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Human Reproduction, Vol. 15, No. 5, 1155-1158, May 2000
© 2000 European Society of Human Reproduction and Embryology

Hyaluronan in the nuchal skin of chromosomally abnormal fetuses

S. Böhlandt1, C.S. von Kaisenberg1,2,3, K. Wewetzer1,4, B. Christ1, K.H. Nicolaides2 and B. Brand-Saberi1,5

1 Department of Anatomy, University of Freiburg, Germany, 2 Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK, 3 Department of Obstetrics and Gynaecology, University Hospital, Kiel and 4 Centre of Anatomy, Medical School Hannover, Germany

Nuchal skin oedema at 10–14 weeks gestation, observed by ultrasonography as increased nuchal translucency (NT), is found in ~70% of fetuses with trisomies 21, 18 and 13 as well as those with Turner's syndrome. This study investigates the possibility that one mechanism for increased translucency is an altered composition of the skin with a higher concentration of hyaluronan; large amounts of hyaluronan can lead to excessive hydration of the extracellular matrix. We isolated the hyaluronic acid binding region (HABR) from aggrecan in the extracellular matrix of hyaline cartilage and used it in a biotinylated form in combination with a fluorescent probe as a marker for hyaluronan. Immunohistochemistry was then used to examine the nuchal skin of chromosomally abnormal and normal fetuses, obtained after termination of pregnancy. In fetuses with trisomy 21 there was a substantial increase in hyaluronan, whereas in trisomies 18 and 13 and Turner's syndrome the amount was similar to that in chromosomally normal controls. This finding suggests that hyaluronan may be implicated in the pathogenesis of increased NT in fetuses with trisomy 21, but the common phenotypic expression of increased translucency in different chromosomal abnormalities may be the consequence of other mechanisms.

Key words: extracellular matrix/hyaluronan/nuchal translucency/trisomies/Turner's syndrome

5 To whom correspondence should be addressed at: Department of Anatomy, University of Freiburg, Albertstr. 17, 79104 Freiburg, Germany


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