Search

Aim: To evaluate first-trimester ductus venosus flow in relation to nuchal translucency (NT) and fetal karyotype., Methods: Ductus venosus flow was measured in fetuses with NT greater than or equal to the 95th centile (group A) and in fetuses with NT less than the 95th centile (group B). The waveforms were classified as normal if the lowest forward velocity during atrial contraction (ACV) was positive and abnormal if it was absent or negative. The results were compared with the fetal karyotype., Results: Ductus venosus measurement was carried out in 330 fetuses. In group A, there were 156 fetuses: in 4 cases, it was not possible to obtain the measurement, and in the other 152 cases, 93 (61%) had a normal ACV and 59 (39%) an abnormal ACV. NT thickness was significantly greater in fetuses with abnormal ACV. In 34 out of 156 cases (22%), chromosomal abnormalities were found. Twenty-three chromosomopathies out of 33 (70%) had an abnormal ACV, and 10 (30%) had a normal ACV. A significant association between abnormal karyotype and abnormal ACV was found. Ductus venosus measurement was carried out in 174 fetuses of group B. In 1 case, it was not possible to obtain the measurement. One hundred and seventy-one (99%) cases had a normal ACV, and in 2 (1%) cases the ACV was abnormal. No chromosomal abnormalities were found in group B. Considering group A and group B, a significant association between the finding of an enlarged NT and abnormal ACV was detected (p < 0.05)., Conclusions: An abnormal ACV is more frequent in fetuses presenting enlarged NT than in those having normal NTs and in fetuses having the larger nuchal thickness. The probability of having a chromosomal abnormality in fetuses with enlarged NT is greater when an abnormal ACV is found., (Copyright 2002 S. Karger AG, Basel)

Objective: To evaluate the screening of chromosomal abnormalities by nuchal translucency (NT) measurement., Methods: Assessment of risk for chromosomal abnormalities by NT and maternal age in 5,210 single fetuses with karyotype and outcome already known., Results: Risk was > or =1 in 300 in 640 (12.2%) of all fetuses, in 575 (11.1%) of the normal fetuses, in 38 (80.8%) of the fetuses affected by trisomy 21, and in 65 (89%) of the fetuses affected by chromosomal abnormalities. Risk was > or =1 in 200 in 477 (9.1%) of all fetuses, in 418 (8.1%) of the normal fetuses, in 35 (74.4%) of the fetuses affected by trisomy 21, and in 59 (80.8%) of the fetuses affected by chromosomal abnormalities. Risk was > or =1 in 100 in 270 (5.1%) of all fetuses, in 216 (4.2%) of the normal fetuses, in 33 (70.2%) of the fetuses affected by trisomy 21, and in 54 (73.9%) of the fetuses affected by chromosomal abnormalities., Conclusions: Risk generated by NT and maternal age is effective in screening for chromosomal abnormalities., (Copyright 2000 S. Karger AG, Basel.)

Recent studies have shown that a membrane p-glycoprotein, encoded by MDR1 gene, is involved in the transport of free cholesterol from the plasma membrane to endoplasmic reticulum, the site of cholesterol esterification by acyl-CoA:cholesterol acyltransferase (ACAT). Moreover, results deriving from our previous studies have shown that the rate of cell proliferation was positively correlated with cholesteryl ester levels as well as with ACAT and MDR1 gene expression. In this study, lipid content and the expression of the genes involved in cholesterol metabolism such as hydroxy-methylglutaryl coenzyme A reductase (HMGCoA-R), low-density lipoprotein receptor (LDL-R), ACAT and MDR1 have been investigated in control and atherosclerotic arteries. The results have shown that the levels of cholesteryl ester increase with the age of cadaveric donors in arteries prone to atherosclerosis (abdominal aorta, superficial femoral artery) and become predominant in advanced atherosclerotic lesions. The mRNA levels of ACAT and MDR1 showed the same age correlation, reaching the highest values in atherosclerotic specimens. These results suggest that MDR1 may be involved in the accumulation of intracellular cholesterol ester levels found in atherosclerotic lesions. Moreover, the levels of HMGCoA-R, LDL-R and ACAT gene expressions progressively increased with the age of cadaveric donors; conversely, in atherosclerotic specimens, the mRNA levels of HMGCoA-R and LDL-R drastically decreased while ACAT gene expression reached its maximum. These findings suggest a reactivation of normal homeostatic regulation of cholesterol in advanced and complicated lesions.