Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders

Objective

Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting of results, which can be shared with the genomics community to aid optimised standards of PGT services for couples.

Method

The EQAs were provided in two stages to mimic end-to-end protocols. Stage 1 involved DNA feasibility testing of a couple undergoing PGT and affected proband. Participants were required to report genotyping results and outline their embryo testing strategy. Lymphoblasts were distributed for mock embryo testing for stage 2. Submitted clinical reports and haplotyping results were assessed against peer-ratified criteria. Performance was monitored to identify poor performance.

Results

The most common testing methodology was short tandem repeat linkage analysis (59%); however, the adoption of single nucleotide polymorphism-based platforms was observed and a move from blastomere to trophectoderm testing. There was a variation in testing strategies, assigning marker informativity and understanding test limitations, some clinically unsafe. Critical errors were reported for genotyping and interpretation.

Conclusion

EQA provides an overview of the standard of preimplantation genetic testing-M clinical testing and identifies areas of improvement for accurate detection of high-risk embryos.     

Are politicians office or policy motivated? The case of U.S. governors' environmental policies

Are elected politicians primarily motivated by holding office, thus choosing environmental policies accordingly? Or are they motivated by the chance to implement their preferred environmental policies? Do governors have character, in the sense that they promise and implement environmental policies consistent with their own preferences? To answer these questions, we study the differences in environmental spending across both re-electable and lame duck governors from the two main political parties. In our empirical analysis, we make use of parametric and non-parametric regression-discontinuity approaches. While re-electable governors do not set significantly different policies, lame duck governors do. We argue that in the area of environmental policy governors appear to be primarily office motivated and lack character.     

The genes road: impact of migration on newborn screening and health amid the COVID-19 pandemic in the Eastern Mediterranean region

Environmental Science and Pollution Research - Nearly two-thirds of migrants residing in camps in Europe are women and children. Many of these children, being born on the way without essential...     

DDT residue in soil and water in and around abandoned DDT manufacturing factory

Dichlorodiphenyltrichloroethane (DDT) belongs to one of the most hazardous groups of chemicals called persistent organic pollutants. Many organochlorine pesticides including p,p(')-DDT are long lasting due to their non-degradability can travel to distant places and being fat soluble can accumulate in animals and human bodies. Due to the persistent nature of p,p(')-DDT, its adverse environmental and health impacts, the present study was undertaken to examine the residual p,p(')-DDT in and around abandoned p,p(')-DDT manufacturing factory in Amman Gharh, Nowshera, NWFP. Samples of soil, sediments and water were collected in and around the factory area, nearby p,p(')-DDT stores, main factory drain leading to river Kabul and nearby villages. Standard procedures were used for the collection, transportation and storage of samples for analyses. Extraction of each sample for p,p(')-DDT analyses was carried out in triplicates using Soxhelt extraction. p,p(')-DDT contents in the samples were analyzed by capillary GC with electron capture detector. Most of the samples collected up to half kilometer distance from the site of the DDT factory were found contaminated. Further the level of p,p(')-DDT decreased with increasing depth from top to bottom and with distance from the site. The results indicate that there is no immediate threat to underground water reservoirs.     

Quantitative estimation of essential/toxic elemental levels in the serum of esophagus cancer patients in relation to controls

Environmental Science and Pollution Research - Esophageal cancer is a very deadly disease ranking 8th most common cancer in terms of incidence and the 6th highest in terms of mortality both in the...