One hundred mosaic embryos transferred prospectively in a single clinic: exploring when and why they result in healthy pregnancies

一家诊所内前瞻性移植一百个嵌合体胚胎:探索它们何时以及为何能导致健康怀孕

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作者:Andrea R Victor, Jack C Tyndall, Alan J Brake, Laura T Lepkowsky, Alex E Murphy, Darren K Griffin, Rajiv C McCoy, Frank L Barnes, Christo G Zouves, Manuel Viotti

Objective

To investigate the parameters of mosaicism and the biological mechanisms leading to healthy pregnancies from mosaic embryo transfers. Design: Prospective study. Setting: IVF center and associated research laboratory. Patient(s): Fifty-nine patients. Intervention(s): Embryos underwent blastocyst-stage preimplantation genetic testing for aneuploidy by next-generation sequencing. Trophectoderm biopsies containing 20%-80% abnormal cells were deemed mosaic, and corresponding blastocysts were transferred. Mosaic embryos donated to research were examined for karyotype concordance in multiple biopsies and assessed for cell proliferation and death by immunofluorescence and computational quantitation. Main outcome measure(s): Chemical start of pregnancy, implantation, fetal heartbeat, and birth. Result(s): Globally, mosaic embryos showed inferior clinical outcomes compared with euploid embryos. Aneuploid cell percentage in trophectoderm biopsies did not correlate with outcomes, but type of mosaicism did, as embryos with single mosaic segmental aneuploidies fared better than all other types. Mosaic blastocysts generated from oocytes retrieved at young maternal ages (≤34 years) showed better outcomes than those retrieved at older maternal ages. Mosaic embryos displayed low rates of karyotype concordance between multiple biopsies and showed significant elevation of cell proliferation and death compared with euploid embryos.

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