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Fetal microarray

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https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#1
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/28505005/gastric-cancer-with-primitive-enterocyte-phenotype-an-aggressive-subgroup-of-intestinal-type-adenocarcinoma
#2
Sho Yamazawa, Tetsuo Ushiku, Aya Shinozaki-Ushiku, Akimasa Hayashi, Akiko Iwasaki, Hiroyuki Abe, Amane Tagashira, Hiroharu Yamashita, Yasuyuki Seto, Hiroyuki Aburatani, Masashi Fukayama
A primitive cell-like gene expression signature is associated with aggressive phenotypes of various cancers. We assessed the expression of phenotypic markers characterizing primitive cells and its correlation with clinicopathologic and molecular characteristics in gastric cancer. Immunohistochemical analysis of a panel of primitive phenotypic markers, including embryonic stem cell markers (OCT4, NANOG, SALL4, CLDN6, and LIN28) and known oncofetal proteins (AFP and GPC3), was performed using tissue microarray on 386 gastric cancers...
May 12, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28469780/the-relationship-between-amniotic-fluid-mirnas-and-congenital-obstructive-nephropathy
#3
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
#4
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/28454701/expression-profiling-of-maternal-plasma-and-placenta-micrornas-in-preeclamptic-pregnancies-by-microarray-technology
#5
Tuba Gunel, Mohammad Kazem Hosseini, Ece Gumusoglu, Halil Ibrahim Kisakesen, Ali Benian, Kilic Aydinli
Preeclampsia (PE) is one of the leading causes of maternal and fetal morbidity and mortality, occurring usually in the second half of pregnancy and affecting approximately 5-8% of pregnancies in the world. miRNAs play critical role in the regulation of placental development processes. We aimed to determine specific novel miRNAs for early diagnosis of preeclampsia which is one of the most dangerous pregnancy diseases. In this study 72 samples, maternal age 22 ≤ and ≤36, have been analyzed; maternal plasma and placental miRNAs were isolated from 18 severe preeclampsia (sPE) patients and 18 controls, respectively...
April 2017: Placenta
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
#6
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 due to tissue-limited mosaicism. This study aimed to further characterize the prenatal and postnatal findings associated with this anomaly, including the first reported chromosomal microarray finding. METHOD: This is a retrospective study of 6 cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY diagnosed both pre- and postnatally. Detailed clinical features and pregnancy outcome were documented...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28436429/human-fetal-heart-specific-coexpression-network-involves-congenital-heart-disease-defect-candidate-genes
#7
Bo Wang, Guoling You, Qihua Fu
Heart development is a complex process requiring dynamic transcriptional regulation. Disturbance of this process will lead to severe developmental defects such as congenital heart disease/defect (CHD). CHD is a group of complex disorder with high genetic heterogeneity, common pathways associated with CHD remains largely unknown. In the manuscript, we focused on the tissue specific genes in human fetal heart samples to explore such pathways. We used the RNA microarray dataset of human fetal tissues from ENCODE project to identify genes with heart tissue specific expression...
April 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28417514/enlarged-cavum-septi-pellucidi-and-vergae-in-the-fetus-a-cause-for-concern
#8
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
#9
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 non-invasive 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...
April 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28397227/-prenatal-diagnosis-and-follow-up-of-a-case-with-lowe-syndrome-caused-by-interstitial-deletion-of-xq25-26
#10
Xiangyu Zhu, Jie Li, Tong Ru, Ruifang Zhu, Chenyan Dai, Wanjun Wang, Yali Hu
OBJECTIVE: To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing. METHODS: Detailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal microarray analysis (CMA) was conducted on amniotic fluid sample from the fetus and peripheral blood sample from the mother...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28387813/whole-exome-sequencing-for-prenatal-diagnosis-of-fetuses-with-congenital-anomalies-of-the-kidney-and-urinary-tract
#11
Ting-Ying Lei, Fang Fu, Ru Li, Dan Wang, Rong-Yue Wang, Xiang-Yi Jing, Qiong Deng, Zhou-Zhou Li, Ze-Qun Liu, Xin Yang, Dong-Zhi Li, Can Liao
Background.: In the absence of cytogenetic abnormality, fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with/without other structural anomalies show a higher likelihood of monogenic causes; however, defining the underlying pathology can be challenging. Here, we investigate the value of whole-exome sequencing (WES) in fetuses with CAKUT but normal findings upon karyotyping and chromosome microarray analysis. Methods.: WES was performed on DNA from the cord blood of 30 fetuses with unexplained CAKUT with/without other structural anomalies...
April 6, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28370151/outcome-of-isolated-enlarged-cisterna-magna-identified-in-utero-experience-at-a-single-medical-center-in-mainland-china
#12
Zequn Liu, Jin Han, Fang Fu, Juan Liu, Ru Li, Xin Yang, Min Pan, Li Zhen, Dongzhi Li, Can Liao
OBJECTIVE: The objective of this study is to explore the effects of prenatal isolated enlarged cisterna magna (IECM) on postnatal development. METHODS: We followed up 123 fetuses with an enlarged cisterna magna (ECM), who were divided into IECM (group 1) and non-IECM (ECM plus other anomalies, group 2) groups, and compared 60 normal infants with normal fetal ultrasound. We assessed infants postnatally using the Gesell Developmental Schedules. Fetal magnetic resonance imaging, karyotyping, and chromosomal microarray analysis test were offered...
March 30, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28358362/deletion-of-stk40-impairs-definitive-erythropoiesis-in-the-mouse-fetal-liver
#13
Lina Wang, Hongyao Yu, Hui Cheng, Ke He, Zhuoqing Fang, Laixiang Ge, Tao Cheng, Ying Jin
The serine threonine kinase Stk40 has been shown to involve in mouse embryonic stem cell differentiation, pulmonary maturation and adipocyte differentiation. Here we report that targeted deletion of Stk40 leads to fetal liver hypoplasia and anemia in the mouse embryo. The reduction of erythrocytes in the fetal liver is accompanied by increased apoptosis and compromised erythroid maturation. Stk40(-/-) fetal liver cells have significantly reduced colony-forming units (CFUs) capable of erythroid differentiation, including burst forming unit-erythroid, CFU-erythroid (CFU-E), and CFU-granulocyte, erythrocyte, megakaryocyte and macrophage, but not CFU-granulocyte/macrophages...
March 30, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28340467/the-clinical-use-of-chromosomal-microarray-analysis-in-detection-of-fetal-chromosomal-rearrangements-a-study-from-china-mainland
#14
Yi Wu, Yanlin Wang, Jiong Tao, Xu Han, Xinrong Zhao, Chunmin Liu, Li Gao, Weiwei Cheng
OBJECTIVES: This study aimed to evaluate the detection rate of chromosomal microarray analysis (CMA) in prenatal fetuses compared with conventional karyotype and to assess the additional diagnostic yields of CMA in groups of different indications. STUDY DESIGN: A total of 217 fetuses were divided into seven groups according to different indications. All cases were tested by both CMA and karyotype. The detection rates of CMA and karyotype were evaluated. The increased value of CMA in each group was also calculated...
May 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28331934/microarray-analysis-of-differential-gene-expression-profile-between-human-fetal-and-adult-heart
#15
Zhimin Geng, Jue Wang, Lulu Pan, Ming Li, Jitai Zhang, Xueli Cai, Maoping Chu
Although many changes have been discovered during heart maturation, the genetic mechanisms involved in the changes between immature and mature myocardium have only been partially elucidated. Here, gene expression profile changed between the human fetal and adult heart was characterized. A human microarray was applied to define the gene expression signatures of the fetal (13-17 weeks of gestation, n = 4) and adult hearts (30-40 years old, n = 4). Gene ontology analyses, pathway analyses, gene set enrichment analyses, and signal transduction network were performed to predict the function of the differentially expressed genes...
March 22, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28293297/incidence-of-the-22q11-2-deletion-in-a-large-cohort-of-miscarriage-samples
#16
Melissa K Maisenbacher, Katrina Merrion, Barbara Pettersen, Michael Young, Kiyoung Paik, Sushma Iyengar, Stephanie Kareht, Styrmir Sigurjonsson, Zachary P Demko, Kimberly A Martin
BACKGROUND: The 22q11.2 deletion syndrome is the most common microdeletion syndrome in livebirths, but data regarding its incidence in other populations is limited and also include ascertainment bias. This study was designed to determine the incidence of the 22q11.2 deletion in miscarriage samples sent for clinical molecular cytogenetic testing. RESULTS: Twenty-six thousand one hundred one fresh product of conception (POC) samples were sent to a CLIA- certified, CAP-accredited laboratory from April 2010--May 2016 for molecular cytogenetic miscarriage testing using a single-nucleotide polymorphism (SNP)-based microarray platform...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28270404/pbx1-haploinsufficiency-leads-to-syndromic-congenital-anomalies-of-the-kidney-and-urinary-tract-cakut-in-humans
#17
Pauline Le Tanno, Julie Breton, Marie Bidart, Véronique Satre, Radu Harbuz, Pierre F Ray, Caroline Bosson, Klaus Dieterich, Sylvie Jaillard, Sylvie Odent, Gemma Poke, Rachel Beddow, Maria Christina Digilio, Antonio Novelli, Laura Bernardini, Maria Antonietta Pisanti, Luisa Mackenroth, Karl Hackmann, Ida Vogel, Rikke Christensen, Siv Fokstuen, Frédérique Béna, Florence Amblard, Francoise Devillard, Gaelle Vieville, Alexia Apostolou, Pierre-Simon Jouk, Fitsum Guebre-Egziabher, Hervé Sartelet, Charles Coutton
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a significant healthcare burden since it is the primary cause of chronic kidney in children. CNVs represent a recurrent molecular cause of CAKUT but the culprit gene remains often elusive. Our study aimed to define the gene responsible for CAKUT in patients with an 1q23.3q24.1 microdeletion. METHODS: We describe eight patients presenting with CAKUT carrying an 1q23.3q24.1 microdeletion as identified by chromosomal microarray analysis (CMA)...
March 7, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28259892/chromosomal-microarray-and-fetal-growth-restriction
#18
Federico Prefumo, Anna Fichera, Nicola Fratelli, Claudia Izzi
No abstract text is available yet for this article.
March 4, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28253570/-clinical-analysis-of-21-cases-with-short-fetal-femur-in-the-third-trimester
#19
Y Ren, Y Q You, H H Zhou, L X Wang, H Xu, R B Li, S J Wang, X X Xie, Y G Meng, Y P Lu
Objective: To analyze the clinical features and to explore the etiology of short fetal femur during the third trimester. Methods: From January 2010 to June 2016, 21 singleton pregnancies with short fetal femur detected by ultrasonography during the third trimester were referred to the Chinese PLA General Hospital. Clinical data were collected, karyotype or single nucleotide polymorphism microarray was carried out to detect chromosomal abnormalities, and FGFR3 c.1138G>A mutation detection was carried out to detect achondroplasia (ACH) via invasive procedure, respectively...
February 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28247551/characterization-of-chromosomal-abnormalities-in-pregnancy-losses-reveals-critical-genes-and-loci-for-human-early-development
#20
Yiyun Chen, Justin Bartanus, Desheng Liang, Hongmin Zhu, Amy M Breman, Janice L Smith, Hua Wang, Zhilin Ren, Ankita Patel, Pawel Stankiewicz, David S Cram, Sau Wai Cheung, Lingqian Wu, Fuli Yu
Detailed characterization of chromosomal abnormalities, a common cause for congenital abnormalities and pregnancy loss, is critical for elucidating genes for human fetal development. Here, 2,186 product-of-conception samples were tested for copy-number variations (CNVs) at two clinical diagnostic centers using whole-genome sequencing and high-resolution chromosomal microarray analysis. We developed a new gene discovery approach to predict potential developmental genes and identified 275 candidate genes from CNVs detected from both datasets...
June 2017: Human Mutation
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