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

Carvalho, Filipa; Moutou, Céline; Dimitriadou, Eftychia; Dreesen, Jos; Giménez, Carles; Goossens, V.; Kakourou, Georgia; Vermeulen, Nathalie; Zuccarello, Daniela; Rycke, Martine De

doi:10.1093/hropen/hoaa018

Cited by 89 publications

(55 citation statements)

References 14 publications

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“…Recently, the PGT consortium in collaboration with the ESHRE Special Interest Group Embryology issued four consensus papers on Recommendations for good practice in Preimplantation Genetic Testing ( ESHRE PGT Consortium Steering Committee, 2020 ; ESHRE PGT Consortium and SIG-Embryology Biopsy Working Group, 2020 ; ESHRE PGT-M Working Group, 2020 ; ESHRE PGT-SR/PGT-A Working Group, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

ESHRE PGT Consortium data collection XVI–XVIII: cycles from 2013 to 2015†

Coonen

Montfoort

Carvalho

et al. 2020

Human Reproduction Open

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STUDY QUESTION What are the trends and developments in preimplantation genetic testing (PGT) in 2013–2015 as compared to previous years? SUMMARY ANSWER The main trends observed in the retrospective data collections 2013–2015, representing valuable data on PGT activity in (mainly) Europe, are the increased application of trophectoderm biopsy at the cost of cleavage stage biopsy and the continuing expansion of comprehensive testing technology in PGT for chromosomal structural rearrangements and for aneuploidies (PGT-SR and PGT-A). WHAT IS KNOWN ALREADY Since it was established in 1997, the ESHRE PGT Consortium has been collecting data from international PGT centres. To date, 15 data sets and an overview of the first 10 years of data collections have been published. STUDY DESIGN, SIZE, DURATION Collection of (mainly) European data by the PGT Consortium for ESHRE. The data for PGT cycles performed between 1 January 2013 and 31 December 2015 were provided by participating centres on a voluntary basis. For the collection of cycle, pregnancy and baby data, separate, pre-designed MS Excel tables were used. PARTICIPANTS/MATERIALS, SETTING, METHODS Data were submitted by 59, 60 and 59 centres respectively for 2013, 2014 and 2015 (full PGT Consortium members). Records with incomplete or inconsistent data were excluded from the calculations. Corrections, calculations, figures and tables were made by expert co-authors. MAIN RESULTS AND THE ROLE OF CHANCE For data collection XVI/XVII/XVIII, 59/60/59 centres reported data on 8164/9769/11 120 cycles with oocyte retrieval: 5020/6278/7155 cycles for PGT-A, 2026/2243/2661 cycles for PGT for monogenic/single gene defects, 1039/1189/1231 cycles for PGT-SR and 79/59/73 cycles for sexing for X-linked diseases. From 2013 until 2015, the uptake of biopsy at the blastocyst stage was mainly observed in cycles for PGT-A (from 23% to 36%) and PGT-SR (from 22% to 36%), alongside the increased application of comprehensive testing technology (from 66% to 75% in PGT-A and from 36% to 58% in PGT-SR). LIMITATIONS, REASONS FOR CAUTION The findings apply to the 59/60/59 participating centres and may not represent worldwide trends in PGT. Data were collected retrospectively and no details of the follow-up on PGT pregnancies and babies born were provided. WIDER IMPLICATIONS OF THE FINDINGS Being the largest data collection on PGT worldwide, detailed information about ongoing developments in the field is provided. STUDY FUNDING/COMPETING INTEREST(S) The study has no external funding and all costs are covered by ESHRE. There are no competing interests declared. TRIAL REGISTRATION NUMBER N/A.

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Section: Introductionmentioning

confidence: 99%

ESHRE PGT Consortium data collection XVI–XVIII: cycles from 2013 to 2015†

Coonen

Montfoort

Carvalho

et al. 2020

Human Reproduction Open

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“…Exclusion testing recognizes the right of the parent not to know whether they are themselves affected while enabling them to have children not affected by the disease. Genetic implication counseling is a necessary part of the procedure [11]. Exclusion testing is indirect, based only on genetic markers, and involves the transfer of embryos carrying the haplotype derived from the non-affected grandparent.…”

Section: Indications For Pgt-mmentioning

confidence: 99%

“…PGT guidelines and recommendations for good practice have been designed by several international societies such as the PGD International Society (PGDIS), the American Society for Reproductive Medicine (ASRM), and the European Society for Human Reproduction and Embryology (ESHRE) PGT Consortium. The latter society has recently updated and extended four sets of recommendations, covering guidance on the organization of PGT service as well as technical guidance on embryo biopsy and genetic testing [9][10][11][12].…”

Section: Introductionmentioning

confidence: 99%

Preimplantation Genetic Testing for Monogenic Disorders

Rycke

Berckmoes

2020

Genes

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Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. In practice, the list of indications for which PGT is allowed may vary substantially from country to country, depending on PGT regulation. Technically, the switch from multiplex PCR to robust generic workflows with whole genome amplification followed by SNP array or NGS represents a major improvement of the last decade: the waiting time for the couples has been substantially reduced since the customized preclinical workup can be omitted and the workload for the laboratories has decreased. Another evolution is that the generic methods now allow for concurrent analysis of PGT-M and PGT-A. As innovative algorithms are being developed and the cost of sequencing continues to decline, the field of PGT moves forward to a sequencing-based, all-in-one solution for PGT-M, PGT-SR, and PGT-A. This will generate a vast amount of complex genetic data entailing new challenges for genetic counseling. In this review, we summarize the state-of-the-art for PGT-M and reflect on its future.

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“…However, when wild-type embryos are not available, such female embryos can be considered to transfer after the couples' understanding and accepting the risks. The detection of pathogenic variants is essential for PGT-M in parental mosaicism to lower false-positive results and increases the number of embryos for transfer (ESHRE PGT-M Working Group et al, 2020).…”

Section: Case1mentioning

confidence: 99%