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The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...
Other screening tests, such as the Quad test, can also have false positives and false negatives. Even when the Quad results are positive (or, to be more precise, when the Quad test yields a score that shows at least a 1 in 270 risk of abnormality), usually the pregnancy is normal, but additional diagnostic tests are offered.
The results of all three factors may indicate a higher chance of Down Syndrome. If this is the case, the woman may be advised to have a more reliable screen such as cell-free fetal DNA screening or an invasive diagnostic test (such as chorionic villus sampling or amniocentesis ).
The newer integrated screen (formerly called F.A.S.T.E.R for First And Second Trimester Early Results) can be done at 10 plus weeks to 13 plus weeks with an ultrasound of the fetal neck (thicker nuchal skin correlates with higher risk of Down syndrome being present) and two chemicals (analytes), pregnancy-associated plasma protein A and human ...
While many of the physical findings are similar to Edwards syndrome, there are a few unique traits, such as polydactyly. However, unlike Edwards syndrome and Down syndrome, the quad screen does not provide a reliable means of screening for this disorder. This is due to the variability of the results seen in fetuses with Patau. [6]
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Second-trimester ultrasound screening for aneuploidies, such as Edwards syndrome and Patau syndrome, is based on looking for soft markers and some predefined structural abnormalities. Soft markers are variations from normal anatomy, which are more common in aneuploid fetuses compared to euploid ones.