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Fetal microarray

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https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#1
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
#2
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
https://www.readbyqxmd.com/read/28889126/chromosomal-microarray-analysis-in-fetuses-with-growth-restriction-and-normal-karyotype-a-systematic-review-and-meta-analysis
#3
Antoni Borrell, Maribel Grande, Montse Pauta, Laia Rodriguez-Revenga, Francesc Figueras
OBJECTIVE: To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR). METHODS: This was a systematic review conducted in accordance with the PRISMA criteria. All articles identified in PubMed, Ovid Medline, and ISI Web of Knowledge (Web of Science) from January 2009 to November 2016 describing pathogenic copy number variants (CNVs) in fetuses with growth restriction were included...
September 9, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28889080/reprogramming-of-rabbit-induced-pluripotent-stem-cells-toward-epiblast-and-chimeric-competency-using-kr%C3%A3-ppel-like-factors
#4
Yann Tapponnier, Marielle Afanassieff, Irène Aksoy, Maxime Aubry, Anaïs Moulin, Lucas Medjani, Wilhelm Bouchereau, Chloé Mayère, Pierre Osteil, Jazmine Nurse-Francis, Ioannis Oikonomakos, Thierry Joly, Luc Jouneau, Catherine Archilla, Barbara Schmaltz-Panneau, Nathalie Peynot, Harmonie Barasc, Alain Pinton, Jérome Lecardonnel, Elen Gocza, Nathalie Beaujean, Véronique Duranthon, Pierre Savatier
Rabbit induced pluripotent stem cells (rbiPSCs) possess the characteristic features of primed pluripotency as defined in rodents and primates. In the present study, we reprogrammed rbiPSCs using human Krüppel-like factors (KLFs) 2 and 4 and cultured them in a medium supplemented with fetal calf serum and leukemia inhibitory factor. These cells (designated rbEKA) were propagated by enzymatic dissociation for at least 30 passages, during which they maintained a normal karyotype. This new culturing protocol resulted in transcriptional and epigenetic reconfiguration, as substantiated by the expression of transcription factors and the presence of histone modifications associated with naïve pluripotency...
September 5, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28886070/microrna-mir-301a-is-a-novel-cardiac-regulator-of-cofilin-2
#5
Ashraf Yusuf Rangrez, Phillip Hoppe, Christian Kuhn, Elisa Zille, Johanne Frank, Norbert Frey, Derk Frank
Calsarcin-1 deficient mice develop dilated cardiomyopathy (DCM) phenotype in pure C57BL/6 genetic background (Cs1-ko) despite severe contractile dysfunction and robust activation of fetal gene program. Here we performed a microRNA microarray to identify the molecular causes of this cardiac phenotype that revealed the dysregulation of several microRNAs including miR-301a, which was highly downregulated in Cs1-ko mice compared to the wild-type littermates. Cofilin-2 (Cfl2) was identified as one of the potential targets of miR-301a using prediction databases, which we validated by luciferase assay and mutation of predicted binding sites...
2017: PloS One
https://www.readbyqxmd.com/read/28882078/detection-of-fetal-duplication-16p11-2q12-1-by-next-generation-sequencing-of-maternal-plasma-and-invasive-diagnosis
#6
Min Chen, Xiao-Ying Fu, Yu-Qin Luo, Ye-Qing Qian, Ling Pan, Li-Ya Wang, Min-Yue Dong
OBJECTIVE: The objective of study is to report the feasibility of non-invasive prenatal screening (NIPS) combined with invasive detection by chromosomal analysis in identifying fetal duplication, providing clinical performance of NIPS on copy number variations (CNVs) detection. MATERIAL AND METHODS: NIPS was offered to a 35-year-old pregnant woman. Amniocentesis was performed to confirm the positive screening result. Fetal sample was detected by karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA)...
September 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28833278/whole-genome-sequencing-identifies-etiology-of-recurrent-male-intrauterine-fetal-death
#7
Omar Shehab, David J Tester, Nicholas C Ackerman, F Susan Cowchock, Michael J Ackerman
OBJECTIVE: To identify the underlying genetic cause for recurrent intrauterine fetal death (IUFD) of males. METHODS: Whole genome sequencing (WGS) was performed on DNA from 5 healthy obligatory carrier females and an unaffected male offspring of a multigenerational pedigree with recurrent second trimester IUFD of males (n=19). When documented, all deaths occurred at ≤ 20 weeks gestation. Hydrops fetalis was diagnosed at death in the most recent case. RESULTS: Following variant filtering based on a recessive X-linked inheritance pattern, a rare FOXP3 frame-shift mutation (p...
August 18, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28813466/comprehensive-comparison-of-neonate-and-adult-human-platelet-transcriptomes
#8
Eva Caparrós-Pérez, Raúl Teruel-Montoya, Mª José López-Andreo, Mª Carmen Llanos, José Rivera, Verónica Palma-Barqueros, Jose E Blanco, Vicente Vicente, Constantino Martínez, Francisca Ferrer-Marín
Understanding the underlying mechanisms of the well-substantiated platelet hyporeactivity in neonates is of interest given their implications for the clinical management of newborns, a population at higher bleeding risk than adults (especially sick and preterm infants), as well as for gaining insight into the regulatory mechanisms of platelet biology. Transcriptome analysis is useful in identifying mRNA signatures affecting platelet function. However, human fetal/neonatal platelet transcriptome analysis has never before been reported...
2017: PloS One
https://www.readbyqxmd.com/read/28807863/prenatal-diagnosis-of-complex-phenotype-in-a-13-week-old-fetus-with-an-interstitial-multigene-deletion-20q13-13-q13-2-by-chromosomal-microarray
#9
Feodora Stipoljev, Danka Miric-Tesanic, Tomislav Hafner, Maja Barbalic, Monika Logara, Ruzica Lasan-Trcic, Ana Vicic, Romana Gjergja-Juraski
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807814/development-of-a-chromosomal-microarray-test-for-the-detection-of-abnormalities-in-formalin-fixed-paraffin-embedded-products-of-conception-specimens
#10
Troy J Gliem, Umut Aypar
Testing the products of conception (POC) provides information regarding the cause of fetal loss, and helps determine the recurrence risk for future losses and chromosome abnormalities in subsequent pregnancies. Historically, the Mayo Clinic Cytogenetics Laboratory performed targeted fluorescent in situ hybridization (FISH) testing to identify aneuploidy of only certain chromosomes in formalin-fixed, paraffin-embedded (FFPE) POC samples. Chromosomal microarray (CMA) studies utilizing the Affymetrix OncoScan™ FFPE Assay can detect copy number changes across the genome...
August 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28777863/-application-of-chromosome-microarray-analysis-for-the-delineation-of-pathogenesis-for-fetal-ventriculomegaly
#11
Zhouzhou Li, Fang Fu, Tingying Lei, Ru Li, Xiangyi Jing, Xin Yang, Jin Han, Min Pan, Li Zhen, Can Liao
OBJECTIVE: To assess the value of genome-wide high-resolution chromosomal microarray analysis (CMA) for the delineation of pathogenesis for fetal ventriculomegaly diagnosed by ultrasound or magnetic resonance imaging (MRI). METHODS: Three hundred and forty-one cases of fetal ventriculomegaly were collected. The samples were grouped based on the extent of lateral ventricular dilatation, presence of additional features, site of occurrence, and the maternal age. All samples were subjected to karyotyping analysis...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771232/di-2-ethylhexyl-phthalate-exposure-impairs-meiotic-progression-and-dna-damage-repair-in-fetal-mouse-oocytes-in-vitro
#12
Jing-Cai Liu, Fang-Nong Lai, Ling Li, Xiao-Feng Sun, Shun-Feng Cheng, Wei Ge, Yu-Feng Wang, Lan Li, Xi-Feng Zhang, Massimo De Felici, Paul W Dyce, Wei Shen
Di (2-ethylhexyl) phthalate (DEHP), is the most common member of the class of phthalates that are used as plasticizers and have become common environmental contaminants. A number of studies have shown that DEHP exposure impacts reproductive health in both male and female mammals by acting as an estrogen analog. Here, we investigated the effects of DEHP on meiotic progression of fetal mouse oocytes by using an in vitro model of ovarian tissue culture. The results showed that 10 or 100 μM DEHP exposure inhibited the progression of oocytes throughout meiotic prophase I, specifically from the pachytene to diplotene stages...
August 3, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28760667/cell-adhesion-molecules-expression-pattern-indicates-that-somatic-cells-arbitrate-gonadal-sex-of-differentiating-bipotential-fetal-mouse-gonad
#13
Rafal P Piprek, Michal Kolasa, Dagmara Podkowa, Malgorzata Kloc, Jacek Z Kubiak
Unlike other organ anlagens, the primordial gonad is sexually bipotential in all animals. In mouse, the bipotential gonad differentiates into testis or ovary depending on the genetic sex (XY or XX) of the fetus. During gonad development cells segregate, depending on genetic sex, into distinct compartments: testis cords and interstitium form in XY gonad, and germ cell cysts and stroma in XX gonad. However, our knowledge of mechanisms governing gonadal sex differentiation remains very vague. Because it is known that adhesion molecules (CAMs) play a key role in organogenesis, we suspected that diversified expression of CAMs should also play a crucial role in gonad development...
July 28, 2017: Mechanisms of Development
https://www.readbyqxmd.com/read/28749819/engraftment-and-repopulation-potential-of-late-gestation-fetal-rat-hepatocytes
#14
Joan M Boylan, Heather Francois-Vaughan, Philip A Gruppuso, Jennifer A Sanders
BACKGROUND: The limited availability of donor organs has led to a search for alternatives to liver transplantation to restore liver function and bridge patients to transplantation. We have shown that the proliferation of late gestation (embryonic day 19) fetal rat hepatocytes is mitogen-independent and that mechanisms regulating mRNA translation, cell cycle progression, and gene expression differ from those of adult rat hepatocytes. In the present study, we investigated whether E19 fetal hepatocytes can engraft and repopulate an injured adult liver...
October 2017: Transplantation
https://www.readbyqxmd.com/read/28727969/fetal-dysmorphology-still-an-essential-art-analysis-of-the-limitations-of-microarray-in-a-fetal-population-and-a-look-toward-the-genome-sequencing-era
#15
E Fletcher, M Porteous, K J McKenzie, E J Maher, M J Evans
Cytogenomic microarray allows assessment of the genome at higher resolutions than traditional karyotyping. The objective of this study is to evaluate the utility of microarray in a routine fetal autopsy setting before the advent of routine fetal exome/genome sequencing and the issues these technologies may generate. A systematic review of fetal postmortems at 12-24 weeks gestation between January 2011 and December 2014 was undertaken. Cases where there was no consent for audit, research, or genetic testing were excluded as were cases referred to the Procurator Fiscal, stillbirths, and neonatal deaths...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28711366/-contribution-of-chromosomal-microarray-analysis-by-a-multidisciplinary-prenatal-diagnosis-center
#16
C Bartholmot, E Mousty, F Grosjean, Y Petrov, P Khau Van Kien, J Chiesa, V Letouzey
OBJECTIVE: Chromosomal analysis by array CGH is a cytogenetic technique that has opened its application to prenatal diagnosis in recent years. The main objective of the study was to analyze the contribution for couples using chromosomal analysis by array CGH in a CPDPN. METHODS: A retrospective cohort study was conducted in 2015 in a CPDPN. All the patients with array CGH analysis were included in the study. The analysis indications were CN≥3.5mm, ultrasound signs, intra-uterine growth retardation and fetal deaths...
July 12, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/28700439/genital-rhabdomyoma-of-the-lower-female-genital-tract-a-study-of-12-cases-with-molecular-cytogenetic-findings
#17
J Kenneth Schoolmeester, Deyin Xing, Gary L Keeney, William R Sukov
Of the subtypes of extracardiac rhabdomyoma, genital rhabdomyoma is most uncommon and is occasionally classified as fetal rhabdomyoma due to morphologic similarities. In contrast to other forms of rhabdomyoma, the genetic alterations of genital rhabdomyoma are unknown. The clinical and pathologic findings in 12 cases were reviewed and 2 cases were processed for whole genome copy number analysis by single nucleotide polymorphism microarray. Twelve patients ranged in age from 43 to 65 yr (mean: 50.2 yr). Nine tumors arose in the vagina and 3 in the cervix, with their greatest dimension spanning 0...
July 11, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28688121/assessing-the-cost-of-implementing-the-2011-society-of-obstetricians-and-gynecologists-of-canada-and-canadian-college-of-medical-genetics-practice-guidelines-on-the-detection-of-fetal-aneuploidies
#18
Margaret Lilley, Stacey Hume, Nina Karpoff, Georges Maire, Sherry Taylor, Robert Tomaszewski, Maisa Yoshimoto, Susan Christian
BACKGROUND: The Society of Obstetricians and Gynecologists of Canada and the Canadian College of Medical Genetics published guidelines, in 2011, recommending replacement of karyotype with quantitative fluorescent polymerase chain reaction when prenatal testing is performed because of an increased risk of a common aneuploidy. STUDY OBJECTIVE: This study's objective is to perform a cost analysis following the implementation of quantitative fluorescent polymerase chain reaction as a stand-alone test...
July 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28654730/promises-pitfalls-and-practicalities-of-prenatal-whole-exome-sequencing
#19
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van der Veyver, Ronald Wapner, Lyn S Chitty
Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts. Thirty-one studies were identified, with diagnostic rates in series of five or more fetuses varying between 6.2% and 80%. Differences in inclusion criteria and trio versus singleton approaches to sequencing largely account for the wide range of diagnostic rates...
June 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28624828/unique-imaging-features-enabling-the-prenatal-diagnosis-of-developmental-venous-anomalies-a-persistent-echogenic-brain-lesion-drained-by-a-collecting-vein-in-contrast-with-normal-brain-parenchyma-on-mri
#20
Karina Krajden Haratz, Alon Peled, Boris Weizman, Liat Gindes, Mordechai Tamarkin, Dorit Lev, Dvora Kidron, Liat Ben-Sira, Gustavo Malinger, Tally Lerman-Sagie, Zvi Leibovitz
OBJECTIVE: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA). METHODS: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed. RESULTS: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals...
June 17, 2017: Fetal Diagnosis and Therapy
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