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Screening of aneuploidies

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https://www.readbyqxmd.com/read/28428962/a-higher-ovarian-response-after-stimulation-for-ivf-is-related-to-a-higher-number-of-euploid-embryos
#1
Elena Labarta, Ernesto Bosch, Amparo Mercader, Pilar Alamá, Emilia Mateu, Antonio Pellicer
This study has analysed the relationship between ovarian response and the number of euploid embryos. This is a post hoc analysis of a subset of data generated during a prospective cohort study previously published. Forty-six oocyte donors were subjected to ovarian stimulation with 150 IU of rFSH and 75 IU of hp-hMG in a GnRH agonist long protocol. Preimplantation genetic screening was performed in all viable embryos. We observed a positive relationship between ovarian response and the number of euploid embryos...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28428943/pathogenic-variant-in-nlrp7-19q13-42-associated-with-recurrent-gestational-trophoblastic-disease-data-from-early-embryo-development-observed-during-in-vitro-fertilization
#2
E Scott Sills, Alexandra J Obregon-Tito, Harry Gao, Thomas K McWilliams, Anthony T Gordon, Catharine A Adams, Rima Slim
OBJECTIVE: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition thought to occur secondary to an oocyte defect. METHODS: A patient with five consecutive HM pregnancies was genomically evaluated via next generation sequencing followed by controlled ovarian hyperstimulation, in vitro fertilization (IVF) with intracytoplasmic sperm injection, embryo culture, and preimplantation genetic screening...
March 2017: Clinical and Experimental Reproductive Medicine
https://www.readbyqxmd.com/read/28423190/the-clinical-utility-of-genome-wide-non-invasive-prenatal-screening
#3
Francesco Fiorentino, Sara Bono, Francesca Pizzuti, Sara Duca, Arianna Polverari, Monica Faieta, Marina Baldi, Laura Diano, Francesca Spinella
OBJECTIVE: In this study, we expanded conventional cell-free fetal DNA(cfDNA)-based non-invasive prenatal testing(NIPT) to cover the entire genome. We aimed to compare the performance of the two test in a large general population of pregnant women, in order to assess the clinical utility of the genome-wide screening. METHOD: Genome-wide cfDNA analysis was offered to 12.114 pregnant women undergoing NIPT for common fetal aneuploidy. Sequencing data were analyzed using an algorithm optimized to identify aneuploidies and subchromosomal aberrations...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419568/the-influence-of-noninvasive-prenatal-testing-on-gestational-age-at-time-of-abortion-for-aneuploidy
#4
Sarah C Lassey, Emily S Reiff, Lori Dobson, Bryann Bromley, Louise Wilkins-Haug, Deborah Bartz, Sarah E Little
OBJECTIVE: To compare the gestational age at termination for trisomy 13, 18, or 21 (aneuploidy) before and after the introduction of noninvasive prenatal testing (NIPT). METHODS: A retrospective cohort of women undergoing termination for aneuploidy at two academic institutions and one private clinic. We compared two time periods: before and after the introduction of NIPT (2006-2011 and 2012-2014, respectively). Maternal demographics and clinical characteristics were abstracted from the medical record...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28416168/non-invasive-preimplantation-genetic-screening-using-array-comparative-genomic-hybridization-on-spent-culture-media-a-proof-of-concept-pilot-study
#5
Michael Feichtinger, Enrico Vaccari, Luca Carli, Elisabeth Wallner, Ulrike Mädel, Katharina Figl, Simone Palini, Wilfried Feichtinger
The aim of this pilot study was to assess if array comparative genomic hybridization (aCGH), non-invasive preimplantation genetic screening (PGS) on blastocyst culture media is feasible. Therefore, aCGH analysis was carried out on 22 spent blastocyst culture media samples after polar body PGS because of advanced maternal age. All oocytes were fertilized by intracytoplasmic sperm injection and all embryos underwent assisted hatching. Concordance of polar body analysis and culture media genetic results was assessed...
March 28, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28409863/the-influence-of-snp-based-chromosomal-microarray-and-nipt-on-the-diagnostic-yield-in-10-000-fetuses-with-and-without-fetal-ultrasound-anomalies
#6
Malgorzata I Srebniak, Maarten F C M Knapen, Marike Polak, Marieke Joosten, Karin E M Diderich, Lutgarde C P Govaerts, Marjan Boter, Joan N R Kromosoeto, Daniella Aloysia C M van Hassel, Gido Huijbregts, Wilfred F J van Ijcken, Roger Heydanus, Anneke Dijkman, Toon Toolenaar, Femke A T de Vries, Jeroen Knijnenburg, Attie T J I Go, Robert-Jan H Galjaard, Diane Van Opstal
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and non-invasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy...
April 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28397325/analysis-of-cell-free-dna-in-maternal-blood-in-screening-for-aneuploidies-updated-meta-analysis
#7
REVIEW
M M Gil, V Accurti, B Santacruz, M N Plana, K H Nicolaides
OBJECTIVE: To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies. DATA SOURCES: Searches of PubMed, Embase and the Cochrane library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January 2011, when the first such study was published and 31 December 2016...
April 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28394645/new-protocol-based-on-massive-parallel-sequencing-for-aneuploidy-screening-of-preimplantation-human-embryos
#8
Xavier Vendrell, Victoria Fernández-Pedrosa, Juan Carlos Triviño, Rosa Bautista-Llácer, Carmen Collado, Oscar Rodríguez, Elena García-Mengual, Empar Ferrer, Carmen Calatayud, Miguel Ruiz-Jorro
Novel next-generation sequencing procedures have rapidly emerged into the preimplantation genetic screening framework. This work presents the design and validation of a new low-coverage whole-genome sequencing assay for aneuploidy detection in single blastomeres and trophectodermal samples from preimplantation embryos. The validation ensures analytical sensitivity, specificity, robustness, precision, limit of detection, resolution, and reproducibility. Specific parameters to measure the performance are defined, and the results are compared with a standardized array-based method to stablish the concordance...
June 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28389630/identification-of-small-molecule-inhibitors-of-the-aurora-a-tpx2-complex
#9
Italia Anna Asteriti, Frederick Daidone, Gianni Colotti, Serena Rinaldo, Patrizia Lavia, Giulia Guarguaglini, Alessandro Paiardini
Aurora kinases are a family of cell division regulators that govern the correct assembly of a bipolar mitotic spindle and the fidelity of chromosome segregation. Their overexpression is associated with genomic instability and aneuploidy, and is frequently observed in cancer. Accordingly, competitive inhibitors targeting Aurora kinase activity at the ATP-binding site are being investigated for therapeutic purposes. Despite promising pre-clinical data, these molecules display moderate effects in clinical trials and incomplete selectivity, either against distinct family members, or other kinases...
March 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/28382695/discordant-non-invasive-prenatal-testing-nipt-a-systematic-review
#10
REVIEW
Tanja Schlaikjaer Hartwig, Louise Ambye, Steen Sørensen, Finn Stener Jørgensen
With a high sensitivity and specificity, NIPT is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced and experiences with discordant results are few. We did a systematic review of literature reporting details of false positive and false negative NIPT results. Discordant sex chromosome results were not included. We identified 22 studies reporting case details. In total 206 discordant cases were included, of which 88% were false positive and 12% false negative. Details on maternal age, gestational age, platform/company, Z-score, fetal fraction, results and explanation were specified...
April 5, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28380529/characterization-of-an-x-chromosomal-non-mosaic-monosomy-59-x0-dairy-heifer-detected-using-routinely-available-single-nucleotide-polymorphism-genotype-data
#11
D P Berry, A Wolfe, J O'Donovan, N Byrne, R G Sayers, K G Dodds, J C McEwan, R E O'Connor, M McClure, D C Purfield
Evidence exists from a range of species on the impact of karyotype abnormalities on reproductive performance. Despite this, cytogenetic analyses of cattle, especially females, are not routinely undertaken. Genome-wide single nucleotide polymorphism (SNP) genotype data are now, however, routinely being generated in many species globally at a relatively low cost. The objective of the present study was to evaluate the potential of routinely available SNP genotype data to identify sex-chromosome aberrations using X chromosome monosomy 59,X0 as a case study for illustration...
March 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28377454/cellular-prion-protein-prpc-and-ecto-5-nucleotidase-are-markers-of-the-cellular-stress-response-to-aneuploidy
#12
Patrícia Henriques Domingues, Lalitha S Y Nanduri, Katarzyna Seget, Sharavan V Venkateswaran, David Agorku, Cristina Viganó, Conrad von Schubert, Erich A Nigg, Charles Swanton, Rocio Sotillo, Andreas Bosio, Zuzana Storchová, Olaf Hardt
Aneuploidy is a hallmark of most human tumors, but the molecular physiology of aneuploid cells is not well characterized. In this study, we screened cell surface biomarkers of ~300 proteins by multiparameter flow cytometry using multiple aneuploid model systems such as cell lines, patient samples and mouse models. Several new biomarkers were identified with altered expression in aneuploid cells, including overexpression of the cellular prion protein CD230/PRPC and the immunosuppressive cell surface enzyme ecto-5'-nucleotidase CD73...
April 4, 2017: Cancer Research
https://www.readbyqxmd.com/read/28369516/comprehensive-chromosome-screening-and-gene-expression-analysis-from-the-same-biopsy-in-human-preimplantation-embryos
#13
Diego Marin, Yujue Wang, Xin Tao, Richard T Scott, Nathan R Treff
STUDY QUESTION: Can simultaneous comprehensive chromosome screening (CCS) and gene expression analysis be performed on the same biopsy of preimplantation human embryos? SUMMARY ANSWER: For the first time, CCS and reliable gene expression analysis have been performed on the same human preimplantation embryo biopsy. WHAT IS KNOWN ALREADY: A single trophectoderm (TE) biopsy is routinely used for many IVF programs offering CCS for selection of only chromosomally normal embryos for transfer...
March 23, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28369513/identification-and-characterization-of-aurora-kinase-b-and-c-variants-associated-with-maternal-aneuploidy
#14
Alexandra L Nguyen, Diego Marin, Anbo Zhou, Amanda S Gentilello, Evan M Smoak, Zubing Cao, Anastasia Fedick, Yujue Wang, Deanne Taylor, Richard T Scott, Jinchuan Xing, Nathan Treff, Karen Schindler
STUDY QUESTION: Are single nucleotide variants (SNVs) in Aurora kinases B and C associated with risk of aneuploid conception? SUMMARY ANSWER: Two SNVs were found in patients with extreme aneuploid concepti rates with respect to their age; one variant, AURKC p.I79V, is benign, while another, AURKB p.L39P, is a potential gain-of-function mutant with increased efficiency in promoting chromosome alignment. WHAT IS KNOWN ALREADY: Maternal age does not always predict aneuploidy risk, and rare gene variants can be drivers of disease...
March 25, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28357876/noninvasive-prenatal-screening-for-fetal-common-sex-chromosome-aneuploidies-from-maternal-blood
#15
Bin Zhang, Bei-Yi Lu, Bin Yu, Fang-Xiu Zheng, Qin Zhou, Ying-Ping Chen, Xiao-Qing Zhang
Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28356328/technology-versus-biology-the-limits-of-pre-implantation-genetic-screening-better-methods-to-detect-the-origin-of-aneuploidy-in-pre-implantation-embryos-could-improve-the-success-rate-of-artificial-reproduction
#16
https://www.readbyqxmd.com/read/28347334/is-the-hypothesis-of-preimplantation-genetic-screening-pgs-still-supportable-a-review
#17
REVIEW
Norbert Gleicher, Raoul Orvieto
The hypothesis of preimplantation genetic diagnosis (PGS) was first proposed 20 years ago, suggesting that elimination of aneuploid embryos prior to transfer will improve implantation rates of remaining embryos during in vitro fertilization (IVF), increase pregnancy and live birth rates and reduce miscarriages. The aforementioned improved outcome was based on 5 essential assumptions: (i) Most IVF cycles fail because of aneuploid embryos. (ii) Their elimination prior to embryo transfer will improve IVF outcomes...
March 27, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#18
REVIEW
Hannah Skrzypek, Lisa Hui
Our concept of nucleic acid biology has advanced dramatically over the past two decades, with a growing appreciation that cell-free DNA (cfDNA) fragments are present in all body fluids including plasma. In no other field has plasma DNA been as rapidly translated into clinical practice as in noninvasive prenatal testing (NIPT) for fetal chromosome abnormalities. NIPT is a screening test that requires confirmation with diagnostic testing, but other applications of cfDNA provide diagnostic information and do not require invasive testing...
February 28, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28327375/value-of-placental-volume-and-vascular-flow-indices-as-predictors-of-intrauterine-growth-retardation
#19
Nieves L González-González, Enrique González-Dávila, Lidia González Marrero, Erika Padrón, José R Conde, Walter Plasencia
OBJECTIVE: To evaluate the utility of first-trimester placental volume and vascular flow indices to predict intrauterine growth retardation (IUGR). STUDY DESIGN: In 1004 singleton pregnancies attending routine care we recorded maternal characteristics, biophysical and biochemical factors included in the first trimester screening for aneuploidy (FTSA) and uterine artery pulsatility index (PI). Placental volume, Vascularization Index, Flow Index and Vascularization Flow Index were obtained...
March 6, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#20
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
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