Cell-free (cf)DNA screening of pregnancies (also known as non-invasive prenatal testing or NIPT) is a transformative technology that is becoming routine for all pregnancies. Laboratories are potentially faced with adding a new technological approach in order to add NIPT to their repertoire of assays.
Laboratories may choose from whole-genome NGS methods or more targeted methods. Furthermore, there are evolving regulatory requirements, a lack of test standardization around the world, and few validation studies targeting rare disorders. Clinical laboratory directors also need to anticipate the complexities of interpreting results from an inconclusive finding or disentangling biological considerations such as placental mosaicism from analytical performance considerations. However, NIPT is still a screening test, and thus confirmation by amniocentesis or chorionic villus sampling and diagnostic testing is required.
In this webinar, expert panelists, Jillian Buchan, PhD FACMG; Glenn Palomaki, PhD; Kaarel Krjutškov, PhD; and Russell Garlick, PhD will discuss recent experiences adopting NIPT testing for routine use, designing and executing complex validation studies, and interpreting unexpected results.
Offered Free by: LGC SeraCare Life Sciences
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