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Prenatal microarrays

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https://www.readbyqxmd.com/read/28040141/prenatal-diagnosis-of-smith-magenis-syndrome-in-two-fetuses-with-increased-nuchal-translucency-mild-lateral-ventriculomegaly-and-congenital-heart-defects
#1
Ting-Ying Lei, Ru Li, Fang Fu, Jun-Hui Wan, Yong-Ling Zhang, Xiang-Yi Jing, Can Liao
OBJECTIVE: Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1. Few cases have been reported in the medical literature regarding prenatal diagnosis of SMS. We report on the prenatal diagnosis of SMS in two fetuses with increased nuchal translucency (NT), mild lateral ventriculomegaly, and congenital heart defects by whole-genome and high-resolution chromosome microarray analysis (CMA)...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28019128/screening-of-potential-biomarkers-for-prenatal-diagnosis-of-trisomy-21
#2
Ke Ma, Feng Li, Yang Yu, Haibo Li
We aimed to identify key genes located on chromosome 21 as potential biomarkers for prenatal diagnosis of trisomy 21 (Ts21). The microarray data of GSE48051, including 10 cultivated amniocyte samples with Ts21 and 9 controls with normal euploid constitution, was obtained from Gene Expression Omnibus database. The differentially expressed genes (DEGs) in cultivated amniocyte samples with Ts21 compared to normal controls were screened using limma package. Then, we performed GO enrichment analysis using DAVID and chromosomal location of DEGs based on the information of the University of California Santa Cruz (UCSC) Genome Browser Database...
December 25, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27984613/-detection-of-a-fetus-with-paternally-derived-2q37-3-microdeletion-and-20p13p12-2-microduplication-using-whole-genome-microarray-technology
#3
Lin Zhang, Meihong Ren, Guining Song, Xuexia Liu, Jianliu Wang, Xiaohong Zhang
OBJECTIVE: To perform prenatal diagnosis for a fetus with multiple malformations. METHODS: The fetus was subjected to routine karyotyping and whole genome microarray analysis. The parents were subjected to high-resolution chromosome analysis. RESULTS: Fetal ultrasound at 28+4 weeks has indicated intrauterine growth restriction, left kidney agenesis, right kidney dysplasia, ventricular septal defect, and polyhydramnios. Chromosomal analysis showed that the fetus has a karyotype of 46,XY,der(2),der(20), t(2;20)(q37...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27984599/-application-of-chromosome-microarray-analysis-for-fetuses-with-multicystic-dysplastic-kidney
#4
Feifei Chen, Tingying Lei, Fang Fu, Ru Li, Yongling Zhang, Xiangyi Jing, Xin Yang, Jin Han, Li Zhen, Min Pan, Can Liao
OBJECTIVE: To explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA). METHODS: Seventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software. RESULTS: Conventional cytogenetic technique has revealed three fetuses (4...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27983596/estrogenic-endocrine-disrupting-chemicals-influencing-nrf1-regulated-gene-networks-in-the-development-of-complex-human-brain-diseases
#5
REVIEW
Mark Preciados, Changwon Yoo, Deodutta Roy
During the development of an individual from a single cell to prenatal stages to adolescence to adulthood and through the complete life span, humans are exposed to countless environmental and stochastic factors, including estrogenic endocrine disrupting chemicals. Brain cells and neural circuits are likely to be influenced by estrogenic endocrine disruptors (EEDs) because they strongly dependent on estrogens. In this review, we discuss both environmental, epidemiological, and experimental evidence on brain health with exposure to oral contraceptives, hormonal therapy, and EEDs such as bisphenol-A (BPA), polychlorinated biphenyls (PCBs), phthalates, and metalloestrogens, such as, arsenic, cadmium, and manganese...
December 13, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27966372/increased-first-trimester-nuchal-translucency-associated-with-a-dicentric-chromosome-and-9q34-3-microdeletion-syndrome
#6
Lv-Yin Huang, Yu Yang, Ping He, Dong-Zhi Li
We present prenatal diagnosis and chromosomal microarray analysis (CMA) of 9q34.3 microdeletion in a foetus with an increased nuchal translucency (NT). Conventional G-banding analysis showed a de novo translocation: 45, XX, dic (9;13)(q34;p13). CMA revealed a 3.6 Mb 9q34.3 microdeletion encompassing an OMIM gene of EHMT1 consistent with the diagnosis of Kleefstra syndrome and 9q subtelomeric deletion syndrome. We suggest an application of CMA at prenatal diagnosis in pregnancies with increased NT and an apparent balanced translocation on conventional karyotype...
December 14, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27914741/maternal-bcg-scar-is-associated-with-increased-infant-proinflammatory-immune-responses
#7
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...
January 5, 2017: Vaccine
https://www.readbyqxmd.com/read/27913546/diagnosing-von-willebrand-disease-genetic-analysis
#8
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
#9
Y Wang, Q Cheng, L Meng, C Luo, H Hu, J Zhang, J Cheng, T Xu, T Jiang, D Liang, P Hu, Z 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 single-nucleotide polymorphism (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
#10
(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
#11
(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
#12
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, Tak Yeung Leung, Kwong Wai Choy
OBJECTIVES: The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability and 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...
December 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27853526/recent-advances-in-prenatal-genetic-screening-and-testing
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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% to 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, workup performed during the pregnancy, and pregnancy outcomes were collected. RESULTS: Fetal echocardiography was performed in all cases; 61...
December 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
#19
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...
December 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
#20
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
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