The composition of perinatal genetic screening during pregnancy usually includes not only blood tests for biochemical markers but also ultrasounds with the determination of the thickness of the collar area (space) of the fetus. What is the collar space and why is it measured?
After analyzing numerous ultrasound images, scientists concluded that a fetus with chromosomal abnormalities can have not only large structural anomalies but also minor deviations in the structure “soft” ultrasound signs that are found at different periods of intrauterine development.
Ultrasound signs (markers) are not diagnostic criteria separately, but in aggregate they may indicate the presence of any chromosomal or genetic disorder. One of these markers is the skin fold on the back of the fetal neck, which is called the collar fold or collar space (cervical transparency, nuchal translucency, NT, collar area, VP, VZ).
It was observed that in fruits affected by trisomy 21 ( Down syndrome ) and other chromosomal abnormalities, the size of this space is most often greater than the norm. The first signs of trisomy 21 were described by Down in 1866, but only in the early 1990s, doctors noticed a number of features: the thickness of the skin neck fold behind and the short nose due to the absence of a nasal bone.
By combining the analysis of biochemical markers and ultrasound measurement of the collar space, up to 90% of other fetal malformations can be detected. Increased size of CAP (more than 3 mm) may be noted in certain malformations of the cardiovascular system, diaphragm (a diaphragmatic hernia), defects of the anterior abdominal wall (omphalocele), malformations of the kidneys and a number of genetic syndromes. In addition, the increased size of the neck area can be observed not only in trisomy 21 (Down syndrome) but also in trisomy 18, trisomy 13, Turner syndrome.
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