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 Illumina’s accredited clinical lab. However, there may be individuals looking for information on prenatal screening that need to start with a basic genetics refresher before moving forward.
As part of Illumina's ongoing effort to provide our customers with educational support, the Reproductive and Genetic Health Genetics team developed a series of brief modules entitled, "Noninvasive Prenatal Testing: Background, science, and clinical implementation.” We are pleased to release the first two of these modules:
Module 1, entitled “Chromosomes, DNA, and Review of Aneuploidy Syndromes” discusses basic genetic concepts, including meiosis, and reviews causes and features of common aneuploidy syndromes, such as Down syndrome (trisomy 21) and Edwards syndrome (trisomy 18).
Module 2, entitled “Overview of Screening Terminology and Available Aneuploidy Testing Options” aims to provide a basic understanding of common screening terms, including sensitivity, specificity, and predictive values. In addition, this module aims to improve awareness of available prenatal screening and testing options.
These modules are designed to be watched (and re-watched) at one’s own pace. For those 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 the next installments later this spring!