Evaluation of a novel non-invasive preimplantation genetic screening approach

Kuznyetsov, Valeriy; Madjunkova, Svetlana; Antes, Ran; Abramov, Rina; Motamedi, Gelareh; Ibarrientos, Zenon; Librach, Clifford L.

doi:10.1371/journal.pone.0197262

Cited by 86 publications

(157 citation statements)

References 38 publications

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“…Massive parallel sequencing technology has increased the utilization possibilities of PGT together with promising developments in the use of non‐invasive PGT on cell‐free DNA from blastocyst fluid and spent media …”

Section: Discussionmentioning

confidence: 99%

“…The next big step in PGT will probably be the large‐scale introduction of non‐invasive embryo analysis techniques, where the potential for improvements in outcome and reduction in costs is great . Additionally, preconception carrier screening for selected Mendelian recessive diseases is emerging and, when implemented on a larger scale, this will increase the need for PGT and prenatal diagnosis.…”

Section: Discussionmentioning

confidence: 99%

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Preimplantation genetic testing legislation and accessibility in the Nordic countries

Hreinsson¹,

Lundin

Iwarsson

et al. 2020

Acta Obstet Gynecol Scand

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Introduction:Assisted reproduction technologies are being rapidly developed and implementation of preimplantation genetic testing (PGT) has allowed patients with genetic disorders to initiate pregnancies while minimizing or eliminating the risk of transmitting these disorders to their offspring. Testing for numeric chromosomal anomalies has been proposed as a way to increase efficacy in assisted reproduction; however, this remains disputed. Legislation is lagging behind the rapid developments in this field. Material and methods:We conducted a structured online survey of legislation and accessibility to preimplantation genetic testing in the Nordic countries to compare the regulation and uptake of this technique. The survey was designed and answered by the authors. Results: Key elements in the regulation of preimplantation testing for monogenic disorders and structural rearrangements are similar in the Nordic countries, although accessibility varies since only Denmark, Finland, and Sweden have national clinics offering treatment. In addition, Denmark and Finland have private clinics offering PGT. Regulation is the most stringent in Norway where a national board evaluates all couples seeking treatment. Treatment volumes vary between the Nordic countries, with Norway and Finland having lowest treatment numbers. Preimplantation genetic testing for aneuploidy in the embryo varies between the Nordic countries: Finland and Iceland allow this form of treatment, Denmark and Sweden offer it only in the form of a research protocol, and Norway does not allow it at all. Therefore the number of treatment cycles involving testing for embryo aneuploidy are lower in the Nordic countries than in other countries where this treatment option is more common. Conclusions: Science needs to inform politics regarding the rapidly evolving field of reproductive medicine and we recommend harmonization of legislation and accessibility between the Nordic countries. | 717 HREINSSON Et al.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Preimplantation genetic testing legislation and accessibility in the Nordic countries

Hreinsson¹,

Lundin

Iwarsson

et al. 2020

Acta Obstet Gynecol Scand

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“…Most, but not all, of the Nordic IVF‐laboratories are compliant in this respect. As noninvasive PGT by analyzing used culture media and/or blastocoel fluid is being introduced internationally, the importance of high laboratory standards becomes even more important and avoiding contamination of the samples by foreign DNA even more critical . During the time period of the study, two clinics did not perform biopsy in a special area dedicated for PGT, which is hardly in accordance with international guidelines and represents a risk of contamination.…”

Section: Discussionmentioning

confidence: 99%

Preimplantation genetic testing practices in the Nordic countries

Hreinsson¹,

Iwarsson

Hanson

et al. 2020

Acta Obstet Gynecol Scand

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Introduction: Preimplantation genetic testing (PGT) is growing in importance and volume internationally. International societies such as the European Society for Human Reproduction and Embryology compile international results and these data are published in scientific journals. We present the first compilation of practices, quality measuress and outcome data from Nordic clinics performing PGT. Material and methods: We conducted a structured online survey of PGT practices in the Nordic countries to compare clinical and laboratory techniques, outcomes and quality measures applied in Nordic clinics. The survey was designed by the authors and answered by the authors and members of the study group. The outcome data represents results from 2018. Results and details were clarified through iteration with responding clinics while maintaining anonymity. Response rate in the study was 80%, with 8 of 10 clinics performing PGT responding. Results: Most of the PGT cycles in the Nordic countries are funded through the public healthcare system with University Hospitals performing the majority of treatments, 716/848, or 84.4%, of oocyte retrievals in this dataset. The genetic analyses are in five cases performed by the affiliated local genetic laboratory, and the remaining three consult with large international private enterprise laboratories. Genetic counseling is widely used. Results in the Nordic clinics compare well with international data. Systematic quality control procedures are in place and the larger clinics and laboratories utilize ISO certification or accreditation in the quality management. Automatic witnessing with detailed electronic documentation of laboratory processes is not utilized in the responding clinics, although a majority uses manual witnessing procedures in the laboratory. The outcome after PGT in terms of clinical pregnancy per transfer is around 40% per embryo transfer and compares well with international data. Treatments offered FET PGT-M OP for PGT-M OPRs (95% CI) for PGT-M FET PGT-SR OP for PGT-SR OPRs (95% CI) for PGT-SR FET PGT-A OP for PGT-A OPRs (95% CI) for PGT-A Clinic 1 PGT-M/SR/A 5 3 60% (22-88) 4 3 75% (28-95) 25 12 48% (30-67) Clinic 2 PGT-M/SR 32 10 31% (18-49) 8 4 50% (21-79) 0 Clinic 3 PGT-M/SR a a a 163 57 35% (28-43) 0 Clinic 4 PGT-M/SR/A 5 2 40% (12-78) 5 2 40% (12-78) 27 8 30% (16-49) Clinic 5 PGT-M/SR 107 41 38% (30-48) 19 8 42% (23-64) 0 Clinic 6 PGT-M/SR/A 20 8 40% (22-62) 18 8 44% (24-67) 4 0 0 Clinic 7 PGT-A 0 0 18 12 67% (43-84) Clinic 8 PGT-M/SR 56 18 32% (21-45) 52 14 27% (17-40) 0Note: In PGT-SR chromosomal status is taken into account when selecting embryos for transfer even if the clinic otherwise does not offer PGT-A.

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“…The sample size ranged from seven (Shamonki et al, 2016;Liu et al, 2017) to 70 (Hammond et al, 2017) couples undergoing assisted reproductive technology procedures. Gamete fertilization was carried out mainly by intracytoplasmic sperm injection (ICSI) (86.7% [13 out of 15]) (Stigliani et al, 2013;Wu et al, 2015;Shamonki et al, 2016;Xu et al, 2016;Feichtinger et al, 2017;Hammond et al, 2017;Liu et al, 2017;Yang et al, 2017;Capalbo et al, 2018;Ho et al, 2018;Kuznyetsov et al, 2018;Li et al, 2018;Vera-Rodriguez et al, 2018) and the other two studies did not report the fertilization method Galluzzi et al, 2015). In 86.6% (13 out of 15) of studies, Cf-DNA from SCM alone was evaluated (Stigliani et al, 2013;Assou et al, 2014;Galluzzi et al, 2015;Wu et al, 2015;Shamonki et al, 2016;Xu et al, 2016;Feichtinger et al, 2017;Liu et al, 2017;Capalbo et al, 2018;Ho et al, 2018;Vera-Rodriguez et al, 2018), whereas a mixture of SCM and blastocoel fluid was assessed in 26.7% (four out of 15) of them (Hammond et al, 2017;Yang et al, 2017;Kuznyetsov et al, 2018;Li et al, 2018).…”

Section: Study Characteristicsmentioning

confidence: 99%

Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review

Brouillet

Martinez

Coutton

et al. 2020

Reproductive BioMedicine Online

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Spent culture medium (SCM) represents a possible source of embryonic DNA for non-invasive preimplantation genetic testing (PGT). Before considering routine clinical use, methodologies need to be improved to increase detection of embryo DNA in SCM while preventing contamination by exogenous and maternal DNA. The identification of DNA origin (in particular, maternal versus embryonic) is necessary for improved reliability of SCM-PGT. ABSTRACTPreimplantation genetic testing (PGT) is increasingly used worldwide. It currently entails the use of invasive techniques, i.e. polar body, blastomere, trophectoderm biopsy or blastocentesis, to obtain embryonic DNA, with major technical limitations and ethical issues. Evidence suggests that invasive PGT can lead to genetic misdiagnosis in the case of embryo mosaicism, and, consequently, to the selection of affected embryos for implantation or to the destruction of healthy embryos. Recently, spent culture medium (SCM) has been proposed as an alternative source of embryonic DNA. An increasing number of studies have reported the detection of cell-free DNA in SCM and highlighted the diagnostic potential of non-invasive SCM-based PGT for assessing the genetic status of preimplantation human embryos obtained by IVF. The reliability of this approach for clinical applications, however, needs to be determined. In this systematic review, published evidence on non-invasive SCM-based PGT is presented, and its current benefits and limitations compared with invasive PGT. Then, ways of optimizing and standardizing procedures for non-invasive SCM-based PGT to prevent technical biases and to improve performance in future studies are discussed. Finally, clinical perspectives of non-invasive PGT are presented and its future applications in reproductive medicine highlighted.

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Evaluation of a novel non-invasive preimplantation genetic screening approach

Cited by 86 publications

References 38 publications

Preimplantation genetic testing legislation and accessibility in the Nordic countries

Preimplantation genetic testing legislation and accessibility in the Nordic countries

Preimplantation genetic testing practices in the Nordic countries

Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review

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