keyword
MENU ▼
Read by QxMD icon Read
search

Fetal microarray

keyword
https://www.readbyqxmd.com/read/29143560/induced-pluripotent-stem-cells-derived-from-human-amnion-in-chemically-defined-conditions
#1
Jaroslav Slamecka, Steven McClellan, Anna Wilk, Javier Laurini, Elizabeth Manci, Simon P Hoerstrup, Benedikt Weber, Laurie Owen
Fetal stem cells are a unique type of adult stem cells that have been suggested to be broadly multipotent with some features of pluripotency. Their clinical potential has been documented but their upgrade to full pluripotency could open up a wide range of cell-based therapies particularly suited for pediatric tissue engineering, longitudinal studies or disease modeling. Here we describe episomal reprogramming of mesenchymal stem cells from the human amnion to pluripotency (AM-iPSC) in chemically defined conditions...
November 16, 2017: Cell Cycle
https://www.readbyqxmd.com/read/29131052/prenatal-screening-for-22q11-2-deletion-using-a-targeted-microarray-based-cell-free-dna-test
#2
Maximilian Schmid, Eric Wang, Patrick E Bogard, Elisa Bevilacqua, Coleen Hacker, Susie Wang, Jigna Doshi, Karen White, Jennifer Kaplan, Andrew Sparks, Jacques C Jani, Renee Stokowski
OBJECTIVE: To determine the performance of a targeted microarray-based cell-free DNA (cfDNA) test (Harmony Prenatal Test®) for the identification of pregnancies at increased risk for 22q11.2 deletion. METHODS: Test performance was determined in 2 steps including a total of 1,953 plasma samples. Analytical validation was performed in 1,736 plasma samples. Clinical verification of performance was performed in an additional 217 prospectively ascertained samples from pregnancies with fetal deletion status determined by diagnostic testing...
November 8, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-nipt-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#3
Yvonne Kwun Yue Cheng, Wing Cheong Leung, Tak Yeung Leung, Kwong Wai Choy, Rossa Wai Kwun Chiu, Tsz-Kin Lo, Ka Yin Kwok, Daljit Singh Sahota
OBJECTIVE: To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing...
November 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29115077/identification-of-epstein-barr-virus-in-the-human-placenta-and-its-pathologic-characteristics
#4
Younghoon Kim, Hye Sung Kim, Joong Shin Park, Chong Jai Kim, Woo Ho Kim
Epstein-Barr virus (EBV), a common pathogen in humans, is suspected as the cause of multiple pregnancy-related pathologies including depression, preeclampsia, and stillbirth. Moreover, transmission of EBV through the placenta has been reported. However, the focus of EBV infection within the placenta has remained unknown to date. In this study, we proved the expression of latent EBV genes in the endometrial glandular epithelial cells of the placenta and investigated the cytological characteristics of these cells...
December 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29113465/porcine-neural-progenitor-cells-derived-from-tissue-at-different-gestational-ages-can-be-distinguished-by-global-transcriptome
#5
Jing Yang, Steven Menges, Ping Gu, Ronald Tongbai, Melissa Samuel, Randall S Prather, Henry Klassen
The impact of gestational age on mammalian neural progenitor cells is potentially important for both an understanding of neural development and the selection of donor cells for novel cell-based treatment strategies. In terms of the latter, it can be problematic to rely entirely on rodent models in which the gestational period is significantly shorter and the brain much smaller than is the case in humans. Here, we analyzed pig brain progenitor cells (pBPCs) harvested at 2 different gestational ages (E45 and E60) using gene expression profiles, obtained by microarray analysis and quantitative polymerase chain reaction (qPCR), across time in culture...
September 2017: Cell Transplantation
https://www.readbyqxmd.com/read/29113181/microrna-profiling-and-bioinformatics-analyses-reveal-the-potential-roles-of-micrornas-in-chordoma
#6
Kangwu Chen, Hao Chen, Kai Zhang, Siwei Sun, Jianqiang Mo, Jian Lu, Zhonglai Qian, Huilin Yang
Chordoma is a rare aggressive bone tumor arising from remnants of the notochord, and patients with chordoma have a poor prognosis. However, the unique expression profiles of microRNAs (miRNAs/miRs) and their downstream signaling pathways in chordoma remain incompletely characterized. The aim of the present study was to delineate the global miRNA expression profile and associated signaling networks in chordoma. miRNA profiling was performed on chordoma and fetal notochord tissues. Differentially expressed miRNAs in chordoma were analyzed using microarrays with hierarchical clustering analysis...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29093345/cytosolic-prostaglandin-e-synthase-is-involved-in-c-fos-expression-in-rat-fibroblastic-3y1-cells
#7
Yoshihito Nakatani, Yuki Miyazaki, Shuntaro Hara
Cytosolic prostaglandin (PG) E synthase (cPGES/p23) plays a role in the biosynthesis of PGE2 and in the molecular chaperone machinery. Studies of knockout mice lacking cPGES/p23 have demonstrated that cPGES/p23 is essential in fetal mouse development. A cDNA microarray analysis revealed that a lack of cPGES/p23 decreases the expression of some immediate early genes, such as c-fos and activating transcription factor 3 (ATF3). Here we report the involvement of cPGES/p23 in c-Fos expression. A stable knockdown of cPGES/p23 in cultured fibroblasts not only reduced serum-induced c-Fos expression, but also decreased the phosphorylation of extracellular signal regulated kinase (ERK)...
2017: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/29061174/de-novo-chromosome-7q36-1q36-2-triplication-in-a-child-with-developmental-delay-growth-failure-distinctive-facial-features-and-multiple-congenital-anomalies-a-case-report
#8
Muna A Al Dhaibani, Diane Allingham-Hawkins, Ayman W El-Hattab
BACKGROUND: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9, both located in 7q36.3, is believed to play roles in the phenotypes associated with these rearrangements. In this report we describe a child with 7q36...
October 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29060963/-prenatal-diagnosis-of-17q12-microdeletion-syndrome-in-fetal-renal-abnormalities
#9
Y L Jiang, Q W Qi, X Y Zhou, F F Geng, J J Bai, N Hao, J T Liu
Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys...
October 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29059453/what-s-new-in-prenatal-genetics-a-review-of-current-recommendations-and-guidelines
#10
Annalisa L Post, Amy T Mottola, Jeffrey A Kuller
Importance: The rapid development of prenatal genetic testing and screening tools and choices constantly challenges clinicians to stay up to date on current best practice. Objective: We sought to review, compare, and summarize recent national society guidelines on prepregnancy genetic screening and prenatal diagnosis for aneuploidy with a focus on changes and additions to previous guidelines. Evidence Acquisition: We performed a descriptive review of 8 recently published (2016-2017) national guidelines and updates on prenatal genetic screening and testing including American Congress of Obstetricians and Gynecologists committee opinions and practice bulletins, Society for Maternal-Fetal Medicine consult series publications, and an American College of Medical Genetics and Genomics position statement...
October 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/29049012/transcriptome-profiling-uncovers-potential-common-mechanisms-in-fetal-trisomies-18-and-21
#11
Marija Volk, Aleš Maver, Alenka Hodžić, Luca Lovrečić, Borut Peterlin
Human trisomies have recently been investigated using transcriptomics approaches to identify the gene expression (GE) signatures characteristic of each of these specific aneuploidy conditions. We hypothesized that the viability of cells with gross genomic imbalances might be associated with the activation of resilience mechanisms that are common to different trisomies and that are reflected by specific shared GE patterns. We report in this article our microarray GE analyses of amniocytes from fetuses with viable trisomy conditions, trisomy 21 or trisomy 18, to detect such common expression signatures...
October 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29045069/association-of-natural-killer-cell-ligand-polymorphism-hla-c-asn80lys-with-the-development-of-anti-ssa-ro-associated-congenital-heart-block
#12
Hannah C Ainsworth, Miranda C Marion, Tiziana Bertero, Antonio Brucato, Rolando Cimaz, Nathalie Costedoat-Chalumeau, Micaela Fredi, Patrick Gaffney, Jennifer Kelly, Kateri Levesque, Alice Maltret, Nathalie Morel, Veronique Ramoni, Amelia Ruffatti, Carl D Langefeld, Jill P Buyon, Robert M Clancy
OBJECTIVE: Fetal exposure to maternal anti-SSA/Ro antibodies is necessary but not sufficient for the development of autoimmune congenital heart block (CHB), suggesting that other factors, such as fetal genetic predisposition, are important. Given the previously described association between major histocompatibility complex alleles and CHB risk, we undertook the present study to test the hypothesis that a variant form of HLA-C Asn80Lys, which binds with high affinity to an inhibitory killer cell immunoglobulin-like receptor (KIR) and thus renders natural killer (NK) cells incapable of restricting inflammation, contributes to the development of CHB...
November 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29033309/ethical-considerations-in-prenatal-testing-genomic-testing-and-medical-uncertainty
#13
REVIEW
Anastasia Richardson, Kelly E Ormond
Prenatal diagnostic testing has recently progressed from karyotype to routinely available chromosomal microarray, and the potential for fetal whole exome sequencing, both through invasive diagnostic testing and, in some cases, non-invasive prenatal testing. These tests bring beneficence through providing a higher diagnostic yield, often with lower risks of miscarriage than previously available testing, but also raise the question of harms related to an increase in uncertain and unknown results. Some parents-to-be report a desire to learn as much information as possible prenatally, and there may be beneficence in providing them with this information...
October 12, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29032050/positive-predictive-value-estimates-for-cell-free-noninvasive-prenatal-screening-from-data-of-a-large-referral-genetic-diagnostic-laboratory
#14
Andrea K Petersen, Sau Wai Cheung, Janice L Smith, Weimin Bi, Patricia A Ward, Sandra Peacock, Alicia Braxton, Ignatia B Van Den Veyver, Amy M Breman
BACKGROUND: Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management...
October 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28990860/in-a-genomic-era-placental-pathology-still-holds-the-key-in-the-nondysmorphic-stillbirth
#15
Jamie Campbell, Kristy Armstrong, Nithiya Palaniappan, Eddy Maher, Mary Glancy, Mary Porteous, Kathryn J Mckenzie, Margaret J Evans
Objective To explore the relative utility of genetic testing in contrast to placental pathology in explaining causation of death in the structurally normal stillborn population. Methods A retrospective review of a structurally normal stillborn infant cohort in South East Scotland between 2011 and 2015, defined by death at or after 24 weeks of gestation. We reviewed pathology reports and collected demographic data on cases. This information was collated with genetic test results (quantitative fluorescent polymerase chain reaction and microarray analysis) and placental pathology to create a database for analysis...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28982025/pregnancy-associated-glycoproteins-in-cows-with-retained-fetal-membranes
#16
Reyhaneh Hooshmandabbasi, Holm Zerbe, Stefan Bauersachs, Noelita M de Sousa, Alois Boos, Karl Klisch
In cows, retained fetal membranes (RFM) are a major problem in reproduction. The timely detachment of fetal membranes after parturition requires well coordinated maturation processes in the placenta. One feature of placental maturation in cows is a prepartal decline in the number of binucleate trophoblast giant cells (BNC) in the fetal chorion. Pregnancy associated glycoproteins (PAGs) are a group of proteins, produced by trophoblast cells in artiodactyls. We studied aspects of PAG expression in cows with and without RFM...
January 1, 2018: Theriogenology
https://www.readbyqxmd.com/read/28981949/-result-of-prenatal-diagnosis-for-151-high-risk-women-by-noninvasive-prenatal-screening-based-on-high-throughput-sequencing
#17
Yifang Jia, Yan Zhang, Wanxiao Hao, Donghong Shi, Jinlai Meng, Heyong Zhao, Yan Lian, Luwen Xie, Xietong Wang
OBJECTIVE: To assess the value of combined fetal karyotyping and chromosomal microarray analysis (CMA) for the verification of high-risk pregnancy signaled by noninvasive prenatal screening (NIPS) based on high-throughput sequencing. METHODS: One hundred and fifty-one pregnant women with high risks for aneuploidies of chromosomes 13, 18, 21, X and Y or pathological copy number variations (CNVs) by NIPS were subjected to amniocytic karyotyping and CMA analysis. RESULTS: One hundred and forty-two women were found to have a high risk for fetal chromosomal aneuploidies, which included 83 cases of trisomy 21, 17 cases of trisomy 18, 2 cases of trisomy 13, and 40 cases of sex chromosome aneuploidies...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28976722/whole-exome-sequencing-as-a-diagnostic-adjunct-to-clinical-testing-in-a-tertiary-referral-cohort-of-3988-fetuses-with-structural-abnormalities
#18
Fang Fu, Ru Li, Yan Li, Zhi-Qiang Nie, Ting-Ying Lei, Dan Wang, Xin Yang, Jin Han, Min Pan, Li Zhen, Yan-Mei Ou, Jian Li, Fao-Tao Li, Xiang-Yi Jing, Dong-Zhi Li, Can Liao
OBJECTIVES: To evaluate the diagnostic yield of exome sequencing in diagnosing monogenic disorders in fetuses with structural malformations and to describe the information on pathogenic variants that is provided by exome sequencing. METHODS: Sequentially performed karyotyping, chromosomal microarray analysis(CMA) and WES on a retrospectively series of fetuses with structural abnormalities, diagnostic rates of three techniques overall and for phenotypic subgroups, and informations on pathogenic variants identified by exome sequencing...
October 4, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#19
M C de Wit, F Boekhorst, G M Mancini, L S Smit, I A L Groenenberg, J Dudink, F A T de Vries, A T J I Go, R J H Galjaard
OBJECTIVE: Isolated agenesis of the corpus callosum (ACC) on fetal ultrasound has a varied prognosis. Microarray and exome sequencing might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete ACC (cACC) on ultrasound. All cases were offered SNP array. Complementary exome sequencing (ES) was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for SNP array testing, which detected a causal anomaly in 2/18(11...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28915119/cytogenetic-analysis-in-fetuses-with-late-onset-abnormal-sonographic-findings
#20
Ron Bardin, Eran Hadar, Lylach Haizler-Cohen, Rinat Gabbay-Benziv, Israel Meizner, Sarit Kahana, Josepha Yeshaya, Shiri Yacobson, Lital Cohen-Vig, Ifaat Agmon-Fishman, Lina Basel-Vanagaite, Idit Maya
OBJECTIVE: To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings. DESIGN: Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings. RESULTS: All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed...
September 15, 2017: Journal of Perinatal Medicine
keyword
keyword
30259
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"