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Down Syndrome Screening

Momoko Inoue, Kazuhiro Kajiwara, Ayumi Yamaguchi, Tohru Kiyono, Osamu Samura, Hidenori Akutsu, Haruhiko Sago, Aikou Okamoto, Akihiro Umezawa
Down syndrome is the most frequent chromosomal abnormality among live-born infants. All Down syndrome patients have mental retardation and are prone to develop early onset Alzheimer's disease. However, it has not yet been elucidated whether there is a correlation between the phenotype of Down syndrome and the extra chromosome 21. In this study, we continuously cultivated induced pluripotent stem cells (iPSCs) with chromosome 21 trisomy for more than 70 weeks, and serendipitously obtained revertant cells with normal chromosome 21 diploids from the trisomic cells during long-term cultivation...
February 13, 2019: Laboratory Investigation; a Journal of Technical Methods and Pathology
Jingxia Liu, Xihua Chen, Qinqin Wang, Mengmeng Xiao, Donglai Zhong, Wei Sun, Guangyu Zhang, Zhiyong Zhang
Field-effect transistor (FET) biosensors based on low-dimensional materials present the advantages of low cost, high speed, small size, and excellent compatibility with integrated circuits (ICs). In this work, we fabricated highly sensitive FET-based DNA biosensors based on chemical vapor deposition (CVD)-grown monolayer MoS2 films in batches and explored their application in noninvasive prenatal testing (NIPT) for trisomy 21 syndrome. Specifically, MoS2 was functionalized with gold nanoparticles (Au NPs) of an optimized size and at an ideal density, and then, probe DNAs for the specific capture of target DNAs were immobilized on the nanoparticles...
February 13, 2019: Nano Letters
Sonja M Sachse, Sam Lievens, Luís F Ribeiro, Dan Dascenco, Delphine Masschaele, Katrien Horré, Anke Misbaer, Nele Vanderroost, Anne Sophie De Smet, Evgenia Salta, Maria-Luise Erfurth, Yoshiaki Kise, Siegfried Nebel, Wouter Van Delm, Stéphane Plaisance, Jan Tavernier, Bart De Strooper, Joris De Wit, Dietmar Schmucker
DSCAM and DSCAML1 are immunoglobulin and cell adhesion-type receptors serving important neurodevelopmental functions including control of axon growth, branching, neurite self-avoidance, and neuronal cell death. The signal transduction mechanisms or effectors of DSCAM receptors, however, remain poorly characterized. We used a human ORFeome library to perform a high-throughput screen in mammalian cells and identified novel cytoplasmic signaling effector candidates including the Down syndrome kinase Dyrk1a, STAT3, USP21, and SH2D2A...
February 11, 2019: EMBO Journal
Gwendolin Manegold-Brauer, Ron Maymon, Shimrit Shor, Howard Cuckle, Ulrich Gembruch, Annegret Geipel
PURPOSE: To perform a multicenter prospective study of ultrasound prenasal thickness (PT), and nasal bone length (NBL) measurement at 11-14 weeks' gestation. METHODS: Ultrasound PT and NBL determination was performed in 504 normal fetuses and 17 fetuses with Down's syndrome (DS). Measurements were made from mid-sagittal 2D images acquired using a standardized technique during nuchal translucency (NT) examination. PT and NBL values were expressed in multiples of the gestation-specific normal median (MoM) and as the PT/NBL ratio...
February 9, 2019: Archives of Gynecology and Obstetrics
Anne-Marie Laberge, Stanislav Birko, Marie-Ève Lemoine, Jessica Le Clerc-Blain, Hazar Haidar, Aliya O Affdal, Charles Dupras, Vardit Ravitsky
OBJECTIVE: This study sought to assess Canadian pregnant women's and their partners' preferences for information about non-invasive prenatal testing (NIPT). METHODS: Pregnant women and their partners across Canada were surveyed as part of the Personalized Genomics for prenatal Aneuploidy Screening Using maternal blood (PEGASUS) study. RESULTS: A total of 882 pregnant women and 395 partners participated. Women preferred being informed by a physician (77...
February 7, 2019: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Limalemla Jamir, Mona Duggal, Ritu Nehra, Pushpendra Singh, Sandeep Grover
OBJECTIVE: Penetration of mobile technology is rapidly rising. Excessive use leads to Technology addiction, which often start early in adolescence. The purpose of the present study was to assess Technology addiction and its correlates among school students in rural India. METHODS: This cross sectional study was conducted among 885 school students in north India. Four schools were selected and participants aged 13-18 years, were enrolled randomly. A self-designed 45 item questionnaire was used to evaluate dependence syndrome (intense desire, impaired control, tolerance, withdrawal, persistence despite harm, neglect of alternate pleasure) as used for substance dependence in ICD-10...
January 24, 2019: Asian Journal of Psychiatry
Michelle Cornacchia, Janis Sethness, Philip Alapat, Yu-Hsiang Lin, Cynthia Peacock
Obstructive sleep apnea (OSA) is a common sleep disorder affecting approximately 16% of adults (24% of men and 9% of women), and, if untreated, it can cause significant complications ( Young, 2009 ). This study evaluates 56 adult patients with Down syndrome and analyzed retrospective data to determine the: (1) prevalence of OSA, (2) severity of OSA, and (3) association between body mass index (BMI) and OSA. Of those participants that had polysomnography (PSG) testing available, 82.1% were diagnosed with OSA, divided by severity into mild (45...
January 2019: American Journal on Intellectual and Developmental Disabilities
Anouk F M van Gijzen, Elsbeth D M Rouers, Florens Q M P van Douveren, Jeanne Dieleman, Johannes G E Hendriks, Feico J J Halbertsma, Levinus A Bok
Guidelines for children with Down syndrome (DS) suggest to perform an annual hip screening to enable early detection of developmental dysplasia of the hip (DDH). How to perform this screening is not described. Delayed detection can result in disabling osteoarthritis of the hip. Therefore, we determined the association between clinical history, physical, and radiological examination in diagnosing DDH in children with DS. Referral centers for children with DS were interviewed to explore variety of hip examination throughout the Netherlands...
February 1, 2019: European Journal of Pediatrics
Lotte Saes, Lutgarde C P Govaerts, Maarten F C M Knapen, Pieternella J Lugtenburg, Ingrid A Boere, Robert-Jan H Galjaard
Since 2017, the non-invasive prenatal test (NIPT) has been offered to all pregnant woman in the Netherlands in the context of the TRIDENT-2 study, which has been implemented as a trial within the Dutch national screening programme for Down's, Edwards' and Patau's syndrome. The NIPT examines cell-free DNA in maternal blood. A small proportion of this DNA is of placental origin, but a vast proportion originates from the expectant mother. Findings other than the aforementioned syndromes are considered incidental...
January 24, 2019: Nederlands Tijdschrift Voor Geneeskunde
Hilary Bowman-Smart, Julian Savulescu, Cara Mand, Christopher Gyngell, Mark D Pertile, Sharon Lewis, Martin B Delatycki
Non-invasive prenatal testing (NIPT) is at the forefront of prenatal screening. Current uses for NIPT include fetal sex determination and screening for chromosomal disorders such as trisomy 21 (Down syndrome). However, NIPT may be expanded to many different future applications. There are a potential host of ethical concerns around the expanding use of NIPT, as examined by the recent Nuffield Council report on the topic. It is important to examine what NIPT might be used for before these possibilities become consumer reality...
January 24, 2019: Journal of Medical Ethics
Albert Tu, Edward Melamed, Mark D Krieger
BACKGROUND/AIMS: Down syndrome is the most common inherited disorder. Some patients develop atlantoaxial instability. Existing screening guidelines were developed prior to availability of MRI. We present predictors for deficit using dynamic MRI of the craniocervical junction. METHODS: A retrospective review of Down syndrome patients from 2001 to 2015 was carried out. Patients were considered symptomatic if they had clinical deficits or signal change on MRI. Measurements were taken at the atlantoaxial junction and structural abnormalities noted...
January 24, 2019: Pediatric Neurosurgery
Seyed Hamed Mousavi, Juha M Hijmans, Reza Rajabi, Ron Diercks, Johannes Zwerver, Henk van der Worp
INTRODUCTION: Abnormal kinematics have been implicated as one of the major risk factors for lower limb tendinopathy (LLT). OBJECTIVE: To systematically review evidence for kinematic risk factors for LLT in runners. METHODS: Individual electronic searches in PubMed, EMBASE and Web of Science were conducted. Two reviewers screened studies to identify observational studies reporting kinematic risk factors in runners with LLT compared to healthy controls...
January 11, 2019: Gait & Posture
Sara Ahmed, Shereen Khattab, Chris Haddad, Jessica Babineau, Andrea Furlan, Dinesh Kumbhare
Myofascial pain is prevalent chronic pain disorder that is comorbid with many conditions. Strengthening and stretching exercises are capable of inducing hypoalgesic effects in people with myofascial pain syndrome. The goal of this systematic review was to summarize the effects of aerobic exercise on the management of myofascial pain. A comprehensive database search was conducted. A total of 1,331 articles were identified for review. One article was eligible for inclusion after full screening. Risk of bias was assessed using the Downs and Black quality assessment questionnaire (1998)...
December 2018: Journal of Exercise Rehabilitation
Simona Farcas, Dragos Erdelean, Flavia Anne-Elise Szekely, Dan Navolan, Nicoleta Andreescu, Andreea Cioca
OBJECTIVE: We describe a rare case of "pure" 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH). CASE REPORT: A 39-year-old, primigravida woman underwent amniocentesis at 23 weeks of gestation because of an abnormal second trimester maternal serum screening for Down syndrome. Conventional cytogenetic analysis demonstrated a karyotype of 46,XX,der(8) (q24.12q24...
January 2019: Taiwanese Journal of Obstetrics & Gynecology
Sujinun Nunthapiwat, Ratanaporn Sekararithi, Chanane Wanapirak, Supatra Sirichotiyakul, Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Theera Tongsong
OBJECTIVE: To determine the association between second-trimester serum Down syndrome screening (alpha-fetoprotein [AFP] free beta-human chorionic gonadotropin [b-hCG] unconjugated estriol [uE3]) and preterm birth and to create predictive models for preterm birth. METHODS: Secondary analysis on a prospective database of pregnancies undergoing second-trimester screen with complete follow-up. The multiples of medians (MoM) of the biomarkers were compared between the group of term, preterm (< 37 weeks), early preterm (< 34 weeks), and very early preterm (< 32 weeks) delivery...
January 2, 2019: Gynecologic and Obstetric Investigation
Maria A Stanley, Nicole Shepherd, Nichole Duvall, Sandra B Jenkinson, Hasnaa E Jalou, Deborah C Givan, Gregory H Steele, Charlene Davis, Marilyn J Bull, Donna U Watkins, Randall J Roper
Feeding and swallowing disorders have been described in children with a variety of neurodevelopmental disabilities, including Down syndrome (DS). Abnormal feeding and swallowing can be associated with serious sequelae such as failure to thrive and respiratory complications, including aspiration pneumonia. Incidence of dysphagia in young infants with DS has not previously been reported. To assess the identification and incidence of feeding and swallowing problems in young infants with DS, a retrospective chart review of 174 infants, ages 0-6 months was conducted at a single specialty clinic...
December 27, 2018: American Journal of Medical Genetics. Part A
Jasmina Durković, Milan Ubavić, Milica Durković, Tibor Kis
Background: Genetic screening for chromosomopathy is performed in the first trimester of pregnancy by determining fetal nuchal translucency (NT), and the pregnancy associated plasma protein-A (PAPP-A) and free human chorionic gonadotropin (free-beta HCG) biomarkers in maternal serum. Methods: We tested the sensitivity, specificity, positive and negative expected values of each marker with the aim of setting a model for prenatal screening readings. Statistical data treatment has been performed on a sample of 340 pregnant women with positive results of prenatal screening...
January 2018: Journal of Medical Biochemistry
Parisa Salehi, Lisa Herzig, George Capone, Amanda Lu, Assaf P Oron, Soo-Jeong Kim
Prader-Willi syndrome (PWS, OMIM # 176270) and Down syndrome (DS, OMIM #190685) are neurodevelopmental genetic disorders with higher rates of autism spectrum disorder (ASD). The Aberrant Behavior Checklist (ABC) is a caregiver rating scale that assesses maladaptive behaviors. Overlapping symptoms exist between PWS, DS, and ASD, including maladaptive behaviors. We aimed to evaluate ABC profiles between PWS, DS, and ASD alone (without known genetic syndrome). In addition, we hypothesized PWS and DS with a comorbid ASD positive screen or diagnosis would have similar ABC profiles to ASD alone...
December 21, 2018: American Journal of Medical Genetics. Part A
Adnan Alkhatib
Pregnancy produces profound physiological changes that increase in significance as it progresses. These changes include hormonal changes, metabolic changes, increases of plasma volume up to 50%, alterations to the balance of the coagulation system in favour of clotting, and GFR increases to a peak 50% above prepregnancy levels. Since healthy physiological changes occur during pregnancy, different reference intervals may be needed. First antenatal screens usually include Complete blood count, Blood group and antibody screen, rubella antibody status, syphilis serology, Hepatitis B serology and HIV abs testing...
December 2018: EJIFCC
Demetrios Rizos
Over the last 4 decades the practice of prenatal screening has evolved from the second-trimester triple test to complex combinations of biophysical and biochemical testing for aneuploidy, testing of fetal DNA in the maternal circulation and development of screening tests for adverse pregnancy outcomes. Presently, combined test in the 1st trimester is the preferred multimarker screening protocol in most countries. Since 2010, cell-free fetal DNA (cffDNA) in maternal plasma, in combination with the next generation sequencing techniques, made a big breakthrough step in screening for Down Syndrome (DS) and other aneuploidies...
December 2018: EJIFCC
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