Down syndrome. Antonarakis Stylianos E et al. Nature reviews. Disease primers 2020 Feb (1) 9

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Last Posted: Feb 27, 2020

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• Down syndrome.
  Antonarakis Stylianos E et al. Nature reviews. Disease primers 2020 Feb (1) 9
• Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing.
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• Utilization of archived neonatal dried blood spots for genome-wide genotyping.
  Sok Pagna et al. PloS one 2020 15(2) e0229352
• Clinical application of a contingent screening strategy for trisomies with cell-free DNA: a pilot study.
  Sánchez-Durán María Ángeles et al. BMC pregnancy and childbirth 2019 Aug 19(1) 274
• Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.
  El Khattabi L Allach et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2019 Aug 54(2) 246-254
• 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
• A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
  Chai Hongyan et al. Frontiers in genetics 2019 101162
• Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.
  Paz-Y-Miño César et al. Molecular genetics & genomic medicine 2019 Dec e1087
• Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis.
  Zhang Wei et al. PloS one 2019 14(12) e0225281
• Translating translation in Down syndrome
  M Halliday et al, Science, November 2019

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