ESHRE PGD Consortium ‘Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’

Thornhill, Alan R.; deDie-Smulders, Christine E. M.; Geraedts, J. P. M.; Harper, Joyce; Harton, G.; Lavery, Stuart; Moutou, Céline; Robinson, Mark D.; Schmutzler, A. G.; Scriven, Paul N.; Sermon, Karen; Wilton, Leeanda

doi:10.1093/humrep/deh579

Cited by 399 publications

(258 citation statements)

References 76 publications

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“…The responses are compared to other sources, where available, 5,7,8 and to expert opinions obtained through interviews conducted with professionals in specific countries.…”

Section: Methodsmentioning

confidence: 99%

“…The need for thorough quality assurance in assisted reproduction has been underlined for clinics, laboratories and treatment procedures, with the suggestion that European providers should have a formal quality system. 3,4 Despite this call and the recent publication of voluntary best practice guidelines for PGD, 5,6 little information exists on current practice. In response to these concerns, the European Commission's Joint Research Centre launched a study in collaboration with EuroGentest and ESHRE (involving mainly the ESHRE PGD Consortium), in which a survey was conducted to assess the provision of PGD services in Europe, the access by patients and the current state of quality assurance.…”

Section: Introductionmentioning

confidence: 99%

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Provision and quality assurance of preimplantation genetic diagnosis in Europe

et al. 2007

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Preimplantation genetic diagnosis (PGD) is now well established and provided in many European countries. However, regulations, professional standards and accreditation requirements can differ notably. Furthermore, no comprehensive independent data exist either about practice and provision in Europe or about the quality assurance practices and procedures designed to optimize the quality of the results. Consequently, a study was launched to obtain knowledge, currently lacking, of the provision and quality assurance of PGD services and cross-border activities in Europe. An online questionnaire was developed and sent to PGD providers, and expert opinions were obtained through interviews with professionals in specific countries. Information was gathered from 53 centres offering PGD in 17 European countries. There is a diverse array of tests available, with a trend for custom-made services. Although half of the centres have a designated quality manager, just 33% have achieved or are preparing for accreditation or certification. About 66% of the centres responded that they did not participate in external quality assessment, a problem exacerbated by the lack of existing PGD-specific schemes. Approximately 19% of the centres do not keep data on accuracy and 9% do not even follow up until birth. PGD is an expanding activity with an increasing international flow that accounts for approximately one-third of the activity reported. The survey highlights a significant need for improvement in quality assurance in PGD centres. On the positive side, important improvements in the quality management of these services are expected with the European Tissue Directive entering into force.

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“…The responses are compared to other sources, where available, 5,7,8 and to expert opinions obtained through interviews conducted with professionals in specific countries.…”

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Provision and quality assurance of preimplantation genetic diagnosis in Europe

et al. 2007

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“…Technical and medical procedures should be at least in agreement with the guidelines of the European Society of Human Reproduction and Embryology (ESHRE). 57 CF carrier screening in individuals without a family history Attitudes regarding carrier screening in the general population differ between individual countries. In the United States, preconceptional carrier screening is recommended 23 and performed using a consensus panel of CF-causing mutations, 25 whereas in Europe, the situation is much more heterogeneous: 58 population screening was implemented in a number of different regional or national programmes, especially as prenatal screening, 59 -61 while it is not recommended in other countries.…”

Section: Recommendations For Pnd Practicementioning

confidence: 99%

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Dequeker

Stuhrmann

Morris³

et al. 2008

Eur J Hum Genet

213

160

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The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to provide both primary and comprehensive CFTR mutation screening, is stressed. Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing. Diagnostic flow charts now include testing in CFTR-related disorders and in fetal bowel anomalies. Emphasis is also placed on the need to consider ethnic or geographic origins of patients and individuals, on basic principles of risk calculation and on the importance of providing accurate laboratory reports. Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling.

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“…From each cleavage-stage embryo, one (4-7 cells) or two blastomeres (48 cell stage) were biopsied according to the ESHRE PGD guidelines. 20 Of 4-7 cell cleavage-stage embryos, only once cell was biopsied as this has been a general policy in our IVF centre for 415 years. Rationale for biopsying two cells is to increase the number of conclusive genetic results, in case of (partly) PCR failure.…”

Section: Ivf/icsi/pgd Proceduresmentioning

confidence: 99%

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

et al. 2013

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Preimplantation Genetic Diagnosis (PGD) is a method of testing in vitro embryos as an alternative to prenatal diagnosis with possible termination of pregnancy in case of an affected child. Recently, PGD for hereditary breast and ovarian cancer caused by BRCA1 and BRCA2 mutations has found its way in specialized labs. We describe the route to universal single-cell PGD tests for carriers of BRCA1/2 mutations. Originally, mutation-specific protocols with one or two markers were set up and changed when new couples were not informative. This route of changing protocols was finalized after 2 years with universal tests for both BRCA1 and BRCA2 mutation carriers based on haplotyping of, respectively, 6 (BRCA1) and 8 (BRCA2) microsatellite markers in a multiplex PCR. Using all protocols, 30 couples had a total of 47 PGD cycles performed. Eight cycles were cancelled upon IVF treatment due to hypostimulation. Of the remaining 39 cycles, a total of 261 embryos were biopsied and a genetic diagnosis was obtained in 244 (93%). In 34 of the 39 cycles (84.6%), an embryo transfer was possible and resulted in 8 pregnancies leading to a fetal heart beat per oocyte retrieval of 20.5% and a fetal heart beat per embryonic transfer of 23.5%. The preparation time and costs for set-up and validation of tests are minimized. The informativity of microsatellite markers used in the universal PGD-PCR tests is based on CEPH and deCODE pedigrees, making the tests applicable in 90% of couples coming from these populations.

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ESHRE PGD Consortium ‘Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’

Cited by 399 publications

References 76 publications

Provision and quality assurance of preimplantation genetic diagnosis in Europe

Provision and quality assurance of preimplantation genetic diagnosis in Europe

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

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