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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.
The ultrasound is used to visually assess the growth, development, and activity of the fetus through imaging observations and measurements. The ultrasound portion of the first trimester screen can include a nuchal translucency screen and a fetal nasal bone determination screen.
Some abnormalities detected by ultrasound can be addressed by medical treatment in utero or by perinatal care, though indications of other abnormalities can lead to a decision regarding abortion. Perhaps the most common such test uses a measurement of the nuchal translucency thickness ("NT-test", or "Nuchal Scan").
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]
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.
Perlman syndrome may be detected as early as gestational week 18 by prenatal ultrasound. 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.
Somatic errors are thus less likely than meiotic errors to be associated with either ultrasound abnormalities, growth problems or detectable levels of trisomy in small samples of prenatal CVS. Currently, there is no evidence that somatic errors, which lead to confined placental trisomy, are of any clinical consequence.
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 ...