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Down Syndrome Screening

Chao Zhao, Lin Zhu, Ruijin Li, Hailin Wang, Zongwei Cai
Exposure to airborne particulate matter (PM) 2.5 induced various adverse health effects, such as metabolic syndrome, systemic inflammation and respiratory infection. However, a global influence of PM2.5 -induced metabolic and proteomic disorders remains confusing, and the underlying mechanism is still under-explored. Herein, LC-MS/MS-based metabolomics, lipidomics and isobaric tags for relative and absolute quantification (iTRAQ)-based proteomics were applied to analyze the toxicological characteristics of PM2...
December 1, 2018: Environmental Pollution
Xiaosong Yuan, Wei Long, Jianbing Liu, Bin Zhang, Wenbai Zhou, Jian Jiang, Huiyan Wang, Bin Yu
BACKGROUND: We examined the associations between Down's serum screening analytes and pregnancy outcomes in Chinese women. METHODS: A retrospective cohort study of 2470 pregnant women was conducted. Maternal serum triple tests (AFP, fβ-hCG, uE3), maternal characteristics and pregnancy outcomes were recorded from our prenatal screening and hospitalization information system, respectively. RESULTS: The elevated concentration of uE3 in the early-second trimester was associated with increased risk of LGA infants and macrosomia, decreased risk of PE and small SGA infants (for LGA: OR: 1...
December 6, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Bi Jiang, Jianxin Liu, Weichao He, Sisi Wei, Yanmei Hu, Xinjian Zhang
OBJECTIVE: To evaluate the effect of preconception examinations programs on the prevention of birth defects in Dongguan City during 2013-2017. METHODS: The data were from preconception examinations system and the birth defects surveillance system during 2013-2017. The study population included 63 175 infants born to mothers accepted preconception examinations during pregnancy (the screening group) and 649 862 infants whose mother did not check (the control group)...
December 6, 2018: Journal of Maternal-fetal & Neonatal Medicine
Glenn E Palomaki, Edward M Kloza
PURPOSE: We systematically reviewed the published literature on test failure rates for the sequencing of cell-free DNA (cfDNA) in maternal plasma to identify Down syndrome. METHODS: We searched peer-reviewed English publications with diagnostic results on all pregnancies that provided test failure rates. Data on the odds of failure in Down syndrome and euploid pregnancies and the impact of repeat testing were extracted. Random-effects modeling was then used to identify moderators that could explain variability...
November 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Lisa Hui
The field of prenatal screening and diagnosis has undergone enormous progress over the past four decades. Most of this period has been characterized by gradual improvements in the technical and public health aspects of prenatal screening for Down syndrome. Compared to the direct analysis of fetal cells from amniocentesis or chorionic villus sampling, noninvasive approaches using maternal blood or ultrasound have the great advantage of posing no risk of miscarriage to the pregnancy. Recent advances in molecular genetics and DNA sequencing have revolutionized both the accuracy and the range of noninvasive testing for genetic abnormalities using cell-free DNA in maternal plasma...
2019: Methods in Molecular Biology
Rachel Joseph, Emily B DiCesare, Amy Miller
BACKGROUND: Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a lysosomal storage disease that affects the breakdown of sugar in the body. Research has made it possible to reveal the cause of the disease, thus helping diagnose and treating this rare disorder. Enzyme replacement therapy will help children live longer and healthier lives. PURPOSE: The purpose of this literature review is to explore the existing knowledge on MPS II and to inform the nursing community about the prevalence of MPS II and examine why it is important to offer screening to parents of a newborn or child...
December 2018: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
Yong Wang, Yun-Sheng Cheng, Xiao-Qiang Yin, Gang Yu, Ben-Li Jia
Insulin resistance (IR) continues to pose a major threat to public health due to its role in the pathogenesis of metabolic syndrome, and its ever-increasing prevalence on a global scale. The aim of the current study was to investigate the efficacy of Anxa2 in obesity-induced IR through the mediation of the NF-кB signaling pathway. Microarray analysis was performed to screen differentially expressed genes associated with obesity. To verify whether Anxa2 was differentially expressed in IR triggered by obesity, IR mice models were established in connection with a high-fat diet (HFD)...
November 21, 2018: American Journal of Physiology. Cell Physiology
Bing Feng, William Hoskins, Yan Zhang, Zibo Meng, David C Samuels, Jiandong Wang, Ruofan Xia, Chao Liu, Jijun Tang, Yan Guo
BACKGROUND: Human Down syndrome (DS) is usually caused by genomic micro-duplications and dosage imbalances of human chromosome 21. It is associated with many genomic and phenotype abnormalities. Even though human DS occurs about 1 per 1,000 births worldwide, which is a very high rate, researchers haven't found any effective method to cure DS. Currently, the most efficient ways of human DS prevention are screening and early detection. METHODS: In this study, we used deep learning techniques and analyzed a set of Illumina genotyping array data...
November 20, 2018: BMC Medical Genomics
Helena J Teede, Marie L Misso, Jacqueline A Boyle, Rhonda M Garad, Veryan McAllister, Linda Downes, Melanie Gibson, Roger J Hart, Luk Rombauts, Lisa Moran, Anuja Dokras, Joop Laven, Terhi Piltonen, Raymond J Rodgers, Mala Thondan, Michael F Costello, Robert J Norman
We have developed the first international evidence-based guideline for the diagnosis and management of polycystic ovary syndrome (PCOS), with an integrated translation program incorporating resources for health professionals and consumers. The development process involved an extensive Australian-led international and multidisciplinary collaboration of health professionals and consumers over 2 years. The guideline is approved by the National Health and Medical Research Council and aims to support both health professionals and women with PCOS in improving care, health outcomes and quality of life...
October 1, 2018: Medical Journal of Australia
Antonín Šípek, Vladimír Gregor, Antonín Šípek
The main goal of this study was to analyse the spectrum of chromosomal aberrations that were diagnosed during prenatal diagnostics in the Czech Republic in 2016. We present a retrospective epidemiological analysis that is based on the official data from the National Registry of Congenital Anomalies that is run by the Institute of Health Information and Statistics of the Czech Republic. Additional data were obtained actively from the departments of medical genetics and prenatal diagnostics under the guidance of the Czech Society of Medical Genetics and Genomics...
2018: Casopís Lékar̆ů C̆eských
Gilles Kayem, Alexandra Doloy, Thomas Schmitz, Yvon Chitrit, Philippe Bouhanna, Bruno Carbonne, Jean Marie Jouannic, Laurent Mandelbrot, Alexandra Benachi, Elie Azria, Francoise Maillard, Florence Fenollar, Claire Poyart, Cécile Bebear, François Goffinet
OBJECTIVE: To assess whether antibiotics used for treatment in asymptomatic second-trimester women positive for Mycoplasma or Ureaplasma spp. detected by amniotic-fluid PCR prevents preterm delivery. DESIGN: A randomized, double-blind, placebo-controlled trial. SETTING: 10 maternal fetal medicine centers in France. POPULATION: Women with a singleton pregnancy who underwent amniocentesis between 16 and 20 weeks' gestation (weeks) for Down syndrome screening...
2018: PloS One
R Shah, S V Brodsky, L Hebert, B H Rovin, T Nadasdy, A A Satoskar
Antiphospholipid antibody syndrome (APS) is an acquired prothrombotic autoimmune disease caused by the presence of antibodies against anionic phospholipids or plasma proteins bound to phospholipids on cell membranes. It can be a primary disease or secondary to other autoimmune diseases, most commonly systemic lupus erythematosus (SLE). Laboratory testing for antiphospholipid antibodies (aPL) may be only transiently positive, so APS could be missed until a catastrophic thrombotic episode or pregnancy morbidity occurs...
November 7, 2018: Lupus
Anne Møller, Ida Vogel, Olav Bjørn Petersen, Stina Lou
Objective: The aim of the study was to determine sonographers' experiences with the introduction of an offer of noninvasive prenatal testing (NIPT) to a new moderate-risk (MR) group at the combined first-trimester prenatal screening (cFTS). Study Design: A qualitative approach consisting of seven semistructured interviews with five sonographers (midwives and nurses). Data was analyzed using thematic analysis. Main Outcome Measures: Sonographers' perception of offering NIPT to women in MR...
2018: Journal of Pregnancy
Chonthicha Tana, Chanane Wanapirak, Supatra Sirichotiyakul, Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Ratanaporn Sekararithi, Theera Tongsong
OBJECTIVES: To compare the performance of second trimester maternal serum screen (MSS) for fetal Down syndrome in Thai population between the conventional method using Caucasian reference ranges with ethnic factor correction (CRR-EC) and the method using specific Thai reference ranges (TRRs). METHODS: A prospective database of the MSS project was accessed. The concentrations of alpha fetoprotein (AFP), beta-hCG, and uE3 were converted to their multiple of medians (MoMs) by two methods; CRR-EC for Asian women and TRR...
October 29, 2018: Journal of Maternal-fetal & Neonatal Medicine
Weerawich Pornwattanakrilert, Ratanaporn Sekararithi, Chanane Wanapirak, Supatra Sirichotiyakul, Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Theera Tongsong
OBJECTIVE: To examine the relationship between the first-trimester serum biomarker levels (pregnancy-associated plasma protein A:PAPP-A; and free beta-human chorionic gonadotropin: b-hCG) and preterm birth; and to create the predictive models for preterm birth in case of strong correlation. METHODS: Secondary analysis on a large prospective database of singleton pregnancies undergoing first-trimester serum screening with complete follow-up for pregnancy outcomes...
October 29, 2018: Journal of Maternal-fetal & Neonatal Medicine
Nicholas J Wald, Jonathan Bestwick, Wayne Huttly, Jonathan Aldis, Antoni Borrell, Sandy Goodburn, Ian Mills
OBJECTIVE: To determine whether assumptions used in prenatal screening for Down syndrome in twin pregnancies are valid, and derive estimates of risk and screening performance in twin pregnancies using observed data. METHODS: Data were collected on nuchal translucency, chorionicity, pregnancy associated plasma protein-A (PAPP-A) and free ß human chorionic gonadotrophin (free ß-hCG) from 61 twin pregnancies with Down syndrome and 7,302 unaffected twin pregnancies...
October 26, 2018: Prenatal Diagnosis
Sandra Giménez, Laura Videla, Sergio Romero, Bessy Benejam, Susana Clos, Susana Fernández, Maribel Martínez, Maria Carmona-Iragui, Rosa M Antonijoan, Mercedes Mayos, Ana Fortuna, Patricia Peñacoba, Vicente Plaza, Ricardo S Osorio, Ram A Sharma, Ignasi Bardés, Anne-Sophie Rebillat, Alberto Lleó, Rafael Blesa, Sebastian Videla, Juan Fortea
STUDY OBJECTIVES: Sleep problems are often undetected in adults with Down syndrome (DS). Our objective was to determine the prevalence of sleep disorders in adults with DS through self-reported and objective sleep measures. METHODS: We performed a community-based cross-sectional study of 54 adults with DS not referred for sleep disorders. Two polysomnography (PSG) sleep studies were performed. Sleep quality was evaluated using the Pittsburgh Sleep Quality Index (PSQI); daytime sleepiness was evaluated using the Epworth Sleepiness Scale (ESS) and the risk for the sleep apnea syndrome (OSA) was identified using the Berlin Questionnaire (BQ)...
October 15, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
Tianqiao Yong, Shaodan Chen, Danling Liang, Dan Zuo, Xue Diao, Chenling Deng, Yuning Wu, Huiping Hu, Yizhen Xie, Diling Chen
Inonotus obliquus is an edible mushroom and also a remedy against various diseases, especially metabolic syndrome. In this paper we report the actions of an ethanol extract of I. obliquus (IOE) against hyperuricemia in hyperuricemic mice, and the screen of bioactives. The extract (IOE) was prepared by extracting I. obliquus at 65 °C with ethanol, and characterized by HPLC. IOE at low, middle, and high doses reduced serum uric acid (SUA) of hyperuricemic mice (353 μmol/L) to 215, 174, and 152 μmol/L ( p < 0...
October 18, 2018: International Journal of Molecular Sciences
Marco Zaffanello, Franco Antoniazzi, Laura Tenero, Luana Nosetti, Michele Piazza, Giorgio Piacentini
Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. In children with genetic diseases, the clinical symptoms of OSAS are often slight or absent, and related morbidities are usually more severe and can be observed at any age...
September 2018: Annals of Translational Medicine
Ryne Simpson, Anthony A Oyekan, Zarmina Ehsan, David G Ingram
For individuals with Down syndrome (DS), obstructive sleep apnea (OSA) is a complex disorder with significant clinical consequences. OSA is seen frequently in DS, and when present, it tends to be more severe. This increased prevalence is likely related to common anatomic abnormalities and a greater risk of additional comorbidities such as hypotonia and obesity. Because signs and symptoms do not often correlate with disease, all children and adults with DS should receive routine screening for OSA. Similar to the general population, polysomnography remains the gold standard for diagnosis...
2018: Nature and Science of Sleep
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