Advances in Preimplantation Genetic Testing for Monogenic Disease and Aneuploidy

Annual Review of Genomics and Human Genetics
Nathan R Treff, Rebekah S Zimmerman

Abstract

Genetic testing of preimplantation embryos promises to prevent monogenic disease in children born to at-risk couples, the transfer of unbalanced embryos to patients carrying a balanced translocation, and the use of aneuploid embryos created during in vitro fertilization. Technologies have evolved from fluorescence in situ hybridization to next-generation-sequencing-based aneuploidy screening and allow for simultaneous testing of multiple genetic abnormalities in a single biopsy. The field has also shifted away from polar body or blastomere biopsy and toward trophectoderm biopsy as the new standard. This review describes the multitude of available platforms and methodologies used in contemporary preimplantation genetic testing.

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May 10, 2018·International Journal of Laboratory Hematology·C VrettouJ Traeger-Synodinos
Apr 11, 2018·Reproduction : the Official Journal of the Society for the Study of Fertility·Marc-André Sirard
Aug 10, 2019·Human Reproduction·Carlos Hernandez-NietoEric Flisser
Jun 24, 2020·Molecular Genetics & Genomic Medicine·Yanping XiXiaoxi Sun
May 29, 2020·Orphanet Journal of Rare Diseases·Lidiia ZhytnikKatre Maasalu
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Jan 27, 2021·Annual Review of Pathology·Theodore L Roth, Alexander Marson
Dec 6, 2017·Fertility and Sterility·Carlos Hernandez-NietoBenjamin Sandler

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Methods Mentioned

BETA
PCR
biopsy
genotyping
array technology
biopsies

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