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Most pregnant women will have at least one ultrasound scan during her pregnancy.Typically speaking, the OB/GYN will order one around the middle of the second trimester, usually between weeks 16 to 20, to check the baby's measurements and screen for any problems.

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Of these, roughly three out of four will be detected by ultrasound.Screening for Down syndrome by a combination of maternal age and thickness of nuchal translucency in the fetus at 11–14 weeks of gestation was introduced in the 1990s.This method identifies about 75% of affected fetuses while screening about 5% of pregnancies.Until recently, the only reliable ways to determine if the fetus has a chromosomal abnormality was to have an invasive test such as amniocentesis or chorionic villus sampling, but such tests carry a risk of causing a miscarriage estimated variously as ranging between 1% Most women, especially those with a low risk of having a child with Down syndrome, may wish to avoid the risk to the fetus and the discomfort of invasive testing.In 2011, Sequenom announced the launch of Materni T21, a non-invasive blood test with a high level of accuracy in detecting Down syndrome (and a handful of other chromosomal abnormalities).