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Molecular Diagnostics Ushers In New Era Of Prenatal Testing

Executive Summary

The recent launch of several noninvasive gene-based tests for Down syndrome and other fetal chromosomal abnormalities is poised to upend current prenatal screening practices and potentially usher in a new, multibillion-dollar market opportunity in the process. These new tests employ next-generation gene sequencing, along with advanced, risk-based computer algorithms, to detect and characterize fetal genetic abnormalities using the DNA present in a maternal blood sample. And because they are actually able to “interrogate” the DNA, they represent a huge technological advance over the current standard-of-care for prenatal screening.


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