Search

Abstract Optical genome mapping (OGM) offers high consistency in simultaneously detecting structural and copy number variants. This study aimed to retrospectively evaluate the efficacy and potential applications of OGM in preconception genetic counseling. Herein, 74 samples from 37 families were included, and their results of OGM were compared to conventional methods, namely karyotyping (KT) and chromosomal microarray analysis (CMA), which identified 27 variants across 16 positive families. Notably, OGM achieved a concordance rate of 94.7% and 100% with KT and CMA, respectively, presenting an overall concordance of 96.3%, as it missed detecting a centromeric translocation. Additionally, OGM detected two cryptic balanced translocations and a small deletion in three families that were missed by conventional methods, improving the diagnostic rate by 5.4%, along with assisting in the diagnoses of six families (16.2%) by identifying complex rearrangements and confirming cryptic translocations. The combination of KT with OGM yielded the highest diagnostic rate in all families. Overall, the findings of this study present the notable potential of OGM for its application, combined with KT per requirement, in clinical settings to improve the efficiency and accuracy of diagnoses and rapid screening of individuals seeking preconception genetic counseling.

A high concentration of potentially toxic elements (PTEs) can be frequently observed in the plastic processing sludge (PPS), thereby restricting its environmental applications. The main objective of this study was to investigate the effects of the co-pyrolysis of PPS and KH2PO4 (0, 5, 10 and 20 wt%) on the characteristics and environmental risks associated with the PTEs in PPS and derived chars. General characteristic analysis revealed that the char yield, ash content, pH, and particle size of the chars prepared with KH2PO4 were greater than those of the char prepared without KH2PO4 by 3.13–4.89 wt%, 2.95–4.4 wt%, 0.77–0.93, and 9.64–30.07 µm, respectively. The results of sequential extraction indicated that co-pyrolysis with KH2PO4 could considerably increase the distribution of PTEs in the F4 fraction (non-bioavailable) in PPS by 1.30–65.90% when compared with that obtained via co-pyrolysis with 5 wt% of KH2PO4. The toxic leaching tests indicated that the leaching concentrations of Cr, Ni, Cu, Zn, Cd, and Pb in the char prepared without KH2PO4 decreased to different extents when PPS was subjected to co-pyrolysis with KH2PO4, especially in case of co-pyrolysis with 5 wt% of KH2PO4. The range of decrease was 26.40–88.34%. However, in case of Cu, Zn, and Pb, the leaching concentration of the chars prepared with more than 10 wt% of KH2PO4 increased owing to the decomposition of (Cu Zn)PbVO4(OH) in an acidic environment. The results obtained using Hakanson’s equations revealed that the potential ecological risk associated with the PTEs in chars obtained by co-pyrolysis with KH2PO4 decreased, with a minimum decrease of 38.17%. In addition, the risk level associated with PPS reduced from considerable to low after co-pyrolysis with KH2PO4. The observations of this study imply that the co-pyrolysis of PPS with KH2PO4 can be a promising treatment for PTE immobilization.