Preimplantation genetic screening: who benefits?

Kang, Hey-Joo; Melnick, A.P.; Stewart, Joshua; Xu, Kangpu; Rosenwaks, Zev

doi:10.1016/j.fertnstert.2016.04.027

Cited by 94 publications

(104 citation statements)

References 20 publications

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“…With reference embryo transfer, they found significant improvements in clinical pregnancy and live birth rates. With reference point cycle start, results, however, differed remarkably [33]: As already demonstrated by Mastenbroek et al with PGS 1.0 [18], here the authors reported significantly lower clinical pregnancy and live birth rates (21.5% and 19.9%) in comparison to non-PGS patients (49.5% and 39.8%). Similar results were also reported by Kushnir et al after reanalyzing U.S. national PGS outcome data, initially erroneously reported to demonstrate outcome advantages for PGS [34].…”

Section: Discussionmentioning

confidence: 50%

Is the hypothesis of preimplantation genetic screening (PGS) still supportable? A review

Gleicher

Orvieto

2017

J Ovarian Res

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The hypothesis of preimplantation genetic diagnosis (PGS) was first proposed 20 years ago, suggesting that elimination of aneuploid embryos prior to transfer will improve implantation rates of remaining embryos during in vitro fertilization (IVF), increase pregnancy and live birth rates and reduce miscarriages. The aforementioned improved outcome was based on 5 essential assumptions: (i) Most IVF cycles fail because of aneuploid embryos. (ii) Their elimination prior to embryo transfer will improve IVF outcomes. (iii) A single trophectoderm biopsy (TEB) at blastocyst stage is representative of the whole TE. (iv) TE ploidy reliably represents the inner cell mass (ICM). (v) Ploidy does not change (i.e., self-correct) downstream from blastocyst stage. We aim to offer a review of the aforementioned assumptions and challenge the general hypothesis of PGS. We reviewed 455 publications, which as of January 20, 2017 were listed in PubMed under the search phrase < preimplantation genetic screening (PGS) for aneuploidy>. The literature review was performed by both authors who agreed on the final 55 references. Various reports over the last 18 months have raised significant questions not only about the basic clinical utility of PGS but the biological underpinnings of the hypothesis, the technical ability of a single trophectoderm (TE) biopsy to accurately assess an embryo’s ploidy, and suggested that PGS actually negatively affects IVF outcomes while not affecting miscarriage rates. Moreover, due to high rates of false positive diagnoses as a consequence of high mosaicism rates in TE, PGS leads to the discarding of large numbers of normal embryos with potential for normal euploid pregnancies if transferred rather than disposed of. We found all 5 basic assumptions underlying the hypothesis of PGS to be unsupported: (i) The association of embryo aneuploidy with IVF failure has to be reevaluated in view how much more common TE mosaicism is than has until recently been appreciated. (ii) Reliable elimination of presumed aneuploid embryos prior to embryo transfer appears unrealistic. (iii) Mathematical models demonstrate that a single TEB cannot provide reliable information about the whole TE. (iv) TE does not reliably reflect the ICM. (v) Embryos, likely, still have strong innate ability to self-correct downstream from blastocyst stage, with ICM doing so better than TE. The hypothesis of PGS, therefore, no longer appears supportable. With all 5 basic assumptions underlying the hypothesis of PGS demonstrated to have been mistaken, the hypothesis of PGS, itself, appears to be discredited. Clinical use of PGS for the purpose of IVF outcome improvements should, therefore, going forward be restricted to research studies.

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Section: Discussionmentioning

confidence: 50%

Is the hypothesis of preimplantation genetic screening (PGS) still supportable? A review

Gleicher

Orvieto

2017

J Ovarian Res

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“…Embryos were cultured in inhouse culture media and were evaluated on the morning of day 5 [16] . Day 5 or 6 blastocyst stage embryos were graded based on criteria described by Gardner et al [17] , with some minor modifications [18] . All embryos receiving a grade of at least 2B-B-on day 5 or 6 were biopsied using protocols described by Kang et al [18] and subsequently cryopreserved by vitrification [19] .…”

Section: Clinical and Laboratory Protocolsmentioning

confidence: 99%

“…Day 5 or 6 blastocyst stage embryos were graded based on criteria described by Gardner et al [17] , with some minor modifications [18] . All embryos receiving a grade of at least 2B-B-on day 5 or 6 were biopsied using protocols described by Kang et al [18] and subsequently cryopreserved by vitrification [19] . Unaffected embryos were transferred in either natural or programmed embryo transfer (ET) cycles based on criteria described by Pereira et al [20] .…”

Section: Clinical and Laboratory Protocolsmentioning

confidence: 99%

Impact of <b><i>FMR1</i></b> Pre-Mutation Status on Blastocyst Development in Patients Undergoing Pre-Implantation Genetic Diagnosis

Hutchinson

Pereira

Lilienthal

et al. 2017

Gynecol Obstet Invest

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Background/Aims: The study aimed to investigate the impact of fragile X mental retardation 1 (FMR1) pre-mutation status on blastocyst development in patients undergoing pre-implantation genetic diagnosis (PGD). Methods: Case-control study of patients <40 years undergoing PGD at blastocyst stage for FMR1 pre-mutation status. Age-matched patients undergoing PGD for other single gene disorders were considered controls. Blastocyst development, calculated per metaphase II (MII) oocyte retrieved and per 2 pronuclear (2PN) embryos, was compared between the 2 groups. Pregnancy outcomes after embryo transfer were also compared. Results: Eighty-one and 791 patients were included in the FMR1 and control groups, respectively. FMR1 pre-mutation carriers had lower indicators of ovarian reserve, required higher gonadotropin doses, and had fewer MII oocytes retrieved. Mean blastocyst development per MII oocyte (12.6 vs. 29.4%; p < 0.001) and per 2PN embryos (21.5 vs. 41.7%; p < 0.001) was lower in the FMR1 group. An inverse correlation between the number of FMR1 CGG repeats and blastocyst development per MII oocyte (ρ = -0.63; p < 0.001) was observed. There was no difference in the rates of clinical pregnancy, spontaneous abortion, or live birth among the groups. Conclusion: Our study suggests lower rates of blastocyst development in patients with FMR1 pre-mutation status and an inverse correlation between the number of FMR1 CGG repeats and blastocyst development.

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“…With the progress made in scientific technologies such as array comparative genomic hybridization (aCGH), next generation sequencing (NGS) and trophectoderm biopsy, several randomized control trials (RCT) revealed that PGT‐A improved the live birth rate in limited populations with a favorable prognosis . However, several RCTs demonstrated no improvement in the live birth rate from its use . Although various studies on the effectiveness of PGT‐A have been reported, a clear consensus has not yet been reached .…”

Section: Introductionmentioning

confidence: 99%

Attitudes toward preimplantation genetic testing for aneuploidy among patients with recurrent pregnancy loss in Japan

Takeda

Sugiura‐Ogasawara

Ebara

et al. 2020

J of Obstet and Gynaecol

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Aim To examine attitudes toward preimplantation genetic testing for aneuploidy (PGT‐A) in patients with recurrent pregnancy loss (RPL) because it has been performed worldwide in spite of little evidence regarding whether it can improve the live birth rate and prevent miscarriage. There has been no study to examine attitudes toward PGT‐A in patients with RPL. Methods We conducted a cross‐sectional study that used a questionnaire to examine attitudes toward PGT‐A, the desire for PGT‐A and the factors associated with this desire in 386 patients with RPL between November 2014 and January 2019. Results Overall, 25.1% of patients desired PGT‐A and 35.2% answered that they knew about it. Regarding the reasons for wanting PGT‐A, 42.3% thought that it would insure a live birth and with complete case analysis, showed that the patients' wish for PGT‐A as a means of giving live birth was affected by their IVF‐ET history (adjusted odds ratio 2.7, 95% CI 1.2–7.2) and whether they had any knowledge of PGT‐A (2.4, 1.1–5.3). Those with a higher total family income (3.5, 1.2–10.1) and a previous IVF‐ET (4.6, 2.0–10.3) tended to want PGT‐A as a means of avoiding miscarriage. Conclusion The majority had no opinion or a poor knowledge of PGT‐A. More patients who self‐assessed as knowing about PGT‐A or who had undergone IVF‐ET had the above type of misunderstanding. Accurate and up‐to‐date information from facilities different from those in which PGT‐A is performed is necessary before reaching a decision on PGT‐A.

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Preimplantation genetic screening: who benefits?

Cited by 94 publications

References 20 publications

Is the hypothesis of preimplantation genetic screening (PGS) still supportable? A review

Is the hypothesis of preimplantation genetic screening (PGS) still supportable? A review

Impact of <b><i>FMR1</i></b> Pre-Mutation Status on Blastocyst Development in Patients Undergoing Pre-Implantation Genetic Diagnosis

Attitudes toward preimplantation genetic testing for aneuploidy among patients with recurrent pregnancy loss in Japan

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