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Development and Validation of NIPD Trisomy 21 Test

Down syndrome (trisomy 21) is the most common cause of mental impairment with an incidence of 1:700 births. The early detection of trisomy 21 is critical for prospective parents and is an integral component of many national healthcare programs. NIPD Genetics has been successful in developing a Non-Invasive Prenatal Diagnostic (NIPD) test for the diagnosis of trisomy 21 during the early stages of pregnancy based on the identification and use of fetal-specific markers found in maternal blood. Last year, NIPD Genetics announced the findings of their blind validation study and found the refined method has the sensitivity (100%) and specificity (99.2%) necessary for prenatal diagnosis. Now, the company has recently published findings from their latest study which investigated factors that may affect test result determination. In addition to further demonstrating the robustness of their diagnostic formula, NIPD Genetics found that such factors do not significantly affect the sensitivity or specificity of the method.
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An overview of externally funded projects at the company.
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A recent list of relevant publications including abstracts.
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