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A nuchal scan or nuchal translucency (NT) scan/procedure is a sonographic prenatal screening scan to detect chromosomal abnormalities in a fetus, though altered extracellular matrix composition and limited lymphatic drainage can also be detected.
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 ...
Ultrasound imaging provides the opportunity to conduct a nuchal translucency (NT) scan screening for chromosomal abnormalities such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Using the information from the NT scan the mother can be offered an invasive diagnostic test for fetal chromosomal ...
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.
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. [2]
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]
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