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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 ...
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.
Increased nuchal translucency or other abnormal ultrasound findings; Family history of a chromosomal abnormality or other genetic disorder; Parents are known carriers for a genetic disorder; Advanced maternal age (maternal age above 35). AMA is associated with increase risk of Down's syndrome and at age 35, risk is 1:400.
Nuchal translucency scan (NT) in first trimester fetus. Benacerraf did her residency in radiology at Massachusetts General Hospital. She then accepted a fellowship at Brigham and Women's Hospital where she specialized in ultrasound. She established a practice in 1982 specializing in prenatal ultrasound. [1]
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 ...
Nicolaides has developed methods of (i) screening for premature birth (which is the main cause of perinatal morbidity and mortality) by measurement of cervical length and prevention through the use of vaginal progesterone, [9] (ii) screening for pre-eclampsia (which is one of the main causes of maternal mortality) by measurement of blood flow ...
In the first trimester, cystic hygroma and thickened nuchal translucency may be observed. Macrosomia, macrocephaly, enlarged kidneys, macroglossia, cardiac abnormalities, and visceromegaly may become evident by the second and third trimesters. [1] [3] Polyhydramnios is frequently observed. [2]