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Fetal microarray

Sakiko Fujii, Katsumi Fujimoto, Noriko Goto, Yoshimitsu Abiko, Asayo Imaoka, Jinchang Shao, Kazuko Kitayama, Masami Kanawa, Agung Sosiawan, Ketut Suardita, Fusanori Nishimura, Yukio Kato
Dental pulp cells (DPCs) are promising candidates for use as transplantable cells in regenerative medicine. However, ex vivo expansion of these cells typically requires culture media containing fetal bovine serum, which may cause infection and immunological reaction following transplantation. In addition, the proliferation and differentiation of DPCs markedly depend upon serum batches. Therefore, the present study examined whether DPCs could be expanded under serum-free conditions. DPCs obtained from four donors were identified to proliferate actively in the serum-free medium, STK2, when compared with those cells in control medium (Dulbecco's modified Eagle's medium containing 10% serum)...
April 2018: Biomedical Reports
Fredrik Dahl, Olle Ericsson, Olof Karlberg, Filip Karlsson, Mathias Howell, Fredrik Persson, Fredrik Roos, Johan Stenberg, Tarja Ahola, Ida Alftrén, Björn Andersson, Emelie Barkenäs, Birgit Brandner, Jenny Dahlberg, Sara Elfman, Magnus Eriksson, Per-Ola Forsgren, Niels Francois, Anna Gousseva, Faizan Hakamali, Åsa Janfalk-Carlsson, Henrik Johansson, Johanna Lundgren, Atefeh Mohsenchian, Linus Olausson, Simon Olofsson, Atif Qureshi, Björn Skarpås, Anna Sävneby, Eva Åström, Ove Öhman, Magnus Westgren, Helena Kopp-Kallner, Aino Fianu-Jonasson, Argyro Syngelaki, Kypros Nicolaides
Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, however for most healthcare programs, cost and workflow complexity is limiting adoption of the test. We report a novel cost effective method, the Vanadis NIPT assay, designed for high precision digitally-enabled measurement of chromosomal aneuploidies in maternal plasma. Reducing NIPT assay complexity is achieved by using novel molecular probe technology that specifically label target chromosomes combined with a new readout format using a nanofilter to enrich single molecules for imaging and counting without DNA amplification, microarrays or sequencing...
March 14, 2018: Scientific Reports
Cheryl Q E Lee, Margherita Turco, Lucy Gardner, Benjamin Simons, Myriam Hemberger, Ashley Moffett
During pregnancy the trophoblast cells of the placenta are the only fetal cells in direct contact with maternal blood and decidua. Their functions include transport of nutrients and oxygen, secretion of pregnancy hormones, remodelling the uterine arteries, and communicating with maternal cells. Despite the importance of trophoblast cells in placental development and successful pregnancy, little is known about the identity, location and differentiation of human trophoblast progenitors. We identify a proliferative trophoblast niche at the base of the cytotrophoblast cell columns in first trimester placentas that is characterised by integrin α2 (ITGA2) expression...
March 14, 2018: Development
Wasco Wruck, James Adjaye
Induced pluripotent stem cells (iPSCs) and human embryonic stem cells (hESCs) differentiated into hepatocyte-like cells (HLCs) provide a defined and renewable source of cells for drug screening, toxicology and regenerative medicine. We previously reprogrammed human fetal foreskin fibroblast cells (HFF1) into iPSCs employing an episomal plasmid-based integration-free approach, this iPSC-line and the hESC lines H1 and H9 were used to model hepatogenesis in vitro. Biochemical characterisation confirmed glycogen storage, ICG uptake and release, urea and bile acid production, as well as CYP3A4 activity...
March 13, 2018: Scientific Data
Hong Qi, Zhao-Ling Xuan, Yang Du, Li-Rong Cai, Han Zhang, Xiao-Hui Wen, Xiang-Dong Kong, Kai Yang, Yang Mi, Xin-Xin Fu, Shan-Bo Cao, Juan Wang, Chong-Jian Chen, Jun-Bin Liang
OBJECTIVE: Chromosome aberrations are generally considered as one of the most substantial causative factors contributing to spontaneous miscarriages. Cytogenetic analyses like G-banded karyotype and chromosomal microarray analyses are often performed to further investigate the chromosome status of a miscarried fetus. STUDY DESIGN: Here, we describe a novel method, AnnoCNV, to detect DNA copy number variations (CNVs) using low coverage whole genome sequencing (WGS)...
March 8, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Amihood Singer, Idit Maya, Arie Koifman, Nadra Nasser Samra, Hagit N Baris, Tzipora Falik-Zaccai, Shay Ben Shachar, Lena Sagi-Dain
INTRODUCTION: Fetal echogenic bowel is a frequent sonographic finding, demonstrated in about 1% of pregnancies. The advised evaluation of fetal echogenic bowel includes maternal serology, genetic testing for cystic fibrosis, detailed sonographic anatomic survey, and invasive prenatal testing for fetal chromosomal aberrations. The objective of our study was to evaluate the risk for clinically significant chromosomal microarray analysis (CMA) findings in pregnancies with isolated echogenic bowel...
March 6, 2018: Early Human Development
Nischay Mishra, Adrian Caciula, Adam Price, Riddhi Thakkar, James Ng, Lokendra V Chauhan, Komal Jain, Xiaoyu Che, Diego A Espinosa, Magelda Montoya Cruz, Angel Balmaseda, Eric H Sullivan, Jigar J Patel, Richard G Jarman, Jennifer L Rakeman, Christina T Egan, Chantal B E M Reusken, Marion P G Koopmans, Eva Harris, Rafal Tokarz, Thomas Briese, W Ian Lipkin
Zika virus (ZIKV) is implicated in fetal stillbirth, microcephaly, intracranial calcifications, and ocular anomalies following vertical transmission from infected mothers. In adults, infection may trigger autoimmune inflammatory polyneuropathy. Transmission most commonly follows the bite of infected Aedes mosquitoes but may also occur through sexual intercourse or receipt of blood products. Definitive diagnosis through detection of viral RNA is possible in serum or plasma within 10 days of disease onset, in whole blood within 3 weeks of onset, and in semen for up to 3 months...
March 6, 2018: MBio
Ran Svirsky, Dana Brabbing-Goldstein, Uri Rozovski, Livia Kapusta, Adi Reches, Yuval Yaron
INTRODUCTION: Our objective was an evaluation of the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect. MATERIAL AND METHODS: The study included 40 pregnant women whose fetuses were diagnosed with isolated muscular ventricular septal defect (mVSD). Of these, 30 patients underwent amniocentesis and 10 declined. All samples were tested by chromosomal microarray analysis (CMA)...
March 6, 2018: Journal of Maternal-fetal & Neonatal Medicine
Katherine Leavey, Samantha L Wilson, Shannon A Bainbridge, Wendy P Robinson, Brian J Cox
Background: Preeclampsia (PE) is a heterogeneous, hypertensive disorder of pregnancy, with no robust biomarkers or effective treatments. We hypothesized that this heterogeneity is due to the existence of multiple subtypes of PE and, in support of this hypothesis, we recently identified five clusters of placentas within a large gene expression microarray dataset ( N  = 330), of which four (clusters 1, 2, 3, and 5) contained a substantial number of PE samples. However, while transcriptional analysis of placentas can subtype patients, we propose that the addition of epigenetic information could discern gene regulatory mechanisms behind the distinct PE pathologies, as well as identify clinically useful potential biomarkers...
2018: Clinical Epigenetics
Ritu Mishra, Houda Benlhabib, Wei Guo, Connie B Lerma Cervantes, Carole R Mendelson
The major surfactant protein, SP-A (product of SFTPA gene), serves as a marker of type II pneumocyte differentiation and surfactant synthesis. SFTPA expression in cultured human fetal lung (HFL) epithelial cells is upregulated by hormones that increase cAMP and activate TTF-1/NKX2.1 and NF-κB. To further define mechanisms for type II cell differentiation and induction of SP-A, we investigated roles of miRNAs. Using microarray to identify differentially expressed miRNAs in HFL epithelial cells during type II cell differentiation in culture, we observed that members of the miR-199a/-214 cluster were significantly downregulated during differentiation...
March 5, 2018: Molecular and Cellular Biology
Xiao Huang, Pascale Anderle, Lu Hostettler, Marc U Baumann, Daniel V Surbek, Edgar C Ontsouka, Christiane Albrecht
BACKGROUND: Gestational disorders such as intrauterine growth restriction (IUGR) and pre-eclampsia (PE) are main causes of poor perinatal outcomes worldwide. Both diseases are related with impaired materno-fetal nutrient transfer, but the crucial transport mechanisms underlying IUGR and PE are not fully elucidated. In this study, we aimed to identify membrane transporters highly associated with transplacental nutrient deficiencies in IUGR/PE. RESULTS: In silico analyses on the identification of differentially expressed nutrient transporters were conducted using seven eligible microarray datasets (from Gene Expression Omnibus), encompassing control and IUGR/PE placental samples...
March 2, 2018: BMC Genomics
Christine M Armour, Shelley Danielle Dougan, Jo-Ann Brock, Radha Chari, Bernie N Chodirker, Isabelle DeBie, Jane A Evans, William T Gibson, Elena Kolomietz, Tanya N Nelson, Frédérique Tihy, Mary Ann Thomas, Dimitri J Stavropoulos
BACKGROUND: The aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use of chromosomal microarray analysis (CMA) for prenatal diagnosis. This guideline replaces the 2011 Society of Obstetricians and Gynaecologists of Canada (SOGC)-Canadian College of Medical Geneticists (CCMG) Joint Technical Update. METHODS: A multidisciplinary group consisting of medical geneticists, genetic counsellors, maternal fetal medicine specialists and clinical laboratory geneticists was assembled to review existing literature and guidelines for use of CMA in prenatal care and to make recommendations relevant to the Canadian context...
March 1, 2018: Journal of Medical Genetics
Maximilian Schmid, Karen White, Renee Stokowski, Danielle Miller, Patrick E Bogard, Venu Valmeekam, Eric Wang
OBJECTIVES: Various methods of fetal fraction measurement have been employed in conjunction with different approaches to cfDNA testing for fetal aneuploidy. In this study we evaluate the accuracy and reproducibility of fetal fraction measurement using polymorphic assays that are incorporated into test design as part the Harmony Prenatal Test® and confirm that the single nucleotide polymorphisms (SNPs) selected for and used in these assays can be applied broadly to all patient populations...
February 26, 2018: Ultrasound in Obstetrics & Gynecology
Antoni Borrell
Prenatal diagnosis of birth defects initially targeted Down syndrome and neural tube defects. Screening for fetal structural anomalies has expanded to screen any relevant malformation by means of a universal ultrasound scan. Although it is now apparent that clinically relevant genetic anomalies have a similar 3% birth prevalence, prenatal diagnosis programs still focus on Down syndrome. A new comprehensive paradigm is suggested, that provides information on all three groups of genetic disorders, chromosomal, submicroscopic and single-gene, causing intellectual and neurodevelopmental disability...
February 26, 2018: Ultrasound in Obstetrics & Gynecology
Hee Young Cho, Yeonkyung Cho, Yun-Jeong Shin, Jieun Park, Sunghan Shim, Yongwook Jung, Sungshin Shim, Donghyun Cha
The prediction and monitoring of fetal growth restriction (FGR) fetuses has become with the use of ultrasound. However, these tools lack the fundamental evidence for the growth of fetus with FGR excluding pathogenic factors.Amniotic fluid samples were obtained from pregnant women for fetal karyotyping and genetic diagnosis at 16 to 19 weeks of gestation. For this study, 15 FGR and 9 control samples were selected, and cell-free fetal RNA was isolated from each supernatant of the amniotic fluid for microarray analysis...
January 2018: Medicine (Baltimore)
Timothy Mitchell, James W MacDonald, Sengkeo Srinouanpranchanh, Theodor K Bammler, Sean Merillat, Erica Boldenow, Michelle Coleman, Kathy Agnew, Audrey Baldessari, Jennifer E Stencel-Baerenwald, Jennifer Tisoncik-Go, Richard R Green, Michael J Gale, Lakshmi Rajagopal, Kristina M Adams Waldorf
BACKGROUND: Most early preterm births are associated with intraamniotic infection and inflammation, which can lead to systemic inflammation in the fetus. The fetal inflammatory response syndrome describes elevations in the fetal interleukin-6 level, which is a marker for inflammation and fetal organ injury. An understanding of the effects of inflammation on fetal cardiac development may lead to insight into the fetal origins of adult cardiovascular disease. OBJECTIVE: The purpose of this study was to determine whether the fetal inflammatory response syndrome is associated with disruptions in gene networks that program fetal cardiac development...
February 21, 2018: American Journal of Obstetrics and Gynecology
Sagi-Dain Lena, Singer Amihood, Yarin Hadid, Sharony Reuven, Chana Vinkler, Bar-Shira Anat, Reeval Segel, Ben Shachar Shay, Maya Idit
OBJECTIVE: To examine the frequency of abnormal Chromosomal Microarray (CMA) analyses among fetuses with isolated nonvisualization of fetal gallbladder. METHODS: Data from CMA analyses performed due to isolated nonvisualization of fetal gallbladder between January 2013 and September 2016 were retrospectively acquired from a computerized database of the Israeli Ministry of Health. The results were compared to the rate for clinically significant CMA findings in general population, based on a large cohort of 5541 pregnancies undergoing CMA due to maternal request, and a systematic review of 9272 cases with normal ultrasound...
February 18, 2018: Journal of Maternal-fetal & Neonatal Medicine
Masoud Lotfan, Syed Azmal Ali, Munnalal Yadav, Suman Chuadhary, Manoj Kumar Jena, Sudarshan Kumar, Ashok Kumar Mohanty
The crosstalk between fetus and mother starts with the onset of placental attachment to the uterus. The cotyledons and caruncles are the two anatomically distinct structures that play a crucial role in this physiological communication. Using Agilent Gene Chip Genome microarray, we measured the expression profile of pregnancy cotyledons in comparison to caruncular reminiscence of the uteri in non-pregnant buffalo (Bubalus bubalis) for the detection of the early post-pregnancy rapid changes in cellular expression of mRNA transcripts...
February 14, 2018: Gene
Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number variations that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae...
February 2018: Fertility and Sterility
Lisa Hui, Mary Norton
Any screening approach, including with cell-free DNA, will have an inferior detection rate compared with 100% diagnostic testing with chromosomal microarrays. Cell-free DNA-based screening, however, should not be seen as a threat to informed choice or maximising the benefits of diagnostic testing. Screening methods have become so much better that more women are now comfortable relying on such screening and do not need the certainty of a diagnostic test. This has not lead to a decline in detection of fetal chromosome abnormalities - in fact, we are now seeing historically high yields from prenatal screening...
February 14, 2018: Prenatal Diagnosis
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