Unlike prenatal screening, which only provides an estimate of risk, prenatal diagnostic testing determines whether the fetus has especially trisomy 21. However, it requires—at least for now—an invasive test, such as an amniocentesis or CVS (placental biopsy). These techniques carry a 1% risk of causing a miscarriage.

Nowadays, a prenatal diagnostic test is most often offered following a prenatal screening indicating a high risk of chromosomal abnormalities.


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