Clinical Research Directory

Embryo Assessment Utilizing Timelapse Imaging in Conjunction With Preimplantation Genetic Testing for Aneuploidy With Next Generation Sequencing

The goal of this observational study is to discern if there is a relationship between timelapse imagery of human oocytes/embryos and PGT results. Embryos of patients that are undergoing PGT will be placed into a timelapse incubator. The data obtained by the timelapse incubator will be used in conjunction with the PGT data to determine any relationships.

GEM: Impact of a Video Education Tool on Decisional Conflict Among Prenatal Patients

The goal of this randomized clinical trial is to assess the impact of a video educational tool on patient decisional conflict at the time when making a decision about prenatal genetic testing. The control group will receive standard prenatal care. The secondary aims include assessing the impact of the video educational tool versus standard care on pregnant participants': perception of likelihood of having a baby affected by a genetic problem, intended plan for genetic testing, patient-provider communication, retention of prenatal genetics knowledge, and perception of genetic data privacy. Participants will be asked to: 1. Watch video education (if randomized to this group) and complete a baseline survey at their dating ultrasound regarding knowledge of prenatal genetics, prior experiences, and demographics 2. Complete a follow up survey after seeing their prenatal care provider regarding: decisional conflict scale with respect to prenatal genetic testing decision (primary outcome), perception of likelihood of having a baby affected by a genetic problem (secondary outcome) and the type of genetic testing chosen (secondary outcome). 3. Complete a second follow up survey six to ten weeks from the second survey to assess: Provider patient communication, retention of genetics knowledge, patient recollection of testing performed, and self-reported out of pocket cost related to genetic testing.

Non-Euploid Embryo Transfer (NEET) Registry

The NEET Registry is a registry to track and study the outcomes of non-euploid embryo transfers (NEET) in The Prelude Network

Danish Prognostic Research on Embryonic Diagnostics Involving Chromosomal Testing.

The study aim is to evaluate whether testing embryos for chromosomal abnormalities (known as aneuploidy) can aid in embryo selection. If so, transfer of embryos that will fail to implant, miscarry or lead to birth of affected children, can be reduces. This would reduce the risk of miscarriage and increase the chance of healthy live birth per embryo transfer, which in turn would reduce the time and economical, physical and psychological cost associated with fertility treatment. The method of genetically testing embryos for aneuploidy is know as preimplantation genetic testing for aneuploidy (PGT-A). It entails testing a biopsy from preimplantation embryos generated from assisted reproductive technology (ART) from which DNA can be analyzed. Another potential source of embryonic DNA is the spent culture media, the media in which the embryo has grown since the egg was fertilized with the sperm. Previous research suggest that the media contains DNA shed from the embryo during development. Hence, this a potential non-invasive way of obtaining DNA for PGT-A. Both embryo biopsy and spent culture media will be assessed in the study. The study will be conducted as a prospective, blinded, prognostic cohort study in a cohort receiving preimplantation genetic testing for monogenic disorders (PGT-M). Hence, the study does not include an intervention, as data on aneuploidy is collected but not used to guide embryo selections and embryos are biopsied as part of standard care (PGT-M). Once clinical outcomes from embryo transfers has been collected from the study, the aneuploidy data will be assessed. Blinded towards the actual clinical outcome, predictions on whether each embryo would result in live birth or not will be made based on the aneuploidy results. Following prediction, actual clinical outcomes are revealed allowing calculation of predictive values. Predictive values will be calculated for PGT-A on embryos biopsies and spent culture media. Two predictive values will be assessed. The positive predictive value (PPV) and the negative predictive value (NPV). The PPV states how often an embryo predicted to result in live birth upon transfer actually did so. Numerous factors affect the chance of live birth besides aneuploidy, so while the PPV will never reach 100%, it should increase compared to the PPV of standard care (without testing for aneuploidy. The NPV states how often an embryo predicted not to result in live birth upon transfer actually also failed to do so. The NPV should be near 100 %, which would mean that all or almost all embryos that would have been deselected did not result in live birth. If the NPV is too low, it means that too many embryos capable of resulting in live birth are being discarded, disqualifying PGT-A for clinical use. With the predictive values assessed a proper evaluation of whether PGT-A should be used clinically can be made. A number of pre- and postnatal samples will be collected in the study to further validate PGT-A results. These include chorionic villus sampling, amniocentesis, Fetal cells isolated from maternal blood, products of conception and a DNA sample from the newborn. All of these samples can be consented to individually and as such are not required for participation in the study. Chorionic villus sampling and amniocenteses are only acquired if performed as part of routine care. The study is expected to include 540 transfers requiring the recruitment of approximately 220 patients. Recruitment is expected to take two years combined at the two centers in Denmark participating in the study.

Pregnancy and Developmental Outcomes After Transfer of Reportedly Aneuploid or Mosaic Embryos

To determine how often embryos reported to be abnormal by preimplantation genetic testing result in liveborn infants. To evaluate whether the pregnancies that result from these embryos are higher risk for complications and whether the resulting babies have higher risk for health or developmental issues in the first five years after birth.

PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood

This project aims to provide high- quality evidence to inform decisions by health care organisations about using first-tier non-invasive prenatal screening (NIPS) to replace traditional screening tests for trisomy 21, and potentially to screen for other fetal chromosome anomalies. We will compare the current screening approach of second-tier NIPS with the use of first-tier NIPS in a large cohort of pregnant women.

Microfluidic Chip vs Density Gradient Centrifugation on the Euploidy Rate of Pre-implantation Genetic Testing

Infertile women attending for PGT at the Centre of Assisted Reproduction and Embryology, Queen Mary Hospital and Kwong Wah Hospital will be recruited during ovarian stimulation for IVF. Subsequently, they will be randomly assigned on the day of oocyte retrieval by a laboratory staff into one of the following two groups in a 1:1 ratio : (1) the microfluidic chip group and (2) the density gradient centrifugation group for sperm preparation and subsequent use in fertilization. Other IVF procedures will be the same as the standard practice of the Centre. Both women and clinicians will be blinded from the group allocation i.e. a double blind study.