scholarly journals ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders†

2020 ◽  
Vol 2020 (3) ◽  
Author(s):  
Filipa Carvalho ◽  
Céline Moutou ◽  
Eftychia Dimitriadou ◽  
Jos Dreesen ◽  
Carles Giménez ◽  
...  
Keyword(s):  
Best Practice ◽  
De Novo ◽  
Single Gene ◽  
Good Practice ◽  
Hla Typing ◽  
Preimplantation Genetic Testing ◽  
Technical Aspects ◽  
Practice Recommendations ◽  
Pathogenic Variants ◽  
Special Cases

Abstract The field of preimplantation genetic testing (PGT) is evolving fast and best practice advice is essential for regulation and standardisation of diagnostic testing. The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary. The current paper provides recommendations on the technical aspects of PGT for monogenic/single-gene defects (PGT-M) and covers recommendations on basic methods for PGT-M and testing strategies. Furthermore, some specific recommendations are formulated for special cases, including de novo pathogenic variants, consanguineous couples, HLA typing, exclusion testing and disorders caused by pathogenic variants in the mitochondrial DNA. This paper is one of a series of four papers on good practice recommendations on PGT. The other papers cover the organisation of a PGT centre, embryo biopsy and tubing and the technical aspects of PGT for chromosomal structural rearrangements/aneuploidies. Together, these papers should assist scientists interested in PGT in developing the best laboratory and clinical practice possible.

scholarly journals ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT†

2020 ◽  
Vol 2020 (3) ◽  
Author(s):  
Georgia Kokkali ◽  
Giovanni Coticchio ◽  
Fernando Bronet ◽  
Catherine Celebi ◽  
Danilo Cimadomo ◽  
...  
Keyword(s):  
Best Practice ◽  
Single Gene ◽  
Polar Body ◽  
Good Practice ◽  
Diagnostic Testing ◽  
Embryo Biopsy ◽  
Preimplantation Genetic Testing ◽  
Technical Aspects ◽  
Practice Recommendations ◽  
Blastocyst Biopsy

Abstract The field of preimplantation genetic testing (PGT) is evolving fast, and best practice advice is essential for regulation and standardisation of diagnostic testing. The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary. The current paper provides recommendations on the technical aspects of embryo biopsy and covers recommendations on the biopsy procedure, cryopreservation and laboratory issues and training, in addition to technical aspects and strengths and limitations specific for currently used techniques at different stages (polar body, cleavage stage and blastocyst biopsy). Furthermore, alternative sampling methods are briefly described.This paper is one of a series of four papers on good practice recommendations on PGT. The other papers cover the organisation of PGT, and the different technical aspects of PGT for monogenic/single-gene defects (PGT-M) and PGT for chromosomal structural rearrangements/aneuploidies (PGT-SR/PGT-A). Together, these papers should assist everyone interested in PGT in developing the best laboratory and clinical practice possible.

scholarly journals ESHRE PGT Consortium good practice recommendations for the organisation of PGT†

2020 ◽  
Vol 2020 (3) ◽  
Author(s):  
Filipa Carvalho ◽  
Edith Coonen ◽  
Veerle Goossens ◽  
Georgia Kokkali ◽  
Carmen Rubio ◽  
...  
Keyword(s):  
Best Practice ◽  
Single Gene ◽  
Good Practice ◽  
Diagnostic Testing ◽  
Genetic Diagnosis ◽  
Information Provision ◽  
Embryo Biopsy ◽  
Preimplantation Genetic Testing ◽  
Gene Defects

Abstract The field of preimplantation genetic testing (PGT) is evolving fast, and best practice advice is essential for regulation and standardisation of diagnostic testing. The previous ESHRE guidelines on best practice for preimplantation genetic diagnosis, published in 2005 and 2011, are considered outdated and the development of new papers outlining recommendations for good practice in PGT was necessary. The current updated version of the recommendations for good practice is, similar to the 2011 version, split into four documents, one of which covers the organisation of a PGT centre. The other documents focus on the different technical aspects of embryo biopsy, PGT for monogenic/single-gene defects (PGT-M) and PGT for chromosomal structural rearrangements/aneuploidies (PGT-SR/PGT-A). The current document outlines the steps prior to starting a PGT cycle, with details on patient inclusion and exclusion, and counselling and information provision. Also, recommendations are provided on the follow-up of PGT pregnancies and babies. Finally, some further recommendations are made on the practical organisation of an IVF/PGT centre, including basic requirements, transport PGT and quality management. This document, together with the documents on embryo biopsy, PGT-M and PGT-SR/PGT-A, should assist everyone interested in PGT in developing the best laboratory and clinical practice possible.

scholarly journals ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations†

2020 ◽  
Vol 2020 (3) ◽  
Author(s):  
Edith Coonen ◽  
Carmen Rubio ◽  
Dimitra Christopikou ◽  
Eftychia Dimitriadou ◽  
Julia Gontar ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Best Practice ◽  
Good Practice ◽  
In Situ Hybridisation ◽  
Snp Array ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Fluorescence In Situ Hybridisation ◽  
Technical Aspects ◽  
Practice Recommendations

Abstract The field of preimplantation genetic testing (PGT) is evolving fast, and best practice advice is essential for regulation and standardisation of diagnostic testing. The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary. The current paper provides recommendations on the technical aspects of PGT for chromosomal structural rearrangements (PGT-SR) and PGT for aneuploidies (PGT-A) and covers recommendations on array-based comparative genomic hybridisation (aCGH) and next-generation sequencing (NGS) for PGT-SR and PGT-A and on fluorescence in situ hybridisation (FISH) and single nucleotide polymorphism (SNP) array for PGT-SR, including laboratory issues, work practice controls, pre-examination validation, preclinical work-up, risk assessment and limitations. Furthermore, some general recommendations on PGT-SR/PGT-A are formulated around training and general risk assessment, and the examination and post-examination process. This paper is one of a series of four papers on good practice recommendations on PGT. The other papers cover the organisation of a PGT centre, embryo biopsy and tubing and the technical aspects of PGT for monogenic/single-gene defects (PGT-M). Together, these papers should assist everyone interested in PGT in developing the best laboratory and clinical practice possible.

Writing a prescription: the law and good practice

2021 ◽  
Vol 13 (11) ◽  
pp. 472-475
Author(s):  
Alexandra Bowles
Keyword(s):  
Best Practice ◽  
Good Practice ◽  
Electronic Prescribing ◽  
Patient Access ◽  
Legal Requirements ◽  
Advantages And Disadvantages ◽  
Practice Recommendations ◽  
Independent Prescribing ◽  
Controlled Drugs ◽  
Improve Patient

Paramedic independent prescribing offers an opportunity to improve patient access to medications. However, incomplete, unclear or incorrectly written prescriptions can cause harm to patients. This article in the Prescribing Paramedic series considers: the legal requirements a prescription must meet for prescription-only medicines and controlled drugs; common errors that may occur during prescription writing and potential solutions; and best practice recommendations for prescribers to follow when writing a prescription to minimise errors. The advantages and disadvantages of electronic prescribing are discussed.

SCN8A and Its Related Epileptic Phenotypes

2021 ◽  
Author(s):  
Andrea Praticò ◽  
Carmela Gulizia ◽  
Gloria Gangi ◽  
Claudia Oliva ◽  
Catia Romano ◽  
...  
Keyword(s):  
De Novo ◽  
Wide Spectrum ◽  
Single Gene ◽  
Great Majority ◽  
Epileptic Encephalopathy ◽  
Specific Gene ◽  
Channel Blockers ◽  
Germline Mosaicism ◽  
Pathogenic Variants ◽  
Genetic Epilepsies

AbstractSodium channelopathies are among the most common single-gene causes of epilepsy and have been considered model disorders for the study of genetic epilepsies. Epilepsies due to SCN8A pathogenic variants can present with a broad range of phenotypes varying from a severe epileptic encephalopathy with multiple types of drug-resistant seizure to neurodevelopmental delay, mental retardation, and electroencephalogram (EEG) findings of multifocal spike and waves (mostly in the temporal/parietal/occipital areas). In rare cases, benign familial infantile seizures and developmental delay with/without ataxia have been reported. A first-level, specific SCN8A Sanger's sequencing, although available, is rarely performed because the clinical phenotype is not strictly characteristic and several overlaps with other genetic epilepsies may occur. Given its indistinctive phenotype, diagnosis is usually performed through a specific gene panel for epileptic encephalopathies, early epilepsies, or genetic epilepsy in general, or through whole exome sequencing (WES) and more rarely through whole genome sequencing (WGS). Mutations in SCN8A occur as an autosomal dominant trait. The great majority of individuals diagnosed with SCN8A epilepsy do not have an affected parent, because usually SCN8A patients do not reproduce, and mutations are inherited as a “de novo” trait. In rare cases, SCN8A mutations may be inherited in the setting of parental germline mosaicism. SCN8A-related epilepsies have not shown a clear genotype–phenotype correlation, the same variants have been described with different clinical expressivity and this could be due to other genetic factors or to interacting environmental factors. There is no standardized treatment for SCN8A-related epilepsy because of the rarity of the disease and the unavailability of specific, targeted drugs. Treatment is based mainly on antiepileptic drugs which include classic wide-spectrum drugs such as valproic acid, levetiracetam, and lamotrigine. Sodium-channel blockers (phenytoin, carbamazepine, oxcarbazepine, and lamotrigine) have shown appreciable results in terms of seizure reduction, in particular, in patients presenting gain-of-function mutations. Nowadays, new potentially transformative gene therapy treatment approaches are currently being explored, allowing in the next future, a precision-based treatment directed against the gene defect and protein alterations.

scholarly journals Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures

2021 ◽  
Author(s):  
Adam L. Numis ◽  
Gilberto da Gente ◽  
Elliott H. Sherr ◽  
Hannah C. Glass
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
De Novo ◽  
List Type ◽  
Sequencing Analysis ◽  
Neonatal Seizures ◽  
Pathogenic Variants ◽  
Targeted Analysis ◽  
Whole Exome ◽  
Epilepsy Gene

Abstract Background The contribution of pathogenic gene variants with development of epilepsy after acute symptomatic neonatal seizures is not known. Methods Case–control study of 20 trios in children with a history of acute symptomatic neonatal seizures: 10 with and 10 without post-neonatal epilepsy. We performed whole-exome sequencing (WES) and identified pathogenic de novo, transmitted, and non-transmitted variants from established and candidate epilepsy association genes and correlated prevalence of these variants with epilepsy outcomes. We performed a sensitivity analysis with genes associated with coronary artery disease (CAD). We analyzed variants throughout the exome to evaluate for differential enrichment of functional properties using exploratory KEGG searches. Results Querying 200 established and candidate epilepsy genes, pathogenic variants were identified in 5 children with post-neonatal epilepsy yet in only 1 child without subsequent epilepsy. There was no difference in the number of trios with non-transmitted pathogenic variants in epilepsy or CAD genes. An exploratory KEGG analysis demonstrated a relative enrichment in cell death pathways in children without subsequent epilepsy. Conclusions In this pilot study, children with epilepsy after acute symptomatic neonatal seizures had a higher prevalence of coding variants with a targeted epilepsy gene sequencing analysis compared to those patients without subsequent epilepsy. Impact We performed whole-exome sequencing (WES) in 20 trios, including 10 children with epilepsy and 10 without epilepsy, both after acute symptomatic neonatal seizures. Children with post-neonatal epilepsy had a higher burden of pathogenic variants in epilepsy-associated genes compared to those without post-neonatal epilepsy. Future studies evaluating this association may lead to a better understanding of the risk of epilepsy after acute symptomatic neonatal seizures and elucidate molecular pathways that are dysregulated after brain injury and implicated in epileptogenesis.

Illuminating the decision-making strategies of anesthesia providers in challenging cases

2020 ◽  
Vol 64 (1) ◽  
pp. 653-657
Author(s):  
Joshua Biro ◽  
David M. Neyens ◽  
Candace Jaruzel ◽  
Catherine D. Tobin ◽  
Myrtede Alfred ◽  
...  
Keyword(s):  
Decision Making ◽  
Work Environment ◽  
Medication Errors ◽  
Information Seeking ◽  
Best Practice ◽  
Practice Recommendations ◽  
Medication Delivery ◽  
Anesthesia Providers ◽  
Healthcare Work ◽  
Realistic View

Medication errors and error-related scenarios in anesthesia remain an important area of research. Interventions and best practice recommendations in anesthesia are often based in the work-as-imagined healthcare system, remaining under-used due to a range of unforeseen complexities in healthcare work-as- done. In order to design adaptable anesthesia medication delivery systems, a better understanding of clinical cognition within the context of anesthesia work is needed. Fourteen interviews probing anesthesia providers’ decision making were performed. The results revealed three overarching themes: (1) anesthesia providers find cases challenging when they have incomplete information, (2) decision-making begins with information seeking, and (3) attributes such as expertise, experience, and work environment influence anesthesia providers’ information seeking and synthesis of tasks. These themes and the context within this data help create a more realistic view of work-as-done and generate insights into what potential medication error reducing interventions should look to avoid and what they could help facilitate.

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