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Nuchal translucency testing is distinctly different from and should not be confused with nuchal thickness testing. At the end of the first trimester (14 weeks), the nuchal translucency can no longer be seen and instead the nuchal fold thickness is measured between 16 and 24 weeks gestation.
Perhaps the most common such test uses a measurement of the nuchal translucency thickness ("NT-test", or "Nuchal Scan"). 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.
This is untrue: At the end of the second trimester, the nuchal translucency can no longer be seen and instead the nuchal fold is measured. The fold is more focal and at the level of the posterior fossa. This measurement has a higher threshold of normal, although the implications of increased thickness are similar to those of translucency.
Screening tests can then include serum analyte screening or cell-free fetal DNA, and nuchal translucency ultrasound [NT], respectively. [59] It is important to note that screening tests are not diagnostic, and concerning screening results should be followed up with invasive diagnostic testing for a confirmed diagnosis.
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Increased nuchal translucency in a first-trimester ultrasound may indicate the presence of 13q deletion. [6] It is important to follow through with genetic testing because there are many other diseases that have similar clinical manifestations of 13q deletion syndrome.