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Trophectoderm biopsy

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https://www.readbyqxmd.com/read/29622066/-preimplantation-genetic-diagnosis
#1
Hans Jakob Ingerslev, Birte Degn, Christina Hnida, Tue Diemer, Michael Bjørn Petersen, Tine Nørregaard Olesen, Henrik Krarup, Inge Søkilde Pedersen
In Denmark, preimplantation genetic diagnosis (PGD) is offered within the public healthcare to families with a known risk of an inherited disease in a child - as an alternative to prenatal diagnosis. It is a well-established technique with rather well-described perinatal- and neonatal outcomes, being comparable to what is seen following in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI). The most common strategy is now to perform trophectoderm biopsy and then vitrify, while the diagnostic test is performed...
April 2, 2018: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29609956/the-arcuate-uterus-is-there-an-impact-on-in-vitro-fertilization-outcomes-after-euploid-embryo-transfer
#2
Eric S Surrey, Mandy Katz-Jaffe, Rebecca L Surrey, Amy Snyder Small, Robert L Gustofson, William B Schoolcraft
OBJECTIVE: To study the impact of the arcuate uterus on euploid blastocyst-stage embryo transfer outcomes after comprehensive chromosomal screening (CCS). DESIGN: Controlled retrospective trial. SETTING: Tertiary care assisted reproduction technology (ART) center. PATIENT(S): Consecutive patients undergoing in vitro fertilization and euploid embryo transfer after CCS during 2014. INTERVENTION(S): Ultrasound examinations and office hysteroscopy; array comparative genomic hybridization to perform CCS after a trophectoderm biopsy...
March 30, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29547808/evaluation-of-preimplantation-genetic-testing-for-chromosomal-structural-rearrangement-by-a-commonly-used-next-generation-sequencing-workflow
#3
Judy F C Chow, William S B Yeung, Vivian C Y Lee, Estella Y L Lau, Ernest H Y Ng
OBJECTIVES: To evaluate the applicability of a commonly used next generation sequencing workflow in detecting unbalanced meiotic segregation products for reciprocal translocation and inversion carriers. STUDY DESIGN: All preimplantation genetic testing treatment cycles performed for reciprocal translocation or inversion carriers from 2012 to April 2017 were included. Three hundreds and forty-two archived whole genome amplified DNA, which had previously analyzed by array comparative genomic hybridization (aCGH), were retrospectively analyzed by next generation sequencing (NGS)...
March 9, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29546326/a-rationale-for-biopsying-embryos-reaching-the-morula-stage-on-day-6-in-women-undergoing-preimplantation-genetic-testing-for-aneuploidy
#4
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...
March 13, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29541197/successful-preimplantation-genetic-diagnosis-by-targeted-next-generation-sequencing-on-an-ion-torrent-personal-genome-machine-platform
#5
Yan Hao, Dawei Chen, Zhiguo Zhang, Ping Zhou, Yunxia Cao, Zhaolian Wei, Xiaofeng Xu, Beili Chen, Weiwei Zou, Mingrong Lv, Dongmei Ji, Xiaojin He
Hearing loss may place a heavy burden on the patient and patient's family. Given the high incidence of hearing loss among newborns and the huge cost of treatment and care (including cochlear implantation), prenatal diagnosis is strongly recommended. Termination of the fetus may be considered as an extreme outcome to the discovery of a potential deaf fetus, and therefore preimplantation genetic diagnosis has become an important option for avoiding the birth of affected children without facing the risk of abortion following prenatal diagnosis...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29471395/origin-and-composition-of-cell-free-dna-in-spent-medium-from-human-embryo-culture-during-preimplantation-development
#6
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...
February 20, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29452698/are-cleavage-anomalies-multinucleation-or-specific-cell-cycle-kinetics-observed-with-time-lapse-imaging-predictive-of-embryo-developmental-capacity-or-ploidy
#7
Nina Desai, Jeffrey M Goldberg, Cynthia Austin, Tommaso Falcone
OBJECTIVE: To determine whether cleavage anomalies, multinucleation, and specific cellular kinetic parameters available from time-lapse imaging are predictive of developmental capacity or blastocyst chromosomal status. DESIGN: Retrospective analysis of prospectively collected data. SETTING: Single academic center. PATIENT(S): A total of 1,478 zygotes from patients with blastocysts biopsied for preimplantation genetic screening were cultured in the EmbryoScope...
February 13, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29373974/degree-of-mosaicism-in-trophectoderm-does-not-predict-pregnancy-potential-a-corrected-analysis-of-pregnancy-outcomes-following-transfer-of-mosaic-embryos
#8
Vitaly A Kushnir, Sarah K Darmon, David H Barad, Norbert Gleicher
BACKGROUND: Preimplantation genetic screening (PGS) is increasingly utilized as an adjunct procedure to IVF. Recently healthy euploid live birth were reported following transfer of mosaic embryos. Several recent publications have surmised that the degree of trophectoderm (TE) mosaicism in transferred embryos is predictive of ongoing pregnancy and miscarriage rates. METHODS: This is a corrected analysis of previously published retrospective data on vitro fertilization (IVF) cycle outcomes involving replacement of 143 mosaic and 1045 euploid embryos tested by PGS, utilizing high-resolution next-generation sequencing (NGS) of TE and determination of percentages of mosaicism...
January 26, 2018: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/29366772/validation-of-a-targeted-next-generation-sequencing-based-comprehensive-chromosome-screening-platform-for-detection-of-triploidy-in-human-blastocysts
#9
Diego Marin, Rebekah Zimmerman, Xin Tao, Yiping Zhan, Richard T Scott, Nathan R Treff
Triploidy accounts for ~2% of natural pregnancies and 15% of cytogenetically abnormal miscarriages. This study aimed to validate triploidy detection in human blastocysts, its frequency and parental origin using genotyping data generated in parallel with chromosome copy number analysis by a targeted next generation sequencing (tNGS)-based comprehensive chromosome screening platform. Phase 1: diploid and triploid control samples were blinded, sequenced by tNGS and karyotype predictions compared for accuracy. Phase 2: tNGS was used to calculate the frequency of triploidy in 18,791 human blastocysts from trophectoderm (TE) biopsies...
April 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29353449/blastulation-timing-is-associated-with-differential-mitochondrial-content-in-euploid-embryos
#10
Jacqueline R Ho, Nabil Arrach, Katherine Rhodes-Long, Wael Salem, Lynda K McGinnis, Karine Chung, Kristin A Bendikson, Richard J Paulson, Ali Ahmady
PURPOSE: Preimplantation genetic screening (PGS) and assessment of mitochondrial content (MC) are current methods for selection of the best embryos for transfer. Studies suggest that time-lapse morphokinetics (TLM) may also be helpful for selecting embryos more likely to implant. In our study, we sought to examine the relationship between TLM parameters and MC to determine if they could be used adjunctively in embryo selection. We also examined the relationship between MC with ploidy and blastulation...
January 20, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29325267/-analysis-of-clinical-outcomes-of-different-embryo-stage-biopsy-in-array-comparative-genomic-hybridization-based-preimplantation-genetic-diagnosis-and-screening
#11
J D Shen, W Wu, L Shu, L L Cai, J Z Xie, L Ma, X P Sun, Y G Cui, J Y Liu
Objective: To evaluate the efficiency of the application of array comparative genomic hybridization (array-CGH) in preimplantation genetic diagnosis or screening (PGD/PGS), and compare the clinical outcomes of different stage embryo biopsy. Methods: The outcomes of 381 PGD/PGS cycles referred in the First Affiliated Hospital of Nanjing Medical University from July 2011 to August 2015 were retrospectively analyzed. There were 320 PGD cycles with 156 cleavage-stage-biopsy cycles and 164 trophectoderm-biopsy cycles, 61 PGS cycles with 23 cleavage-stage-biopsy cycles and 38 trophectoderm-biopsy cycles...
December 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29315321/inner-cell-mass-incarceration-in-8-shaped-blastocysts-does-not-increase-monozygotic-twinning-in-preimplantation-genetic-diagnosis-and-screening-patients
#12
Yi-Fan Gu, Qin-Wei Zhou, Shuo-Ping Zhang, Chang-Fu Lu, Fei Gong, Yue-Qiu Tan, Guang-Xiu Lu, Ge Lin
BACKGROUND: The use of assisted reproductive technology (ART) has been reported to increase the incidence of monozygotic twinning (MZT) compared with the incidence following natural conception. It has been hypothesized that splitting of the inner cell mass (ICM) through a small zona hole may result in MZT. In this study, using a cohort of patients undergoing preimplantation genetic diagnosis/screening (PGD/PGS), we compared the clinical and neonatal outcomes of human 8-shaped blastocysts hatching with ICM incarceration with partially or fully hatched blastocysts, and attempted to verify whether this phenomenon increases the incidence of MZT pregnancy or negatively impact newborns...
2018: PloS One
https://www.readbyqxmd.com/read/29307391/variables-associated-with-mitochondrial-copy-number-in-human-blastocysts-what-can-we-learn-from-trophectoderm-biopsies
#13
Maria José de Los Santos, Antonio Diez Juan, Amparo Mifsud, Amparo Mercader, Marcos Meseguer, Carmen Rubio, Antonio Pellicer
OBJECTIVE: To study the potential variables that affect the mitochondrial DNA (mtDNA) content of trophectoderm (TE) cells in blastocysts that have undergone TE biopsy. DESIGN: Observational retrospective single-center analysis. SETTING: University-affiliated private in vitro fertilization center. PATIENT(S): A total of 465 consecutive preimplantation genetic screening (PGS) cycles of 402 women undergoing preimplantation genetic testing...
January 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29224066/genome-wide-copy-number-alteration-detection-in-preimplantation-genetic-diagnosis
#14
Lieselot Deleye, Dieter De Coninck, Dieter Deforce, Filip Van Nieuwerburgh
Shallow whole genome sequencing has recently been introduced for genome-wide detection of chromosomal copy number alterations (CNAs) in preimplantation genetic diagnosis (PGD), using only 4-7 trophectoderm cells biopsied from day-5 embryos. This chapter describes the complete method, starting from whole genome amplification (WGA) on isolated blastomere(s), up to data analysis for CNA detection. The process is described generically and can also be used to perform CNA analysis on a limited number of cells (down to a single cell) in other applications...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29202974/embryo-aneuploidy-is-not-impacted-by-selective-serotonin-reuptake-inhibitor-exposure
#15
Carlos Hernandez-Nieto, Joseph Lee, Taraneh Nazem, Dmitry Gounko, Alan Copperman, Benjamin Sandler
OBJECTIVE: To study whether maternal exposure to selective serotonin reuptake inhibitors (SSRIs) has any influence on rates of blastocyst aneuploidy and/or in vitro fertilization (IVF) cycle outcomes. DESIGN: Retrospective cohort analysis. SETTING: Private and academic IVF center. PATIENT(S): Patients who underwent IVF with preimplantation genetic treatment with trophectoderm biopsy (n = 4,355 cycles) and patients who underwent a single-embryo transfer (SET) between January-2012 and June-2017 (n = 2,132 cycles)...
December 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/29191449/extent-of-chromosomal-mosaicism-influences-the-clinical-outcome-of-in-vitro-fertilization-treatments
#16
Francesca Spinella, Francesco Fiorentino, Anil Biricik, Sara Bono, Alessandra Ruberti, Ettore Cotroneo, Marina Baldi, Elisabetta Cursio, Maria Giulia Minasi, Ermanno Greco
OBJECTIVE: To assess whether the extent of chromosomal mosaicism can influence the success rate of IVF treatments. DESIGN: Prospective study. SETTING: Private genetic and assisted reproduction centers. PATIENT(S): The transfer of mosaic embryos was offered to 77 women for which IVF resulted in no euploid embryos available for transfer. INTERVENTION(S): All embryos were cultured to blastocyst stage; trophectoderm biopsy was performed on day 5/6 of development...
January 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29186554/preclinical-validation-of-a-targeted-next-generation-sequencing-based-comprehensive-chromosome-screening-methodology-in-human-blastocysts
#17
R S Zimmerman, X Tao, D Marin, M D Werner, K H Hong, A Lonczak, J Landis, D Taylor, Y Zhan, R T Scott, N R Treff
STUDY QUESTION: Can a novel targeted next generation sequencing (tNGS) platform accurately detect whole chromosome aneuploidy in a trophectoderm biopsy and provide additional information to improve testing? SUMMARY ANSWER: Karyotypes obtained by tNGS were concordant with other validated platforms and single nucleotide polymorphism genotyping information obtained can be used for improved detection and quality control. WHAT IS KNOWN ALREADY: qPCR-based whole chromosome aneuploidy screening is highly accurate in comparison to other common methods and has been shown to improve IVF success in two randomized clinical trials...
January 1, 2018: Molecular Human Reproduction
https://www.readbyqxmd.com/read/29120571/a-healthy-hla-matched-baby-born-by-using-a-combination-of-acgh-and-karyomapping-the-first-latin-american-case
#18
Andrea Delgado, Guillermo Llerena, Rosmary Lopez, Jimmy Portella, Naomi Inoue, Luis Noriega-Hoces, Luis Guzman
PGD for HLA typing is a procedure that can be performed when an affected child requires a transplant to treat a non-hereditary disorder related to the hematopoietic and/or immune system. Hematopoietic stem cell transplantation from an HLA-identical donor provides the best treatment option. Three conventional ovarian stimulation procedures for IVF were performed in a couple with a 10-year-old child diagnosed with T-cell acute lymphoblastic leukemia of high risk. Trophectoderm biopsy and aCGH examination were performed on 15 blastocysts, three on the first IVF procedure, four on the second cycle, and eight on the third...
December 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29063503/are-blastocyst-aneuploidy-rates-different-between-fertile-and-infertile-populations
#19
Jonathan D Kort, Rajiv C McCoy, Zach Demko, Ruth B Lathi
PURPOSE: This study aimed to determine if patients with infertility or recurrent pregnancy loss have higher rates of embryo aneuploidy than fertile controls. METHODS: This was a retrospective review of all pre-implantation genetic screening (PGS) cases processed by a single reference lab prior to March 2014 after a blastocyst biopsy. Cases were excluded if no indication for PGS was designated or patients were translocation carriers. The fertile control group consisted of patients undergoing IVF with PGS for sex selection only...
October 23, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29044423/cultured-bovine-embryo-biopsy-conserves-methylation-marks-from-original-embryo
#20
Noelia Fonseca Balvís, Soledad Garcia-Martinez, Serafín Pérez-Cerezales, Elena Ivanova, Isabel Gomez-Redondo, Meriem Hamdi, Dimitrios Rizos, Pilar Coy, Gavin Kelsey, Alfonso Gutierrez-Adan
A major limitation of embryo epigenotyping by chromatin immunoprecipitation analysis is the reduced amount of sample available from an embryo biopsy. We developed an in vitro system to expand trophectoderm cells from an embryo biopsy to overcome this limitation. This work analyzes whether expanded trophectoderm (EX) is representative of the trophectoderm (TE) methylation or adaptation to culture has altered its epigenome. We took a small biopsy from the trophectoderm (30-40 cells) of in vitro produced bovine-hatched blastocysts and cultured it on fibronectin-treated plates until we obtained ∼4 × 104 cells...
August 1, 2017: Biology of Reproduction
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