Abstract
Viable trisomy 13 or 18 pregnancies may be supported by the presence of a diploid cell line, confined to the outer layer of the placenta (cytotrophoblast). To establish the presence of diploid cells we investigated five random biopsies from placentas of trisomy 13 (n=8) and trisomy 18 cases (n=6) of newborn infants and terminated pregnancies by means of fluorescence in situ hybridisation on interphase nuclei (n=100). In 12 of these 14 placentas (including all five liveborns) 80% or more of the analysed nuclei showed three spots, suggestive of the presence of a full trisomy. In the other two placentas (both cases of trisomy 18) mosaicism was detected at most investigated sites. Thus, in contrast with earlier studies, these results show that a significant diploid cell line present in the placenta, confined to the trophoblast, is not a pre-requisite for intrauterine survival in the investigated cases. .
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Schuring-Blom, G., Boer, K. & Leschot, N. A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies. Eur J Hum Genet 9, 286–290 (2001). https://doi.org/10.1038/sj.ejhg.5200631
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DOI: https://doi.org/10.1038/sj.ejhg.5200631