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

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








Last Posted: Mar 09, 2017

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• Down syndrome and the complexity of genome dosage imbalance.  
  Antonarakis Stylianos E et al. Nature reviews. Genetics 2017 Mar (3) 147-163
• Key Findings: Frequency of Trisomy Conditions using Birth Defects Tracking Programs in the United States, 2006-2010 
• Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review.  
  Chen Chih-Ping et al. Taiwanese journal of obstetrics & gynecology 2016 Oct (5) 712-717
• Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review.  
  Haug Shelly et al. JAMA pediatrics 2017 Feb
• 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
• The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population.  
  Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan
• 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
• Patient Perception of Negative Noninvasive Prenatal Testing Results.  
  Wittman A Theresa et al. AJP reports 2016 Oct 6(4) e391-e406
• Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.  
  Barbaro Michela et al. Journal of clinical immunology 2016 Nov
• 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
• Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies.  
  Stokowski Renee et al. Prenatal diagnosis 2015 Dec 35(12) 1243-6
• 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
• Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I - Clinical Impact.  
  Oepkes Dick et al. Prenatal diagnosis 2016 Oct
• Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy.  
  Park Soo Yeon et al. Obstetrics & gynecology science 2016 Sep 59(5) 357-66
• Survival and Surgical Interventions for Children With Trisomy 13 and 18.  
  Nelson Katherine E et al. JAMA 2016 Jul 316(4) 420-8

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