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https://www.readbyqxmd.com/read/30506192/aneuploidy-screening-using-next-generation-sequencing
#1
Cengiz Cinnioglu, Refik Kayali, Tristan Darvin, Adedoyin Akinwole, Milena Jakubowska, Gary Harton
Chromosomal aneuploidy is recognized to be a significant contributing factor in implantation failure and spontaneous miscarriage Hellani et al. (Reprod Biomed Online 17:841-847, 2008), Vanneste et al. (Nat Med 15:577-583, 2009) and is likely to be responsible for the majority of IVF failure [Baltaci et al. (Reprod Biomed Online 12:77-82, 2006), Munne (Placenta 24:S70-76, 2003)]. Preimplantation genetic testing for aneuploidy (PGT-A) screening, formerly termed preimplantation genetic screening (PGS), enables the assessment of the numeric chromosomal constitution in blastomere and/or trophectoderm biopsy before embryo transfer...
2019: Methods in Molecular Biology
https://www.readbyqxmd.com/read/30500907/to-test-or-not-to-test-a-framework-for-counselling-patients-on-preimplantation-genetic-testing-for-aneuploidy-pgt-a
#2
Lauren A Murphy, Emily A Seidler, Denis A Vaughan, Nina Resetkova, Alan S Penzias, Thomas L Toth, Kim L Thornton, Denny Sakkas
STUDY QUESTION: What is the treatment path and cumulative live birth (CLB) rate from a single oocyte retrieval of patients who intend to pursue PGT-A at the start of an IVF cycle compared to matched controls? SUMMARY ANSWER: The choice of PGT-A at the start of the first IVF cycle decreases the CLB per oocyte retrieval for patients <38 years of age, however patients ≥38 years of age benefit significantly per embryo transfer (ET) when live birth (LB) is evaluated...
November 30, 2018: Human Reproduction
https://www.readbyqxmd.com/read/30476100/is-more-better-a-higher-oocyte-yield-is-independently-associated-with-more-day-3-euploid-embryos-after-icsi
#3
Christos A Venetis, Liza Tilia, Erin Panlilio, Andrew Kan
STUDY QUESTION: Is the number of oocytes retrieved after ovarian stimulation for ICSI independently associated with the number of day-3 euploid embryos (EE)? SUMMARY ANSWER: A larger oocyte yield is independently associated with more day-3 EE, although the expected benefit decreases significantly with advancing age. WHAT IS KNOWN ALREADY: Although traditionally ovarian stimulation aims at collecting more than one oocyte in order to increase the chance of pregnancy, there is evidence suggesting that excessive ovarian response leads to lower live birth rates...
November 24, 2018: Human Reproduction
https://www.readbyqxmd.com/read/30418565/assessment-of-aneuploidy-concordance-between-clinical-trophectoderm-biopsy-and-blastocyst
#4
Andrea R Victor, Darren K Griffin, Alan J Brake, Jack C Tyndall, Alex E Murphy, Laura T Lepkowsky, Archana Lal, Christo G Zouves, Frank L Barnes, Rajiv C McCoy, Manuel Viotti
STUDY QUESTION: Is a clinical trophectoderm (TE) biopsy a suitable predictor of chromosomal aneuploidy in blastocysts? SUMMARY ANSWER: In the analyzed group of blastocysts, a clinical TE biopsy was an excellent representative of blastocyst karyotype in cases of whole chromosome aneuploidy, but in cases of only segmental (sub-chromosomal) aneuploidy, a TE biopsy was a poor representative of blastocyst karyotype. WHAT IS KNOWN ALREADY: Due to the phenomenon of chromosomal mosaicism, concern has been expressed about the possibility of discarding blastocysts classified as aneuploid by preimplantation genetic testing for aneuploidy (PGT-A) that in fact contain a euploid inner cell mass (ICM)...
November 12, 2018: Human Reproduction
https://www.readbyqxmd.com/read/30388233/fresh-versus-elective-frozen-embryo-transfer-in-ivf-icsi-cycles-a-systematic-review-and-meta-analysis-of-reproductive-outcomes
#5
Matheus Roque, Thor Haahr, Selmo Geber, Sandro C Esteves, Peter Humaidan
BACKGROUND: Elective freezing of all good quality embryos and transfer in subsequent cycles, i.e. elective frozen embryo transfer (eFET), has recently increased significantly with the introduction of the GnRH agonist trigger protocol and improvements in cryo-techniques. The ongoing discussion focuses on whether eFET should be offered to the overall IVF population or only to specific subsets of patients. Until recently, the clinical usage of eFET was supported by only a few randomized controlled trials (RCT) and meta-analyses, suggesting that the eFET not only reduced ovarian hyperstimulation syndrome (OHSS), but also improved reproductive outcomes...
November 2, 2018: Human Reproduction Update
https://www.readbyqxmd.com/read/30383227/genome-wide-haplotyping-embryos-developing-from-0pn-and-1pn-zygotes-increases-transferrable-embryos-in-pgt-m
#6
Aspasia Destouni, Eftychia Dimitriadou, Heleen Masset, Sophie Debrock, Cindy Melotte, Kris Van Den Bogaert, Masoud Zamani Esteki, Jia Ding, Thiery Voet, Ellen Denayer, Thomy de Ravel, Eric Legius, Christel Meuleman, Karen Peeraer, Joris R Vermeesch
STUDY QUESTION: Can genome-wide haplotyping increase success following preimplantation genetic testing for a monogenic disorder (PGT-M) by including zygotes with absence of pronuclei (0PN) or the presence of only one pronucleus (1PN)? SUMMARY ANSWER: Genome-wide haplotyping 0PNs and 1PNs increases the number of PGT-M cycles reaching embryo transfer (ET) by 81% and the live-birth rate by 75%. WHAT IS KNOWN ALREADY: Although a significant subset of 0PN and 1PN zygotes can develop into balanced, diploid and developmentally competent embryos, they are usually discarded because parental diploidy detection is not part of the routine work-up of PGT-M...
December 1, 2018: Human Reproduction
https://www.readbyqxmd.com/read/30362056/minimizing-mosaicism-assessing-the-impact-of-fertilization-method-on-rate-of-mosaicism-after-next-generation-sequencing-ngs-preimplantation-genetic-testing-for-aneuploidy-pgt-a
#7
Katherine L Palmerola, Sally F Vitez, Selma Amrane, Catha P Fischer, Eric J Forman
PURPOSE: Advances in preimplantation genetic testing (PGT) have led to practice changes in assisted reproductive technologies (ART), enabling fertility centers to transfer single embryos while maintaining excellent ongoing pregnancy rates, reducing miscarriage rates, and dramatically reducing ART-associated multiple pregnancies. The introduction of next-generation sequencing (NGS) allows PGT laboratories to assess for embryo mosaicism-although the true incidence and reproductive potential of predicted mosaic embryos are controversial...
October 25, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/30334131/decision-making-surrounding-the-use-of-preimplantation-genetic-testing-for-aneuploidy-reveals-misunderstanding-regarding-its-benefit
#8
Molly M Quinn, Flor Juarez-Hernandez, Molly Dunn, Richard Jason Okamura, Marcelle I Cedars, Mitchell P Rosen
PURPOSE: We aimed to explore how patients make decisions regarding use of preimplantation genetic testing for aneuploidy (PGT-A) for in vitro fertilization (IVF). METHODS: This is a cross-sectional survey at an academic medical center. Three hundred subjects initiating an IVF cycle over 8 weeks were asked to complete a validated survey to determine how they decided whether or not to pursue PGT-A. All patients were previously counseled that the primary goal of PGT-A is to maximize pregnancy rates per embryo transfer...
October 18, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/30328573/the-number-of-biopsied-trophectoderm-cells-may-affect-pregnancy-outcomes
#9
Luis Guzman, D Nuñez, R López, N Inoue, J Portella, F Vizcarra, L Noriega-Portella, L Noriega-Hoces, S Munné
OBJECTIVE: To study if the number of trophectoderm (TE) biopsied cells has an impact on implantation rates. DESIGN: A retrospective cohort study in a single-center study. SETTING: In vitro fertilization center. PATIENTS: Patients who underwent PGT-A from January 2013 to March 2016. In total, 482 vitrified/warmed single embryo transfers were included. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Clinical pregnancies rate, implantation rate...
October 17, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/30316435/preimplantation-genetic-testing-for-aneuploidy-is-cost-effective-shortens-treatment-time-and-reduces-the-risk-of-failed-embryo-transfer-and-clinical-miscarriage
#10
Shelby A Neal, Scott J Morin, Jason M Franasiak, Linnea R Goodman, Caroline R Juneau, Eric J Forman, Marie D Werner, Richard T Scott
OBJECTIVE: To determine if preimplantation genetic testing for aneuploidy (PGT-A) is cost-effective for patients undergoing in vitro fertilization (IVF). DESIGN: Decision analytic model comparing costs and clinical outcomes of two strategies: IVF with and without PGT-A. SETTING: Genetics laboratory. PATIENTS: Women ≤ 42 years of age undergoing IVF. INTERVENTION(S): Decision analytic model applied to the above patient population utilizing a combination of actual clinical data and assumptions from the literature regarding the outcomes of IVF with and without PGT-A...
October 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/30316433/diagnostic-efficacy-of-blastocoel-fluid-and-spent-media-as-sources-of-dna-for-preimplantation-genetic-testing-in-standard-clinical-conditions
#11
Antonio Capalbo, Valeria Romanelli, Cristina Patassini, Maurizio Poli, Laura Girardi, Adriano Giancani, Marta Stoppa, Danilo Cimadomo, Filippo Maria Ubaldi, Laura Rienzi
OBJECTIVE: To determine whether blastocoel fluid (BF) or spent blastocyst medium (SBM) is a suitable template for genotype and/or karyotype assessment of in vitro fertilization-generated embryos. DESIGN: Prospective blinded study. SETTING: Genetic laboratory. PATIENT(S): From 26 patients undergoing preimplantation genetic testing (PGT) treatments, 103 trophectoderms (TE), 92 BF samples, and 72 SBM samples. INTERVENTION(S): The BF and SBM were retrieved at the time of TE biopsy...
October 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/30278174/national-mosaic-embryo-transfer-practices-a-survey
#12
Tesia G Kim, Michael F Neblett, Lisa M Shandley, Kenan Omurtag, Heather S Hipp, Jennifer F Kawwass
BACKGROUND: The growing use of preimplantation genetic testing with in vitro fertilization has provided clinicians with more information about the genetics of embryos. Embryos, however, sometimes result with a mixed composition of both aneuploid and euploid cells, called mosaic embryos. The interpretation of these results has varied, leading some clinicians to transfer mosaic embryos and some opt not to. In addition, laboratories providing preimplantation genetic testing for aneuploidy have differing thresholds for determining an embryo aneuploid, mosaic, or euploid...
December 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/30265329/associations-of-blastocyst-features-trophectoderm-biopsy-and-other-laboratory-practice-with-post-warming-behavior-and-implantation
#13
Danilo Cimadomo, Antonio Capalbo, Paolo Emanuele Levi-Setti, Daria Soscia, Giovanna Orlando, Elena Albani, Valentina Parini, Marta Stoppa, Lisa Dovere, Luisa Tacconi, Elena Ievoli, Roberta Maggiulli, Filippo Maria Ubaldi, Laura Rienzi
STUDY QUESTION: Are trophectoderm biopsy or other pre-vitrification features or laboratory practices associated with differences in blastocyst post-warming behavior (degeneration, re-expansion and live birth after single embryo transfer (SET))? SUMMARY ANSWER: Blastocyst morphology, day of full development and artificial shrinkage (either laser-assisted or biopsy-induced) are the pre-vitrification parameters/practices most strongly associated with post-warming behavior and implantation potential while there was no association with trophectoderm biopsy...
November 1, 2018: Human Reproduction
https://www.readbyqxmd.com/read/30239718/inconclusive-chromosomal-assessment-after-blastocyst-biopsy-prevalence-causative-factors-and-outcomes-after-re-biopsy-and-re-vitrification-a-multicenter-experience
#14
Danilo Cimadomo, Laura Rienzi, Valeria Romanelli, Erminia Alviggi, Paolo Emanuele Levi-Setti, Elena Albani, Ludovica Dusi, Letizia Papini, Claudia Livi, Francesca Benini, Antonella Smeraldi, Cristina Patassini, Filippo Maria Ubaldi, Antonio Capalbo
STUDY QUESTION: Can a second round of biopsy, vitrification and chromosomal testing provide a valid diagnosis where the first attempt fails? SUMMARY ANSWER: The risk of inconclusive chromosomal-assessment after trophectoderm biopsy was 2.5% but a further biopsy and vitrification-warming appeared not to impair the competence of euploid blastocysts. WHAT IS KNOWN ALREADY: The increasing implementation of multicell trophectoderm biopsy has significantly reduced the risk of inconclusive diagnosis after preimplantation-genetic-testing (PGT)...
October 1, 2018: Human Reproduction
https://www.readbyqxmd.com/read/30232021/status-of-preimplantation-genetic-testing-and-embryo-selection
#15
Santiago Munné
At the recent 2018 PGDIS congress, a review of randomized controlled trials of preimplantation genetic testing for aneuploidies (PGT-A) showed improved ongoing pregnancy rates per transfer in experienced centres and in women aged 35 years and older. Young women produce 40% abnormal embryos (20-60% range), but not all centres see a selection advantage; this indicates the need for more emphasis in improving biopsy and case management. Some chromosome abnormalities are iatrogenic; PGT-A could, therefore, be used as assisted reproductive technology (ART) quality control...
October 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/30228073/prevalence-and-authenticity-of-de-novo-segmental-aneuploidy-16-mb-in-human-blastocysts-as-detected-by-next-generation-sequencing
#16
Shuang Zhou, Dehua Cheng, Qi Ouyang, Pingyuan Xie, Changfu Lu, Fei Gong, Liang Hu, Yueqiu Tan, Guangxiu Lu, Ge Lin
RESEARCH QUESTION: What is the prevalence and authenticity of de-novo segmental aneuploidies (>16 Mb) detected by next-generation sequencing (NGS) in human preimplantation blastocysts? DESIGN: Between April 2013 and June 2016, 5735 blastocysts from 1854 couples (average age 33.11 ± 5.65 years) underwent preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR) or for aneuploidy (PGT-A) using NGS on trophectoderm (TE) biopsy samples. The prevalence of de-novo segmental aneuploidy was calculated from these results...
August 29, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/30199281/low-gonadotropin-dosage-reduces-aneuploidy-in-human-preimplantation-embryos-first-clinical-study-in-a-uae-population
#17
Kabir Sachdeva, Divyesh Upadhyay, Richard Discutido, Merlin Mary Varghese, Firas Albuz, Rawan Almekosh, Linda Bouhafs, Sadika Solkar, Martina Stevikova, Braulio Peramo
TYPE OF STUDY: Retrospective analysis of embryo aneuploidy in patients undergoing in vitro fertilization (IVF) cycles. AIM: To evaluate factors that might affect the incidence of embryo aneuploidy during IVF cycles. METHODS: Three hundred twelve IVF cases were included in the present study. Preimplantation genetic testing for aneuploidy (PGT-A) was performed for all the subjects involved. Subject stratification was done based on maternal age, gonadotropin drug dosage, and IVF outcomes data...
October 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/30182774/inconclusive-results-in-preimplantation-genetic-testing-go-for-a-second-biopsy
#18
Monica Parriego, Lluc Coll, Francesca Vidal, Montserrat Boada, Marta Devesa, Buenaventura Coroleu, Anna Veiga
The transition in biopsy timing from blastomere to trophectoderm biopsy has led to a remarkable decrease in the percentage of undiagnosed blastocysts. However, patients with few or no euploid blastocysts can be affected by this residual percentage of diagnosis failure. The aim of this study is to assess whether blastocyst rebiopsy and revitrification is an efficient and safe procedure to be applied in cases of no results after analysis. Fifty-three patients agreed to the warming of 61 blastocysts to perform a second biopsy and PGT-A by aCGH...
September 5, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/30146380/should-every-embryo-undergo-preimplantation-genetic-testing-for-aneuploidy-a-review-of-the-modern-approach-to-in-vitro-fertilization
#19
REVIEW
Susan M Maxwell, James A Grifo
Aneuploid conceptions constitute the majority of pregnancy failures in women of advanced maternal age. The best way to combat age-related decline in fertility is through preimplantation genetic testing for aneuploidy (PGT-A). PGT-A allows for better embryo selection, which improves implantation rates with single embryo transfer and reduces miscarriage rates. Single embryo transfers decrease multiple gestations and adverse pregnancy outcomes such as preterm or low birth weight infants. Advancements in extended embryo culture, blastocyst biopsy techniques, and 24-chromosome aneuploidy screening platforms have made PGT-A safe and accessible for all patients who undergo in vitro fertilization...
July 25, 2018: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/30133476/clinical-reassessment-of-human-embryo-ploidy-status-between-cleavage-and-blastocyst-stage-by-next-generation-sequencing
#20
Alberto Liñán, Barbara Lawrenz, Ibrahim El Khatib, Asina Bayram, Ana Arnanz, Carmen Rubio, Rupali Chopra, Human M Fatemi
One of the most important limitations of genetic testing in preimplantation embryos is embryonic mosaicism, especially when performed on D3 with only a single blastomere evaluated. Previous publications, using Array-Comparative Genomic Hybridization (a-CGH) to compare day 3 (D3) biopsies versus trophectoderm biopsies for the analysis of aneuploid embryos, showed similar high concordance rates per embryo diagnosis for D3 biopsies and trophectoderm biopsies. Next generation sequencing (NGS) was introduced lately as a new technique for preimplantation genetic testing for aneuploidies (PGT-A)...
2018: PloS One
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