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 The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary.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ESHRE guidelines on best practice for preimplantation genetic diagnosis, published in 2005 and 2011, are considered outdated and the development of new papers outlining recommendations for good practice in PGT was necessary.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 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 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.

scholarly journals Can expelled cells/debris from a developing embryo be used for PGT?

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Adva Aizer ◽  
Noa Harel-Inbar ◽  
Hagit Shani ◽  
Raoul Orvieto
Keyword(s):  
Zona Pellucida ◽  
Single Gene ◽  
Molecular Genetic ◽  
Embryo Biopsy ◽  
Human Embryos ◽  
Cell Debris ◽  
Preimplantation Genetic Testing ◽  
Blastomere Biopsy ◽  
Wide Range ◽  
Genetic Results

Abstract Background Preimplantation genetic testing (PGT) is offered to a wide range of structural and numerical chromosomal imbalances, with PGT- polymerase chain reaction (PCR), as the method of choice for amplifying the small DNA content achieved from the blastomere biopsy or trophectoderm (TE) biopsy, that might have a detrimental impact on embryonic implantation potential. Since human embryos cultured until Day-5–6 were noticed to expel cell debris/ fragments within the zona pellucida, we aimed to examine whether these cell debris/ fragments might be used for PGT, as an alternative to embryo biopsy. Methods Blastocysts, which their Day-3 blastomere biopsy revealed an affected embryo with single-gene defect, and following hatching leaved cell debris/fragments within the zona pellucida were analyzed. Each blastocyst and its corresponding cell debris/fragments were separated and underwent the same molecular analysis, based on multiplex PCR programs designed for haplotyping using informative microsatellites markers. The main outcome measure was the intra-embryo congruity of Day-3 blastomere biopsy and its corresponding blastocyst and cell debris/fragments. Results Fourteen affected embryos from 9 women were included. Only 8/14 (57.2%) of embryos demonstrated congruent molecular genetic results between Day-3 embryo and its corresponding blastocyst and cell debris/fragments. In additional 6/14 (42.8%) embryos, molecular results of the Day-3 embryos and their corresponding blastocysts were congruent, while the cell debris/fragments yielded no molecular diagnoses (incomplete diagnoses). Conclusions It might be therefore concluded, that in PGT cycles, examining the cell debris/fragments on Day-4, instead of Day-3 blastomere or Day-5 TE biopsies, is feasible and might avoid embryo biopsy with its consequent detrimental effect on embryos’ implantation potential. Whenever the latter results in incomplete diagnosis, TE biopsy should be carried out on Day-5 for final genetic results. Further large well-designed studies are required to validate the aforementioned PGT platform.

Gastroesophageal Reflux Disease: A Gastroenterologist's Perspective

2011 ◽  
Vol 21 (3) ◽  
pp. 89-99
Author(s):  
Michael F. Vaezi
Keyword(s):  
Gastroesophageal Reflux Disease ◽  
Gastroesophageal Reflux ◽  
Reflux Disease ◽  
Best Practice ◽  
Clinical Care ◽  
Diagnostic Testing ◽  
Diagnostic Tools ◽  
Swallowing Function ◽  
Atypical Symptoms

Gastroesophageal reflux disease (GERD) is a commonly diagnosed condition often associated with the typical symptoms of heartburn and regurgitation, although it may present with atypical symptoms such as chest pain, hoarseness, chronic cough, and asthma. In most cases, the patient's reduced quality of life drives clinical care and diagnostic testing. Because of its widespread impact on voice and swallowing function as well as its social implications, it is important that speech-language pathologists (SLPs) understand the nature of GERD and its consequences. The purpose of this article is to summarize the nature of GERD and GERD-related complications such as GERD-related peptic stricture, Barrett's esophagus and adenocarcinoma, and laryngeal manifestations of GERD from a gastroenterologist's perspective. It is critical that SLPs who work with a multidisciplinary team understand terminology, diagnostic tools, and treatment to ensure best practice.

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