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prenatal microarray

Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, Claude Bandelier, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Winnie Courtens, Anne De Leener, Marjan De Rademaeker, Julie Désir, Anne Destree, Koenraad Devriendt, Annelies Dheedene, Annelies Fieuw, Erik Fransen, Jean-Stéphane Gatot, Philip Holmgren, Mauricette Jamar, Sandra Janssens, Kathelijn Keymolen, Damien Lederer, Björn Menten, Marije Meuwissen, Benoit Parmentier, Bruno Pichon, Sonia Rombout, Yves Sznajer, Ann Van Den Bogaert, Kris Van Den Bogaert, Olivier Vanakker, Joris Vermeesch, Katrien Janssens
OBJECTIVE: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs...
October 18, 2018: Prenatal Diagnosis
S Brun, P Pennamen, A Mattuizzi, F Coatleven, M L Vuillaume, D Lacombe, B Arveiler, J Toutain, C Rooryck
OBJECTIVE: The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using Chromosomal Microarray Analysis (CMA) for fetuses presenting with isolated or associated Intrauterine Growth Restriction (IUGR). METHOD: We retrospectively included all fetuses with IUGR referred for prenatal testing and studied by rapid fluorescence in situ hybridization (FISH), karyotype and CMA. RESULTS: Among the 162 IUGR fetuses (78 associated and 84 isolated IUGR) included, 15 had an abnormal FISH result: 10 associated and five isolated fetal IUGRs...
October 17, 2018: Prenatal Diagnosis
Adel Shalata, Supanun Lauhasurayotin, Zvi Leibovitz, Hongbing Li, Diane Hebert, Santhosh Dhanraj, Yarin Hadid, Mohammed Mahroum, Jacob Bajar, Sandro Egenburg, Ayala Arad, Mordechai Shohat, Sami Haddad, Hassan Bakry, Houtan Moshiri, Stephen S Scherer, Shay Tzur, Yigal Dror
BACKGROUND: Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the genetic cause in the majority of cases is unknown. OBJECTIVE: To identify the mutated gene responsible for Dandy-Walker malformation, kidney disease and bone marrow failure in four patients from two unrelated families...
October 16, 2018: Journal of Medical Genetics
Chunyan Li, Biliang Chen, Jiao Zheng, Lu Cheng, Tingting Song, Fenfen Guo, Hui Xu, Feng Yan, Ying Xu, Yu Li, Jianfang Zhang
OBJECTIVE: To evaluate the diagnostic accuracy of the BACs-on-Beads (BoBs) assay for the rapid diagnosis of common aneuploidies and microdeletion syndromes. METHODS: BACs-on-Beads and chromosomal karyotyping were used for detecting 3647 cases of amniotic fluid samples with indications for prenatal diagnosis, which were collected from January 2015 to June 2017 in Xijing Hospital. Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) provided further validation...
October 16, 2018: Reproductive Sciences
Fionnuala Mone, Elizabeth Quinlan-Jones, Mark D Kilby
Advances in prenatal genomics have enabled the assessment of not only the sub-microscopic structure of chromosomes using chromosomal microarray analysis, but also the detection of "pathogenic variants" to the resolution of a single base pair with the use of next generation sequencing. Research is emerging on the additional prenatal diagnostic yield that exome sequencing offers when structural fetal anomalies are detected on ultrasound examination, in particular the identification of monogenic abnormalities defining prognosis and recurrence of anomalies...
October 6, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Noriko Nakamura, Vikrant Vijay, Varsha G Desai, Deborah K Hansen, Tao Han, Ching-Wei Chang, Yu-Chuan Chen, Wafa Harrouk, Barry McIntyre, Paul M Foster, James C Fuscoe, Amy L Inselman
2-hydroxy-4-methoxybenzophenone (HMB) is an ultraviolet light-absorbing compound that is used in sunscreens, cosmetics and plastics. HMB has been reported to have weak estrogenic activity by in vivo and in vitro studies, making it a chemical with potential reproductive concern. To explore if prenatal and lactational HMB exposure alters the gene expression profile of the developing reproductive organs, we performed microarray analysis using the prostate and testis of postnatal day (PND) 30 male Sprague-Dawley rats offspring exposed to 0, 3000, or 30000 ppm of HMB from gestational day 6 through PND 21...
October 11, 2018: Reproductive Toxicology
Sophie Croizier, Soyoung Park, Julien Maillard, Sebastien G Bouret
Proopiomelanocortin (POMC) neurons are major negative regulators of energy balance. A distinct developmental property of POMC neurons is that they can adopt an orexigenic neuropeptide Y (NPY) phenotype. However, the mechanisms underlying the differentiation of Pomc progenitors remain unknown. Here, we show that the loss of the microRNA (miRNA)-processing enzyme Dicer in POMC neurons causes metabolic defects, an age-dependent decline in the number of Pomc mRNA-expressing cells, and an increased proportion of Pomc progenitors acquiring a NPY phenotype...
October 12, 2018: ELife
K Yang, H Qi, S S Huang, X H Wen, J J Zhu, L R Cai, W Zeng, G D Tang, Y Luo, D Y Kang
Objective: To screen for hotspot gene mutations associated with genetic deafness in Chinese pregnant women, and to perform risk assessment and prenatal diagnosis in high-risk families. Methods: Between November 2012 and October 2017, 26 117 pregnant women were screened by molecular hybridization microarray for 9 hot-spot mutations in 4 hereditary deafness related genes ( GJB 2 c . 35 del G, c . 176_191 del 16 bp, c . 235 del G, c . 299_300 del AT, GJB 3 c . 538 C > T, SLC 26 A 4 c . 2168 A > G, IVS 7-2 A > G, mitochondrial DNA 12 S rRNA m ...
September 7, 2018: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
Amy Inkster, Mary Ann Thomas, Nadine S Gamache, Michael Chan, Pernilla Stenroos, Judy E Chernos, Bob Argiropoulos
The aim of this study was to investigate the origin of the biallelic trisomic amplification pattern of the X chromosome microsatellite marker DXS1187 in an otherwise normal male fetus, identified on routine rapid aneuploidy detection (RAD) testing by quantitative fluorescent-polymerase chain reaction (QF-PCR). Amniocentesis was performed on a 35-year-old female at 15 weeks, 2 days gestation for a positive first trimester screen. QF-PCR, metaphase FISH, and chromosomal microarray were carried out on both maternal and fetal DNA...
October 5, 2018: Cytogenetic and Genome Research
Inusha Panigrahi, Puneet Jain, Siyaram Didel, Sarita Agarwal, Srinivasan Muthuswamy, Ansuman Saha, Vinay Kulkarni
Background: A retrospective analysis using chromosomal microarray in syndromic patients with intellectual disability from genetic clinics of a tertiary healthcare center in India was conducted. Aim: To identify the spectrum of chromosomal abnormalities detected on microarray analysis. Settings and Design: Cases were identified among those with intellectual disability with dysmorphism attending genetic clinics of a tertiary care center. Patients and Methods: All patients attending genetic clinics over a 3-year period were analyzed...
September 2018: Neurology India
Hou-Sung Jung, Stephanie E Vallee, Mary Beth Dinulos, Gregory J Tsongalis, Joel A Lefferts
We present a case of a newborn female with multiple anomalies demonstrating that the causes of imprinting disorders rely not only on the parent-of-origin of the chromosomal aberrations, but also the scope of genes contained in the imprinted region. The newborn female presented with prenatal polyhydramnios, neonatal respiratory distress, distal contractures, abdominal hernia, bell-shaped thorax, and abnormal ribs. The neonate required mechanical ventilation due to apnea, underwent surgery for laryngomalacia, and showed development delay by age 11 months...
September 19, 2018: Journal of Human Genetics
Xiuqing Ji, Qiong Pan, Yan Wang, Yun Wu, Jing Zhou, An Liu, Fengchang Qiao, Dingyuan Ma, Ping Hu, Zhengfeng Xu
Background: The phenotype of duplication of 1q21.1 region is variable, ranging from macrocephaly, autism spectrum disorder, congenital anomalies, to a normal phenotype. Few cases have been reported in the literature regarding prenatal diagnosis of 1q21.1 duplication syndrome. The current study presents prenatal diagnosis of 1q21.1 duplication syndrome in three fetuses with ultrasound anomalies. Case presentation: Three fetuses from three unrelated families were included in the study. The prenatal routine ultrasound examination showed nasal bone loss in Fetus 1 and Fetus 3, as well as duodenal atresia in Fetus 2...
2018: Frontiers in Genetics
Mi-Young Lee, Hye-Sung Won, You Jung Han, Hyun Mee Ryu, Da Eun Lee, Ba-Da Jeong
OBJECTIVES: To evaluate the usefulness of chromosomal microarray analysis (CMA) in fetuses with dextro-transposition of the great arteries (d-TGA). METHODS: Thirty-two fetuses with d-TGA were examined for submicroscopic copy number variations (CNVs) using CMA. RESULTS: Among the 32 d-TGA fetuses, 23 had isolated lesions (71.9%) and nine had other cardiac or extracardiac anomalies (28.1%). CNVs were detected in 16/32 (50%) of the fetuses, including benign CNVs detected in nine fetuses (28...
September 3, 2018: Journal of Maternal-fetal & Neonatal Medicine
Teresa N Sparks, Aaron B Caughey
In January 2017, a group of experts in prenatal genetics attended a workshop at the Society of Maternal-Fetal Medicine meeting to review the evidence behind the costs and cost-effectiveness of prenatal genetic testing. Over the past decade, prenatal genetic testing options have dramatically expanded to include additional options with cell-free DNA (cfDNA) screening, as well as increased diagnostic abilities through chromosomal microarray analysis (CMA), gene panels, whole exome sequencing, and other tests. With these expanding technologies, it is important to consider the options available as well as the cost effectiveness of their use...
July 26, 2018: Seminars in Perinatology
Konstantin Ridnõi, Elvira Kurvinen, Sander Pajusalu, Tiia Reimand, Katrin Õunap
Fetal overgrowth and numerous congenital malformations can be detected in every trimester of pregnancy. New technologies in molecular testing, such as chromosomal microarray analysis and next-generation sequencing, continually demonstrate advantages for definitive diagnosis in fetal life. Simpson-Golabi-Behmel (SGB) syndrome is a rare but well-known overgrowth condition that is rarely diagnosed in the prenatal setting. We report 3 cases of SGB syndrome in 2 consecutive pregnancies. In our series, distinctive prenatal sonographic findings led to molecular diagnosis...
July 2018: Molecular Syndromology
Meifang Lin, Ju Zheng, Ruan Peng, Liu Du, Qiao Zheng, Ting Lei, Hongning Xie
OBJECTIVES: To explore chromosomal variations, including copy number variations (CNVs), in fetuses with conotruncal heart defect (CTD). METHODS: During a 5-year period, a total of 129 fetuses with ascertained CTDs were investigated for chromosomal abnormalities using quantitative fluorescence PCR (QF-PCR) and chromosomal microarray analysis (CMA). Fetuses were divided into two subgroups: benign group (with normal QF-PCR results and benign CNVs) and nonbenign group [with aneuploidies, nonbenign CNVs [pathogenic CNVs and CNVs of unknown significance (VOUS)]...
September 20, 2018: Journal of Maternal-fetal & Neonatal Medicine
Lin Li, Linhuan Huang, Xuan Huang, Shaobin Lin, Zhiming He, Qun Fang
Pallister-Killian syndrome (PKS) is often incidentally diagnosed prenatally due to ultrasound abnormalities or advanced maternal age. Severely shortened limbs could be the most outstanding abnormal observation in a fetus with PKS. PKS can be detected with the highest mosaic ratio by chromosomal microarray analysis (CMA) on uncultured amniocytes prenatally.
August 2018: Clinical Case Reports
Han Jin, Cui Yingqiu, Liu Zequn, Huang Yanjun, Zhang Yunyan, Zhao Shufan, Chen Yiyang, Li Ru, Zhen Li, Zhang Yongling, Wang Hongtao, Liao Can
The aim of this study was to investigate the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of orofacial clefts.A total of 143 fetuses with oral clefts were detected by ultrasound during prenatal exam between 2012 and 2017 in our center. We categorized the cases into 4 groups: isolated cleft lip (CL) (CL only), isolated cleft palate (CP only), isolated cleft lip and palate (CLP) (CLP only), and syndromic CLP (combined with other malformations). The CMA was performed in all cases, while 139 fetuses were referred for G-banded chromosome analysis...
August 2018: Medicine (Baltimore)
Shiyu Luo, Dahua Meng, Qifei Li, Xuehua Hu, Yuhua Chen, Chun He, Bobo Xie, Shangyang She, Yingfeng Li, Chunyun Fu
BACKGROUND: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotyping and chromosomal microarray (CMA) testing, but the genotype-phenotype relationship has not yet been fully established. OBJECTIVE: To determine the type and frequency of chromosomal abnormalities in fetuses with CHD and to analyze pregnancy outcomes of fetuses with heart abnormalities caused by different genetic factors...
August 20, 2018: Arquivos Brasileiros de Cardiologia
Magdalena Pasińska, Ewelina Łazarczyk, Katarzyna Jułga, Magdalena Bartnik-Głaska, Beata Nowakowska, Olga Haus
BACKGROUND: Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when the translocation results in gene interruption. However, these people are at risk of production of unbalanced gametes during meiosis, as a result of various forms of chromosome segregation. This may cause infertility, non-implantation of the embryo, shorter embryo or foetus survival, as well as congenital defects and developmental disorders in children after birth...
August 20, 2018: BMC Medical Genomics
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