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How to define a normal or abnormal nuchal translucency measurement can be difficult. The use of a single millimeter cutoff (such as 2.5 or 3.0 mm) is inappropriate because nuchal translucency measurements normally increases with gestational age (by approximately 15% to 20% per gestational week from 10 to 13 weeks). [10]
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.
Around weeks 11–13, nuchal translucency scan (NT) may be offered which can be combined with blood tests for PAPP-A and beta-hCG, two serum markers that correlate with chromosomal abnormalities, in what is called the First Trimester Combined Test. The results of the blood test are then combined with the NT ultrasound measurements, maternal age ...
An impaired placenta cannot support the pregnancy and this may lead to the loss of a chromosomally normal baby. [5] On the other hand, an apparently normal diploid fetus may experience problems with growth or development due to the effects of uniparental disomy (UPD). Intrauterine growth restriction (IUGR) has been reported in a number of CPM ...
A nuchal cord was diagnosed if the cord was visualized lying around at least 3 of the 4 sides of the neck. A cord was actually present at delivery in 52 of the 289 women. Only 18 of the 52 cords or 35% of the nuchal cords were detected on ultrasound done immediately before delivery, and 65% of nuchal cords were not detected.
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.
Other prenatal screening tests include serum integrated protein tests, cell free DNA blood tests to check for chromosomal abnormalities, and nuchal translucency ultrasounds. If their medical system is able to provide them, mothers can also undergo more invasive diagnostic tests such as an amniocentesis, or chorionic villous sampling to detect ...
The standard definition of a reference range for a particular measurement is defined as the interval between which 95% of values of a reference population fall into, in such a way that 2.5% of the time a value will be less than the lower limit of this interval, and 2.5% of the time it will be larger than the upper limit of this interval, whatever the distribution of these values.