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Willem Verpoest, Catherine Staessen, Patrick M Bossuyt, Veerle Goossens, Gheona Altarescu, Maryse Bonduelle, Martha Devesa, Talia Eldar-Geva, Luca Gianaroli, Georg Griesinger, Georgia Kakourou, Georgia Kokkali, Jana Liebenthron, Maria-Cristina Magli, Monica Parriego, Andreas G Schmutzler, Monica Tobler, Katrin van der Ven, Joep Geraedts, Karen Sermon
STUDY QUESTION: Does preimplantation genetic testing for aneuploidy (PGT-A) by comprehensive chromosome screening (CCS) of the first and second polar body to select embryos for transfer increase the likelihood of a live birth within 1 year in advanced maternal age women aged 36-40 years planning an ICSI cycle, compared to ICSI without chromosome analysis? SUMMARY ANSWER: PGT-A by CCS in the first and second polar body to select euploid embryos for transfer does not substantially increase the live birth rate in women aged 36-40 years...
August 6, 2018: Human Reproduction
Brandy Lamb, Erin Johnson, Leslie Francis, Melinda Fagan, Naomi Riches, Isabella Canada, Alena Wilson, Amber Mathiesen, Maya Sabatello, Shawn Gurtcheff, Erica Johnstone, Erin Rothwell
PURPOSE: Embryo testing to improve pregnancy outcomes among individuals who are seeking assisted reproduction technologies is increasing. The purpose of this study was to assess decisional factors through in-depth interviews for why women would accept or decline preimplantation genetic testing for aneuploidy (PGT-A) with in vitro fertilization (IVF). METHODS: Semi-structured telephone interviews were conducted with 37 women who were offered PGT-A with IVF during the summer 2017...
August 3, 2018: Journal of Assisted Reproduction and Genetics
Randi H Goldman, Catherine Racowsky, Leslie V Farland, Janis H Fox, Santiago Munné, Lia Ribustello, Elizabeth S Ginsburg
PURPOSE: To determine the expected out-of-pocket costs of IVF with preimplantation genetic testing for aneuploidy (PGT-A) to attain a 50%, 75%, or 90% likelihood of a euploid blastocyst based on individual age and AMH, and develop a personalized counseling tool. METHODS: A cost analysis was performed and a counseling tool was developed using retrospective data from IVF cycles intended for PGT or blastocyst freeze-all between January 1, 2014 and August 31, 2017 (n = 330) and aggregate statistics on euploidy rates of > 149,000 embryos from CooperGenomics...
July 31, 2018: Journal of Assisted Reproduction and Genetics
S J Morin, G Patounakis, C R Juneau, S A Neal, R T Scott, E Seli
STUDY QUESTION: Do infertile women aged <38 years with quantitative evidence of diminished ovarian reserve and/or poor response to stimulation also exhibit poor oocyte quality as measured by blastulation rates, aneuploidy rates, and live birth rates? SUMMARY ANSWER: Young women with evidence of accelerated follicular depletion, either by precycle ovarian reserve testing or postcycle evidence of low oocyte yield, exhibit equivalent blastulation rates, aneuploidy rates and live birth rates per euploid embryo transfer as age-matched controls with normal precycle and postcycle parameters...
July 11, 2018: Human Reproduction
Xavier Viñals Gonzalez, Rabi Odia, Suzanne Cawood, Matthew Gaunt, Wael Saab, Srividya Seshadri, Paul Serhal
PURPOSE: The aim of the study is to investigate how blastocyst contraction behaviour affects the reproductive competence in high-quality euploid embryos. METHODS: Eight hundred ninety-six high-quality blastocysts derived from 190 patients (mean age 38.05 (SD = 2.9) years) who underwent preimplantation genetic testing for aneuploidies (PGT-A) from January 2016 to October 2017 were included in this study. PGT-A results were reported as euploid or aneuploid. Aneuploid embryos were sub-classified into three categories: monosomy, trisomy and complex aneuploid...
July 6, 2018: Journal of Assisted Reproduction and Genetics
Jacqueline R Ho, Nabil Arrach, Katherine Rhodes-Long, Ali Ahmady, Sue Ingles, Karine Chung, Kristin A Bendikson, Richard J Paulson, Lynda K McGinnis
OBJECTIVE: To determine the accuracy of cell-free DNA (cfDNA) in spent embryo medium (SEM) for ploidy and sex detection at the cleavage and blastocyst stages. To determine if assisted hatching (AH) and morphologic grade influence cfDNA concentration and accuracy. DESIGN: Prospective cohort. SETTING: Academic fertility center. PATIENT(S): Nine patients undergoing IVF; 41 donated two-pronuclei embryos and 20 embryos from patients undergoing preimplantation genetic testing for aneuploidy (PGT-A)...
June 27, 2018: Fertility and Sterility
Darren K Griffin, Cagri Ogur
Designed to minimize chances of genetically abnormal embryos, preimplantation genetic diagnosis (PGD) involves in vitro fertilization (IVF), embryo biopsy, diagnosis and selective embryo transfer. Preimplantation genetic testing for aneuploidy (PGT-A) aims to avoid miscarriage and live born trisomic offspring and to improve IVF success. Diagnostic approaches include fluorescence in situ hybridization (FISH) and more contemporary comprehensive chromosome screening (CCS) including array comparative genomic hybridization (aCGH), quantitative polymerase chain reaction (PCR), next-generation sequencing (NGS) and karyomapping...
July 2018: Reproduction: the Official Journal of the Society for the Study of Fertility
Danilo Cimadomo, Alberto Vaiarelli, Silvia Colamaria, Elisabetta Trabucco, Carlo Alviggi, Roberta Venturella, Erminia Alviggi, Ramona Carmelo, Laura Rienzi, Filippo Maria Ubaldi
STUDY QUESTION: Are the mean numbers of blastocysts obtained from sibling cohorts of oocytes recruited after follicular phase and luteal phase stimulations (FPS and LPS) in the same ovarian cycle similar? SUMMARY ANSWER: The cohorts of oocytes obtained after LPS are larger than their paired-FPS-derived cohorts and show a comparable competence, thus resulting in a larger mean number of blastocysts. WHAT IS KNOWN ALREADY: Three theories of follicle recruitment have been postulated to date: (i) the 'continuous recruitment' theory, (ii) the 'single recruitment episode' theory and (iii) the 'wave' theory...
June 15, 2018: Human Reproduction
Alexander L Simon, Michelle Kiehl, Erin Fischer, J Glenn Proctor, Mark R Bush, Carolyn Givens, Matthew Rabinowitz, Zachary P Demko
OBJECTIVE: To measure in vitro fertilization (IVF) outcomes following 24-chromosome single‒nucleotide-polymorphism (SNP)-based preimplantation genetic testing for aneuploidy (PGT-A) and euploid embryo transfer. DESIGN: Retrospective. SETTING: Fertility clinics and laboratory. PATIENT(S): Women 20-46 years of age undergoing IVF treatment. INTERVENTION(S): Twenty-four-chromosome SNP-based PGT-A of day 5/6 embryo biopsies...
July 1, 2018: Fertility and Sterility
Lluc Coll, Mònica Parriego, Montserrat Boada, Marta Devesa, Gemma Arroyo, Ignacio Rodríguez, Bonaventura Coroleu, Francesca Vidal, Anna Veiga
SummaryShortly after the implementation of comprehensive chromosome screening (CCS) techniques for preimplantation genetic testing for aneuploidies (PGT-A), the discussion about the transition from day 3 to blastocyst stage biopsy was initiated. Trophectoderm biopsy with CCS is meant to overcome the limitations of cleavage-stage biopsy and single-cell analysis. The aim of this study was to assess the results obtained in our PGT-A programme after the implementation of this new strategy. Comparisons between the results obtained in 179 PGT-A cycles with day 3 biopsy (D+3) and fresh embryo transfer, and 204 cycles with trophectoderm biopsy and deferred (frozen-thawed) embryo transfer were established...
June 2018: Zygote: the Biology of Gametes and Early Embryos
M Popovic, A Dheedene, C Christodoulou, J Taelman, L Dhaenens, F Van Nieuwerburgh, D Deforce, E Van den Abbeel, P De Sutter, B Menten, B Heindryckx
STUDY QUESTION: To what extent does a trophectoderm (TE) biopsy reliably reflect the chromosomal constitution of the inner cell mass (ICM) in human blastocysts? SUMMARY ANSWER: Concordance between TE and ICM was established in 62.1% of the embryos analysed. WHAT IS KNOWN ALREADY: Next generation sequencing (NGS) platforms have recently been optimised for preimplantation genetic testing for aneuploidies (PGT-A). However, higher sensitivity has led to an increase in reports of chromosomal mosaicism within a single TE biopsy...
July 1, 2018: Human Reproduction
Rossella Mazzilli, Danilo Cimadomo, Laura Rienzi, Antonio Capalbo, Paolo Emanuele Levi Setti, Claudia Livi, Damiano Vizziello, Carlo Foresta, Alberto Ferlin, Filippo Maria Ubaldi
STUDY QUESTION: Which is the prevalence of a 47,XXY karyotype in human blastocysts biopsied during preimplantation genetic testing for aneuploidies (PGT-A) cycles? SUMMARY ANSWER: The prevalence of a 47,XXY karyotype amongst male blastocysts without autosomal aneuploides is ~1%. WHAT IS KNOWN ALREADY: The prevalence of Klinefelter syndrome is estimated as 0.1-0.2% in male newborns. However, the KS phenotype is extremely variable and there are men with a 47,XXY karyotype and less evident signs, who may go undetected...
July 1, 2018: Human Reproduction
Xiao Jiang, Junhao Yan, Yan Sheng, Mei Sun, Linlin Cui, Zi-Jiang Chen
RESEARCH QUESTION: Does an association exist between serum anti-Müllerian hormone (AMH) level, the marker of biological ovarian age, and embryonic aneuploidy risk in recurrent spontaneous miscarriage (RSM) patients of reproductive age? DESIGN: This retrospective study included a total of 422 IVF cycles of 394 unexplained RSM patients undergoing preimplantation genetic testing for aneuploidy (PGT-A), enrolled from January 2014 to December 2016. Subjects were divided into three groups according to the 25th (1...
April 13, 2018: Reproductive Biomedicine Online
Scott J Morin, Daniel J Kaser, Jason M Franasiak
PURPOSE OF REVIEW: Preimplantation genetic testing for aneuploidy (PGT-A) has been demonstrated to improve implantation and pregnancy rates and decrease miscarriage rates over standard morphology-based embryo selection. However, there are limited data on its efficacy in patients with diminished ovarian reserve or a poor response to stimulation who may have fewer embryos to select amongst. RECENT FINDINGS: Early findings demonstrate that PGT-A reduces the miscarriage rate and decreases the time to delivery in poor responders...
June 2018: Current Opinion in Obstetrics & Gynecology
(no author information available yet)
The value of preimplantation genetic testing for aneuploidy (PGT-A) as a screening test for in vitro fertilization (IVF) patients has yet to be determined. Several studies demonstrate higher birth rates after aneuploidy testing and elective single-embryo transfer (eSET), suggesting the potential for this testing to decrease the risk of multiple gestations, though these studies have important limitations.
March 2018: Fertility and Sterility
M Irani, N Zaninovic, C Canon, C O'Neill, V Gunnala, Q Zhan, G Palermo, D Reichman, Z Rosenwaks
STUDY QUESTION: Is there a benefit to assessing ploidy in delayed embryos reaching the morula stage on Day 6 of development? SUMMARY ANSWER: Day-6 morulae should be considered for biopsy in women <40 years old undergoing preimplantation genetic testing for aneuploidy (PGT-A) because they are associated with acceptable, albeit reduced, euploidy and implantation rates (IRs). WHAT IS KNOWN ALREADY: Embryo development and morphology have been shown to correlate with aneuploidy and pregnancy rates...
May 1, 2018: Human Reproduction
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
M E Bunnell, L Wilkins-Haug, R Reiss
OBJECTIVE: To review the literature for survival and phenotypes of liveborns with autosomal monosomy to inform decisions regarding transfer of in vitro fertilization-derived embryos reported as monosomic on preimplantation genetic testing for aneuploidy (PGT-A). METHOD: Ovid-Medline and EMBASE were systematically searched to identify published case reports of liveborn individuals with autosomal monosomy, full or mosaic, for a whole chromosome. RESULTS: Fifty-three reports describing 56 individuals with autosomal monosomy met the selection criteria: 1 case each of monosomy 14 and 16, 3 each for monosomy 15 and 18, 1 for group "E", 5 for monosomy 20, 24 for monosomy 21, 7 for monosomy 22, and eleven for a "G" group chromosome...
December 2017: Prenatal Diagnosis
Elpida Fragouli, Caroline McCaffrey, Krithika Ravichandran, Katharina Spath, James A Grifo, Santiago Munné, Dagan Wells
STUDY QUESTION: Can quantification of mitochondrial DNA (mtDNA) in trophectoderm (TE) biopsy samples provide information concerning the viability of a blastocyst, potentially enhancing embryo selection and improving IVF treatment outcomes? SUMMARY ANSWER: This study demonstrated that euploid blastocysts of good morphology, but with high mtDNA levels had a greatly reduced implantation potential. WHAT IS KNOWN ALREADY: Better methods of embryo selection leading to IVF outcome improvement are necessary, as the transfer of chromosomally normal embryos of high morphological grade cannot guarantee the establishment of an ongoing pregnancy...
November 1, 2017: Human Reproduction
Nicole Andrews, Laura L Jones, Naiem Moiemen, Melanie Calvert, Philip Kinghorn, Ian Litchfield, Jonathan Bishop, Jonathan J Deeks, Jonathan Mathers
INTRODUCTION: Parents have a crucial role to play in burn scar management for their children at a time that is extremely stressful for them and their child. Scar management treatments such as pressure garment therapy (PGT) require high levels of adherence. There has been a lack of research into the factors that may influence adherence in paediatric burn scar management. This qualitative research study has investigated parents' experiences of scar management and their attempts to adhere to treatment at home...
May 2018: Burns: Journal of the International Society for Burn Injuries
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