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Noninvasive prenatal testing (NIPT) has marked a revolution in aneuploidy screening because it allows a simple maternal blood test to detect Down syndrome in a fetus with a very high level of accuracy (at least 99.5% with a false-positive rate of 0.2%).
This test has been validated in a high-risk population in more than 10 clinical trials, showing an accuracy of detection for Down syndrome (trisomy 21) of 99.5% (false positive rate 0.2%), Edward syndrome (trisomy 18) of 99% and Patau syndrome (trisomy 13) of 79–92%.
There have now been five clinical trials evaluating NIPT in a population of low- and high-risk women from China, the United Kingdom and the United States.
These large trials confirm similar high detection rates and low false-positive rates for the test in a general obstetric population.
Pregnant women who elect to have NIPT can have a blood test from 10 weeks gestation.
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