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January 25, 2021

Trends from over 85,000 genome-wide cell-free DNA tests

Analyzes testing trends from when genome-wide cfDNA analysis became available: assay version 4 (AV4) to assay version 5 (AV5). 
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January 1, 2015

Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing

Clinical experience study with microdeletions • Positive predictive value (PPV) of microdeletions ranged from 60-100% • PPV for 22q11.2 deletion = 96.9-100% • False positive rate was 0.0017% • False negative rate and sensitivity could not be conclusively determined with this study
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March 1, 2018

Shifting Paradigms: Twin Gestations in the Age of Cell-Free DNA

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November 1, 2019

Genetic evaluation following MUTYH analysis for European founder variants is critical to identify at-risk patients: a laboratory’s experience

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April 1, 2019

Diagnosing Angelman and Prader-Willi Syndromes Prenatally: DNA Methylation Outcomes Following Varied Initial Indications

Read more »
June 1, 2021

The long and short of it; NIPT detection of CNVs 7Mb

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March 1, 2017

Lessons From the Placental Trophoblast: NIPT Detection of Pallister-Killian Mosaic Syndrome

Read more »
November 1, 2018

Exploring Positive Diagnostic Results after Receiving “Aneuploidy Suspected” Screen Results via Non-Invasive Prenatal Screening

Read more »
March 1, 2018

Updated Clinical Laboratory Experience: Over 50,000 Average Risk cfDNA Tests

Read more »
October 31, 2020

Clinical utilization of a cfDNA expanded content ‘reflex’ pathway: A case series

Read more »

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