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Prenatal microarrays

Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire E Redin, Ryan L Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F Crandall, Pamela Gerrol, Mark A Hayden, Naveed Hussain, Bibi Kanengisser-Pines, Sibel Kantarci, Brynn Levy, Michael J Macera, Fabiola Quintero-Rivera, Erica Spiegel, Blair Stevens, Janet E Ulm, Dorothy Warburton, Louise E Wilkins-Haug, Naomi Yachelevich, James F Gusella, Michael E Talkowski, Cynthia C Morton
In this exciting era of "next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide precise delineation of balanced chromosomal rearrangements at the nucleotide level. Given the increased risk of congenital abnormalities in newborns with de novo balanced chromosomal rearrangements, comprehensive interpretation of breakpoints could substantially improve prediction of phenotypic outcomes and support perinatal medical care...
October 5, 2016: American Journal of Human Genetics
Margareta D Pisarska, Marzieh Akhlaghpour, Bora Lee, Gillian M Barlow, Ning Xu, Erica T Wang, Aaron J Mackey, Charles R Farber, Stephen S Rich, Jerome I Rotter, Yii-der I Chen, Mark O Goodarzi, Seth Guller, John Williams
BACKGROUND: Multiple testing to understand global changes in gene expression based on genetic and epigenetic modifications is evolving. Chorionic villi, obtained for prenatal testing, is limited, but can be used to understand ongoing human pregnancies. However, optimal storage, processing and utilization of CVS for multiple platform testing has not been established. RESULTS: Leftover CVS samples were flash-frozen or preserved in RNAlater. Modifications to standard isolation kits were performed to isolate quality DNA and RNA from samples as small as 2-5 mg...
October 8, 2016: Prenatal Diagnosis
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
Dale Wright, Louise Carey, Siobhan Battersby, Thuy Nguyen, Melanie Clarke, Benjamin Nash, Elee Gulesserian, Jill Cross, Artur Darmanian
AIM: Validation of a chromosomal microarray for improved prenatal diagnosis for chromosomal abnormalities among high-risk pregnancies. METHODS: A cohort of 213 pregnancies was investigated by chromosomal microarray and the results were compared with quantitative fluorescent polymerase chain reaction (QF-PCR), karyotype, and 850K single-nucleotide polymorphism microarray results. The detection limit of mosaicism was determined by assaying different trisomy mosaic constructs down to ∼12%...
September 30, 2016: Genetic Testing and Molecular Biomarkers
Aline Rideau Batista Novais, Hoa Pham, Yohan Van de Looij, Miguel Bernal, Jerome Mairesse, Elodie Zana-Taieb, Marina Colella, Pierre-Henri Jarreau, Julien Pansiot, Florent Dumont, Stéphane Sizonenko, Pierre Gressens, Christiane Charriaut-Marlangue, Mickael Tanter, Charlie Demene, Daniel Vaiman, Olivier Baud
Fetal growth restriction (FGR) is a major complication of human pregnancy, frequently resulting from placental vascular diseases and prenatal malnutrition, and is associated with adverse neurocognitive outcomes throughout life. However, the mechanisms linking poor fetal growth and neurocognitive impairment are unclear. Here, we aimed to correlate changes in gene expression induced by FGR in rats and abnormal cerebral white matter maturation, brain microstructure, and cortical connectivity in vivo. We investigated a model of FGR induced by low-protein-diet malnutrition between embryonic day 0 and birth using an interdisciplinary approach combining advanced brain imaging, in vivo connectivity, microarray analysis of sorted oligodendroglial and microglial cells and histology...
December 2016: Glia
N Alayed, N Okun, D Chitayat, E Kolomietz
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
Radoslava Vazharova, Svetlana Vragaleva, Violeta Dimitrova, Samuil Ivanov, Lubomir Balabanski, Maxim Malinov, Draga Toncheva
Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician. The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease...
2016: Case Reports in Obstetrics and Gynecology
Yinon Gilboa, Sharon Perlman, Naomi Pode-Shakked, Ben Pode-Shakked, Alon Shrim, Einat Azaria-Lahav, Benjamin Dekel, Hagith Yonath, Michal Berkenstadt, Reuven Achiron
OBJECTIVE: The linkage between 17q12 microdeletions, renal anomalies and higher risk for neuro-developmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized hyperechogenic fetal kidneys leading to the diagnosis of 17q12 deletion syndrome and autistic spectrum disorder. METHODS: Over a period of nine years in a single referral center, seven fetuses were diagnosed with hyperechogenic renal parenchyma and followed prospectively...
September 16, 2016: Prenatal Diagnosis
Malgorzata I Srebniak, Merel C de Wit, Karin E M Diderich, Lutgarde C P Govaerts, Marieke Joosten, Maarten F C M Knapen, Marnix J Bos, Gerda A G Looye-Bruinsma, Mieke Koningen, Attie T J I Go, Robert Jan H Galjaard, Diane Van Opstal
BACKGROUND: Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray) could be detected by NIPT as well. METHOD: 362 fetuses were referred for cytogenetic testing due to an enlarged NT (≥3.5 mm). Chromosome aberrations were investigated using QF-PCR, karyotyping and whole genome SNP array...
2016: Molecular Cytogenetics
Rebecca C Ahrens-Nicklas, Shama Khan, Jennifer Garbarini, Stacy Woyciechowski, Lisa D'Alessandro, Elaine H Zackai, Matthew A Deardorff, Elizabeth Goldmuntz
Congenital heart defects (CHDs) are heterogeneous and present with a spectrum of severity, with roughly 25% of patients requiring intervention before age 1. The etiology of disease is unknown in many individuals; however, there is a rapidly expanding understanding of genetic risk factors that may contribute to pathogenesis. Through this work, we sought to evaluate the diagnostic yield of a clinical genetics evaluation and associated genetic testing among infants with critical CHDs. Furthermore, we aimed to both determine the utility of microarray and establish a strong baseline that can be used in future studies of the impact of exome sequencing in this population...
September 8, 2016: American Journal of Medical Genetics. Part A
Christina Kehrer, Alexander Hoischen, Ralf Menkhaus, Eva Schwab, Andreas Müller, Sarah Kim, Martina Kreiß, Valerie Weitensteiner, Alina Hilger, Christoph Berg, Anne Geipel, Heiko Reutter, Ulrich Gembruch
OBJECTIVE: Simpson-Golabi-Behmel (SGBS) syndrome type 1 and type 2 represent rare X-linked prenatal overgrowth disorders. The aim of our study is to describe the prenatal sonographic features as well as the genetic work-up. METHOD: Retrospective analysis of four cases with a pre- or postnatal diagnosis of SGBS in a single tertiary referral center within a period of 4 years. RESULTS: In the study period, four male fetuses with SGBS were detected...
October 2016: Prenatal Diagnosis
Manuela Magarin, Herbert Schulz, Ludwig Thierfelder, Jörg-Detlef Drenckhahn
The postnatal mammalian heart is considered a terminally differentiated organ unable to efficiently regenerate after injury. In contrast, we have recently shown a remarkable regenerative capacity of the prenatal heart using myocardial tissue mosaicism for mitochondrial dysfunction in mice. This model is based on inactivation of the X-linked gene encoding holocytochrome c synthase (Hccs) specifically in the developing heart. Loss of HCCS activity results in respiratory chain dysfunction, disturbed cardiomyocyte differentiation and reduced cell cycle activity...
September 2016: Genomics Data
Francesco D'Antonio, Giorgio Pagani, Alessandra Familiari, Asma Khalil, Tally-Lerman Sagies, Gustavo Malinger, Zvi Leibovitz, Catherine Garel, Marie Laure Moutard, Gianluigi Pilu, Amar Bhide, Ganesh Acharya, Martina Leombroni, Lamberto Manzoli, Aris Papageorghiou, Federico Prefumo
CONTEXT: Antenatal counseling in cases of agenesis of the corpus callosum (ACC) is challenging. OBJECTIVES: To ascertain the outcome in fetuses with isolated complete ACC and partial ACC. DATA SOURCES: Medline, Embase, CINAHL, and Cochrane databases. STUDY SELECTION: Studies reporting a prenatal diagnosis of ACC. The outcomes observed were: chromosomal abnormalities at standard karyotype and chromosomal microarray (CMA) analysis, additional anomalies detected only at prenatal MRI and at postnatal imaging or clinical evaluation, concordance between prenatal and postnatal diagnosis and neurodevelopmental outcome...
September 2016: Pediatrics
Suping Li, Huaxiang Shen, Yuxia Jin, Xiaodan Liu, Qinhao Song, Zhengyou Miao
OBJECTIVE: To explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis. METHODS: The fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH). RESULTS: The karyotype of the fetus was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis as a 34...
October 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Lin Zhang, Meihong Ren, Guining Song, Xuexia Liu, Jing Zhang, Jianliu Wang
OBJECTIVE: To conduct genetic testing and prenatal diagnosis for a pregnant women with growth retardation, severe mental retardation, and a history of adverse pregnancies. METHODS: G-banded chromosome analysis, fluorescence in situ hybridization (FISH), and whole genome DNA microarray were used to analyze the patient and her fetus. RESULTS: The women was found to be a chimera containing two cell lines with 47 and 46 chromosomes, respectively...
October 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Merlin G Butler
This review summarizes the status of genetic laboratory testing in Prader-Willi syndrome (PWS) with different genetic subtypes, most often a paternally derived 15q11-q13 deletion and discusses benefits and limitations related to prenatal screening. Medical literature was searched for prenatal screening and genetic laboratory testing methods in use or under development and discussed in relationship to PWS. Genetic testing includes six established laboratory diagnostic approaches for PWS with direct application to prenatal screening...
August 18, 2016: Prenatal Diagnosis
Eran Bornstein, Sharon Berger, Sau W Cheung, Kristen T Maliszewski, Ankita Patel, Amber N Pursley, Erez Lenchner, Carlos Bacino, Arthur L Beaudet, Michael Y Divon
Objective To assess the additive value of prenatal chromosomal microarray analysis (CMA) for all indications and the likelihood of detecting pathologic copy number variations (CNVs) based on specific indications. Methods A retrospective analysis was performed on amniocentesis and chorionic villi sampling results obtained between 2010 and 2014 in a single institution. A total of 3,314 consecutive patients undergoing invasive genetic testing for different indications were offered CMA in addition to standard karyotype...
August 17, 2016: American Journal of Perinatology
Lean Beulen, Brigitte H W Faas, Ilse Feenstra, John M G van Vugt, Mireille N Bekker
OBJECTIVE: This study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing for pregnancies with abnormal ultrasound findings. METHOD: A retrospective analysis was performed of 251 single and multiple pregnancies at high risk for fetal chromosomal abnormalities based on ultrasonographic examination, where NIPT was performed as first-tier genetic test. NIPT was performed by massively parallel sequencing of cell-free DNA in maternal plasma, allowing genome-wide detection of whole-chromosome as well as partial autosomal aneuploidies, as currently in the Dutch laboratories, sex chromosomes are not analysed...
August 12, 2016: Ultrasound in Obstetrics & Gynecology
Woori Jang, Hyojin Chae, Jiyeon Kim, Jung-Ok Son, Seok Chan Kim, Bo Kyung Koo, Myungshin Kim, Yonggoo Kim, In Yang Park, In Kyung Sung
BACKGROUND: Marker chromosomes are small supernumerary chromosomes that cannot be unambiguously identified by chromosome banding techniques alone. However, the precise characterization of marker chromosomes is important for prenatal diagnosis and proper genetic counseling. In this study, we evaluated the chromosomal origin of marker chromosomes using a combination of banding cytogenetics and molecular cytogenetic techniques including diverse fluorescence in situ hybridization (FISH) assays and array comparative genomic hybridization (array CGH)...
2016: Molecular Cytogenetics
Lotte Hatt, Mads M Aagaard, Cathrine Bach, Jesper Graakjaer, Steffen Sommer, Inge E Agerholm, Steen Kølvraa, Anders Bojesen
Methylation-based non-invasive prenatal testing of fetal aneuploidies is an alternative method that could possibly improve fetal aneuploidy diagnosis, especially for trisomy 13(T13) and trisomy 18(T18). Our aim was to study the methylation landscape in placenta DNA from trisomy 13, 18 and 21 pregnancies in an attempt to find trisomy-specific methylation differences better suited for non-invasive prenatal diagnosis. We have conducted high-resolution methylation specific bead chip microarray analyses assessing more than 450,000 CpGs analyzing placentas from 12 T21 pregnancies, 12 T18 pregnancies and 6 T13 pregnancies...
2016: PloS One
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