Distinct patterns of autosomal trisomies were found in trophoblasts, mesenchyme, or both. Trisomies in both trophoblasts and mesenchyme resembled those in spontaneous abortions, and were associated with chromosome size and protein coding genes. The abnormalities seen in CVS differ from those reported in early embryos, with lineage-specific aneuploidy in trophoblasts, mesenchyme, and fetus from conception through birth.
Objective To review the mosaic autosomal trisomies in chorionic villi sample (CVS) trophoblasts, mesenchyme, and both cell lineages and to compare them with trisomies in spontaneous abortions. Methods Mosaic autosomal trisomies from 76 102 diagnostic CVS tests were classified as involving trophoblasts, involving mesenchyme, or present in both. Autosomal trisomies in products of conception were based on 18 published studies. We evaluated correlates between trisomy frequency with chromosome size or number of protein coding genes in the imbalance. Results Distinctly different patterns of trisomy were found in trophoblasts, mesenchyme, or both. In trisomic spontaneous abortions, there was a weak, borderline significant, inverse association between frequency and trisomic chromosome size and also with the number of protein coding genes involved (r = 0.43,P= 0.04 and r = 0.39,P= 0.07, respectively). These associations became stronger after excluding trisomy 16 (r = 0.52,P= 0.01 and r = 0.64,P= 0.001, respectively). Only CVS trisomies in both trophoblasts and mesenchyme resembled the trisomies found in spontaneous abortions and these were also associated with chromosome size and protein coding genes (r = 0.42,P= 0.05 and r = 0.57,P= 0.006, respectively). Conclusion The abnormalities seen in CVS differ from those reported in early embryos. From conception through birth, there are lineage-specific, evolving spectrums of aneuploidy in trophoblasts, mesenchyme, and fetus.
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