The Science

Advancing IVF technology for successful pregnancies through unparalleled research and collaborations to improve the standards in the quality of testing and patient outcomes.

Genomic Prediction Clinical Laboratory

Testing Validation

Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform. European Journal of Medical GeneticsAugust 2019 Treff et al.

Embryo Health Score® Test

Polygenic Health Index, General Health, and Pleiotropy: Sibling Analysis and Disease Risk Reduction. Scientific ReportsOctober 2022 Widen et al.
Should preimplantation genetic testing for polygenic disease be offered to all - or none? Fertility & SterilityJune 2022 Treff et al.
Use of Polygenic Scores to Select Embryos. New England Journal of MedicineOctober 2021 Treff et al.
Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations. GenesJuly 2021 Tellier et al.
Preimplantation genetic testing for polygenic disease risk. Reproduction: The Official Journal of the Society for the Study of FertilityNovember 2020 Treff et al.
Polygenic risk scoring in the human embryo: reproductive genetics, final frontier? Fertility & Sterility ScienceAugust 2020 Treff
Preimplantation Genetic Testing for Polygenic Disease Relative Risk Reduction: Evaluation of Genomic Index Performance in 11,883 Adult Sibling Pairs. GenesJune 2020 Treff et al.
Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction. Frontiers in EndocrinologyDecember 2019 Treff et al.
Genomic Prediction of 16 Complex Disease Risks Including Heart Attack, Diabetes, Breast and Prostate Cancer. Scientific ReportsOctober 2019 Lello et al.
Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform. European Journal of Medical GeneticsAugust 2019 Treff et al.

Origin of Aneuploidy or PGT-A+

On the reproductive capabilities of aneuploid human preimplantation embryos. American Journal of Human GeneticsSeptember 2022 Capalbo A, Poli M, Jalas C, Forman EJ, Treff NR.
The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy. Fertility & SterilityNovember 2021 Treff and Marin.
Accurate genomic prediction of mosaicism through cell division origin of aneuploidy analysis in the preimplantation embryo. Fertility & SterilitySeptember 2021 Marin et al.
Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data. Prenatal DiagnosisApril 2021 Marin et al.
Isn't it time to stop calling preimplantation embryos "mosaic"? Fertility & Sterility ReportsNovember 2020 Paulson and Treff.

M2

A novel test for annexin A5 M2 haplotyping in in vitro fertilization patients and preimplantation embryos. Fertility & Sterility ScienceAugust 2021 Rana et al.

EHS / The Embryo Health Study

No longer recruiting patients

The Embryo Health Study is for individuals who are including preimplantation genetic testing for aneuploidy (PGT-A) as part of their IVF plan. Through this study, individuals may elect to obtain additional information about the chances for certain common conditions such as type 1 diabetes, breast cancer and coronary artery disease in their embryos. This information may be used to help decide which embryo to select for transfer. The goal of this study is to learn how this information may be used by patients and clinicians.

GETSET / GEnetic Testing in elective Single Embryo Transfer in women of advanced maternal age

Recruiting patients only at participating IVF centers

The GETSET study is for individuals between the ages of 35-40 undergoing IVF who wish to utilize PGTA (preimplantation genetic testing for aneuploidies) as part of their treatment. Participating individuals will undergo a single embryo transfer once randomized to a treatment or control group. The purpose of this study is to evaluate IVF cycle outcomes with and without utilization of PGTA. The data collected will benefit those undergoing IVF in the future.

The M2 Study / ANXA5 M2 Haplotyping in IVF Patients and Embryos

Recruiting patients only at participating IVF centers

The M2 clinical trial is for IVF patients who may have experienced recurrent pregnancy loss. Through this study, couples are eligible for free M2 Testing to obtain additional information about their carrier status for the M2 haplotype, a genetic variant that has been linked to placental mediated pregnancy complications and miscarriage. This information will help patients decide the best course of treatment. Carrier couples may elect for treatment with low molecular weight heparin (LMWH), alternatively complete PGT testing for the M2 haplotype on their embryos and select an embryo that is not a carrier for this mutation or may elect to take no further action. The goal of this study is to determine the impact of PGT testing for M2 in couples with specific medical histories.

If you have questions about these studies or would like to learn more about them, contact Clinical Research Nurse Talia Metzgar, RN
Genomic Prediction Laboratory Team
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