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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.
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.
NIPT testing can be done as early as 10 weeks of pregnancy through delivery. Theres typically not enough fetal DNA in a pregnant persons blood before 10 weeks of pregnancy.
In general, sonograms are the most accurate when theyre done between 18 and 22 weeks of pregnancy, says Patricia A.
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.
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Disadvantages of screening include false reassurance, test-related stress and anxiety and risk of miscarriage.
Diagnostic accuracy of NIPT increases with gestational age. While sensitivity before week 7 is 74.5%, it is 94.8% in the gestational weeks 7-12 and 99.0% after week 20.
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.
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).
What are the different kinds of NIPTs? Multiple companies currently offer noninvasive prenatal testing, including Genesis Serenity, Harmony, Natera and MaterniT21. Each one offers slightly different panels screening for various genetic disorders. Some screen for abnormalities including triploidy and microdeletion.

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