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Noninvasive prenatal testing (NIPT) is a method used to determine the risk for the fetus being born with certain chromosomal abnormalities, such as trisomy 21, trisomy 18 and trisomy 13. [ 1 ] [ 2 ] [ 3 ] This testing analyzes small DNA fragments that circulate in the blood of a pregnant woman. [ 4 ]
The AFP test is often done in the second trimester using the serum from the maternal blood draw. This test looks at a specific protein that is formed in the liver of the fetus and released into the fluid contents of the womb, which is then absorbed into the mother's blood stream. Multiple determinations stem from the results of AFP testing.
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.
The Prospera test is the first assay with high sensitivity to both T-cell-mediated and antibody-mediated rejection. [13] [14] In December 2019, the test received final Medicare coverage. In 2020, Natera launched Renasight, a test to determine if there is a genetic cause for an individual's kidney disease and if there may be other at-risk relatives.
The positive predictive value (PPV), or precision, is defined as = + = where a "true positive" is the event that the test makes a positive prediction, and the subject has a positive result under the gold standard, and a "false positive" is the event that the test makes a positive prediction, and the subject has a negative result under the gold standard.
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