The New Genetics: Paradigm Shifts in Prenatal Diagnosis
The New Genetics: Paradigm Shifts in Prenatal Diagnosis
The New Genetics: Paradigm Shifts in Prenatal Diagnosis
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NIPT<br />
• Very high specificity and sensitivity<br />
• Detection Rates<br />
• Down syndrome: >99% (0.2% FPR)<br />
• Trisomy 18: 97-100% (≤0.2% FPR)<br />
• Trisomy 13: 79-92% (1.0% FPR)<br />
* Detection rates and FPR vary slightly between labs<br />
• Results<br />
• Typically reported as “positive” or “negative”<br />
• Some labs dist<strong>in</strong>guish between results close to or distant from<br />
the cut-off<br />
• Results close to the cut-off would have less confidence<br />
• Some labs classify those results as “unclassifiable,” some<br />
would place results on a cont<strong>in</strong>uum scale<br />
• Confirmatory test<strong>in</strong>g via CVS or amniocentesis is<br />
recommended for positive results
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