Pathophysiology of increased nuchal translucency in chromosomally abnormal fetuses

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Objective: In about 80% of fetuses with trisomies, 21, 18 or 13 and Turner syndrome there is increased collection of fluid in the neck region that can be visualized sonographically at 10-14 weeks of gestation as increased nuchal translucency thickness. The pathophysiology of this common phenotypic expression of different chromosomal abnormalities is uncertain but there is some evidence that the underlying mechanism may be cardiac failure, possibly due to abnormalities of the heart and great arteries, and altered composition of the skin. The latter may be due to a gene dosage effect of the three, rather than the normal two copies of genes, found in trisomies causing an alteration of the extracellular matrix in the skin or abnormal development of the heart and great arteries.

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