflecting the mosaicism detected at the embryonic stage (3 out of 250, 1.2%; CI95 0.25,3.5). While embryos classified as mosaic experience higher rates of miscarriage than euploid embryos (with a particularly high frequency shortly after implantation), babies born of mosaic embryo transfers are similar to babies of euploid embryo transfers. Prenatal testing indicates that mosaicism resolves during most pregnancies, although this process is not perfectly efficient. In a small percentage of cases, the mosaicism persists through gestation. These findings can serve in risk-benefit considerations of mosaic embryo transfers in the fertility clinic.