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The test can also detect disorders that affect the sex-linked chromosomes such as Turner's Syndrome, Triple X Syndrome, and Klinefelter Syndrome. NIPT can also detect congenital heart disease such as atrioventricular septal defect, and this disease can also be a side effect in the conditions mentioned above. [33]
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 ...
One of the major advantages of the non-invasive prenatal testing is that the chance of a false positive result is very low. This accuracy is very important for the pregnant woman, as due to a high sensitivity and specificity of the testing, especially for Down syndrome, the invasive testing could be avoided, which includes the risk of a ...
Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
(MPSS) is estimated to have a sensitivity of between 96 and 100%, and a specificity between 94 and 100% for detecting Down syndrome. It can be performed at 10 weeks of gestational age. [66] One study in the United States estimated a false positive rate of 0.3% and a positive predictive value of 80% when using cffDNA to detect Down syndrome. [67]
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% ...
46, XX male syndrome, also known as de la Chapelle syndrome In this list, the karyotype is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell. (In the second and third cases the karyotype varies from cell to cell, while in the last three cases, the genotype is normal but the phenotype is not.)
Henry Hubert Turner (August 28, 1892 – August 4, 1970) was an American endocrinologist, noted for his published description of Turner syndrome in 1938 at the annual meeting of the Association for the Study of Internal Secretions.