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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. NIPD Genetics has announced the findings of their most recent validation study which describes the company’s re-evaluation and improvements to the method as well as a blind validation study which tested a cohort of 175 pregnant women and found the refined method has the sensitivity (100%) and specificity (99.2%) necessary for prenatal diagnosis.
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