Genetic diseases and aneuploidies can be detected with a single blastocyst biopsy: a successful clinical approach

Minasi, Maria Giulia; Fiorentino, Francesco; Ruberti, Alessandra; Biricik, Anıl; Cursio, Elisabetta; Cotroneo, Ettore; Varricchio, Maria Teresa; Surdo, Matteo; Spinella, Francesca; Greco, Ermanno

doi:10.1093/humrep/dex215

Cited by 38 publications

(32 citation statements)

References 35 publications

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“…In PGD programs it is not uncommon for embryos to fail genetic testing, and in our own clinic we have previously reported a failure rate of 5.0% from more than 5,000 PGS blastocysts with the use of CGH or NGS (17). This is similar to others, including Capalbo et al who reported a failure rate of 2.7% from almost 1,000 PGS blastocysts with the use of CGH (24) and Minasi et al who reported a failure rate of 4.9% from 1,122 blastocysts screened for inherited genetic disorders in combination with PGS using CGH (25). We therefore also examined the impact of performing a second blastocyst biopsy because of failed genetic testing.…”

Section: Discussionsupporting

confidence: 80%

Impact of multiple blastocyst biopsy and vitrification-warming procedures on pregnancy outcomes

Bradley¹,

Livingstone²,

Traversa³

et al. 2017

Fertility and Sterility

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Section: Discussionsupporting

confidence: 80%

Impact of multiple blastocyst biopsy and vitrification-warming procedures on pregnancy outcomes

Bradley¹,

Livingstone²,

Traversa³

et al. 2017

Fertility and Sterility

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“…Title and abstract screening resulted in 73 papers. Full text screening resulted in 26 publications fulfilling the inclusion criteria . No randomized controlled trials were identified.…”

Section: Resultsmentioning

confidence: 99%

“…In one study, embryo transfer was performed in 81% of cycles (1688/2084) in the control group not receiving aneuploidy screening while only 67% of cycles had transferable embryos following screening for aneuploidy (212/317) . In another study, of 304 cycles, 71% of cycles had suitable embryos for transfer following PGT‐M/SR, which was reduced to 60% following aneuploidy screening . Minasi et al reported the percentage of cycles with no transferable embryos following aneuploidy screening to be similar in patients affected by monogenic disorders and structural rearrangements.…”

Section: Resultsmentioning

confidence: 99%

“…One publication reported mosaicism on a per chromosome level only . The remaining five publications reported on mosaicism ranging from 0% (0/175 and 0/18 embryos) to 10.8% (11/102 embryos), with the two largest studies reporting 3.7 (42/1122 embryos) and 6.8% (44/646) . Three of the six studies detail their classification and transfer policy with respect to mosaic embryos, with two never transferring mosaic embryos, and one considering mosaic embryos for transfer if there were no euploid embryos available and the level of mosaicism was 40% or less .…”

Section: Resultsmentioning

confidence: 99%

“…Three of the six studies detail their classification and transfer policy with respect to mosaic embryos, with two never transferring mosaic embryos, and one considering mosaic embryos for transfer if there were no euploid embryos available and the level of mosaicism was 40% or less . The remaining three studies do not detail their classification of or transfer policy with respect to mosaic embryos …”

Section: Resultsmentioning

confidence: 99%

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A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

Toft

Ingerslev

Kesmodel

et al. 2020

Acta Obstet Gynecol Scand

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Introduction:In assisted reproductive technology, aneuploidy is considered a primary cause of failed embryo implantation. This has led to the implementation of preimplantation genetic testing for aneuploidy in some clinics. The prevalence of aneuploidy and the use of aneuploidy screening during preimplantation genetic testing for inherited disorders has not previously been reviewed. Here, we systematically review the literature to investigate the prevalence of aneuploidy in blastocysts derived from patients carrying or affected by an inherited disorder, and whether screening for aneuploidy improves clinical outcomes. Material and methods:PubMed and Embase were searched for articles describing preimplantation genetic testing for monogenic disorders and/or structural rearrangements in combination with preimplantation genetic testing for aneuploidy. Original articles reporting aneuploidy rates at the blastocyst stage and/or clinical outcomes (positive human chorionic gonadotropin, gestational sacs/implantation rate, fetal heartbeat/clinical pregnancy, ongoing pregnancy, miscarriage, or live birth/delivery rate on a per transfer basis) were included. Case studies were excluded. Results:Of the 26 identified studies, none were randomized controlled trials, three were historical cohort studies with a reference group not receiving aneuploidy screening, and the remaining were case series. In weighted analysis, 34.1% of 7749 blastocysts were aneuploid. Screening for aneuploidy reduced the proportion of embryos suitable for transfer, thereby increasing the risk of experiencing a cycle without transferable embryos. In pooled analysis the percentage of embryos suitable for transfer was reduced from 57.5% to 37.2% following screening for aneuploidy. Among historical cohort studies, one reported significantly improved pregnancy and birth rates but did | 697 TOFT eT al. K E Y W O R D Saneuploidy screening, clinical outcomes, comprehensive chromosome screening, preimplantation genetic diagnosis-preimplantation screening, preimplantation genetic testing, systematic review Key messageOne-third of embryos derived from patients carrying or affected by an inherited disorder are aneuploid. Hence, prioritizing embryos by ploidy status should in theory improve clinical success rates per transfer. The design and quality of the current available data do not allow a conclusion to be drawn with respect to a clinical effect.

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Preliminary analysis of numerical chromosome abnormalities in reciprocal and Robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray

Xie

Wang

et al. 2017

J Assist Reprod Genet

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There was not enough evidence to prove that ICE was present in embryos derived from both rcp and RT translocation carriers, regardless of the maternal age. However, chromosomal numerical abnormalities were noticed in 23 pairs of autosomes and sex chromosomes in parental structurally normal chromosomes. Thus, 24-chromosomal analysis with an aCGH/SNP microarray PGD protocol is required to decrease the risks of failure to diagnose aneuploidy in structurally normal chromosomes.

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Genetic diseases and aneuploidies can be detected with a single blastocyst biopsy: a successful clinical approach

Abstract: Not applicable.

Cited by 38 publications

References 35 publications

Impact of multiple blastocyst biopsy and vitrification-warming procedures on pregnancy outcomes

Impact of multiple blastocyst biopsy and vitrification-warming procedures on pregnancy outcomes

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

Preliminary analysis of numerical chromosome abnormalities in reciprocal and Robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray

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