At Illumina, we recognize that as genetic testing becomes more commonplace and complex, the need for education will continue to grow. Journal publications, scientific conferences, news media sources, and even social media sites share updates and information about popular test options like prenatal screening. Specific testing information regarding non-invasive prenatal testing (NIPT) and marketing materials are available through the Illumina accredited clinical lab in Redwood City, California. However, individuals looking for information on prenatal screening may need to start with a basic genetics refresher before moving forward.
As part of the ongoing effort by Illumina to provide our customers with educational support, the Reproductive and Genetic Health genetics counseling team developed a series of brief modules entitled “Noninvasive Prenatal Testing: Background, Science and Clinical Implementation.” The first two modules, “Chromosomes, DNA, and Review of Aneuploidy Syndromes” and “Overview of Screening Terminology and Available Aneuploidy Testing Options” were made available for viewing in May 2016.
We are excited to release the next two modules:
Module 3 entitled, “Clinical Implementation of Noninvasive Prenatal Testing” reviews key societal position statements pertaining to NIPT and addresses both pre- and post-test counseling considerations. Using case examples, this module reviews clinical considerations following positive and negative NIPT results, as well as clinical management following an NIPT failure.
Click here to view: https://youtu.be/P2pn-dFy3r4
Module 4 entitled, “Challenges of Noninvasive Prenatal Testing: Discordance Etiologies, Cases & Management” addresses biological reasons for discordance between NIPT results and clinical outcome, including mosaicism, co-twin demise, maternal genetic aberrations, maternal medical conditions, and copy number variation. Real case examples are used to illustrate each of these etiologies.
Click here to view: https://youtu.be/r4lc_FwLXXA
These modules can be watched (and re-watched) at one’s own pace. For reference laboratories or national laboratory partners looking for more information on NIPT for their employees, to clinicians who need a quick review of available prenatal screening options, to prospective parents interested in learning more about these topics, these modules are for YOU. Stay tuned for two additional modules later this year!