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"Trisomy 21"

Yan Du, Lanting Chen, Jing Lin, Jun Zhu, Na Zhang, Xuemin Qiu, Dajin Li, Ling Wang
Recurrent spontaneous abortion (RSA) is a multifactorial disease of which the exact causes are still unknown. In the current study, we aimed to analyze the distribution of abnormal embryonic karyotypes in RSA. 781 RSA patients of 17 hospitals in Shanghai from January 2014 to September 2016 were enrolled. Fetal villus tissues were collected during uterine curettage and then cultured in situ for karyotyping. All of the 781 cases were successfully cultured. There were 393 cases of abnormal karyotypes, accounting for 50...
2018: Bioscience Trends
Naoki Masaki, Yuriko Saiki, Masato Endo, Kay Maeda, Osamu Adachi, Masatoshi Akiyama, Shunsuke Kawamoto, Yoshikatsu Saiki
BACKGROUND: Pulmonary hypertension (PH) is more progressive in trisomy 21 patients. However, pulmonary arteriopathic lesions in these patients have not been fully characterized histopathologically.Methods and Results:A retrospective review of a lung biopsy registry identified 282 patients: 188 patients with trisomy 21 (Group D) and 94 without (Group N). The mean age at lung biopsy was 3 and 7 months (P<0.0001). Pulmonary arterial pressure (PAP) and pulmonary vascular resistance were similar between the 2 groups...
March 16, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
Mio Noma, Muneaki Matsubara, Chiho Tokunaga, Tomomi Nakajima, Bryan James Mathis, Hiroaki Sakamoto, Yuji Hiramatsu
BACKGROUND: Although pulmonary artery banding (PAB) is a common palliative procedure for pediatric heart malformation, there are concerns of pressure overload and concomitant immune reactions in the right ventricle causing postsurgical complications such as pericardial effusion. At this time, no clear guidelines as to potential risk factors or procedural contraindications have been widely disseminated. Therefore, a study was undertaken to examine wide-ranging factors to find potential biomarkers for postsurgical pericardial effusion formation risk...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
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
Sara Filoche, Beverley Lawton, Angela Beard, Anthony Dowell, Peter Stone
Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value...
December 2017: Journal of Primary Health Care
Bradley Pawlikowski, Nicole Dalla Betta, Tiffany Elston, Darian A Williams, Bradley B Olwin
Down syndrome, caused by trisomy 21, is characterized by a variety of medical conditions including intellectual impairments, cardiovascular defects, blood cell disorders and pre-mature aging phenotypes. Several somatic stem cell populations are dysfunctional in Down syndrome and their deficiencies may contribute to multiple Down syndrome phenotypes. Down syndrome is associated with muscle weakness but skeletal muscle stem cells or satellite cells in Down syndrome have not been investigated. We find that a failure in satellite cell expansion impairs muscle regeneration in the Ts65Dn mouse model of Down syndrome...
March 9, 2018: Scientific Reports
Gabriele Cipriani, Sabrina Danti, Cecilia Carlesi, Mario Di Fiorino
BACKGROUND: People with Down syndrome (DS) enjoy a longer life expectancy now than they ever have before and are therefore at greater risk of developing conditions associated with aging, including dementia. OBJECTIVES: To explore the phenomenon of dementia in DS. METHODS: Medline and Google Scholar searches were conducted for relevant articles, chapters, and books published until 2017. Search terms included Alzheimer's disease, cognitive impairment, dementia, DS, and trisomy 21...
January 1, 2018: American Journal of Alzheimer's Disease and Other Dementias
Jean-Marc Costa, Alexandra Letourneau, Romain Favre, Laurent Bidat, Joelle Belaisch-Allart, Jean-Marie Jouannic, Edwin Quarello, Marie-Victoire Senat, Bernard Broussin, Vassilis Tsatsaris, Adèle Demain, Pascale Kleinfinger, Laurence Lohmann, Hélène Agostini, Jean Bouyer, Alexandra Benachi
PurposeCell-free DNA (cfDNA) as a primary screening test has been available for years but few studies have addressed this option in a prospective manner. The question is of interest after reports that maternal serum screening (MSS) is less accurate for pregnancies resulting from assisted reproduction technologies (ART) than for spontaneous pregnancies (SP).MethodsA prospective interventional study was designed to address the performances of cfDNA compared with MSS in pregnancies with or without ART. Each patient was offered both MSS and cfDNA testing...
March 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Nan B Oldereid, Ulla-Britt Wennerholm, Anja Pinborg, Anne Loft, Hannele Laivuori, Max Petzold, Liv Bente Romundstad, Viveca Söderström-Anttila, Christina Bergh
BACKGROUND: Maternal factors, including increasing childbearing age and various life-style factors, are associated with poorer short- and long-term outcomes for children, whereas knowledge of paternal parameters is limited. Recently, increasing paternal age has been associated with adverse obstetric outcomes, birth defects, autism spectrum disorders and schizophrenia in children. OBJECTIVE AND RATIONALE: The aim of this systematic review is to describe the influence of paternal factors on adverse short- and long-term child outcomes...
February 15, 2018: Human Reproduction Update
Timothy J Lee, Daniel L Rolnik, Melody A Menezes, Andrew C McLennan, Fabricio da Silva Costa
STUDY QUESTION: Are fetal fraction, test failure rate and positive predictive value (PPV) of cell-free fetal DNA (cffDNA) testing different in singleton IVF conceptions compared to spontaneous conceptions? SUMMARY ANSWER: Fetal fraction is significantly lower; test failure rate is higher and PPV of cffDNA testing is lower in singleton pregnancies conceived by IVF than those conceived spontaneously. WHAT IS ALREADY KNOWN: cffDNA testing, which analyses circulating cffDNA in maternal blood, has very high accuracy for detection of trisomy 21 in the general obstetric population...
February 15, 2018: Human Reproduction
Bruno Corrado, Nadia Sommella, Gianluca Ciardi, Enza Raiano, Iris Scala, Pietro Strisciuglio, Clemente Servodio Iammarrone
BACKGROUND: The development of both gross and fine motor skills in a child with Down syndrome is generally delayed. The most seriously affected stage is the achievement of independent walking ability, which influences the onset of all following motor and cognityive skills. The study objectives were (a) to assess the time taken to achieve independent walking ability in a cohort of children with Down syndrome, (b) to examine differences in walking onset by patient characteristics, (c) to verify the effect of early physical therapy (Neurodevelopmental Treatment on the basis of Bobath Concept practised within the first months of life) in the achievement of that skill...
February 19, 2018: Minerva Pediatrica
Scheilla Bayitondere, Francois Biziyaremye, Catherine M Kirk, Hema Magge, Katrina Hann, Kim Wilson, Christine Mutaganzwa, Eric Ngabireyimana, Fulgence Nkikabahizi, Evelyne Shema, David B Tugizimana, Ann C Miller
BACKGROUND: In Africa, a high proportion of children are at risk for developmental delay. Early interventions are known to improve outcomes, but they are not routinely available. The Rwandan Ministry of Health with Partners In Health/Inshuti Mu Buzima created the Pediatric Development Clinic (PDC) model for providing interdisciplinary developmental care for high-risk infants in rural settings. As retention for chronic care has proven challenging in many settings, this study assesses factors related to retention to care after 12 months of clinic enrollment...
February 16, 2018: BMC Pediatrics
Chunhong Liu, Tao Yu, Zhuo Xing, Xiaoling Jiang, Yichen Li, Annie Pao, Justin Mu, Paul K Wallace, George Stoica, Andrei V Bakin, Y Eugene Yu
Individuals with Down syndrome (DS) frequently have hematopoietic abnormalities, including transient myeloproliferative disorder and acute megakaryoblastic leukemia which are often accompanied by acquired GATA1 mutations that produce a truncated protein, GATA1s. The mouse has been used for modeling DS based on the syntenic conservation between human chromosome 21 (Hsa21) and three regions in the mouse genome located on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. To assess the impact of the dosage increase of Hsa21 gene orthologs on the hematopoietic system, we characterized the related phenotype in the Dp(10)1Yey/+;Dp(16)1Yey/+;Dp(17)1Yey/+ model which carries duplications spanning the entire Hsa21 orthologous regions on Mmu10, Mmu16 and Mmu17, and the Dp(10)1Yey /+; Dp(16)1Yey /+; Dp(17)1Yey/+ ; Gata1 Yeym2 model which carries a Gata1s mutation we engineered...
January 12, 2018: Oncotarget
Fernanda Neumann, Stéphanie Gourdain, Christelle Albac, Alain D Dekker, Linh Chi Bui, Julien Dairou, Isabelle Schmitz-Afonso, Nathalie Hue, Fernando Rodrigues-Lima, Jean M Delabar, Marie-Claude Potier, Jean-Pierre Le Caër, David Touboul, Benoît Delatour, Kevin Cariou, Robert H Dodd
Inhibition of DYRK1A kinase, produced by chromosome 21 and consequently overproduced in trisomy 21 subjects, has been suggested as a therapeutic approach to treating the cognitive deficiencies observed in Down syndrome (DS). We now report the synthesis and potent DYRK1A inhibitory activities of fluoro derivatives of 3,5-di(polyhydroxyaryl)-7-azaindoles (F-DANDYs). One of these compounds (3-(4-fluorophenyl)-5-(3,4-dihydroxyphenyl)-1H-pyrrolo[2,3-b]pyridine, 5a) was selected for in vivo studies of cognitive rescuing effects in a standard mouse model of DS (Ts65Dn line)...
February 12, 2018: Scientific Reports
Lv-Yin Huang, Min Pan, Jin Han, Li Zhen, Xin Yang, Dong-Zhi Li
The aim of this study was to evaluate which chromosomal abnormalities in our cohort of foetuses with increased nuchal translucency (NT) in the first trimester of pregnancy could be detected by cell free (cf)DNA screening as well. There were 775 singleton pregnancies referred for cytogenetic testing due to an increased NT (≥3.0 mm). Chromosome aberrations were investigated using karyotyping or chromosomal microarray analysis (CMA). Karyotyping had been chosen for foetal cytogenetic testing by 446 patients, and CMA by 329 patients...
February 12, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Laura M Carlson, Emily Hardisty, Catherine C Coombs, Neeta L Vora
Cell-free DNA screening for fetal aneuploidy is a commonly used testing strategy in pregnancies at high risk for fetal aneuploidy. The use of cell-free DNA screening is expanding to the low-risk population, because the detection rate for trisomy 21 surpasses that of traditional screening modalities. Although the sensitivity and specificity of cell-free DNA are superior to traditional screening, false-positive results do occur and may indicate an adverse maternal health condition, including maternal mosaicism or, rarely, malignancy...
March 2018: Obstetrics and Gynecology
Bin Zhang, Lingyan Pan, Huiyan Wang, Jianbing Liu, Beiyi Lu, Yingping Chen, Wei Long, Bin Yu
OBJECTIVE To assess the performance of non-invasive prenatal testing (NIPT) based on massive parallel sequencing. METHODS A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing. Patients with high risks received further prenatal diagnosis. The outcome of all patients were followed up. RESULTS High-throughput sequencing detected 72 pregnancies with fetal autosomal chromosomal aneuploidy, including 57 cases of trisomy 21, 14 cases of trisomy 18, and 1 case of trisomy 13...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Gary Fruhman, Collin Miller, Erol Amon, Darbey Raible, Rachael Bradshaw, Kimberly Martin
OBJECTIVE: To examine whether obstetricians think that cardiac surgery is ethical in babies with common aneuploidies and whether insurance companies should be required to pay for these surgeries. STUDY DESIGN: A survey was e-mailed to 2,897 OB-GYNs and 898 (31%) actively practicing obstetricians responded to the survey. Respondents were asked whether it is ethical to offer cardiac surgery for babies with heart defects diagnosed with trisomies 21, 18, 13, and Turner Syndrome and whether insurance companies should be required to pay for such surgeries in cases of trisomy 18 or 13...
February 7, 2018: Prenatal Diagnosis
Nataliya Huleyuk, Iryna Tkach, Danuta Zastavna, Miroslaw Tyrka
Background: Telomeres are transcriptionally inactive genomic areas, which, if shortened, are associated with pathological processes, unsuccessful fertilization, aging, and death. Telomere dysfunction has also been linked to chromosomal rearrangements and genomic instability. The role of telomeres in postnatal life has been extensively studied and discussed both in physiological as well as in pathological processes. However, the role of telomere length in prenatal development is still poorly understood, and mainly concerns the preimplantation stage...
2018: Molecular Cytogenetics
Aldina Brás, António S Rodrigues, Bruno Gomes, José Rueff
In recent years numerous studies have indicated the importance of microRNAs (miRNA/miRs) in human pathology. Down syndrome (DS) is the most prevalent survivable chromosomal disorder and is attributed to trisomy 21 and the subsequent alteration of the dosage of genes located on this chromosome. A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR- 125b-2, let-7c and miR-99a. This overexpression may contribute to the neuropathology, congenital heart defects, leukemia and low rate of solid tumor development observed in patients with DS...
January 2018: Biomedical Reports
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