Aneuploidy in first trimester chorionic villi and spontaneous abortions: Windows into the origin and fate of aneuploidy through embryonic and fetal development.

Prenatal Diagnosis
Peter Benn, Francesca Romana Grati

Abstract

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. 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. 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, respectiv...Continue Reading

References

Jun 7, 2011·Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'obstétrique Et Gynécologie Du Canada : JOGC·Paul J YongWendy P Robinson
Aug 31, 2013·Genome Announcements·Yuan CaoCheng-Jin Hu
Dec 2, 2017·Fertility and Sterility·Francesca SpinellaErmanno Greco
Feb 13, 2018·Reproductive Biomedicine Online·Francesca Romana GratiYuval Yaron
May 3, 2019·Cellular and Molecular Life Sciences : CMLS·Martin KnöflerJoanna James
Jun 27, 2019·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·P BennF R Grati
Aug 1, 2019·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·Yan WangZhengfeng Xu
Aug 9, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Francesca Romana GratiFederico Prefumo
Oct 2, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jérôme ToutainRobert Saura
Oct 2, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Peter BennFrancesca Romana Grati

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Citations

Mar 16, 2021·Prenatal Diagnosis·Peter BennEugene Pergament
Oct 21, 2020·Prenatal Diagnosis·Howard Cuckle, Joan Morris
Jun 26, 2021·Prenatal Diagnosis·Peter Benn, Andrei Rebarber

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