Preimplantation genetic testing for aneuploidy (PGT‐A): The biology, the technology and the clinical outcomes

Homer, Hayden

doi:10.1111/ajo.12960

Cited by 38 publications

(42 citation statements)

References 49 publications

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“…CCS methods also have different thresholds for detecting segmental abnormalities and mosaicism. 3,28 NGS has been found to detect aneuploidy in a greater proportion of embryos than aCGH: 37% of stored TE biopsies initially diagnosed as euploid by aCGH were found to be abnormal when re-analysed using NGS. 29 It also has a higher detection rate for mosaicism, detecting mosaicism levels as low as 20% compared with 40-50% in aCGH.…”

Section: The Presentmentioning

confidence: 99%

“…29 It also has a higher detection rate for mosaicism, detecting mosaicism levels as low as 20% compared with 40-50% in aCGH. 28 Therefore, given its accurate results, high-throughput capacity and costefficiency, NGS has now become the most appropriate technology for PGT-A. 8,27 While these new techniques are superior to FISH, 9 there are some limitations.…”

Section: The Presentmentioning

confidence: 99%

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Pre‐implantation genetic testing for aneuploidy: the past, present and future

L’Heveder

Jones

Naja³

et al. 2020

The Obstetric & Gynaecologis

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Embryonic aneuploidy is often found in women undergoing assisted reproduction and is a common cause of poor outcomes, particularly in women of advanced maternal age and those with recurrent miscarriage and repetitive implantation failure. The aim of pre-implantation genetic testing for aneuploidy (PGT-A) is to select the most competent embryo for transfer, thus improving reproductive outcome. Initial PGT-A techniques failed to show an improvement in delivery rates and, in some trials, demonstrated inferior outcomes; however, advances in technology, combined with robust culture media and vitrification techniques, have significantly improved outcomes. Recent debate has argued for the increased clinical application of PGT-A, particularly in women of advanced maternal age; we provide an overview of PGT-A, including its past and associated limitations, the evolution in technology and latest outcomes, and address potential future implications. Learning objectives To understand the rationale behind the use of PGT-A. To review the evidence against and in favour of PGT-A. To understand the new techniques being used and how these have led to emerging evidence in favour of PGT-A. Ethical issues Risk of damage to embryos during biopsying process. PGT-A may result in either no embryos available for transfer or only embryos displaying mosaicism being available to transfer, with little long-term data on the outcomes of transferring mosaic embryos. PGT-A increases the cost of an already expensive treatment.

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Section: The Presentmentioning

confidence: 99%

Section: The Presentmentioning

confidence: 99%

Pre‐implantation genetic testing for aneuploidy: the past, present and future

L’Heveder

Jones

Naja³

et al. 2020

The Obstetric & Gynaecologis

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“…Preimplantation genetic testing to detect aneuploidy of embryo is increasingly popular all over the world. Preimplantation genetic testing for aneuploidy (PGT-A) biopsy approache includes biopsy of polar bodies from the oocyte 4,11 , biopsy of blastomeres from cleavage-stage embryo, or trophectoderm (TE) cells from blastocyst embryo 12,13 . However, the biopsy of polar bodies only contains DNA of oocytes (maternal contributions) and does not represent the DNA in the embryonic status.…”

Section: Introductionmentioning

confidence: 99%

Selecting euploid embryo for transfer by preimplantation genetic testing for aneuploidy improved clinical outcomes in patients with advanced maternal age

Phượng¹,

Thuc²,

Quan³

et al. 2019

Biomed. Res. Ther.

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Objectives: This study aimed to investigate whether selecting euploid embryos by preimplantation genetic testing for aneuploidy (PGT-A) can improve the clinical outcomes in patients with advanced maternal age. Hence, it provides evidence about the role of PGT-A in the treatment for patients with advanced maternal age in Vietnam. Methods: This is a retrospective cohort study, conducted at IVFMD, My Duc Hospital, Vietnam, from March 2017 to March 2019. There were 244 patients taking preimplantation genetic testing for aneuploidy (PGT-A group). Biopsy was performed at the blastocyst stage. On the day of biopsy, about 5-6 trophectoderm cells were collected and sent to analysis, while the remaining was individually vitrified to be used for embryo transfer to the patient. When patients had PGT-A, the clinician consulted and indicated the euploid embryo for frozen embryo transfer cycle. The ongoing pregnancy rate was compared with the group of patients who only performed blastocyst transfer (non-PGT-A group). Other outcomes, such as the average number of transferred embryos, clinical pregnancy rate, implantation rate, miscarriage rate and multiple pregnancy rate, were also compared between the two groups. Results: In the total of 493 patients fulfilled the inclusion criteria, there were 244 patients in PGT-A group and 249 patients in non-PGT-A group. The patient characteristics of the two groups were similar (p > 0.05). A total of 816 blastocysts were biopsied and 315 (38.6%) of these were aneuploidy. The ongoing pregnancy rate of PGT-A group was significantly higher than non-PGT-A group (43.9% vs. 32.1%, p = 0.01). Moreover, mean number of transferred embryos and multiple pregnancy rate of PGT-A group was lower than non-PGT-A group (1.3 vs. 2, p < 0.001; 5.7% vs. 12%, p < 0.001, respectively). Conclusions: In patients with advanced maternal age, the transfer of euploidy embryos selected by PGT-A improved the ongoing pregnancy rate and reduced the number of transferred embryos and multiple pregnancy rate. Therefore, this group of patients may benefit from PGT-A.

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“…So far there is no indication that embryo biopsy causes an increased risk for adverse neonatal outcome. (31).…”

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confidence: 99%

Birth of a healthy child fathered by a man with Klinefelter`s syndrome after preimplantation genetic testing

et al. 2021

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Introduction. The majority of Klinefelter syndrome cases with non-mosaic 47,XXY form have azoospemia and until recently they were considered completely infertile, with a markedly unfavorable and definitely poor male fertility prognosis. However, it has been confirmed that some non-mosaic patients have spermatozoa in the ejaculate deposition, although the form of severe oliogasthenoteratosoospermia is present in all of them. Although high fertilization rate with ICSI procedure using sperm from a non-mosaic patient and cumulative pregnancy rate following in-vitro fertilization constitutes 53%, the incidence of live birth rate after ICSI in cases of non-mosaic Klinefelter syndrome is very low. Case report. At the Clinic for Gynecology and Obstetrics of the Clinical Center of Vojvodina a successful in vitro fertilisation treatment was conducted in Klinefelter nonmosaic male, with the use of preimplantation genetic testing for embryo selection, and euploid embryo was transfered in the subsequent natural cycle. A healthy boy was born, delivery was spontaneous, vaginal, with head presentation , after 40 weeks and 3 days, by which Apgar scores were: 10/10, birth weight was 3950g and length 55cm. The psychomotor development scale of Brunet-Lézine was used when the boy reached 12 months of age and he was assessed as having normal psychomotor development. Conclusion. Due to the increased risk of chromosomal abnormalities in embryos (abnormalities of sex or autosomal chromosomes) from couples where a male partner is affected by Klinefelter syndrome, the use of preimplantation genetic testing involves selecting a chromosomally normal embryo which could shorten the time to the first live birth, decrease the risk of miscarriage and the chance of multiple pregnancy and its potential complications, reducing the need for invasive prenatal diagnostic procedures and the risks of some other complications, as well as the risk of late termination of pregnancy in case of pathological findings of the fetal karyotype using conventional diagnostics procedures.

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Preimplantation genetic testing for aneuploidy (PGT‐A): The biology, the technology and the clinical outcomes

Cited by 38 publications

References 49 publications

Pre‐implantation genetic testing for aneuploidy: the past, present and future

Pre‐implantation genetic testing for aneuploidy: the past, present and future

Selecting euploid embryo for transfer by preimplantation genetic testing for aneuploidy improved clinical outcomes in patients with advanced maternal age

Birth of a healthy child fathered by a man with Klinefelter`s syndrome after preimplantation genetic testing

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