If you have worried about having a baby with Downs, or you know someone with a Downs baby. Put another way: Down Syndrome occurs in about 1 in 1,000 births. (Note that other abnormalities screened by the test have different error rates.) At the given rates, that means there were around 2,250 cases of Downs that were undetected, and 250 false positives. Those numbers may sound small, but according to Sequenom, MaterniT21 has performed over 250,000 tests. 1% false positive rate, so 1 in 1,000 parents who receive a positive result for Downs Syndrome actually have a healthy baby. False positive rate: MaterniT21 claims a.
Detection rate: MaterniT21 claims a 99.1% sensitivity (detection rate) for Down Syndrome, meaning 9 in 1,000 cases of Downs will be undetected those parents will receive a negative result, yet have a Downs baby.The "CSI Effect" leads us to believe that DNA never lies, and accuracy rates of ">99%" sound almost perfect: but there's still room for errors, and they do occur. Devastated when MaterniT21 reported a positive result for Edwards syndrome, Stacie Chapman considered termination because she believed the test was conclusive a diagostic test revealed her baby boy was, in fact, healthy.
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