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WS10: Chromosomopathies
WS10‐01Pathophysiology of increased nuchal translucency‐abnormalities of the extracellular matrix
Author(s) -
Von Kaisenberg C.S.,
Jonat W.,
BrandSaberi B.,
Farzaneh F.,
Nicolaides K.H.
Publication year - 2000
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2000.00009-1-62.x
Subject(s) - extracellular matrix , fetus , medicine , in situ hybridization , pathology , laminin , heart failure , pathophysiology , extracellular , endocrinology , gene expression , biology , microbiology and biotechnology , gene , genetics , pregnancy
Objective In about 80% of fetuses with trisomies, Turner syndrome, and in fetuses with skeletal abnormalities, genetic syndromes, structural abnormalities and cardiac defects, there is increased collection of fluid in the neck region. This can be visualized sonographically at 11–14 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 altered composition of extracellular matrix components and/or cardiac failure. Methods We performed a number of studies investigating nuchal skin tissue for various extracellular matrix components and cardiac heart failure using molecular techniques. We used northern blotting, immunohistochemistry, electron‐microscopy and in situ hybridization. Results Studies investigating the heart found increased levels of mRNA for ANP and BNP, and reduced levels of Calcium ATPase, whereas transcript levels for GATA‐4 were unchanged. Studies investigating components of the extracellular matrix in nuchal skin of trisomic fetuses found overexpression of ecm genes in trisomies (collagen type VI, collagen type IV, laminin) or an altered ratio of genes between normals and abnormals (collagen type VI). Conclusions The present data provide some evidence, that chromosomally abnormal fetuses with increased nuchal translucency at 12–14 week may suffer from an altered extracellular matrix of the heart and skin or transient heart failure.