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June 19, 2019

Genome-Wide NIPT for Rare Chromosomal Conditions: Technical, Biological, and Clinical Considerations

Genome Webinar

Chief Scientific Officer, TOMA Advanced Biomedical Assays, Impact Lab Group  

This webinar discusses cell-free DNA prenatal screening in the era of genome-wide sequencing and factors influencing the clinical utility of expanded noninvasive prenatal testing (NIPT) menus.

NIPT by cell-free DNA analysis is recognized as the most effective method of prenatal screening for trisomies 21, 18 and 13, but the clinical utility of NIPT for rare and uncharacterized genomic imbalances is largely unknown. In order to understand how expanding uses of this technology may impact clinical care, laboratories and clinicians must understand what type of results to expect and the biological and technical factors that may influence the accuracy of these results.

In this webinar, Dr. Francesca Romana Grati of TOMA Advanced Biomedical Assays reviews the current state of NIPT technologies as well as their expanding applications into rare and uncharacterized genomic disorders.

Dr. Grati discusses:

  • Currently available NIPT technologies
  • Differences in genome-wide and targeted NIPT
  • Biological and technical factors that influence the accuracy of NIPT results
  • The clinical impact of screening for rare and uncharacterized genomic imbalances with NIPT