2006
DOI: 10.1038/sj.ejhg.5201564
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Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi

Abstract: Chromosome mosaicism is detected in about 1-2% of chorionic villi samples (CVS), and may be due to a postzygotic nondisjunction event generating a trisomic cell line in an initially normal conceptus (mitotic origin) or the postzygotic loss of one chromosome in an initially trisomic conceptus (meiotic origin and trisomy rescue). Depending on the distribution of the abnormal cell line, the mosaic can be confined to the placenta (CPM) or generalised to the fetus (TFM, true fetal mosaicism). Trisomy rescue could t… Show more

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Cited by 69 publications
(93 citation statements)
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“…respectively, be trisomic or normal as well. Not only the older literature, but also recent papers that are not included in the database confirm this finding as well [21,29,30]. However, in 3.3% (23/704) of cases, LTC-villi revealed a mosaic trisomy, which requires follow-up investigations in amniotic fluid, since in about half of the cases (12/23) the trisomy will be confined to the placenta (Table 2).…”
Section: Syncytiotrophoblastmentioning
confidence: 58%
“…respectively, be trisomic or normal as well. Not only the older literature, but also recent papers that are not included in the database confirm this finding as well [21,29,30]. However, in 3.3% (23/704) of cases, LTC-villi revealed a mosaic trisomy, which requires follow-up investigations in amniotic fluid, since in about half of the cases (12/23) the trisomy will be confined to the placenta (Table 2).…”
Section: Syncytiotrophoblastmentioning
confidence: 58%
“…They can be minimized, but not completely avoided, by combining short-term culture of chorionic villi with long-term culture, which is time-consuming and delays the cytogenetic result by around weeks. According to the study performed by Grati et al [23] , only in 50% of true fetal mosaicisms did the longterm CVs culture show the real karyotype of the fetus. Furthermore, in 40% of the confined placental mosaicism long-term culture shows an abnormal result that is not confirmed in amniotic fluid, increasing the anxiety of the patient for a very long period of time.…”
Section: Discussionmentioning
confidence: 99%
“…14,15 In the direct preparation technique, metaphases were obtained "directly" from spontaneously dividing in vivo cytotrophoblasts using the protocol originally developed by Simoni et al in 1983. 16 Mesenchymal core analysis was performed on cultured cells, as previously described.…”
Section: Original Research Articlementioning
confidence: 99%