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Prenatal microarrays

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https://www.readbyqxmd.com/read/27914741/maternal-bcg-scar-is-associated-with-increased-infant-proinflammatory-immune-responses
#1
Patrice Akusa Mawa, Emily L Webb, Abdelali Filali-Mouhim, Gyaviira Nkurunungi, Rafick-Pierre Sekaly, Swaib Abubaker Lule, Sarah Prentice, Stephen Nash, Hazel M Dockrell, Alison M Elliott, Stephen Cose
INTRODUCTION: Prenatal exposures such as infections and immunisation may influence infant responses. We had an opportunity to undertake an analysis of innate responses in infants within the context of a study investigating the effects of maternal mycobacterial exposures and infection on BCG vaccine-induced responses in Ugandan infants. MATERIAL AND METHODS: Maternal and cord blood samples from 29 mother-infant pairs were stimulated with innate stimuli for 24h and cytokines and chemokines in supernatants were measured using the Luminex® assay...
November 30, 2016: Vaccine
https://www.readbyqxmd.com/read/27913546/diagnosing-von-willebrand-disease-genetic-analysis
#2
Anne Goodeve
Investigation of a patient with possible von Willebrand disease (VWD) includes a range of phenotypic analyses. Often, this is sufficient to discern disease type, and this will suggest relevant treatment. However, for some patients, phenotypic analysis does not sufficiently explain the patient's disorder, and for this group, genetic analysis can aid diagnosis of disease type. Polymerase chain reaction and Sanger sequencing have been mainstays of genetic analysis for several years. More recently, next-generation sequencing has become available, with the advantage that several genes can be simultaneously analyzed where necessary, eg, for discrimination of possible type 2N VWD or mild hemophilia A...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27883173/clinical-application-of-snp-array-analysis-in-first-trimester-pregnancy-loss-a-prospective-study
#3
Yan Wang, Qing Cheng, Lulu Meng, Chunyu Luo, Huanran Hu, Jingjing Zhang, Jian Cheng, Tianhui Xu, Tao Jiang, Dong Liang, Ping Hu, Zhengfeng Xu
Chromosomal microarray analysis (CMA) has been used routinely in pediatric and prenatal genetic diagnosis in clinical practice, but it has rarely been applied to miscarriage analysis. In this study, we conducted a prospective study to evaluate the feasibility of CMA for genetic diagnosis of first-trimester miscarriage specimens. We successfully analyzed 551 fresh miscarriage specimens using SNP array. Among the specimens, 2.9% (16/551) had significant maternal cell contamination and were excluded from the study...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27875474/committee-opinion-no-682-microarrays-and-next-generation-sequencing-technology-the-use-of-advanced-genetic-diagnostic-tools-in-obstetrics-and-gynecology
#4
(no author information available yet)
Genetic technology has advanced dramatically in the past few decades, and its applications and use in caring for and counseling pregnant women has been transformational in the realm of prenatal diagnosis. Two of the newer genetic technologies in the prenatal setting are chromosomal microarray and whole-exome sequencing. Chromosomal microarray analysis is a method of measuring gains and losses of DNA throughout the human genome. It can identify chromosomal aneuploidy and other large changes in the structure of chromosomes as well as submicroscopic abnormalities that are too small to be detected by traditional modalities...
December 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27875471/committee-opinion-no-682-summary-microarrays-and-next-generation-sequencing-technology-the-use-of-advanced-genetic-diagnostic-tools-in-obstetrics-and-gynecology
#5
(no author information available yet)
Genetic technology has advanced dramatically in the past few decades, and its applications and use in caring for and counseling pregnant women has been transformational in the realm of prenatal diagnosis. Two of the newer genetic technologies in the prenatal setting are chromosomal microarray and whole-exome sequencing. Chromosomal microarray analysis is a method of measuring gains and losses of DNA throughout the human genome. It can identify chromosomal aneuploidy and other large changes in the structure of chromosomes as well as submicroscopic abnormalities that are too small to be detected by traditional modalities...
December 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27859473/prenatal-detection-of-10q22q23-duplications-dilemmas-in-phenotype-prediction
#6
Grace Wing Shan Kong, Ye Cao, Jin Huang, Kwun Yue Cheng, Amber Nolen Pursley, Jill Anne Rosenfeld, Janice G Edwards, Yiu Man Chan, Sau Wai Cheung, Tai Yeung Leung, Kwong Wai Choy
OBJECTIVES: The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability, dysmorphism to normal development. Interpreting the clinical significance of the duplication identified in this region is difficult, especially in the prenatal setting. This study aimed to characterize the prenatal findings associated with this submicroscopic imbalance and discuss the dilemmas in predicting the phenotype of 10q22q23 duplications. METHODS: This is a retrospective study of three cases of 10q22q23 duplications diagnosed prenatally by chromosomal microarray analysis...
November 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27853526/recent-advances-in-prenatal-genetic-screening-and-testing
#7
REVIEW
Ignatia B Van den Veyver
The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively...
2016: F1000Research
https://www.readbyqxmd.com/read/27846804/clinical-utility-of-array-comparative-genomic-hybridisation-in-prenatal-setting
#8
Luca Lovrecic, Ziga Iztok Remec, Marija Volk, Gorazd Rudolf, Karin Writzl, Borut Peterlin
BACKGROUND: The objective of reported study was to evaluate the clinical utility of prenatal microarray testing for submicroscopic genomic imbalances in routine prenatal settings and to stratify the findings according to the type of fetal ultrasound anomaly. METHODS: From July 2012 to October 2015 chromosomal microarray testing was performed in 218 fetuses with varying indications for invasive prenatal diagnosis: abnormal karyotype, ultrasound anomalies, pathogenic variant in previous pregnancy or carriership in a parent...
November 15, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27828868/prenatal-diagnosis-and-genetic-discoveries-of-an-intracranial-mixed-neuronal-glial-tumor-a-case-report-and-literature-review
#9
Lijuan Sun, Qingqing Wu, Yan Pei, Jinghua Li, Jintang Ye, Wenxue Zhi, Yan Liu, Puqing Zhang
BACKGROUND: Congenital intracranial tumors as a group are quite rare, representing only 0.5% to 1.5% of all pediatric brain neoplasms. CASE REPORT: We reported a case of congenital mixed neuronal-glial tumor detected by ultrasound at 30 weeks of gestation. It showed that the tumor was 2.5 × 2.3 × 2.1 cm in size, located in the sellar region, regular shape, and slightly heterogeneous solid mass with a little cystic component. No color flow was present inside the tumor, but the peripheral encirclement by arterial circle of Willis...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27828853/prenatal-sonographic-diagnosis-of-urorectal-septum-malformation-sequence-and-chromosomal-microarray-analysis-a-case-report-and-review-of-the-literature
#10
Yan Pei, Qingqing Wu, Yan Liu, Lijuan Sun, Wenxue Zhi, Puqing Zhang
INTRODUCTION: Urorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific sonographic features. We report a prenatally sonographic diagnosed case of the partial URSMS, and review the literature to summarize the prenatal features...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27817780/-identification-of-gene-mutation-and-prenatal-diagnosis-in-a-family-with-x-linked-ichthyosis
#11
Ji-Wei Huang, Ning Tang, Wu-Gao Li, Zhe-Tao Li, Shi-Qiang Luo, Jing-Wen Li, Jun Huang, Ti-Zhen Yan
X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27794172/clinical-aspects-of-prenatally-detected-congenital-heart-malformations-and-the-yield-of-chromosomal-microarray-analysis
#12
Rivka Sukenik-Halevy, Shay Sukenik, Arie Koifman, Yoav Alpert, Reli Hershkovitz, Alex Levi, Tal Biron-Shental
OBJECTIVE: The yield of chromosomal microarray analysis (CMA) for prenatally detected congenital heart defects (CHD) is 6.6-19.2%. We evaluated the yield of CMA in cases of prenatally detected CHD in regard to specific clinical characteristics. METHODS: Data from 192 cases of CHD including type, clinical and familial background, work-up performed during the pregnancy, and pregnancy outcomes were collected. RESULTS: Fetal echocardiography was performed in all cases...
October 28, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27794163/prenatal-diagnosis-of-submicroscopic-chromosomal-aberrations-in-fetuses-with-ventricular-septal-defects-by-chromosomal-microarray-based-analysis
#13
Liu Du, Hong-Ning Xie, Lin-Huan Huang, Ying-Jun Xie, Li-Hong Wu
OBJECTIVES: To evaluate the usefulness of chromosomal microarray analysis in fetuses with ventricular septal defects (VSDs) with or without associated anomalies and normal karyotype. METHODS: Fetuses with VSDs and normal karyotypes were investigated by using an Affymetrix CytoScan HD array. The cases were classified as isolated or nonisolated VSDs. RESULTS: Among the 52 VSD fetuses, 22 (42.3%) had isolated defects and 30 (57.7%) had additional other ultrasound anomalies...
October 28, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27777709/genetic-counseling-for-a-prenatal-diagnosis-of-structural-chromosomal-abnormality-with-high-resolution-analysis-using-a-single-nucleotide-polymorphism-microarray
#14
Akiko Takashima, Naoki Takeshita, Toshihiko Kinoshita
A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46, XY, add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male...
August 8, 2016: Clinics and Practice
https://www.readbyqxmd.com/read/27745839/structural-chromosomal-rearrangements-require-nucleotide-level-resolution-lessons-from-next-generation-sequencing-in-prenatal-diagnosis
#15
Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire E Redin, Ryan L Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F Crandall, Pamela Gerrol, Mark A Hayden, Naveed Hussain, Bibi Kanengisser-Pines, Sibel Kantarci, Brynn Levy, Michael J Macera, Fabiola Quintero-Rivera, Erica Spiegel, Blair Stevens, Janet E Ulm, Dorothy Warburton, Louise E Wilkins-Haug, Naomi Yachelevich, James F Gusella, Michael E Talkowski, Cynthia C Morton
In this exciting era of "next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide precise delineation of balanced chromosomal rearrangements at the nucleotide level. Given the increased risk of congenital abnormalities in newborns with de novo balanced chromosomal rearrangements, comprehensive interpretation of breakpoints could substantially improve prediction of phenotypic outcomes and support perinatal medical care...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27718505/optimization-of-techniques-for-multiple-platform-testing-in-small-precious-samples-such-as-human-chorionic-villus-sampling
#16
Margareta D Pisarska, Marzieh Akhlaghpour, Bora Lee, Gillian M Barlow, Ning Xu, Erica T Wang, Aaron J Mackey, Charles R Farber, Stephen S Rich, Jerome I Rotter, Yii-der I Chen, Mark O Goodarzi, Seth Guller, John Williams
BACKGROUND: Multiple testing to understand global changes in gene expression based on genetic and epigenetic modifications is evolving. Chorionic villi, obtained for prenatal testing, is limited, but can be used to understand ongoing human pregnancies. However, optimal storage, processing and utilization of CVS for multiple platform testing have not been established. RESULTS: Leftover CVS samples were flash-frozen or preserved in RNAlater. Modifications to standard isolation kits were performed to isolate quality DNA and RNA from samples as small as 2-5 mg...
November 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27718271/neuropsychiatric-aspects-of-22q11-2-deletion-syndrome-considerations-in-the-prenatal-setting
#17
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27690282/validation-of-a-chromosomal-microarray-for-prenatal-diagnosis-using-a-prospective-cohort-of-pregnancies-with-increased-risk-for-chromosome-abnormalities
#18
Dale Wright, Louise Carey, Siobhan Battersby, Thuy Nguyen, Melanie Clarke, Benjamin Nash, Elee Gulesserian, Jill Cross, Artur Darmanian
AIM: Validation of a chromosomal microarray for improved prenatal diagnosis for chromosomal abnormalities among high-risk pregnancies. METHODS: A cohort of 213 pregnancies was investigated by chromosomal microarray and the results were compared with quantitative fluorescent polymerase chain reaction (QF-PCR), karyotype, and 850K single-nucleotide polymorphism microarray results. The detection limit of mosaicism was determined by assaying different trisomy mosaic constructs down to ∼12%...
September 30, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27687291/transcriptomic-regulations-in-oligodendroglial-and-microglial-cells-related-to-brain-damage-following-fetal-growth-restriction
#19
Aline Rideau Batista Novais, Hoa Pham, Yohan Van de Looij, Miguel Bernal, Jerome Mairesse, Elodie Zana-Taieb, Marina Colella, Pierre-Henri Jarreau, Julien Pansiot, Florent Dumont, Stéphane Sizonenko, Pierre Gressens, Christiane Charriaut-Marlangue, Mickael Tanter, Charlie Demene, Daniel Vaiman, Olivier Baud
Fetal growth restriction (FGR) is a major complication of human pregnancy, frequently resulting from placental vascular diseases and prenatal malnutrition, and is associated with adverse neurocognitive outcomes throughout life. However, the mechanisms linking poor fetal growth and neurocognitive impairment are unclear. Here, we aimed to correlate changes in gene expression induced by FGR in rats and abnormal cerebral white matter maturation, brain microstructure, and cortical connectivity in vivo. We investigated a model of FGR induced by low-protein-diet malnutrition between embryonic day 0 and birth using an interdisciplinary approach combining advanced brain imaging, in vivo connectivity, microarray analysis of sorted oligodendroglial and microglial cells and histology...
December 2016: Glia
https://www.readbyqxmd.com/read/27647305/ep09-06-chromosomal-microarray-as-a-first-tier-test-following-diagnostic-prenatal-procedures-the-toronto-mount-sinai-hospital-experience
#20
N Alayed, N Okun, D Chitayat, E Kolomietz
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
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