Last Posted: Feb 27, 2020
- 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.
Yotsumoto Junko et al. BMC pregnancy and childbirth 2020 Feb 20(1) 112 - 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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