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Summary
❑ NON-MOSAIC abnormalities
❑ Mosaicism in ongoing pregnancies: 1 to 2% (~1.6%) ❑ TFM (10%)
❑ Trisomies 8, 9, 13, 18, 21 ❑ Gonosomes
❑ Surpernumerary markers
❑ CPM (90%)
❑ Subtypes 1, 2 & 3
❑ Type 3 CPM (meiotic) associated with IUGR, IUFD and neonatal hypotrophy (10%)
❑ Confirmation by amniocentesis not systematic ❑ Interpretation of NIPT
❑ Mosaicism in POCs ❑ Rare (~1%)
References
❑ Baffero et al., Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome. 2012 Prenat Diagn
❑ Grati et al., Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. 2006 Eur J Hum Genet
❑ Kalousek & Dill, Chromosomal mosaicism confined to the placenta in human conceptions. 1983 Science
❑ Malevestiti et al., Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis. 2015 Prenat Diagn
❑ Simpson & Carson, Genetic and Nongenetic Causes of Pregnancy Loss, 2013 Glob libr women’s med
❑ Taglauer et al., Review: cell-free fetal DNA in the maternal circulation as an indication of placental
❑ Toutain et al., Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3. 2010 Prenat Diagn
❑ Toutain et al., Comment on "Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome". 2013 Prenat Diagn
❑ Toutain et al., Confined placental mosaicism revisited: Impact on pregnancy characteristics and outcome. 2018 Plos One
❑ Wolstenholme, Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization. 1996 Prenat Diagn
health and disease. 2014 Placenta
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