



Course Videos
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)?
What are the clinical implications of the reporting differences?
What are the clinical implications of the reporting differences?
Can you explain reporting and other differences between the various commercially available NIPT products?
How do the sensitivities and false positive rates for aneuploidy and gender—the improved PPV for SNP in sex chromosome abnormalities, in particular—compare for the various methodologies?
From a clinical, NIPT perspective, what unique advantages and what precision-focused capabilities can be ascribed to SNP technology and its targeted approach to fetal abnormalities?
Can you go into detail with the SNP (single nucleotide polymorphism)-based testing method and describe its methodology?
How do the two methods, generally described as the traditional first generation “counting method” and the second generation “SNP (single nucleotide polymorphism)-based testing” differ from one another? Let’s start with the counting method first.
Can you characterize the different laboratory techniques used to amplify cell-free DNA to determine the likelihood that the fetus has one of the common chromosome abnormalities?