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Scientific Literature


A. Capalbo, G. de Wert, H. Mertes, L. Klausner, …, K. Sermon, N. Vermeulen, T. Lencz, and S. Carmi. Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations. Human Reproduction Update (2024).


M. Siermann, J.R. Vermeesch, T. Raivio, T., O. Tsuiko, P. Borry. Polygenic embryo screening: quo vadis?. J Assist Reprod Genet (2024). 

Y. Xia, M. Katz, …, and N. Siddiqui. First clinical validation of whole genome screening on standard trophectoderm biopsies of preimplantation embryos. F&S Reports (2024). (Orchid Health)

P. Ginod and M.H. Dahan. Preimplantation Genetic Testing for Polygenetic Conditions: A Legal, Ethical, and Scientific Challenge. Seminars in Reproductive Medicine (2024).

S. Li, T. Giardina, …, and B. Podgursky. Concordance of whole-genome amplified embryonic DNA with the subsequently born child (2024) (Orchid Health) *not peer reviewed*

X. Wu, J. Pan, Y. Zhu, and H. Huang. Research progress and challenges of preimplantation genetic testing for polygenic diseases. Journal of Zhejiang University (Chinese language publication) (2023)

M.A.P Zappala, L. Ariza, and N.S. Lima. Conceptualization of genotype–phenotype relationships and the assessment of risk in advertising of direct-to-consumer and preimplantation polygenic tests. Biosocieties (2023).

P. Ginod and M.H. Dahan. Polygenic embryo screening: are there potential maternal and fetal harms? Reproductive Biomedicine Online (2023). 

Y. Xia, V. Gonzalez-Pena, …, B. Behr, and C. Gawad. Genome-Wide Disease Screening of Early Human Embryos at Base-Pair Resolution (2022). (Orchid Health) *not peer reviewed*


A. Kumar, K. Im, …, P. C. Klatsky, and M. Rabinowitz. Whole-genome risk prediction of common diseases in human preimplantation embryos. Nature Medicine (2022). (MyOme)

Related: The alarming rise of complex genetic testing in human embryo selection Nature (Editorial; 2022).

Related: J. Johnston and L. J. Matthews. Polygenic embryo testing: understated ethics, unclear utility. Nature Medicine (News and Views; 2022).

Related: J. Cousin-Frankel. Scientists say they can read nearly the whole genome of an IVF-created embryo Science (News; 2022).

Related: Still doubts over embryo selection based on PGT for polygenic conditions. ESHRE Focus on Reproduction (2022).


N. R. Treff, J. Eccles, …, S. Hsu, and L. C. A. M. Tellier. Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction. Frontiers in Endocrinology (2019). (LifeView)

N. R. Treff, R. Zimmerman, …, S. Hsu, and L. C. A. M. Tellier. 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 Genetics (2019). (LifeView)

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