No abstract

The constant a priori risk for common pathogenic cryptic imbalances detected by this technology is estimated to be ~0.3%. A prevalence higher than that previously estimated was found for the 22q11.2 microdeletion. Their frequencies were independent of maternal age. These data have implications for cell-free DNA screening tests design and justify prenatal screening for 22q11 deletion, as early recognition of DGS improves its prognosis.

No abstract

The very large presented sample set and consistency in cytogenetic methodology, especially the analysis of both placental layers performed on all CV samples will enable genetic counselors to determine the risk of fetal involvement and the clinical relevance of an identified mosaic condition.

[1] Hyporheic exchanges in riparian zones induced by stream stage fluctuations, referred to as bank storage, can influence contaminant transport and transformation when mixing of groundwater and surface waters with distinct chemical signatures occur, which might lead to a high biochemical activity. The effect of bank storage on nutrient transport was analyzed here using a two-dimensional, variably saturated and multispecies reactive transport model, which accounted for the water flow and solute transport and reactions within riparian zones. After verification with field observations, our model demonstrated that high biogeochemical activities occurred at the near-stream riparian zone during stage fluctuation, a process referred to as bank storage hot moment (BSHM). We used Monte Carlo simulations to study the uncertainty of BSHM and related nutrient dynamics to biogeochemical and hydrological factors. À5 and SD ¼ 2.4 Â 10 À4 m min À1 ) was comparable to that of in-stream transient storage from the literature. This result suggests that BSHM may be a significant process contributing to the nutrient budget at the ecosystem level. Finally, a theoretical framework representing the coupled hydrobiogeochemical controls on riparian hot spots was developed to help predicting when BSHM can become important in a particular stream.