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מאמרים ומחקרים 2017-07-13T11:27:44+03:00

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Garfield S.S. Clinical and Cost Consequences of Incorporating a Novel Non-Invasive Prenatal Test into the Diagnostic Pathway for Fetal Trisomies. Journal of Managed Care. 2012;15:34-41 Read more…

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Chitty LS, et al. Detection of DiGeorge and Cri du Chat Syndrome Deletions from Maternal Plasma by Deep Sequencing Cell Free DNA (cfDNA). Download Document…

Bianchi De, et al. for the CARE Study Group. DNA Sequencing versus Standard Prenatal Aneuploidy Screening. The New England Journal of Medicine 370;9: 799-808. Download Document…

Futch T, et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenatal Diagnosis 2013;33:1–6

Bianchi Dw. et al. Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing. Obstetrics and Gynecology 2012;119:890-901. April 26, 2011 – ClinicalChemistry .Read more…

McCullough RM, et al., Non-Invasive Prenatal Chromosomal Aneuploidy Testing – Clinical Experience: 100,000 Clinical Samples. PLoS ONE 2014 9(10): e109173

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Bianchi DW, et al. NIPT for Sex Chromosome Aneuploidy: Initial Clinical Laboratory Experience and Biologic Reasons for Discordant Results, Download Document…

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Norton ME et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 doi:10.1016/j.ajog.2012.05.021

Sehnert A. et al. Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood. Clinical Chemistry 2011;57: 1042–1049. Read more….

Pergament E, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014 Aug;123(2 Pt 1):210-8

Rava R, et al. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clinical Chemistry. 2014 Jan;60(1):243-50

Greene MF, Phimister EG. Screening for Trisomies in Circulating DNA. The New England Journal of Medicine 370;9: 874-875. Download Document…

Srinivasan et al. Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma. The American Journal of Human Genetics 92, 167–176, February 7, 2013

Yaron Y. The implications of non-invasive prenatal testing failures: a review of an under-discussed phenomenon. Prenat Diagn. 2016 May;36(5):391-6.

Fosler et al. Aneuploidy Screening Using Noninvasive Prenatal Testing in Twin Pregnancies. Ultrasound Obstet Gynecol. 2017 Apr;49(4):470-477

Gil et al. Analysis of Cell-Free DNA in Maternal Blood in Screening For Aneuploidies: Updated Meta-Analysis. Ultrasound Obstet Gynecol. 2017 Apr 11. doi: 10.1002/uog.17484

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