20.01.2015 Views

The New Genetics: Paradigm Shifts in Prenatal Diagnosis

The New Genetics: Paradigm Shifts in Prenatal Diagnosis

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DANSR + FORTE<br />

• DANSR- Digital Analysis of Selected Regions<br />

• Chromosome selective approach: selectively evaluates specific<br />

genomic fragments from cfDNA<br />

• Determ<strong>in</strong>es fraction of fetal cfDNA <strong>in</strong> maternal plasma as well as the<br />

chromosome proportion by assay<strong>in</strong>g polymorphic and<br />

nonpolymorphic loci<br />

• FORTE- Fetal-fraction Optimized Risk of Trisomy Evaluation<br />

• Algorithm that takes <strong>in</strong>to account additional data: prior risk (based<br />

on maternal age and gestational age) as well as fetal fraction<br />

• Enables determ<strong>in</strong>ation of chromosome proportion and fetal fraction<br />

at same time<br />

• Requires less DNA sequenc<strong>in</strong>g and can analyze ~750 patient<br />

samples per run<br />

• Technique currently used by Ariosa

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