2004
DOI: 10.1093/humupd/dmh005
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The development of cytogenetically normal, abnormal and mosaic embryos: a theoretical model

Abstract: Assisted reproduction and preimplantation genetic diagnosis (PGD) involve various complicated techniques, each of them with its own problems. However, the greatest problem with PGD for chromosome abnormalities is not of a technical nature but is a biological phenomenon: chromosomal mosaicism in the cleavage stage embryo. Here, we present a hypothetical, quantitative model for the development of chromosomally normal, abnormal and mosaic embryos. The arising of mosaicism in 2-8-cell embryos was described by a bi… Show more

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Cited by 103 publications
(60 citation statements)
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“…Mosaic aneuoploidy is a confounding factor when a day 3 embryo biopsy is performed for the purposes of undertaking PGS [48]. It has been argued that the first few cell division cycles during early embryonic development may be particularly sensitive to mitotic errors when all the necessary cell cycle check points are not activated and maternal cytoplasmic factors are needed during the early phase of embryonic development [44,49,50].…”
Section: Discussionmentioning
confidence: 99%
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“…Mosaic aneuoploidy is a confounding factor when a day 3 embryo biopsy is performed for the purposes of undertaking PGS [48]. It has been argued that the first few cell division cycles during early embryonic development may be particularly sensitive to mitotic errors when all the necessary cell cycle check points are not activated and maternal cytoplasmic factors are needed during the early phase of embryonic development [44,49,50].…”
Section: Discussionmentioning
confidence: 99%
“…In general it is assumed that day 3 embryos with greater than 50% mosaicism have limited developmental capacity and would be selected against following day 3 biopsy and culture to day 5 [21]. Los et al [48] have previously described the probability of biopsying a mosaic cell for the idealized situation of 8-cell embryos undergoing biopsy with the removal of one or two blastomeres. If, for example, an 8-cell embryo is 50% mosaic (ie, 4/4 diploid/aneuploid) and following biopsy is tagged "normal" resulting in a 57% mosaic (7 cells, 3/4 diploid/aneuploid embryo) there is likely a low probability that such an embryo continues normal development.…”
Section: Discussionmentioning
confidence: 99%
“…До 50-70% эмбрионов явля-ются анеуплоидными, представляя, таким образом, случаи нестабильного генома в результате мейотиче-ского нерасхождения [4,10,[32][33][34][35]. Однако подавля-ющее большинство анеуплоидных эмбрионов, веро-ятно, спонтанно абортируются на последующих стадиях развития [9,23,35].…”
Section: нестабильность соматического генома во время пренатального рunclassified
“…Однако подавля-ющее большинство анеуплоидных эмбрионов, веро-ятно, спонтанно абортируются на последующих стадиях развития [9,23,35]. Тем не менее, исследование преим-плантационных эмбрионов, которые демонстрируют геномную нестабильность на следующих онтогенетиче-ских стадиях, выявляет почти во всех образцах возникно-вение анеуплоидии или хромосомных аберраций, затра-гивающих не менее 20-50% клеток [8,32,36]. Уровень соматической нестабильности, вероятно, уменьша-ется в ходе пренатального развития за счет селектив-ного отбора в пользу нормальных диплоидных клеток [9,22].…”
Section: нестабильность соматического генома во время пренатального рunclassified
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