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NIPT is used to detect an array of genetic disorders including Trisomy 13 (Patau Syndrome), Trisomy 18 (Edward's Syndrome), and Trisomy 21 (Down Syndrome). [32] It can also be used to determine the sex and paternity of a child while still in utero. The most common genetic condition tested for is Trisomy 21.
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 ...
The different screening techniques in use are able to pick up 90–95% of cases, with a false-positive rate of 2–5%. [115] If Down syndrome occurs in one in 500 pregnancies with a 90% detection rate and the test used has a 5% false-positive rate, this means, of 20 women who test positive on screening, only one will not have a fetus with Down ...
In about 1 to 2% of persons of Down syndrome, mosaicism is seen — that is when some of the cells have 46 chromosomes (two No. 21 chromosomes) and some cells have 47 chromosomes (three No. 21 ...
The fluid is then tested for chromosomal abnormalities such as Down syndrome (trisomy 21) and trisomy 18, which can result in neonatal or fetal death. Test results can be retrieved within 7–14 days after the test is done. This method is 99.4% accurate at detecting and diagnosing fetal chromosome abnormalities.
The ad includes other things that people with Down syndrome can do, such as swearing and having sex, and some people online have called it out with one user saying it is “crass.”
In fact, consider that Down syndrome affects about 1:400 pregnancies; if you screened 4000 pregnancies with a Quad test, there would probably be 10 Down syndrome pregnancies of which the Quad test, with its 80% sensitivity, would call 8 of them high-risk. The quad test would also tell 5% (~200) of the 3990 normal women that they are high-risk.
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