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Down syndrome (trisomy 21) is the most common cause of mental impairment or deficiency 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 (as early as the 10th week of gestation). Our Non-Invasive Prenatal Diagnostic test for fetal trisomy 21 is based on the identification of differentially methylated fetal-specific markers and the use of those Differentially Methylated Regions (DMRs) for the discrimination between a trisomy 21 fetus and a normal fetus.
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