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Prenatal microarrays

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https://www.readbyqxmd.com/read/28627668/potential-genetic-damage-to-nematode-offspring-following-exposure-to-triclosan-during-pregnancy
#1
Aixia Zhang, Xiaohong Gu, Xiuping Wang, Lei Wang, Lihua Zeng, Xuemei Fan, Chen Jiang, Ziyi Fu, Xianwei Cui, Chenbo Ji, Hongming Qu, Xirong Guo
Triclosan (TCS) is widely used as broad-spectrum antibacterial agent. However, it may threaten the health of human offspring if the mother is exposed to TCS during pregnancy. The present study aimed to identify potential mechanisms behind the toxic effect of TCS on the offspring of Caenorhabditis elegans (C. elegans), using this nematode as a suitable animal model. The results of the current study demonstrated that the locomotory behavior and reproductive capacity of C. elegans offspring was severely affected by prenatal exposure to different concentrations of TCS...
June 13, 2017: Molecular Medicine Reports
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
#2
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
https://www.readbyqxmd.com/read/28604948/-clinical-significance-of-secondary-results-from-non-invasive-prenatal-testing
#3
Weilin Ke, Weihua Zhao, Shenqiu Jie, Qingqing Chen, Qing Li
OBJECTIVE: To assess the accuracy of copy number variations (CNVs) detection by non-invasive prenatal testing (NIPT) in addition to its routine targets and clinical significance of such CNVs for the reduction of fetuses born with chromosomal microdeletion/duplication syndromes. METHODS: From October 2014 to October 2015, 14 235 pregnant women volunteered to participate in the study. Fifteen cases detected with chromosomal CNVs by the NIPT decided to undergo prenatal diagnostic procedures including amniocentesis, G-banded karyotyping and chromosomal microarray analysis (CMA)...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604946/-application-of-chromosomal-microarray-analysis-in-prenatal-diagnosis-for-fetal-abnormalities-detected-by-ultrasonography
#4
Ting Hu, Jiamin Wang, Zhu Zhang, Hongmei Zhu, Hongqian Liu, Xuemei Zhang, Haixia Zhang, Ze Du, Lingping Li, He Wang, Shanling Liu
OBJECTIVE: To analyze the outcome of chromosomal microarray analysis (CMA) in prenatal diagnosis for fetal abnormalities detected by ultrasonography. METHODS: Amniotic fluid samples from 477 pregnancies with abnormal ultrasound findings but without common aneuploidies were detected by CMA with Affymetrix CytoScan 750K arrays. The results were analyzed with ChAS v3.0 software. RESULTS: Among the 477 samples, 24 (5.03%) were detected with pathogenic copy number variations (pCNVs) by CMA...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28600484/perinatal-case-of-fatal-simpson-golabi-behmel-syndrome-with-hyperplasia-of-seminiferous-tubules
#5
Nives Zimmermann, Jerzy Stanek
BACKGROUND Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive syndrome characterized by fetal overgrowth. CASE REPORT We present a case of a male infant with SGBS. Abnormal prenatal ultrasound (including congenital diaphragmatic hernia) prompted microarray testing of amniotic fluid cells, which showed deletion on chromosome Xq26.2 affecting the glypican-3 gene consistent with SGBS type I. The infant died six hours after birth and at autopsy showed features of SGBS, including macrosomia, organomegaly, diaphragmatic hernia with consequent pulmonary hypoplasia, cleft palate, large tongue with a midline groove, a supernumerary nipple, Meckel's diverticulum, and abnormal phalanges...
June 10, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28600059/molecular-genetic-characterization-of-a-prenatally-detected-de-novo-interstitial-deletion-of-chromosome-2q-2q31-1-q32-1-encompassing-hoxd13-znf385b-and-znf804a-associated-with-syndactyly-and-increased-first-trimester-nuchal-translucency
#6
Chih-Ping Chen, Chen-Ju Lin, Yen-Ni Chen, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of 2q (2q31.1-q32.1) and discuss the genotype-phenotype correlation. CASE REPORT: A 34-year-old, primigravid woman was referred to the hospital at 20 weeks of gestation for genetic counseling because of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1). She underwent amniocentesis at 17 weeks of gestation because of advanced maternal age and an increased first-trimester nuchal translucency (NT) thickness of 3...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28577551/clinical-diagnostic-exome-evaluation-for-an-infant-with-a-lethal-disorder-genetic-diagnosis-of-tarp-syndrome-and-expansion-of-the-phenotype-in-a-patient-with-a-newly-reported-rbm10-alteration
#7
Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones
BACKGROUND: Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. CASE PRESENTATION: We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Postnatal diagnostic exome studies (DES) were utilized to find a molecular diagnosis for the patient...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28518170/prenatal-exome-sequencing-in-anomalous-fetuses-new-opportunities-and-challenges
#8
Neeta L Vora, Bradford Powell, Alicia Brandt, Natasha Strande, Emily Hardisty, Kelly Gilmore, Ann Katherine M Foreman, Kirk Wilhelmsen, Chris Bizon, Jason Reilly, Phil Owen, Cynthia M Powell, Debra Skinner, Christine Rini, Anne D Lyerly, Kim A Boggess, Karen Weck, Jonathan S Berg, James P Evans
PurposeWe investigated the diagnostic and clinical performance of exome sequencing in fetuses with sonographic abnormalities with normal karyotype and microarray and, in some cases, normal gene-specific sequencing.MethodsExome sequencing was performed on DNA from 15 anomalous fetuses and from the peripheral blood of their parents. Parents provided consent to be informed of diagnostic results in the fetus, medically actionable findings in the parents, and their identification as carrier couples for significant autosomal recessive conditions...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#9
Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28516087/dna-sequence-analysis-in-clinical-medicine-proceeding-cautiously
#10
REVIEW
Moyra Smith
Delineation of underlying genomic and genetic factors in a specific disease may be valuable in establishing a definitive diagnosis and may guide patient management and counseling. In addition, genetic information may be useful in identification of at risk family members. Gene mapping and initial genome sequencing data enabled the development of microarrays to analyze genomic variants. The goal of this review is to consider different generations of sequencing techniques and their application to exome sequencing and whole genome sequencing and their clinical applications...
2017: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/28497001/klinefelter-syndrome-in-association-with-tetralogy-of-fallot-and-congenital-diaphragmatic-hernia
#11
Sethuraman Swaminathan, Sudheer R Gorla, Deborah S Barbouth
Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males. Major cardiovascular and diaphragmatic anomalies are uncommon in this syndrome. Here we report an infant with KS who had tetralogy of Fallot and congenital diaphragmatic hernia, all of which were identified prenatally and managed successfully after birth. Microarray analysis did not reveal any deletions or duplications other than the additional X-chromosome, to account for the additional abnormalities in this infant. To the authors' knowledge, this is the first such report of major cardiac and diaphragm anomaly occurring together, in an infant with KS...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28469860/first-reported-case-of-simpson-golabi-behmel-syndrome-in-a-female-fetus-diagnosed-prenatally-with-chromosomal-microarray
#12
Heidi Kristine Støve, Naja Becher, Vibike Gjørup, Mette Ramsing, Ida Vogel, Else Marie Vestergaard
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked syndrome. Female carriers may have mild manifestations. Macrosomia, polyhydramnios, and kidney and urinary tract anomalies are common findings in male fetuses. We present the first case of a severely affected female fetus with stigmata of SGBS and a deletion involving the GPC3 gene.
May 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28469780/the-relationship-between-amniotic-fluid-mirnas-and-congenital-obstructive-nephropathy
#13
Juntao Xie, Yi Zhou, Wenzong Gao, Zuoqing Li, Zhe Xu, Li Zhou
Exosomes are small membrane vesicles with size of 30-100 nm, which were found in bodily fluids including amniotic fluid and saliva. The biological materials in exosomes, such as proteins and RNA, can be used as novel potential biomarkers for diagnostic assays. The purpose of this study was to assess whether exosomal microRNAs (miRNAs) could be used as biomarkers to prenatally diagnose congenital hydronephrosis and to evaluate fetal kidney function. Transmission electron microscopy (TEM), flow cytometry (FACS), and western-blot were applied to identify exosomes in the amniotic fluid from fetuses with congenital hydronephrosis and healthy controls...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28465847/prenatal-diagnosis-of-a-2-5%C3%A2-mb-de-novo-17q24-1q24-2-deletion-encompassing-kpna2-and-psmd12-genes-in-a-fetus-with-craniofacial-dysmorphism-equinovarus-feet-and-syndactyly
#14
Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28437579/mosaic-trisomy-1q-a-recurring-chromosome-anomaly-that-is-a-diagnostic-challenge-and-is-associated-with-a-fryns-like-phenotype
#15
Kathleen M Bone, Judy E Chernos, Renee Perrier, A Micheil Innes, Francois P Bernier, Ross McLeod, Mary Ann Thomas
OBJECTIVE: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose because of tissue-limited mosaicism. This study aimed to further characterize the prenatal and post-natal findings associated with this anomaly, including the first reported chromosomal microarray finding. METHOD: This is a retrospective study of six cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY, diagnosed both prenatally and post-natally. Detailed clinical features and pregnancy outcome were documented...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28431037/gestational-diabetes-alters-functions-in-offspring-s-umbilical-cord-cells-with-implications-for-cardiovascular-health
#16
Ajith Isaac Amrithraj, Anjaneyulu Kodali, Linh Nguyen, Adrian Kee Keong Teo, Cheng Wei Chang, Neerja Karnani, Kai Lyn Ng, Peter D Gluckman, Yap Seng Chong, Walter Stünkel
As non-communicable diseases such as type 2 diabetes mellitus have their roots in prenatal development and conditions such as maternal gestational diabetes (GDM), we aimed to test this hypothesis in primary cells derived from the offspring of GDM mothers compared to control subjects. We have assessed primary umbilical cord derived cells such as human umbilical vein endothelial cells (HUVECs) and Wharton's jelly derived mesenchymal stem cells (WJMSCs) from both, the offspring of GDM and non-GDM mothers. We have compared the primary isolates in cell based assays measuring proliferation, mitochondrial oxygen consumption, and the ability to support blood vessel growth...
April 19, 2017: Endocrinology
https://www.readbyqxmd.com/read/28420901/discrepancy-between-non-invasive-prenatal-genetic-testing-nipt-and-amniotic-chromosomal-test-due-to-placental-mosaicism-a-case-report-and-literature-review
#17
Kei Hayata, Yuji Hiramatsu, Hisashi Masuyama, Eriko Eto, Takashi Mitsui, Shoko Tamada
We experienced a case of advanced maternal age in which a fetus was found to be positive for trisomy 18 at re-examination following indeterminate non-invasive prenatal genetic testing (NIPT), the amniotic fluid chromosomal test revealed a normal karyotype, and confined placental mosaicism (CPM) was observed in an SNP microarray analysis of the placenta. The child was born with no defects or complications. In the present case, the result of the original NIPT at week 15 of pregnancy was indeterminate and the subsequent re-examination result was positive; since the definitive normal diagnosis was not reported until the latter half of week 21, the pregnant patient was subjected to psychological stress for a long period of time...
April 2017: Acta Medica Okayama
https://www.readbyqxmd.com/read/28417514/enlarged-cavum-septi-pellucidi-and-vergae-in-the-fetus-a-cause-for-concern
#18
Yoona K Ho, Michelle Turley, Krishelle L Marc-Aurele, Marilyn C Jones, Elise Housman, Dawn Engelkemier, Lorene E Romine, Paritosh C Khanna, Dolores H Pretorius
OBJECTIVES: To investigate fetal cases identified at our institution to determine whether an enlarged cavum septi pellucidi or cavum vergae is associated with other fetal abnormalities and whether its presence warrants more detailed investigation of the fetus. METHODS: In a retrospective study, 15 high- and low-risk patients undergoing prenatal sonography who had an enlarged cavum septi pellucidi or cavum vergae identified were reviewed. Data were collected for the sonographic study indication, gestation age at diagnosis of a prominent cavum, and associated anomalies...
April 18, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28409863/the-influence-of-snp-based-chromosomal-microarray-and-nipt-on-the-diagnostic-yield-in-10-000-fetuses-with-and-without-fetal-ultrasound-anomalies
#19
Malgorzata I Srebniak, Maarten F C M Knapen, Marike Polak, Marieke Joosten, Karin E M Diderich, Lutgarde C P Govaerts, Marjan Boter, Joan N R Kromosoeto, Daniella Aloysia C M van Hassel, Gido Huijbregts, Wilfred F J van IJcken, Roger Heydanus, Anneke Dijkman, Toon Toolenaar, Femke A T de Vries, Jeroen Knijnenburg, Attie T J I Go, Robert-Jan H Galjaard, Diane Van Opstal
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy...
July 2017: Human Mutation
https://www.readbyqxmd.com/read/28403926/prenatal-microarray-comparative-genomic-hybridization-experience-from-the-two-first-years-of-activity-at-the-lyon-university-hospital
#20
L Pons, M Till, E Alix, C Abel, D Boggio, A Bordes, J Caloone, F C Raskin, N Chatron, M-P Cordier, A Fichez, A Labalme, C Lajeunesse, É Liaras, M Massoud, J Miribel, E Ollagnon, C Schluth-Bolard, A Vichier-Cerf, P Edery, J Attia, C Huissoud, R C Rudigoz, J Massardier, P Gaucherand, D Sanlaville
OBJECTIVES: This study aims to describe how microarray comparative genomic hybridization (aCGH) has shifted to become a prenatal diagnosis tool at the Lyon university-hospital. MATERIALS AND METHODS: This retrospective study included all patients who were referred in the 3 pluridisciplinary centers for prenatal diagnosis of the Lyon university-hospital and who received a prenatal aCGH between June 2013 and June 2015. aCGH was systematically performed in parallel with a karyotype, using the PréCytoNEM array design...
March 2017: Journal of gynecology obstetrics and human reproduction
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