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Research suggests that NIPTs have anywhere from 97 to 99 percent accuracy when it comes to predicting the risk of Down syndrome, Edwards syndrome or Patau syndrome.
NIPT is quite accurate for Down syndrome (99%) and for trisomy 18 (97%). It is less accurate for trisomy 13 (87%). In all cases, the results should not be considered certain unless confirmed by diagnostic testing. Two diagnostic procedures can usually confirm or disprove the results of NIPT.
Disadvantages of screening include false reassurance, test-related stress and anxiety and risk of miscarriage.
If you have a positive NIPT result, your healthcare provider will likely order additional diagnostic tests. In some cases, these diagnostic tests reveal that the baby doesnt have a chromosomal abnormality after all.
If the test is screen positive, you will be offered a diagnostic test, usually chorionic villus sampling (CVS) or possibly an amniocentesis. The diagnostic test will determine whether or not the pregnancy is actually affected. CVS is offered early in pregnancy (usually between 10 and 13 weeks).
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This is called the fetal fraction. For the most accurate test results possible, the fetal fraction must be over 4 percent. This usually happens around the 10th week of pregnancy and this is why the test is recommended after this time.
NIPT is more accurate than CFTS, with very high sensitivity (99.3%) and specificity (99.9%) for trisomy 21. 4 5 NIPT is safer than invasive diagnostic techniques such as chorionic villus sampling and amniocentesis, which carry a miscarriage risk of 0.1%0.2%.
Its well known that with NIPT, there is a risk of false positive cases due to the fact that the analyzed fetal DNA has a placental origin and another important factor is that placental mosaicism can give discordant, and therefore, invalid results (2630).
NIPT has a high FP rate for SCAs and RATs of 0.21% to 0.25% for all tested pregnancies and concerning those women getting a positive NIPT result, it is at 55.45 and 84.5, respectively (Table. 2). The rates are similar for microdeletion/microduplication syndrome detection.
Because Panorama uses a unique technology to distinguish between the pregnant persons and the babys DNA, it is the only NIPT that tests for triploidy, and it can avoid known sources of error that affect other NIPTs. Some conditions, such as Down syndrome, are caused by extra copies of a specific chromosome.

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