A Prospective Study of a Mosaic Embryo Transfer

This research is a prospective study in which the purpose is to investigate the clinical outcomes following the transfer of a mosaic embryo (presence of both chromosomally normal and abnormal cells) that has been screened for preimplantation genetic testing (PGT).

This research is a prospective study with the purpose is to investigate the clinical outcomes following the transfer of a mosaic embryo (presence of both chromosomally normal and abnormal cells) that has been screened for preimplantation genetic testing (PGT). PGT involves the biopsy and testing of a handful (3-6) of trophectoderm (pre-placental cells) from the embryo. Embryos that are screened as mosaic via PGT, as a standard, are not offered for transfer for pregnancy attempt. Publications have shown that mosaic embryos and mosaic fetuses can result in healthy live births (Wallerstein et al, 2015; Victor et al, 2019). Ongoing clinical outcomes are important to further understand the association between an embryonic mosaic biopsy of pre-placental cells and subsequent fetal chromosomal constitution. Implantation rates and live birth rates will be evaluated to help understand if mosaic embryos should routinely be offered for transfer to patients attempting pregnancy.

Women will have a mosaic embryo transferred to their uterus after in vitro fertilization (IVF) with pre implantation genetic testing completed at Colorado Center for Reproductive Medicine.

Ultrasound will be performed 2-3 weeks after initial positive pregnancy test to confirm viable pregnancy as evidenced by gestational sac in the uterus with a fetal heat rate

Products of conception will be karyotyped if available following a miscarriage and compared to that of previous PGT testing if the patient is willing to have the testing.

Patient will be evaluated after delivery to assess if patient had any complications associated with the pregnancy. This will be completed with telephone interview

If available, we will request any results of prenatal testing of karyotype that was obtained via Amniocentesis or Chorionic Villa Sampling (CVS)

Patient will be contacted to assess the health of the infant, noting any medical problems if any that the baby has.

Inclusion Criteria: Women age 18-45 Infertile women who have completed an IVF cycle with PGT at the Colorado Center for Reproductive Medicine (CCRM) that have a mosaic embryo Patients can be of any race, culture, sexual orientation or ethnicity Patients that are willing to transfer a single embryo Exclusion Criteria: Patients that do not meet the clinical requirements for an embryo transfer per clinic standards. Patients that desire more than a single embryo transfer. Patients that are using a gestational carrier. Embryonic mosaic PGT results that include chromosome errors 13, 18, 21 Patients that did not complete their IVF with PGT cycle at the Colorado Center for Reproductive Medicine.

Wallerstein R, Misra S, Dugar RB, Alem M, Mazzoni R, Garabedian MJ. Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations. Prenat Diagn. 2015 Sep;35(9):841-7. doi: 10.1002/pd.4620. Epub 2015 Jun 23.

Victor AR, Tyndall JC, Brake AJ, Lepkowsky LT, Murphy AE, Griffin DK, McCoy RC, Barnes FL, Zouves CG, Viotti M. One hundred mosaic embryos transferred prospectively in a single clinic: exploring when and why they result in healthy pregnancies. Fertil Steril. 2019 Feb;111(2):280-293. doi: 10.1016/j.fertnstert.2018.10.019.