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Aneuploidy

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https://www.readbyqxmd.com/read/29781076/first-trimester-combined-screening-for-fetal-aneuploidies-enhanced-with-additional-ultrasound-markers-an-8-year-prospective-study
#1
Dragos Nemescu, Adina Bratie, Alexandra Mihaila, Dan Navolan, Adina Tanase
OBJECTIVES: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study. MATERIAL AND METHODS: We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45-84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A)...
2018: Ginekologia Polska
https://www.readbyqxmd.com/read/29779145/comprehensive-genetic-testing-for-female-and-male-infertility-using-next-generation-sequencing
#2
Bonny Patel, Sasha Parets, Matthew Akana, Gregory Kellogg, Michael Jansen, Chihyu Chang, Ying Cai, Rebecca Fox, Mohammad Niknazar, Roman Shraga, Colby Hunter, Andrew Pollock, Robert Wisotzkey, Malgorzata Jaremko, Alex Bisignano, Oscar Puig
PURPOSE: To develop a comprehensive genetic test for female and male infertility in support of medical decisions during assisted reproductive technology (ART) protocols. METHODS: We developed a next-generation sequencing (NGS) gene panel consisting of 87 genes including promoters, 5' and 3' untranslated regions, exons, and selected introns. In addition, sex chromosome aneuploidies and Y chromosome microdeletions were analyzed concomitantly using the same panel. RESULTS: The NGS panel was analytically validated by retrospective analysis of 118 genomic DNA samples with known variants in loci representative of female and male infertility...
May 19, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29778385/frequencies-of-chromosome-specific-mosaicisms-in-trophoectoderm-biopsies-detected-by-next-generation-sequencing
#3
Gary Nakhuda, Chen Jing, Rachel Butler, Colleen Guimond, Jason Hitkari, Elizabeth Taylor, Niamh Tallon, Albert Yuzpe
OBJECTIVE: To examine the chromosome-specific frequencies of mosaicism detected by next-generation sequencing (NGS) compared with constitutional aneuploidy. DESIGN: Retrospective cross-sectional review of NGS results from trophectoderm biopsies analyzed by per-chromosome prevalence of mosaicism and constitutional aneuploidy. SETTING: Private fertility clinic. PATIENT(S): A total of 378 patients who underwent preimplantation genetic screening by NGS for routine clinical indications from February 2016 to April 2017...
May 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29773658/detecting-quantifying-and-discriminating-the-mechanism-of-mosaic-chromosomal-aneuploidies-using-mad-seq
#4
Yu Kong, Esther R Berko, Anthony Marckette, Shahina B Maqbool, Claudia A Simões-Pires, David F Kronn, Qian K Ye, Masako Suzuki, Adam Auton, John Greally
Current approaches to detect and characterize mosaic chromosomal aneuploidy are limited by sensitivity, efficiency, cost or the need to culture cells. We describe the mosaic aneuploidy detection by massively-parallel sequencing (MAD-seq) capture assay and the MADSEQ analytical approach that allow low (<10%) levels of mosaicism for chromosomal aneuploidy or regional loss of heterozygosity to be detected, assigned to a meiotic or mitotic origin, and quantified as a proportion of the cells in the sample. We show results from a multi-ethnic MAD-seq (meMAD-seq) capture design that works equally well in populations of diverse racial and ethnic origins, and how the MADSEQ analytical approach can be applied to exome or whole genome sequencing data, revealing previously unrecognized aneuploidy or copy number neutral loss of heterozygosity in samples studied by the 1000 Genomes project, cell lines from public repositories, and one of the Illumina Platinum Genomes samples...
May 17, 2018: Genome Research
https://www.readbyqxmd.com/read/29772067/dna-content-analysis-of-colorectal-serrated-lesions-detects-an-aneuploid-subset-of-inflammatory-bowel-disease-associated-serrated-epithelial-change-and-traditional-serrated-adenomas
#5
Won-Tak Choi, Kwun Wah Wen, Peter S Rabinovitch, Danning Huang, Aras N Mattis, Ryan M Gill
AIMS: Serrated lesions (SLs), including sessile serrated adenoma (SSA) and traditional serrated adenoma (TSA), are important premalignant lesions for colorectal cancer (CRC). Although a small subset of SLs are known to harbor TP53 mutations and Wnt/β-catenin pathway activation, suggesting that they may develop dysplasia or CRC via a 'chromosomal instability (CIN)-like' pathway, it is unclear if aneuploidy (characteristic of conventional adenoma) ever develops in SLs and is associated with development of dysplasia or CRC, in this context...
May 17, 2018: Histopathology
https://www.readbyqxmd.com/read/29770994/syndromes-associated-with-holoprosencephaly
#6
Paul Kruszka, Maximilian Muenke
Holoprosencephaly (HPE) is partial or complete failure of the forebrain to divide into hemispheres and can be an isolated finding or associated with a syndrome. Most cases of HPE are associated with a syndrome and roughly 40%-60% of fetuses with HPE have trisomy 13 which is the most common etiology of HPE. Other syndromes associated with HPE include additional aneuploidies like trisomy 18 and single gene disorders such as Smith-Lemli-Opitz syndrome. There are a number of syndromes such as pseudotrisomy 13 which do not have a known molecular etiology; therefore, this review has two parts: syndromes with a molecular diagnosis and syndromes where the etiology is yet to be found...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29766818/cell-free-fetal-dna-a-novel-biomarker-for-early-prediction-of-pre-eclampsia-and-other-obstetric-complications
#7
Naina Kumar, Amit Kant Singh
Hypertensive disorder of pregnancy, especially Pre-eclampsia is one of the major causes of increased maternal and perinatal morbidity and mortality all over the world. Early prediction of pre-eclampsia is the need of modern obstetrics, as this can timely prevent the progress of disease as well as related fetal and maternal morbidity and mortality. In addition to the screening of fetal aneuploidies, Rhesus-D status, fetal sex, single gene disorders, the cell-free fetal Deoxyribonucleic acid (DNA) quantification has emerged out as a promising biomarker for prediction of pre-eclampsia...
May 16, 2018: Current Hypertension Reviews
https://www.readbyqxmd.com/read/29766388/molecular-evolution-of-metaplasia-to-adenocarcinoma-in-the-esophagus
#8
REVIEW
William M Grady, Ming Yu
Esophageal adenocarcinoma (EAC) develops from Barrett's esophagus (BE), a condition where the normal squamous epithelia is replaced by specialized intestinal metaplasia in response to chronic gastroesophageal acid reflux. In a minority of individuals, BE can progress to low- and high-grade dysplasia and eventually to intra-mucosal and then invasive carcinoma. BE provides researchers with a unique model to characterize the process by which a carcinoma arises from its precursor lesion. Molecular studies of BE have demonstrated that it is not simply a metaplastic tissue, but rather it harbors frequent alterations that are also present in dysplastic BE and in EAC...
May 15, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29765675/-leishmania-naiffi-and-leishmania-guyanensis-reference-genomes-highlight-genome-structure-and-gene-evolution-in-the-viannia-subgenus
#9
Simone Coughlan, Ali Shirley Taylor, Eoghan Feane, Mandy Sanders, Gabriele Schonian, James A Cotton, Tim Downing
The unicellular protozoan parasite Leishmania causes the neglected tropical disease leishmaniasis, affecting 12 million people in 98 countries. In South America, where the Viannia subgenus predominates, so far only L. ( Viannia ) braziliensis and L. ( V. ) panamensis have been sequenced, assembled and annotated as reference genomes. Addressing this deficit in molecular information can inform species typing, epidemiological monitoring and clinical treatment. Here, L. ( V. ) naiffi and L. ( V. ) guyanensis genomic DNA was sequenced to assemble these two genomes as draft references from short sequence reads...
April 2018: Royal Society Open Science
https://www.readbyqxmd.com/read/29763964/incidental-fetal-ultrasound-findings-interpretation-and-management
#10
Rebekah Kaplan, Sharon Adams
Ultrasonography is a common component of prenatal care worldwide and is often used in early pregnancy to determine gestational age, number of fetuses, fetal cardiac activity, and placental location. Patients and their families may also consider ultrasonography a social event, as it provides confirmation and reassurance of a normal pregnancy. Ultrasound screening is typically scheduled in the second trimester to visualize fetal anatomy and confirm gestational age. Most ultrasound examinations are reassuring, but some incidentally identify structural anomalies and soft markers for aneuploidy, making it necessary for health care providers to correctly interpret these findings...
May 15, 2018: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/29760781/understanding-aneuploidy-in-cancer-through-the-lens-of-system-inheritance-fuzzy-inheritance-and-emergence-of-new-genome-systems
#11
REVIEW
Christine J Ye, Sarah Regan, Guo Liu, Sarah Alemara, Henry H Heng
Background: In the past 15 years, impressive progress has been made to understand the molecular mechanism behind aneuploidy, largely due to the effort of using various -omics approaches to study model systems (e.g. yeast and mouse models) and patient samples, as well as the new realization that chromosome alteration-mediated genome instability plays the key role in cancer. As the molecular characterization of the causes and effects of aneuploidy progresses, the search for the general mechanism of how aneuploidy contributes to cancer becomes increasingly challenging: since aneuploidy can be linked to diverse molecular pathways (in regards to both cause and effect), the chances of it being cancerous is highly context-dependent, making it more difficult to study than individual molecular mechanisms...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29756331/mammalian-x-chromosome-dosage-compensation-perspectives-from-the-germ-line
#12
REVIEW
Mahesh N Sangrithi, James M A Turner
Sex chromosomes are advantageous to mammals, allowing them to adopt a genetic rather than environmental sex determination system. However, sex chromosome evolution also carries a burden, because it results in an imbalance in gene dosage between females (XX) and males (XY). This imbalance is resolved by X dosage compensation, which comprises both X chromosome inactivation and X chromosome upregulation. X dosage compensation has been well characterized in the soma, but not in the germ line. Germ cells face a special challenge, because genome wide reprogramming erases epigenetic marks responsible for maintaining the X dosage compensated state...
May 14, 2018: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29746572/evaluation-of-a-novel-non-invasive-preimplantation-genetic-screening-approach
#13
Valeriy Kuznyetsov, Svetlana Madjunkova, Ran Antes, Rina Abramov, Gelareh Motamedi, Zenon Ibarrientos, Clifford Librach
OBJECTIVE: To assess whether embryonic DNA isolated from blastocyst culture conditioned medium (BCCM) combined with blastocoel fluid (BF) could be used for blastocyst stage non-invasive preimplantation genetic testing for chromosomal aneuploidy (non-invasive preimplantation genetic screening, NIPGS). PATIENTS: 47 embryos from 35 patients undergoing IVF. INTERVENTIONS: DNA analysis of combined BCCM plus BF in comparison with trophectoderm (TE) biopsy and/or whole blastocyst (WB)using next generation sequencing (NGS)...
2018: PloS One
https://www.readbyqxmd.com/read/29746474/analysis-of-motor-dysfunction-in-down-syndrome-reveals-motor-neuron-degeneration
#14
Sheona Watson-Scales, Bernadett Kalmar, Eva Lana-Elola, Dorota Gibbins, Federica La Russa, Frances Wiseman, Matthew Williamson, Rachele Saccon, Amy Slender, Anna Olerinyova, Radma Mahmood, Emma Nye, Heather Cater, Sara Wells, Y Eugene Yu, David L H Bennett, Linda Greensmith, Elizabeth M C Fisher, Victor L J Tybulewicz
Down Syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and results in a spectrum of phenotypes including learning and memory deficits, and motor dysfunction. It has been hypothesized that an additional copy of a few Hsa21 dosage-sensitive genes causes these phenotypes, but this has been challenged by observations that aneuploidy can cause phenotypes by the mass action of large numbers of genes, with undetectable contributions from individual sequences. The motor abnormalities in DS are relatively understudied-the identity of causative dosage-sensitive genes and the mechanism underpinning the phenotypes are unknown...
May 10, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29745012/clinical-results-after-the-implementation-of-cell-free-fetal-dna-detection-in-maternal-plasma
#15
Cristina Martínez-Payo, Isabel Bada-Bosch, María Martínez-Moya, Tirso Pérez-Medina
AIM: Detection of cell-free fetal DNA in maternal blood is a type of noninvasive prenatal diagnosis test (NIPT), which has already been known for some time but has not yet been introduced in most of public hospitals in Spain. How the implementation of cell-free fetal DNA (cffDNA) in a contingent protocol has influenced the aneuploidy screening in our hospital is described. METHODS: Two cohorts of patients with positive combined screening were compared: the first one (years 2012-2013, 5747 patients) from a period of time in which the protocol valid until March 2016 - that included the use of invasive procedures - was applied; and the second one in which the current protocol - that included NIPT versus invasive procedures - was applied (first 7 months after protocol implementation, 898 patients)...
May 10, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29739404/a-child-with-multiple-congenital-anomalies-due-to-partial-trisomy-7q22-1-%C3%A2-qter-resulting-from-a-maternally-inherited-balanced-translocation-a-case-report-and-review-of-literature
#16
C S Paththinige, N D Sirisena, U G I U Kariyawasam, R C Ediriweera, P Kruszka, M Muenke, V H W Dissanayake
BACKGROUND: Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations...
May 8, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29739397/integrative-analyses-of-genes-and-microrna-expressions-in-human-trisomy-21-placentas
#17
Ji Hyae Lim, You Jung Han, Hyun Jin Kim, Moon Young Kim, So Yeon Park, Youl-Hee Cho, Hyun Mee Ryu
BACKGROUND: The most frequent chromosomal aneuploidy is trisomy 21 (T21) that is caused by an extra copy of chromosome 21. The imbalance of whole genome including genes and microRNAs contributes to the various phenotypes of T21. However, the integrative association between genes and microRNAs in the T21 placenta has yet to be determined. METHODS: We analyzed the expressions of genes and microRNAs in the whole genomes of chorionic villi cells from normal and T21 human fetal placentas based on our prior studies...
May 9, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29737065/-clinical-application-assessment-of-karyolite-bobs-combined-with-qf-pcr-in-the-detection-of-products-of-conception
#18
Hang Su, Hong-Mei Zhu, Ling-Ping Li, Ze Du, Yang Zeng, Ting Hu, Zhu Zhang, Shan-Ling Liu, He Wang
OBJECTIVE: To assess the accuracy and discuss the feasibility of KaryoLite bacterial artificial chromosome on beads (KL-BoBs) and quantitative fluorescent polymerase chain reaction (QF-PCR) in genetic testing of products of conception (POC) by comparing with the chromosomal microarray analysis (CMA) test results. METHODS: Eighty-one cases of abortion samples were collected in the prenatal diagnosis center of West China Second University Hospital in Sichuan University from May to August 2016,including 61 cases of placenta tissues,19 cases of fetal muscle tissues and 1 case of fetal liver tissue...
March 2018: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/29732662/survival-in-double-aneuploidy-involving-trisomy-18-and-sex-chromosome-trisomy-a-case-report-of-a-27-month-old-child-and-a-review-of-the-literature
#19
Takahide Watabe, Hiroshi Koga
Maternal meiotic nondisjunction can cause autosomal trisomy, such as trisomy 13, 18, and 21, and parental meiotic nondisjunction or post-zygotic nondisjunction can cause sex chromosome trisomy, such as XXX (triple X syndrome), XXY (Klinefelter syndrome), and XYY (XYY syndrome).
May 7, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29725911/continuous-embryo-culture-elicits-higher-blastulation-but-similar-cumulative-delivery-rates-than-sequential-a-large-prospective-study
#20
Danilo Cimadomo, C Scarica, R Maggiulli, G Orlando, D Soscia, L Albricci, S Romano, F Sanges, F M Ubaldi, L Rienzi
PURPOSE: To assess whether continuous embryo culture involves better embryological and/or clinical outcomes than sequential. METHODS: Prospective study at a private IVF center. All consecutive IVF cycles (September 2013-2015) fulfilling the inclusion criteria underwent embryo culture in either Continuous-Single-Culture-Media (CSCM, n = 972) or sequential media (Quinn's Advantage, n = 514), respectively. ICSI, blastocyst culture in either standard (MINC) or undisturbed (Embryoscope) incubation, transfer (until September 2016), and pregnancy follow-up (until September 2017) were performed...
May 3, 2018: Journal of Assisted Reproduction and Genetics
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