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https://www.readbyqxmd.com/read/30402730/the-effect-of-repeated-biopsy-on-pre-implantation-genetic-testing-for-monogenic-diseases-pgt-m-treatment-outcome
#1
Shira Priner, Gheona Altarescu, Oshrat Schonberger, Hananel Holzer, Esther Rubinstein, Nava Dekel, Aharon Peretz, Talia Eldar-Geva
PURPOSE: To study the outcome of repeated biopsy for pre-implantation genetic testing in case of failed genetic diagnosis in the first biopsy. METHODS: The study group included 81 cycles where embryos underwent re-biopsy because there were no transferable embryos after the first biopsy: in 55 cycles, the first procedure was polar body biopsy (PBs) and the second cleavage-stage (BB); in 26 cycles, the first was BB and the second trophectoderm (BLAST) biopsy. The control group included 77 cycles where embryos underwent successful genetic diagnosis following the first biopsy, matched by maternal age, egg number, genetic inheritance type, and embryonic stage at the first biopsy...
November 6, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/30383227/genome-wide-haplotyping-embryos-developing-from-0pn-and-1pn-zygotes-increases-transferrable-embryos-in-pgt-m
#2
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
#3
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/30316433/diagnostic-efficacy-of-blastocoel-fluid-and-spent-media-as-sources-of-dna-for-preimplantation-genetic-testing-in-standard-clinical-conditions
#4
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/30184264/prenatal-and-preimplantation-genetic-diagnosis-for-single-gene-disorders-a-population-based-study-from-1977-to-2016
#5
Alice Poulton, Sharon Lewis, Lisa Hui, Jane L Halliday
OBJECTIVE: To examine the statewide utilisation of prenatal diagnosis (PNDx) and preimplantation genetic diagnosis (PGT-M) for single gene disorders. METHODS: Population-based study of all women utilising PNDx in the Australian state of Victoria from 1977 to 2016. Single gene disorders were categorised using a systematic approach that aimed to reflect aspects of the PNDx decision-making process. Data on PGT-M for single gene disorders from 2005 to 2016 were similarly examined for comparison...
September 5, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30136016/preimplantation-genetic-diagnosis-versus-prenatal-diagnosis-decision-making-among-pregnant-fmr1-premutation-carriers
#6
Lilach Marom Haham, Inbal Avrahami, Noam Domniz, Liat Ries-Levavi, Michal Berkenstadt, Raoul Orvieto, Yoram Cohen, Shai E Elizur
PURPOSE: To detect which factors influence decision-making among pregnant FMR1 premutation carriers regarding the preferred mode of genetic diagnosis: IVF-PGT-M (in vitro fertilization with preimplantation genetic testing for monogenic gene diseases), or CVS (chorionic villus sampling), or AC (amniocentesis) after spontaneous conception. METHODS: In Israel FMR1 premutation preconception genetic screening is offered, free of charge, to every woman in her reproductive years...
August 22, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/30075839/a-big-step-forward-for-pgt-m
#7
EDITORIAL
Sharyn Stock-Myer, Martin Johnson
No abstract text is available yet for this article.
August 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29935659/use-of-preimplantation-genetic-testing-for-monogenic-defects-pgt-m-for-adult-onset-conditions-an-ethics-committee-opinion
#8
(no author information available yet)
Preimplantation genetic testing for monogenic diseases for adult-onset conditions is ethically permissible for a range of conditions including when the condition is serious and no safe, effective interventions are available. The Committee strongly recommends that a genetic counselor experienced with PGT-M counsel patients considering such procedures. This document replaces the document titled "Use of preimplantation genetic diagnosis for serious adult-onset conditions: a committee opinion," last published in Fertil Steril 2013;100;54-7...
June 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29741247/prenatal-and-preimplantation-diagnosis-of-hemoglobinopathies
#9
REVIEW
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29471395/origin-and-composition-of-cell-free-dna-in-spent-medium-from-human-embryo-culture-during-preimplantation-development
#10
M Vera-Rodriguez, A Diez-Juan, J Jimenez-Almazan, S Martinez, R Navarro, V Peinado, A Mercader, M Meseguer, D Blesa, I Moreno, D Valbuena, C Rubio, C Simon
STUDY QUESTION: What is the origin and composition of cell-free DNA in human embryo spent culture media? SUMMARY ANSWER: Cell-free DNA from human embryo spent culture media represents a mix of maternal and embryonic DNA, and the mixture can be more complex for mosaic embryos. WHAT IS KNOWN ALREADY: In 2016, ~300 000 human embryos were chromosomally and/or genetically analyzed using preimplantation genetic testing for aneuploidies (PGT-A) or monogenic disorders (PGT-M) before transfer into the uterus...
April 1, 2018: Human Reproduction
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