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As nuchal translucency size increases, the chances of a chromosomal abnormality and mortality increase; 65% of the largest translucencies (>6.5mm) are due to chromosomal abnormality, while fatality is 19% at this size. [2] A nuchal scan may also help confirm both the accuracy of the pregnancy dates and the fetal viability.
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 ...
Reference ranges (reference intervals) for blood tests are sets of values used by a health professional to interpret a set of medical test results from blood samples. Reference ranges for blood tests are studied within the field of clinical chemistry (also known as "clinical biochemistry", "chemical pathology" or "pure blood chemistry"), the ...
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.
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The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...
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 ...
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