Morphology of early intrauterine deaths with full trisomy 15

Philipp, Tom; Terry, Jefferson; Feichtinger, Michael; Grillenberger, Sandra; Hartmann, Beda; Jirecek, Stefan

doi:10.1002/pd.5230

Cited by 3 publications

(1 citation statement)

References 25 publications

(55 reference statements)

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“…Trisomy 21 is the most common viable trisomy, which affects approximately 1 out of 700 newborns 15 . Trisomy 15 and trisomy 16 typically lead to first trimester miscarriage 16 , where most trisomy 16 abortions show empty sacs or minimal development of the embryo, while trisomy 15 miscarriages have specific craniofacial, limb and umbilical cord structural defects 17,18 . We analyzed a total of 71 embryos with these specific aneuploidies: trisomy 21 (14 embryos), trisomy 15 (16 embryos), trisomy 16 (24 embryos), and monosomy 21 (17 embryos) 9 days after fertilization.…”

Section: Preimplantation Development Of Aneuploid Human Embryosmentioning

confidence: 99%

Developmental potential of aneuploid human embryos cultured beyond implantation

Shahbazi

Wang²,

Tao³

et al. 2020

Nat Commun

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Aneuploidy, the presence of an abnormal number of chromosomes, is a major cause of early pregnancy loss in humans. Yet, the developmental consequences of specific aneuploidies remain unexplored. Here, we determine the extent of post-implantation development of human embryos bearing common aneuploidies using a recently established culture platform. We show that while trisomy 15 and trisomy 21 embryos develop similarly to euploid embryos, monosomy 21 embryos exhibit high rates of developmental arrest, and trisomy 16 embryos display a hypo-proliferation of the trophoblast, the tissue that forms the placenta. Using human trophoblast stem cells, we show that this phenotype can be mechanistically ascribed to increased levels of the cell adhesion protein E-CADHERIN, which lead to premature differentiation and cell cycle arrest. We identify three cases of mosaicism in embryos diagnosed as full aneuploid by pre-implantation genetic testing. Our results present the first detailed analysis of post-implantation development of aneuploid human embryos.

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Section: Preimplantation Development Of Aneuploid Human Embryosmentioning

confidence: 99%