



Course Videos
What are some of the causes of false positive results and how does the SNP method aid the clinician to rule out maternal sex chromosome mosaicism/abnormalities?
What are the benefits of screening for sex chromosome aneuploidies (SCAs)?
What are the benefits of screening for sex chromosome aneuploidies (SCAs)?
NIPT technology screens for sex chromosome abnormalities (SCA) such as Klinefelter syndrome and Turner syndrome. How accurate is NIPT for identifying sex chromosome abnormalities? And why is SNP testing preferred for these determinations?
How should the NT (nuchal translucency) scan and first trimester ultrasound be integrated with NIPT for aneuploidy screening? Why should NIPT screening be part of virtually every prenatal screening program?
How does NIPT differ from traditional aneuploidy screening using maternal serum hormone levels? Using a combination of maternal serum hormone levels/biochemistry and ultrasound markers?
In what ways has a recent practice recommendation from the American Council for Medical Genetics (ACMG) forced us to rethink, and expand upon, prenatal patient populations who are ideal candidates for cell-free fetal DNA testing?
Will non-invasive, SNP-based prenatal screening (NIPT) eventually be used by lower risk patient subgroups, and if so why? What is the perspective of professional agencies on the use of cell-free fetal DNA testing?
How does non-invasive prenatal screening (NIPT) using cell-free fetal DNA integrate into the current paradigms for screening and diagnostic testing for aneuploidy?
What is the rationale for deploying SNP-based NIPT in larger swaths of the population, especially in lower risk populations? Do studies economic and clinical studies suggest there is value using these tests in low risk patients?
What are the ethics—on a societal and individual level—of NIPT screening, and why is it critical that we screen for these fetal abnormalities?
Why is the SNP-based approach preferred for screening for microdeletions?
Why is the SNP-based approach preferred for screening for microdeletions?
How does the incidence of 22q11.2 deletion compare with Down syndrome in terms of incidence at various maternal ages? What is the rationale for screening for this deletion?