Down syndrome ▲ https://phgkb.cdc.gov/GAPPKB/phgHome.do

https://phgkb.cdc.gov/GAPPKB/phgHome.do




Last Posted: Mar 16, 2017

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• Down syndrome and the complexity of genome dosage imbalance.  
  Antonarakis Stylianos E et al. Nature reviews. Genetics 2017 Mar 18(3) 147-163
• Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing.  
  Xu Chenming et al. Clinical chemistry 2017 Feb
• Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities.  
  Oneda Beatrice et al. European journal of obstetrics, gynecology, and reproductive biology 2016 May 20072-5
• Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies.  
  Manotaya S et al. Prenatal diagnosis 2016 Mar 36(3) 224-31
• Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal.  
  Jain Chandni V et al. Science translational medicine 2016 Nov 8(363) 363re4
• Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13.  
  Papageorghiou A T et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016 Feb 47(2) 188-93
• IONA test for first-trimester detection of trisomies 21, 18 and 13.  
  Poon L C et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016 Feb 47(2) 184-7
• "This lifetime commitment": Public conceptions of disability and noninvasive prenatal genetic screening.  
  Steinbach Rosemary J et al. American journal of medical genetics. Part A 2016 Feb 170A(2) 363-74
• Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part II - Women's Perspectives.  
  van Schendel Rachel V et al. Prenatal diagnosis 2016 Oct
• Risk factors for Down syndrome.  
  Coppedè Fabio et al. Archives of toxicology 2016 Sep
• What is Down Syndrome? 
• Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?  
  Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Nov 17(11) 897-900
• Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study.  
  Lewis Celine et al. PloS one 2016 11(4) e0153147
• Growth Charts for Children with Down Syndrome 
• Prevention and Periodontal Treatment in Down Syndrome Patients: A Systematic Review.  
  Ferreira Rafael et al. PloS one 2016 11(6) e0158339
• 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

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