Peter Benn PhD, DS
Professor
Department of Genetics and Genome Sciences
University of Connecticut Health Center
Farmington, CT
Professor
Department of Genetics and Genome Sciences
University of Connecticut Health Center
Farmington, CT
Related Videos
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?
What are the advantages of SNP-based technology compared with the counting method when utilizing cell-free DNA to identify women at increased risk to be carrying a fetus with a microdeletion syndrome such as 22q11.1? Which test has the most robust data?
What are microdeletions and what is the rationale for offering screening for these conditions using NIPT? Especially to detect for with a microdeletion syndrome such as 22q11.1?
Do companies that provide NIPT tests also report results of uncertain significance? What are the clinical implications of this?
How does each of the NIPT testing products meet the laboratory guidelines for NIPT set forth by ACMG and ACOG/SMFM, especially reporting guidelines such as PPV and NPV? Are reports from any particular company consistent with the recently ...
Which of the NIPT reports—SNP tests, by specific laboratories—are known to have the advantage of having high positive predictive values (PPV)?