Blood and lymphatic vessels in fetuses with increased nuchal translucency at 11-14 weeks' gestation: A review

TY - JOUR

T1 - Blood and lymphatic vessels in fetuses with increased nuchal translucency at 11-14 weeks' gestation: A review

AU - von Kaisenberg, C S

AU - Nicolaides, K H

AU - Brand-Saberi, B

PY - 2004/11

Y1 - 2004/11

N2 - Nuchal skin edema at 11 - 14 weeks of gestation, revealed by ultrasonography as increased nuchal translucency, is found in about 75 % of fetuses with trisomies 21,18 and 13 as well as those with Turner's syndrome. The measurement of nuchal translucency at 11 - 14 wks has today become the most sensitive screening method for aneuploidy, cardiac defects, skeletal anomalies, genetic syndromes and is associated with a series of structural abnormalities. The simplified picture of connective tissues as frameworks of insoluble fibrils and soluble polymers highlights the importance of collagen fibres in resisting tensile stress and of proteoglycans in binding large amounts of water, thus swelling and resisting compressive forces or facilitating the formation of an interstitial edema. Many of such insoluble fibrils are encoded on either chromosomes 21,18 or 13 and an altered composition of the extracellular matrix is the consequence of the respective trisomies. Hyaluronan is a molecule which can bind large amounts of water. Superoxide dismutase, which protects against free radicals-mediated degradation of hyaluronan, is encoded by chromosome 21 and may decrease hyaluronan degradation. The key feature of many of the glycoproteins is their ability to interact with cells, matrix proteins or growth factors and to have thus the ability to influence cell behaviour and migration by allowing attachment. Chondroitin sulfate proteoglycans are known to have an influence on cell migration, in particular on the migration of neural crest cells and outgrowing axons. The migration of blood and lymphatic vessel forming cells is also affected. This review summarizes the various studies on the pathophysiology of increased nuchal translucency regarding vascular and lymphatic development and the genetic regulation of an abnormal extracellular matrix.

AB - Nuchal skin edema at 11 - 14 weeks of gestation, revealed by ultrasonography as increased nuchal translucency, is found in about 75 % of fetuses with trisomies 21,18 and 13 as well as those with Turner's syndrome. The measurement of nuchal translucency at 11 - 14 wks has today become the most sensitive screening method for aneuploidy, cardiac defects, skeletal anomalies, genetic syndromes and is associated with a series of structural abnormalities. The simplified picture of connective tissues as frameworks of insoluble fibrils and soluble polymers highlights the importance of collagen fibres in resisting tensile stress and of proteoglycans in binding large amounts of water, thus swelling and resisting compressive forces or facilitating the formation of an interstitial edema. Many of such insoluble fibrils are encoded on either chromosomes 21,18 or 13 and an altered composition of the extracellular matrix is the consequence of the respective trisomies. Hyaluronan is a molecule which can bind large amounts of water. Superoxide dismutase, which protects against free radicals-mediated degradation of hyaluronan, is encoded by chromosome 21 and may decrease hyaluronan degradation. The key feature of many of the glycoproteins is their ability to interact with cells, matrix proteins or growth factors and to have thus the ability to influence cell behaviour and migration by allowing attachment. Chondroitin sulfate proteoglycans are known to have an influence on cell migration, in particular on the migration of neural crest cells and outgrowing axons. The migration of blood and lymphatic vessel forming cells is also affected. This review summarizes the various studies on the pathophysiology of increased nuchal translucency regarding vascular and lymphatic development and the genetic regulation of an abnormal extracellular matrix.

U2 - 10.1055/s-2004-821087

DO - 10.1055/s-2004-821087

M3 - Literature review

VL - 64

SP - 1167

EP - 1176

JO - GEBURTSHILFE UND FRAUENHEILKUNDE

JF - GEBURTSHILFE UND FRAUENHEILKUNDE

IS - 11

ER -