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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 ...
Nuchal scanning alone detects 62% of all Down syndrome (sensitivity) with a false positive rate of 5.0%; the combination with blood testing gives corresponding values of 73% and 4.7%. [ 12 ] In another study values of 79.6% and 2.7% for the combined screening were then improved with the addition of second trimester ultrasound scanning to 89.7% ...
Prenatal care, also known as antenatal care, is a type of preventive healthcare.It is provided in the form of medical checkups, consisting of recommendations on managing a healthy lifestyle and the provision of medical information such as maternal physiological changes in pregnancy, biological changes, and prenatal nutrition including prenatal vitamins, which prevents potential health problems ...
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.
An example of an algorithm for determining the indication for prenatal genetic testing for trisomy 21 (Down syndrome), wherein the genetic blood test (in center) is performed by detecting cffDNA in a blood sample from the mother. [60] Trisomy 21. Fetal trisomy of chromosome 21 is the cause of Down's syndrome.
She and Doyle had genetic testing done, and were told that the fetus had tested positive for trisomy 21, a type of Down syndrome, a condition in which individuals have an extra copy of a chromosome.
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.
Although 91% of fetuses affected by Down syndrome exhibit this defect, 5% of fetuses flagged by the test do not have Down syndrome. Ultrasound may also detect fetal organ anomaly. Usually scans for this type of detection are done around 18 to 23 weeks of gestational age (called the " anatomy scan ", "anomaly scan," or "level 2 ultrasound").