Until 2011, the predominant prenatal aneuploidy screening options for trisomies 21, 18, and 13 were measurement of serum markers and sonographic evaluation of the fetus. The introduction of cell-free DNA (cfDNA) screening created a new option—noninvasive prenatal testing (NIPT)—that facilitates screening for a wider range of fetal aneuploidies. Like traditional serum screening, NIPT is a screening test and results should be confirmed by diagnostic testing prior to making pregnancy management decisions.
We have compiled the following information to consider as your lab evaluates which prenatal tests to offer, and what technology to select to carry you into the future and provide your lab with the best return on investment.
NIPT has consistently demonstrated increased detection (higher sensitivity) and higher specificity (less false positive cases) for aneuploidy than traditional screening.
Understand what cfDNA is and how it is used to provide a more accurate screening test for the detection of fetal aneuploidy.
Weigh the benefits of whole-genome sequencing vs targeted approaches in deciding what’s right for your lab.
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Explore a broad range of genotyping techniques that can provide valuable insight into the functional consequences of genetic variation.