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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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65 hot topic(s) found with the query "Down syndrome"

A randomized controlled trial of an online health tool about Down syndrome
J Chung et al, Genetics in Medicine, September 3, 2020 (Posted: Sep-03-2020 8AM)

We sought to determine if a novel online health tool, called Down Syndrome Clinic to You (DSC2U), could improve adherence to national Down syndrome (DS) guidelines. In a national, randomized controlled trial of 230 caregivers who had children or dependents with DS without access to a DS specialist, 117 were randomized to receive DSC2U and 113 to receive usual care.

Down Syndrome
MJ Bull, NEJM, June 10, 2020 (Posted: Jun-11-2020 8AM)

There is considerable phenotypic variation among patients, and intellectual disability is most commonly moderate but ranges from mild to severe, whereas social function is often high relative to the cognitive impairment. There are also differences in the incidence and presentation of DS according to ethnic background and geographic region.

Down syndrome.
Antonarakis Stylianos E et al. Nature reviews. Disease primers 2020 Feb (1) 9 (Posted: Feb-27-2020 7AM)

Since the first description of trisomy 21, we have learned much about intellectual disability and genetic risk factors for congenital heart disease. Clinical trials to ameliorate intellectual disability in DS signal a new era in which therapeutic interventions based on knowledge of the molecular pathophysiology of DS can now be explored.

Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises.
Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan (Posted: Jan-15-2020 8AM)

Translating translation in Down syndrome
M Halliday et al, Science, November 2019 (Posted: Nov-16-2019 7AM)

Exploring the risk of ALL in children with Down syndrome
Science Daily, September 24, 2019 (Posted: Sep-26-2019 8AM)

Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial
C Mircher et al, Genetics in Medicine, July 9, 2019 (Posted: Jul-09-2019 10AM)

The purpose of the study is to determine whether folinic acid and thyroxine, in combination or alone, benefit psychomotor development in young patients with Down syndrome. The trial was a single-center, randomized, double-blind, placebo-controlled phase 3 trial in DS infants aged 6?18 months. The study did not support the hypotheses that thyroxine and/or folinic acid improve development of young children with DS

Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study.
Rousseau François et al. European journal of human genetics : EJHG 2019 Jun (Posted: Jun-25-2019 0PM)

The study compared clinical validity of two non-invasive prenatal screening (NIPS) methods for fetal trisomies 13, 18, 21, and monosomy X. We recruited prospectively 2203 women at high risk of fetal aneuploidy and 1807 at baseline risk. Both sequencing platforms showed equivalent and excellent clinical validity

A bit too much Olig2 in DownÂ’s syndrome
M Yang, Sci Trans Med June 5, 2019 (Posted: Jun-06-2019 11AM)

Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology Assessment.
et al. Ontario health technology assessment series 2019 19(4) 1-166 (Posted: Mar-12-2019 11AM)

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Pierpont Mary Ella et al. Circulation 2018 Nov (21) e653-e711 (Posted: Feb-04-2019 1PM)

What is Down Syndrome?
CDC, October 2018 Brand (Posted: Oct-04-2018 9AM)

New supplemental awards boost NIH funding for research on Down syndrome
NIH, October 1, 2018 Brand (Posted: Oct-01-2018 0PM)

Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial.
Malan Valérie et al. JAMA 2018 Aug 320(6) 557-565 (Posted: Aug-22-2018 11AM)

The INCLUDE Project Research Plan- (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndrome)
Brand (Posted: Jun-21-2018 8AM)

Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing
GE Palomaki et al, Genetics in Medicine, Apr 26, 2018 (Posted: Apr-28-2018 8AM)

World Down Syndrome Day: 21 Things You May Not Know About Down Syndrome
Family blog post, Mar 21, 2018 (Posted: Mar-21-2018 5PM)

Have we done our last amniocentesis? Updates on cell-free DNA for Down syndrome screening.
Gray Kathryn J et al. Pediatric radiology 2018 Apr 48(4) 461-470 (Posted: Mar-21-2018 5PM)

Why We Screen for Down Syndrome Anyway
Genome Magazine, Jan 2018 (Posted: Feb-19-2018 1PM)

Research matters: How a brother with Down syndrome inspired a PhD in tuberculosis and an ardor for science communication
M Wright, PLOS Pathogens, Feb 8, 2018 (Posted: Feb-08-2018 6PM)

Prenatal diagnosis and socioeconomic status in the non-invasive prenatal testing era: A population-based study.
Hui Lisa et al. The Australian & New Zealand journal of obstetrics & gynaecology 2018 Jan (Posted: Jan-31-2018 9AM)

New DNA antenatal screening for Down's syndrome shown to be a 'transformational advance'
Science Daily, Nov 8, 2017 (Posted: Nov-11-2017 0PM)

Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing.
Qiang Rong et al. Experimental and therapeutic medicine 2017 May 13(5) 2304-2310 (Posted: Oct-04-2017 10AM)

Down syndrome and the complexity of genome dosage imbalance.
Antonarakis Stylianos E et al. Nature reviews. Genetics 2017 Mar (3) 147-163 (Posted: Mar-09-2017 2PM)

Risk factors for Down syndrome.
Coppedè Fabio et al. Archives of toxicology 2016 Sep (Posted: Oct-03-2016 10AM)

What is Down Syndrome?
Brand (Posted: Oct-03-2016 10AM)

Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome.
Santoro Stephanie L et al. The Journal of pediatrics 2016 Apr 171262-8.e1-2 (Posted: Aug-17-2016 9AM)

Growth Charts for Children with Down Syndrome
Brand (Posted: Aug-13-2016 9AM)

Prevention and Periodontal Treatment in Down Syndrome Patients: A Systematic Review.
Ferreira Rafael et al. PloS one 2016 (6) e0158339 (Posted: Aug-13-2016 9AM)

Scientists Have Pinpointed the Gene Responsible for Down Syndrome
Futurism, August 11, 2016 (Posted: Aug-13-2016 9AM)

Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
Gerundino Francesca et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 May 1-7 (Posted: Jun-01-2016 0PM)

Difficult Decisions: Prenatal genetic testing spurs laws to provide information during pregnancy on Down syndrome
A Caplan, Genome Magazine, Spring 2016 (Posted: Apr-05-2016 6PM)

Retrospective Study of Obesity in Children with Down Syndrome.
Basil Janet S et al. The Journal of pediatrics 2016 Mar (Posted: Mar-22-2016 8AM)

World Down Syndrome Day
Caleb' story Brand (Posted: Mar-22-2016 8AM)

Practice Bulletin No. 163: Screening for Fetal Aneuploidy.
et al. Obstetrics and gynecology 2016 Mar (Posted: Mar-09-2016 9AM)

Novel Epigenetic Markers on Chromosome 21 for Noninvasive Prenatal Testing of Fetal Trisomy 21.
Lee Da Eun et al. The Journal of molecular diagnostics : JMD 2016 Mar (Posted: Mar-09-2016 8AM)

Prenatal Diagnosis of Trisomy 21, 18 and 13 by Quantitative Pyrosequencing of Segmental Duplications.
Tong Huan et al. Clinical genetics 2016 Mar (Posted: Mar-09-2016 8AM)

Overview of the impact of noninvasive prenatal testing on diagnostic procedures.
Warsof Steven L et al. Prenatal diagnosis 2015 Oct (10) 972-9 (Posted: Jan-08-2016 0PM)

Key Findings: Growth Charts for Children with Down Syndrome in the United States
Brand (Posted: Oct-30-2015 1PM)

New Perspectives for the Rescue of Cognitive Disability in Down Syndrome.
Bartesaghi Renata et al. The Journal of neuroscience : the official journal of the Society for Neuroscience 2015 Oct (41) 13843-52 (Posted: Oct-29-2015 8PM)

Timing of therapies for Down syndrome: the sooner, the better.
Stagni Fiorenza et al. Frontiers in behavioral neuroscience 2015 265 (Posted: Oct-29-2015 8PM)

Learn more about Down syndrome and about Keaton, a boy with Down syndrome
Brand (Posted: Oct-08-2015 11AM)

Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan.
Leiva Portocarrero Maria Esther et al. BMC medical informatics and decision making 15(1) 76 (Posted: Sep-30-2015 2PM)

Informed choice about Down syndrome screening - Effect of an eHealth tool: A randomized controlled trial.
Skjøth Mette Maria et al. Acta Obstet Gynecol Scand 2015 Aug 31. (Posted: Sep-09-2015 11AM)

Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience.
Zhou Qiyin et al. Prenat. Diagn. 2014 Nov 34(11) 1061-5 (Posted: Sep-02-2015 1PM)

An update on current prenatal testing options: first trimester and noninvasive prenatal testing.
Latendresse Gwen et al. J Midwifery Womens Health 2015 Jan (1) 24-36 (Posted: Sep-02-2015 1PM)

MicroRNAs as potential biomarkers for noninvasive detection of fetal trisomy 21.
Lim Ji Hyae et al. J. Assist. Reprod. Genet. 2015 Mar 8. (Posted: Sep-02-2015 1PM)

DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide.
Peprah Emmanuel K et al. Glob Heart 2015 Aug 11. (Posted: Aug-19-2015 0PM)

Genome-wide microRNA expression profiling in placentas of fetuses with Down syndrome.
Lim J H et al. Placenta 2015 Mar (3) 322-8 (Posted: Aug-17-2015 2PM)

National down syndrome patient database: Insights from the development of a multi-center registry study.
Lavigne Jenifer et al. Am. J. Med. Genet. A 2015 Aug 6. (Posted: Aug-17-2015 2PM)

Information and knowledge about Down syndrome among women and partners after first trimester combined testing.
Ternby Ellen et al. Acta Obstet Gynecol Scand 2015 Mar (3) 329-32 (Posted: Aug-17-2015 2PM)

Children with down syndrome are high-risk for severe respiratory syncytial virus disease.
Stagliano David R et al. J. Pediatr. 2015 Mar (3) 703-709.e2 (Posted: Aug-17-2015 2PM)

Enhancing oral and written language for adolescents and young adults with down syndrome.
Pelatti Christina Yeager et al. Semin Speech Lang 2015 Feb (1) 50-9 (Posted: Aug-17-2015 2PM)

Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.
Sun RongRong et al. Cell Biochem. Biophys. 2015 Feb 1. (Posted: Aug-17-2015 2PM)

Sleep-disordered breathing in Down syndrome.
Lal Chitra et al. Chest 2015 Feb (2) 570-9 (Posted: Aug-17-2015 2PM)

Screening for Hypothyroidism in Down Syndrome Using the Capillary Thyroid Stimulating Hormone Method.
McGowan Sheena et al. J. Pediatr. 2015 Jan 31. (Posted: Aug-17-2015 2PM)

Incidence of febrile seizure in patients with Down syndrome.
Shimakawa Shuichi et al. Pediatr Int 2015 Feb 13. (Posted: Aug-17-2015 2PM)

Accelerated epigenetic aging in Down syndrome.
Horvath Steve et al. Aging Cell 2015 Feb 9. (Posted: Aug-17-2015 2PM)

NIPT-based screening for Down syndrome and beyond: what do pregnant women think?
van Schendel Rachèl V et al. Prenat. Diagn. 2015 Feb 19. (Posted: Aug-17-2015 2PM)

A genomic approach to study down syndrome and cancer inverse comorbidity: untangling the chromosome 21.
Forés-Martos Jaume et al. Front Physiol 2015 10 (Posted: Aug-17-2015 2PM)

Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes.
Mersy Elke et al. Public Health Genomics 2015 Jul 18. (Posted: Jul-29-2015 10AM)

Use of the Combined First-Trimester Screen in High- and Low-Risk Patient Populations After Introduction of Noninvasive Prenatal Testing.
Larion Sebastian et al. J Ultrasound Med 2015 Aug 34(8) 1423-8 (Posted: Jul-29-2015 10AM)

Test for Down Syndrome Called 'Major Advance'
But it won't eliminate need for invasive diagnostics such as amniocentesis, doctors say, WebMD, April 2015 (Posted: Apr-04-2015 6PM)

CDC information: Facts About Down Syndrome
Brand (Posted: Feb-25-2015 0PM)

CDC Information on World Down Syndrome Day: Raising Awareness
Brand (Posted: Feb-25-2015 0PM)

Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.