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 FUTURE DIRECTIONS<br />
• Additional validation studies on use <strong>in</strong> low -risk<br />
population and multiple gestations<br />
• Other chromosomal disorders and<br />
microdeletions/duplications<br />
• Use for Mendelian disorders<br />
• <strong>New</strong> technology may <strong>in</strong>crease accuracy<br />
• MeDiP: enriches for fetal-specific hypermethylated DNA<br />
regions<br />
• Whole genome sequenc<strong>in</strong>g<br />
• With<strong>in</strong> the next 10 years, the complete fetal genome<br />
will be successfully sequenced from maternal plasma<br />
Lo (Prenat Diagn 2010;30:702-3)
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