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"Trisomy 21"

Alessandra Gasior, Giulia Brisighelli, Karen Diefenbach, Victoria Alison Lane, Carlos Reck, Richard J Wood, Marc Levitt
Introduction Functional constipation is a common problem in children. It usually can be managed with laxatives but a small subset of patients develop intolerable cramps and need to be temporarily treated with enemas. The senior author has previously reported: 1) open sigmoid resection as a surgical option, but this did not sufficiently reduce the laxative need, then 2) a transanal approach (with resection of rectosigmoid), but this led to a high rate of soiling due to extensive stretching of the anal canal and loss of the rectal reservoir...
October 25, 2016: European Journal of Pediatric Surgery
Erik Iwarsson, Bo Jacobsson, Jessica Dagerhamn, Thomas Davidson, Eduardo Bernabé, Marianne Heibert Arnlind
INTRODUCTION: To review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general pregnant population as well as to update the data on high-risk pregnancies. MATERIAL AND METHODS: Systematic Review and Meta-Analysis. PubMed, Embase and the Cochrane Library were searched. Methodological quality was rated using QUADAS and scientific evidence using GRADE. Summary measures of diagnostic accuracy were calculated using a bivariate random-effects model...
October 25, 2016: Acta Obstetricia et Gynecologica Scandinavica
Paula Castro, Shahid Zaman, Anthony Holland
People with Down's syndrome (DS) are at high risk for developing Alzheimer's disease (AD) at a relatively young age. This increased risk is not observed in people with intellectual disabilities for reasons other than DS and for this reason it is unlikely to be due to non-specific effects of having a neurodevelopmental disorder but, instead, a direct consequence of the genetics of DS (trisomy 21). Given the location of the amyloid precursor protein (APP) gene on chromosome 21, the amyloid cascade hypothesis is the dominant theory accounting for this risk, with other genetic and environmental factors modifying the age of onset and the course of the disease...
October 24, 2016: Journal of Neurology
Manuella Gautier, Michèle Gueneret, Corinne Plavonil, Eugénie Jolivet, Bruno Schaub
OBJECTIVE: To establish the normal reference range of fetal nasal bone length (NBL) during the second trimester in an Afro-Caribbean population and the likelihood ratio (LR) for fetal trisomy 21. METHODS: Prenatal records of euploid, non-malformed singleton fetuses who underwent second-trimester ultrasonographic scans at 20-24 weeks of gestation were retrospectively analyzed for NBL and gestational age (GA). Only Afro-Caribbean couples were selected. The relationship between fetal NBL and GA was determined...
October 21, 2016: Fetal Diagnosis and Therapy
Miyuki Nishiyama, Akihiko Sekizawa, Kohei Ogawa, Hideaki Sawai, Hiroaki Nakamura, Osamu Samura, Nobuhiro Suzumori, Setsuko Nakayama, Takahiro Yamada, Masaki Ogawa, Yukiko Katagiri, Jun Murotsuki, Yoko Okamoto, Akira Namba, Haruka Hamanoue, Masanobu Ogawa, Kiyonori Miura, Shunichiro Izumi, Yoshimasa Kamei, Haruhiko Sago
OBJECTIVE: To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan. METHODS: A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated. RESULTS: Among 931 fetuses with chromosome abnormalities, the total TOP rate was 75...
October 19, 2016: Prenatal Diagnosis
Sarah Crimmins, Lauren Doyle, Julia Slejko, Jerome N Kopelman, Ozhan Turan
OBJECTIVE: To compare the unit cost of noninvasive prenatal testing (cfDNA) in an urban population who did not have first trimester screening as a primary screening tool for trisomy 21(T21) to multiple marker screening (QUAD). METHODS: Retrospective study of all QUAD screens performed at a single center from 2013-2015. All QUAD screen performed between 15-21 weeks were included in the study. Exclusion criteria were patients without anatomy scans or delivery information...
October 19, 2016: Journal of Maternal-fetal & Neonatal Medicine
Sigrid Bairdain, David Zurakowski, Sara O Vargas, Nicole Stenquist, Molly McDonald, Meghan C Towne, David T Miller, Russell W Jennings, David B Kantor, Pankaj B Agrawal
BACKGROUND: Long-gap esophageal atresia (LGEA) may have clinical and syndromic presentations different from those of esophageal atresia (EA) that affects shorter segments of the esophagus (non-LGEA). This may suggest unique underlying developmental mechanisms. OBJECTIVES: We sought to characterize clinical differences between LGEA and non-LGEA by carefully phenotyping a cohort of EA patients, and furthermore to assess molecular genetic findings in a subset of them...
October 19, 2016: Neonatology
Dick Oepkes, Lieve C Page-Christiaens, Caroline J Bax, Mireille N Bekker, Catia M Bilardo, Elles M J Boon, G Heleen Schuring-Blom, Audrey B C Coumans, Brigitte H Faas, Robert-Jan H Galjaard, Attie T Go, Lidewij Henneman, Merryn V E Macville, Eva Pajkrt, Ron F Suijkerbuijk, Karin Huijsdens-vanAmsterdam, Diane Van Opstal, E J Joanne Verweij, Marjan M Weiss, Erik A Sistermans
OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome-wide Non-Invasive Prenatal Testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13. METHOD: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome...
October 17, 2016: Prenatal Diagnosis
E Sacide Çağlayan
Dual-specificity thyrosine phosphorylation-regulated kinase 1A (DYRK1A) is a strong therapeutic target to ameliorate cognitive functions of Down Syndrome (DS). Genetic normalization of Dyrk1a is sufficient to normalize early cortical developmental phenotypes in DS mouse models. Gyrencephalic human neocortical development is more complex than that in lissencephalic mice, hence cerebral organoids (COs) can be used to model early neurodevelopmental defects of DS. Single copy DYRK1A knockout COs (scDYRK1AKO-COs) can be generated from manipulated DS derived (DS-) induced pluripotent stem cells (iPSCs) and genetic normalization of DYRK1A is expected to result in corrected neurodevelopmental phenotypes that can be reminiscent of normal COs...
October 15, 2016: Cell Biology International
Teresa N Sparks, Mary E Norton, Monica Flessel, Sara Goldman, Robert J Currier
OBJECTIVE: To evaluate the observed incidence of Down syndrome in twins compared with that expected based on maternal age-matched singletons, which is the current clinical approach. METHODS: This was a retrospective review of California Prenatal Screening Program participants with expected delivery dates between July 1995 and December 2012. Cases confirmed prenatally or postnatally with a genetic imbalance leading to phenotypic Down syndrome (trisomy 21, mosaic trisomy 21, or translocations) were included...
October 6, 2016: Obstetrics and Gynecology
Guijie Qi, Jianping Yi, Baosheng Han, Heng Liu, Wanru Guo, Chong Shi, Lirong Yin
This study aimed to summarize the effects of noninvasive prenatal testing (NIPT) on aneuploidy among high-risk participants in Tangshan Maternal and Children Health Hospital.NIPT or invasive prenatal diagnosis was recommended to patients with a high risk of fetal aneuploidy from February 2013 to February 2014. Patients who exhibited eligibility and applied for NIPT from January 2012 to January 2013 were included in a comparison group. The rates of patients who underwent invasive testing, declined to undergo further testing, and manifested trisomies 21, 18, and 13 were compared between two groups...
October 2016: Medicine (Baltimore)
H Hu, H Liu, C Peng, T Deng, X Fu, C Chung, E Zhang, C Lu, K Zhang, Z Liang, Y Yang
OBJECTIVES: To detect trisomy 21, 18, and 13 in 190,277 clinical samples from the medical diagnostic laboratories of ten hospitals. METHODS: The study assessed the clinical performance of non-invasive prenatal testing (NIPT) in detecting trisomy 21, 18, and 13 in 190,277 clinical samples using semiconductor sequencing technology. RESULTS: NIPT participants were at a mean gestation of 17.79 weeks (range, 9-36) and age of 31.12 years (range, 18-46) at the time of testing in average...
October 13, 2016: Current Molecular Medicine
Phayvanh P Sjogren, Richard K Gurgel, Albert H Park
OBJECTIVES: To determine whether a canal wall down mastoidectomy can provide long-term benefit for children with aural stenosis. METHODS: Retrospective case series of children with congenital aural stenosis having undergone a canal wall down mastoidectomy over a twelve-year period at a tertiary children's hospital. RESULTS: Data from thirteen children who underwent a total of twenty canal wall down mastoidectomies for aural stenosis were reviewed...
November 2016: International Journal of Pediatric Otorhinolaryngology
Masashi Asai, Aimi Kinjo, Shoko Kimura, Ryotaro Mori, Takashi Kawakubo, Keiro Shirotani, Sosuke Yagishita, Kei Maruyama, Nobuhisa Iwata
Down syndrome (DS), the most common genetic disorder, is caused by trisomy 21. DS is accompanied by heart defects, hearing and vision problems, obesity, leukemia, and other conditions, including Alzheimer's disease (AD). In comparison, most cancers are rare in people with DS. Overexpression of dual specificity tyrosine-phosphorylation-regulated kinase 1A and a regulator of calcineurin 1 located on chromosome 21 leads to excessive suppression of the calcineurin-nuclear factor of activated T cells (NFAT) signaling pathway, resulting in reduced expression of a critical angiogenic factor...
2016: Biological & Pharmaceutical Bulletin
Yoshimitsu Fujii, Eriko Kanda, Masato Hirabayashi, Kenji Mine, Atsushi Ohashi, Shoji Tsuji, Kazunari Kaneko
BACKGROUND: Trisomies 13 and 18 (T13/18) are autosomal trisomy syndromes with dismal prognoses. Deciding whether to perform a chromosomal analysis for the definitive diagnosis is often difficult (even for experienced pediatricians) because representative clinical signs may not be found in all T13/18 neonates. OBJECTIVES: This study aimed to investigate any clinical signs that could be useful for screening for T13/18 in participants without the representative clinical signs traditionally found in odd-looking neonates with malformation syndromes...
August 2016: Iranian Journal of Pediatrics
Seyed Abdollah Mousavi, Hasan Karami, Hossein Saneian
INTRODUCTION: The duodenum is the most common site for congenital intestinal obstruction. The duodenal web with a central hole can present without any overt signs of obstruction at a later age. MATERIAL AND METHODS: Over a 7-year period, children with congenital intestinal obstruction were identified in this study. The complications and operative findings of patients with duodenal web with conditions such as wind sock deformity and delayed diagnosis were evaluated in this study...
October 1, 2016: Archives of Medical Science: AMS
Christopher K Ellison, Youting Sun, Grant Hogg, Jesse Fox, Helen Tao, Erin McCarthy, Bright Sagoe, Mostafa A Azab, Amin R Mazloom, John Tynan, Timothy Burcham, Sung K Kim, Dirk van den Boom, Mathias Ehrich, Taylor J Jensen
BACKGROUND: Current methods for noninvasive prenatal testing (NIPT) ascertain fetal aneuploidies using either direct counting measures of DNA fragments from specific genomic regions or relative measures of single nucleotide polymorphism frequencies. Alternatively, the ratios of paralogous sequence pairs were predicted to reflect fetal aneuploidy. We developed an NIPT assay that uses paralog sequences to enable noninvasive detection of fetal trisomy 21 (T21) and trisomy 18 (T18) using cell-free DNA (cfDNA) from maternal plasma...
September 30, 2016: Clinical Chemistry
E Jolivet, C Plavonil, M Sainte-Rose, B Schaub
OBJECTIVES: The aim of this study is to evaluate the screening for trisomy 21 (T21) between 2011 and 2013 on Martinique French West Indies after the decree of 23 June 2009. MATERIALS AND METHODS: Were used the prenatal data provided by accredited laboratories and the data from the Registry of Congenital French West Indies (REMALAN). RESULTS: A total of 85.9 % of patients underwent screening: 60.5 % on a combined calculation of risk (CRC), 14...
September 29, 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
J Weichert, M Gembicki, J Ribbat-Idel, D R Hartge
PURPOSE: To scrutinize the validity of a novel angle (maxilla-mandible-nasion angle, MMN) as objective proof of midfacial hypoplasia in trisomy 21 fetuses. MATERIALS AND METHODS: Volume data sets of 2(nd) trimester fetuses were reviewed in this retrospective study. After achievement of the correct midsagittal position, the fetal profile line (FP line) and the mandibulo-maxillary line (MML) were applied and the resulting angle was calculated. Additionally, the prefrontal space ratio (PFSR) was assessed...
May 2016: Ultrasound Int Open
E Merz, C Thode, B Eiben, S Wellek
AIM: Both previous versions of the German PRC algorithm developed by our group for routine first-trimester screening relied on the assumption that maternal blood sampling and fetal ultrasonography are performed at the same visit of a pregnant women. In this paper we present an extension of our method allowing also for constellations where this synchronization is abandoned through preponing blood sampling to dates before 11 weeks of gestation. METHODS: In contrast to the directly measured concentrations of the serum parameters PAPP-A and free ß-hCG, the logarithmically transformed values could be shown to admit the construction of reference bands covering the whole range from 16 to 84 mm CRL [corresponding to 63 to 98 days of gestation]...
March 2016: Ultrasound Int Open
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