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"Trisomy 21"

Pawel Sadlecki, Marek Grabiec, Pawel Walentowicz, Malgorzata Walentowicz-Sadlecka
BACKGROUND: In recent years, determination of personalized risk for fetal chromosomal anomalies emerged as an important component of prenatal genetic counseling. Women in whom fetal risk for chromosomal aberrations is elevated are offered further testing. The aim of this study was to identify factors that may influence the decision to refuse invasive prenatal testing aimed at determination of fetal karyotype in a group of patients at increased risk of trisomy 21. METHODS: The analysis included 177 patients with singleton pregnancy, whose personalized risk score for trisomy 21 calculated on the basis of the combined test exceeded 1:300...
May 16, 2018: BMC Pregnancy and Childbirth
Neng-Wei Hu, Grant T Corbett, Steven Moore, Igor Klyubin, Tiernan T O'Malley, Dominic M Walsh, Frederick J Livesey, Michael J Rowan
The early stages of Alzheimer's disease are associated with synaptic dysfunction prior to overt loss of neurons. To identify extracellular molecules that impair synaptic plasticity in the brain, we studied the secretomes of human iPSC-derived neuronal models of Alzheimer's disease. When introduced into the rat brain, secretomes from human neurons with either a presenilin-1 mutation, amyloid precursor protein duplication, or trisomy of chromosome 21 all strongly inhibit hippocampal long-term potentiation. Synaptic dysfunction caused by presenilin-1 mutant and amyloid precusor protein duplication secretomes is mediated by Aβ peptides, whereas trisomy of chromosome 21 (trisomy 21) neuronal secretomes induce dysfunction through extracellular tau...
May 15, 2018: Cell Reports
Kun Sun, Peiyong Jiang, Ada I C Wong, Yvonne K Y Cheng, Suk Hang Cheng, Haiqiang Zhang, K C Allen Chan, Tak Y Leung, Rossa W K Chiu, Y M Dennis Lo
Cell-free DNA in human plasma is nonrandomly fragmented and reflects genomewide nucleosomal organization. Previous studies had demonstrated tissue-specific preferred end sites in plasma DNA of pregnant women. In this study, we performed integrative analysis of preferred end sites with the size characteristics of plasma DNA fragments. We mined the preferred end sites in short and long plasma DNA molecules separately and found that these "size-tagged" ends showed improved accuracy in fetal DNA fraction estimation and enhanced noninvasive fetal trisomy 21 testing...
May 14, 2018: Proceedings of the National Academy of Sciences of the United States of America
Chuan Wu, Wei Li
Acute lymphoblastic leukaemia (ALL) is a prevalent form of pediatric cancer that accounts for 70-80% of all leukemias. Genome-based analysis, exome sequencing, transcriptomics and proteomics have provided insight into genetic classification of ALL and helped identify novel subtypes of the disease. B and T cell-based ALL are two well-characterized genomic subtypes, significantly marked by bone marrow disorders, along with mutations in trisomy 21 and T53. The other ALLs include Early T-cell precursor ALL, Philadelphia chromosome-like ALL, Down syndrome-associated ALL and Relapsed ALL...
June 2018: Critical Reviews in Oncology/hematology
Patrick J Lao, Ben L Handen, Tobey J Betthauser, Karly A Cody, Annie D Cohen, Dana L Tudorascu, Charles K Stone, Julie C Price, Sterling C Johnson, William E Klunk, Bradley T Christian
The focus of Alzheimer's disease (AD) neuroimaging research has shifted towards an investigation of the earliest stages of AD pathogenesis, which manifests in every young adult with Down syndrome (DS; trisomy 21) resulting from a deterministic genetic predisposition to amyloid precursor protein overproduction. Due to morphological differences in brain structure in the DS population, special consideration must be given to processing pipelines and the use of normative atlases developed for the non-DS population...
May 11, 2018: Brain Imaging and Behavior
Myriam Pidoux
Caregivers' practices with children with trisomy 21 can be influenced by many factors. The issues of antenatal diagnosis and the termination of pregnancy for medical reasons can cause contradictory feelings. Collective and individual defence strategies can however be put in place to support the children and their families along their care and life pathway.
May 2018: Soins. Pédiatrie, Puériculture
Florence Amblard, Françoise Devillard, Léa Dumortier, Véronique-Aurélie Bricout
The life expectancy of people with trisomy 21 has increased over recent decades. More than half live over 55 years today, compared to just 9 years in 1929. This progress is thanks to easier access to care and improved medical diagnoses as well as greater physical and psychological stimulation. Continued monitoring remains essential but it becomes less systematic as children grow up, despite the risk of certain complications increasing from puberty. Consultations devoted to trisomy 21 aim to facilitate access to care through an adapted care pathway...
May 2018: Soins. Pédiatrie, Puériculture
Caroline Philippe Stenger, Corinne Mary, Ophélie Nartz, Emmanuelle Stephan
A centre for early medico-social action supports children aged between 0 and 6 with a disability or likely to present a developmental disorder. One such centre has put in place a specific multidisciplinary follow-up of children with trisomy 21 and their family, with the added support of a wide network of partners. Particular attention is paid to providing early guidance and support for the parents.
May 2018: Soins. Pédiatrie, Puériculture
Marie Vincienne, Camille Deput-Rampon
The announcement of trisomy 21 in a child, either in the prenatal or postnatal period, is a difficult moment for the parents as well as for the caregivers. The latter must be skilled in the general principles of communication and be able to adapt to each specific situation while providing the necessary medical care, support and empathy.
May 2018: Soins. Pédiatrie, Puériculture
Marie-José Riss-Minervini
The antenatal diagnosis tools now available feed the fantasy of the 'perfect baby'. In this context and in parallel to a whole range of other foetal pathologies, trisomy 21 represents an emblematic situation which acts as a reminder that it is ethically essential to keep open the question of terminating or continuing with a pregnancy. Multidisciplinary team work remains the best safeguard against possible abuses.
May 2018: Soins. Pédiatrie, Puériculture
Carine Vassy
Social representations of trisomy 21 have evolved considerably since its first descriptions in France in the 19th century. Today contradictory trends are at work. Some convey alarmist and stereotypical images while others favour greater understanding of life with trisomy 21.
May 2018: Soins. Pédiatrie, Puériculture
Aimé Ravel
Trisomy 21 remains relevant today. As patients' life expectancy increases, medical monitoring shows the importance of screening for associated complications such as epilepsy and sleep apnoea. For caregivers, it constitutes a care model for intellectually disabled people notably with regard to anxiety, poor expression of pain and family suffering. Scientific advances raise hope of progress in therapeutic practices.
May 2018: Soins. Pédiatrie, Puériculture
Ron Hochstenbach, Martin G Elferink, Patrick H A van Zon, Klaske D Lichtenbelt, Jeske van Harssel, Heleen Schuring-Blom, Godelieve C M L Page-Christiaens
One of the confounders in noninvasive prenatal testing (NIPT) is the vanishing twin phenomenon. Prolonged contribution to the maternal Cell-free DNA (cfDNA) pool by cytotrophoblasts representing a demised, aneuploid cotwin may lead to a false-positive outcome for a normal, viable twin. We show that a vanishing trisomy-14 twin contributes to cfDNA for more than 2 weeks after demise.
May 2018: Clinical Case Reports
Maria Chiara Pelleri, Chiara Cattani, Lorenza Vitale, Francesca Antonaros, Pierluigi Strippoli, Chiara Locatelli, Guido Cocchi, Allison Piovesan, Maria Caracausi
Down syndrome (DS) is due to the presence of an extra full or partial chromosome 21 (Hsa21). The identification of genes contributing to DS pathogenesis could be the key to any rational therapy of the associated intellectual disability. We aim at generating quantitative transcriptome maps in DS integrating all gene expression profile datasets available for any cell type or tissue, to obtain a complete model of the transcriptome in terms of both expression values for each gene and segmental trend of gene expression along each chromosome...
2018: Frontiers in Genetics
Ji Hyae Lim, You Jung Han, Hyun Jin Kim, Moon Young Kim, So Yeon Park, Youl-Hee Cho, Hyun Mee Ryu
BACKGROUND: The most frequent chromosomal aneuploidy is trisomy 21 (T21) that is caused by an extra copy of chromosome 21. The imbalance of whole genome including genes and microRNAs contributes to the various phenotypes of T21. However, the integrative association between genes and microRNAs in the T21 placenta has yet to be determined. METHODS: We analyzed the expressions of genes and microRNAs in the whole genomes of chorionic villi cells from normal and T21 human fetal placentas based on our prior studies...
May 9, 2018: BMC Medical Genomics
Chia-Fan Lee, Chia-Hsuan Lee, Wan-Yi Hsueh, Ming-Tzer Lin, Kun-Tai Kang
STUDY OBJECTIVES: To estimate the prevalence of obstructive sleep apnea (OSA) in children with Down syndrome. METHODS: Two authors independently searched databases, namely PubMed, MEDLINE, EMBASE, and the Cochrane Review database. The keywords used were "Down syndrome," "Trisomy 21," "OSA," "sleep apnea syndromes," "polysomnography" and "polygraphy." The prevalence of OSA based on apnea-hypopnea index (AHI) greater than 1, 1...
April 30, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
Nazia Saiyed, Sonal Bakshi, Srinivasan Muthuswamy, Sarita Agarwal
Trisomy 21 is a genetic condition caused when chromosomes fail to separate during meiosis. We have studied conventional karyotype and QF-PCR using STR markers with high polymorphism and heterogeneity and the results were analyzed, to determine the paternal and meiotic origin of trisomy 21. This study was conducted using a detailed questionnaire to include: paternal, maternal, clinical and family history for various confounding factors such as age and regional environmental exposures where the parents resided...
April 24, 2018: Reproductive Toxicology
Kasper Pihl, Steen Sørensen, Mona Nystad, Ganesh Acharya, Finn S Jørgensen
OBJECTIVE: The aim of this study was to compare the laeverin level in maternal serum from first trimester (11-14 weeks) of pregnancy between normal pregnancies and pregnancies that later developed preeclampsia (PE). MATERIAL AND METHODS: This was a case-cohort study. The laeverin concentration was measured in cases with preterm PE (n = 55), term PE (n = 95), and a reference group of randomly selected women with normal pregnancy outcome (n = 200) in stored serum samples collected from the double-test as part of the combined first trimester trisomy 21 screening program...
April 22, 2018: Journal of Maternal-fetal & Neonatal Medicine
Philipp Wagner, Jiri Sonek, Katrin Eberle, Harald Abele, Markus Hoopmann, Natalia Prodan, Karl Oliver Kagan
OBJECTIVE: To examine whether in fetuses with trisomy 21 (T21), the ductus venosus (DV) flow differs in presence of a major cardiac defect (CHD) and whether this affects the risk distribution in first trimester screening for T21. METHODS: Retrospective study involving pregnant women who underwent first trimester screening. This involves an examination of the CRL, the NT, the DV flow, and the heart. 3 groups of fetuses were examined: euploid without CHD, T21 with and without CHD...
April 16, 2018: Prenatal Diagnosis
Ambreen Asim, Sarita Agarwal
Objective: Early detection of high-risk pregnancies for Down syndrome (DS) is the main target of offering prenatal diagnosis. Segmental duplication-quantitative fluorescent-polymerase chain reaction (SD-QF-PCR) can be used as an alternative method for prenatal diagnosis of DS. SD-QF-PCR involves SD sequences between the test and control chromosomes to detect aneuploidies. SD are two similar sequences with different fragment lengths, located on two different chromosomes. When these SD regions are amplified, the peak ratio between the two different chromosomes remains as 0...
March 2018: Turkish Journal of Obstetrics and Gynecology
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