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Trisomy 21

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https://www.readbyqxmd.com/read/28430800/the-burden-of-trisomy-21-disrupts-the-proteostasis-network-in-down-syndrome
#1
Stefanos Aivazidis, Christina M Coughlan, Abhishek K Rauniyar, Hua Jiang, L Alexander Liggett, Kenneth N Maclean, James R Roede
Down syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21. Abnormalities in chromosome number have the potential to lead to disruption of the proteostasis network (PN) and accumulation of misfolded proteins. DS individuals suffer from several comorbidities, and we hypothesized that disruption of proteostasis could contribute to the observed pathology and decreased cell viability in DS. Our results confirm the presence of a disrupted PN in DS, as several of its elements, including the unfolded protein response, chaperone system, and proteasomal degradation exhibited significant alterations compared to euploid controls in both cell and mouse models...
2017: PloS One
https://www.readbyqxmd.com/read/28422838/opposite-chromosome-constitutions-due-to-a-familial-translocation-t-1-21-q43-q22-in-2-cousins-with-development-delay-and-congenital-anomalies-a-case-report
#2
Beata Aleksiūnienė, Rugilė Matulevičiūtė, Aušra Matulevičienė, Birutė Burnytė, Natalija Krasovskaja, Laima Ambrozaitytė, Violeta Mikštienė, Vaidas Dirsė, Algirdas Utkus, Vaidutis Kučinskas
RATIONALE: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. PATIENT CONCERNS AND DIAGNOSIS: We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb 1q43q44 deletion/21q22.2q22.3 duplication. Among other features, cognitive and motor development delay and craniofacial anomalies are present in both patients, whereas congenital heart defect and hearing impairment is only present in patient carrying 1q43q44 duplication/21q22...
April 2017: Medicine (Baltimore)
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
#3
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/28420516/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of%C3%A2-low-level-mosaic-trisomy-12-at-amniocentesis-associated-with%C3%A2-a%C3%A2-favorable-pregnancy-outcome
#4
Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of low-level mosaic trisomy 12. CASE REPORT: A 40-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+12[5]/46,XX[24] consistent with 17.2% (5/29) mosaicism for trisomy 12. Repeat amniocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XX,+12[4]/46,XX[6] consistent with 40% (4/10) mosaicism for trisomy 12. Interphase fluorescence in situ hybridization (FISH) on 112 uncultured amniocytes detected 23 cells with trisomy 12 consistent with 20...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28419568/the-influence-of-noninvasive-prenatal-testing-on-gestational-age-at-time-of-abortion-for-aneuploidy
#5
Sarah C Lassey, Emily S Reiff, Lori Dobson, Bryann Bromley, Louise Wilkins-Haug, Deborah Bartz, Sarah E Little
OBJECTIVE: To compare the gestational age at termination for trisomy 13, 18, or 21 (aneuploidy) before and after the introduction of noninvasive prenatal testing (NIPT). METHODS: A retrospective cohort of women undergoing termination for aneuploidy at two academic institutions and one private clinic. We compared two time periods: before and after the introduction of NIPT (2006-2011 and 2012-2014, respectively). Maternal demographics and clinical characteristics were abstracted from the medical record...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419500/antepartum-management-and-obstetric-outcomes-among-pregnancies-with-down-syndrome-from-diagnosis-to-delivery
#6
Stephanie H Guseh, Sarah E Little, Katherine Bennett, Virginia Silva, Louise E Wilkins-Haug
OBJECTIVE: Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide antenatal management. METHOD: Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. We reviewed demographic data, diagnostic testing, antenatal surveillance, obstetrics outcomes, and placental pathology. T-test, chi-square, and Fisher correction were used as indicated...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28417531/desmoid-type-fibromatosis-in-a-boy-with-down-syndrome
#7
Hisashi Ishida, Kousuke Chayama, Kiichiro Kanamitsu, Kana Washio, Takehiro Tanaka, Akira Shimada
Patients with Down syndrome (DS) have a markedly higher incidence of childhood leukemia, but a lower incidence of most solid tumors, compared with age-matched euploid individuals. Trisomy 21 might be protective against tumorigenesis because of several tumor suppressive mechanisms. Desmoid-type fibromatosis (DF) is a rare monoclonal, fibroblastic proliferation characterized by a variable clinical course. In recent reports, almost all cases of DF involved genomic alterations associated with activation of the Wnt/β-catenin pathway...
April 18, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
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/28416000/brain-tuberculoma-an-unusual-cause-of-stroke-in-a-child-with-trisomy-21-a-case-report
#9
Abdelmoneim E M Kheir, Salah A Ibrahim, Ahlam A Hamed, Badreldin M Yousif, Farouk A Hamid
BACKGROUND: Tuberculosis remains a public health problem in developing countries and is associated with lethal central nervous system complications. Intracranial tuberculomas occur in 13% of children with neurotuberculosis. Patients with trisomy 21 have an increased risk for stroke, which usually stems from cardiovascular defects. CASE PRESENTATION: We report a case of a 12-year-old Sudanese boy with trisomy 21 who was presented to our hospital with focal convulsions and right-sided weakness...
April 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28406537/non-invasive-prenatal-screening-versus-prenatal-diagnosis-by-array-comparative-genomic-hybridization-a-comparative-retrospective-study
#10
Alexandros Sotiriadis, Ioannis Papoulidis, Elisavet Siomou, Elena Papageorgiou, Makarios Eleftheriades, Vasilios Papadopoulos, Maria Alexiou, Emmanouil Manolakos, Apostolos Athanasiadis
OBJECTIVE: To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non-invasive prenatal screening (NIPS). METHODS: This is a comparative study using data from 2,779 fetuses, which underwent invasive prenatal diagnosis and the samples were analyzed using aCGH. The simulated NIPS assay would test for trisomies 21, 18, 13, monosomy X, 47,XXX, 47,XYY and 47,XXY. Indications for invasive testing were grouped into categories and the absolute, relative rates of pathogenic/likely pathogenic results of aCGH analysis that would not be detectable by NIPS, were calculated...
April 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28401157/engineering-of-systematic-elimination-of-a-targeted-chromosome-in-human-cells
#11
Hiroshi Sato, Hiroki Kato, Haruyoshi Yamaza, Keiji Masuda, Huong Thi Nguyen Nguyen, Thanh Thi Mai Pham, Xu Han, Yuta Hirofuji, Kazuaki Nonaka
Embryonic trisomy leads to abortion or congenital genetic disorders in humans. The most common autosomal chromosome abnormalities are trisomy of chromosomes 13, 18, and 21. Although alteration of gene dosage is thought to contribute to disorders caused by extra copies of chromosomes, genes associated with specific disease phenotypes remain unclear. To generate a normal cell from a trisomic cell as a means of etiological analysis or candidate therapy for trisomy syndromes, we developed a system to eliminate a targeted chromosome from human cells...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28397325/analysis-of-cell-free-dna-in-maternal-blood-in-screening-for-aneuploidies-updated-meta-analysis
#12
REVIEW
M M Gil, V Accurti, B Santacruz, M N Plana, K H Nicolaides
OBJECTIVE: To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies. DATA SOURCES: Searches of PubMed, Embase and the Cochrane library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January 2011, when the first such study was published and 31 December 2016...
April 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28397214/-clearance-of-free-fetal-dna-after-delivery-of-fetuses-carrying-chromosomal-aneuploidies
#13
Lifang Wu, Xiaoling Lin, Shaohua Tang, Xueqin Xu, Chong Chen
OBJECTIVE: To explore the rules for free fetal DNA clearance after delivery of fetuses carrying chromosomal aneuploidies. METHODS: For 10 women carrying 18-to-25-gestation-week singletons confirmed to have chromosomal abnormalities by amniotic karyotyping, 5 mL of peripheral venous blood was drawn respectively before and 15 minutes, 30 minutes, 60 minutes, 120 minutes, 3 hours, 6 hours, 9 hours, 12 hours, 24 hours, 48 hours and 72 hours after their elective termination of pregnancies...
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/28396582/a-pair-of-maternal-chromosomes-derived-from-meiotic-nondisjunction-in-trisomy-21-affects-nuclear-architecture-and-transcriptional-regulation
#14
Sayaka Omori, Hideyuki Tanabe, Kimihiko Banno, Ayumi Tsuji, Nobutoshi Nawa, Katsuya Hirata, Keiji Kawatani, Chikara Kokubu, Junji Takeda, Hidetoshi Taniguchi, Hitomi Arahori, Kazuko Wada, Yasuji Kitabatake, Keiichi Ozono
Eukaryotic genomes are organised into complex higher-order structures within the nucleus, and the three-dimensional arrangement of chromosomes is functionally important for global gene regulation. The existence of supernumerary chromosome 21 in Down syndrome may perturb the nuclear architecture at different levels, which is normally optimised to maintain the physiological balance of gene expression. However, it has not been clearly elucidated whether and how aberrant configuration of chromosomes affects gene activities...
April 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28385172/the-rate-of-invasive-testing-for-trisomy-21-is-reduced-after-implementation-of-nipt
#15
Louise Bjerregaard, Anne Betsagoo Stenbakken, Camilla Skov Andersen, Line Kristensen, Cecilie Vibeke Jensen, Peter Skovbo, Anne Nødgaard Sørensen
INTRODUCTION: The non-invasive prenatal test (NIPT) was introduced in the North Denmark Region in March 2013. NIPT is offered as an alternative to invasive tests if the combined first trimester risk of trisomy 21 (T21) is ≥ 1:300. The purpose of this study was to investigate the effect of NIPT implementation among high-risk pregnancies in a region with existing first-trimester combined screening for T21. The primary objective was to examine the effect on the invasive testing rate. METHODS: This was a retrospective observational study including high-risk singleton pregnancies in the North Denmark Region...
April 2017: Danish Medical Journal
https://www.readbyqxmd.com/read/28374408/morphological-alterations-in-the-hippocampus-of-the-ts65dn-mouse-model-for-down-syndrome-correlate-with-structural-plasticity-markers
#16
Olga Villarroya, Raúl Ballestín, Rosa López-Hidalgo, Maria Mulet, José Miguel Blasco-Ibáñez, Carlos Crespo, Juan Nacher, Javier Gilabert-Juan, Emilio Varea
Down syndrome (DS) is the most common chromosomal aneuploidy. Although trisomy on chromosome 21 can display variable phenotypes, there is a common feature among all DS individuals: the presence of intellectual disability. This condition is partially attributed to abnormalities found in the hippocampus of individuals with DS and in the murine model for DS, Ts65Dn. To check if all hippocampal areas were equally affected in 4-5 month adult Ts65Dn mice, we analysed the morphology of dentate gyrus granule cells and cornu ammonis pyramidal neurons using Sholl method on Golgi-Cox impregnated neurons...
April 4, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/28372492/prenatally-diagnosed-congenital-portosystemic-shunts
#17
Bérengère Francois, Alain Lachaux, Fréderic Gottrand, Stéphanie De Smet
AIM: Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the manifestations and evolution are poorly understood. The objective of this review is to describe the phenotype and evolution of forms diagnosed in the antenatal period. MATERIALS AND METHODS: We performed a systematic review of the literature cited in Pubmed between 1982 and 2016 for CPSS cases diagnosed during the fetal period...
April 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28371411/generation-of-integration-free-induced-pluripotent-stem-cells-from-urine-derived-cells-isolated-from-individuals-with-down-syndrome
#18
Young M Lee, Bruna L Zampieri, Jonah J Scott-McKean, Mark W Johnson, Alberto C S Costa
Down syndrome (DS) is a genetic disorder caused by trisomy 21 (T21). Over the past two decades, the use of mouse models has led to significant advances in the understanding of mechanisms underlying various phenotypic features and comorbidities secondary to T21 and even informed the design of clinical trials aimed at enhancing the cognitive abilities of persons with DS. In spite of its success, this approach has been plagued by all the typical limitations of rodent modeling of human disorders and diseases. Recently, several laboratories have succeeded in producing T21 human induced pluripotent stem cells (T21-iPSCs) from individuals with DS, which is emerging as a promising complementary tool for the study of DS...
March 28, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28369759/diagnostic-performance-and-costs-of-contingent-screening-models-for-trisomy-21-incorporating-non-invasive-prenatal-testing
#19
Susannah Maxwell, Peter O'Leary, Jan E Dickinson, Graeme K Suthers
BACKGROUND: Contingent screening for trisomy 21 using non-invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the detection of trisomy 21. AIM: To describe the diagnostic and economic performance of prenatal screening models for trisomy 21 that use non-invasive prenatal testing as a contingent screen across a range of combined first trimester screening risk cut-offs from a public health system perspective. METHODS: Using a hypothetical cohort of 300 000 pregnancies, we modelled the outcomes of 25 contingent non-invasive prenatal testing screening models and compared these to conventional screening, offering women with a high-risk (1 > 300) combined first trimester screening result an invasive test...
March 29, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28369516/comprehensive-chromosome-screening-and-gene-expression-analysis-from-the-same-biopsy-in-human-preimplantation-embryos
#20
Diego Marin, Yujue Wang, Xin Tao, Richard T Scott, Nathan R Treff
STUDY QUESTION: Can simultaneous comprehensive chromosome screening (CCS) and gene expression analysis be performed on the same biopsy of preimplantation human embryos? SUMMARY ANSWER: For the first time, CCS and reliable gene expression analysis have been performed on the same human preimplantation embryo biopsy. WHAT IS KNOWN ALREADY: A single trophectoderm (TE) biopsy is routinely used for many IVF programs offering CCS for selection of only chromosomally normal embryos for transfer...
March 23, 2017: Molecular Human Reproduction
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