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DNA Today: A Genetics Podcast cover image

#224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne

DNA Today: A Genetics Podcast

NOTE

Enhanced Sensitivity of Carrier Screening with Reflex Single Gene and NIPT

The sensitivity of carrier screening with reflex single gene and NIPT is significantly high at 93.3%, surpassing the traditional carrier screening method. Even with 100% compliance in traditional carrier screening, due to misattributed paternity rates, more affected pregnancies are missed compared to the new workflow. Additionally, almost half of paternal samples remain untested in traditional carrier screening when the mother is a carrier, resulting in only one-third of affected cases being detected. This new screening workflow boosts sensitivity from 30% to over 90%, a substantial improvement in detecting disorders compared to traditional methods.

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