INTRODUCTION\nThe differential insertion of the atrioventricular valves is the ultrasonographic representation of the more apical attachment of the tricuspid valve to the septum with respect to the... Show moreINTRODUCTION\nThe differential insertion of the atrioventricular valves is the ultrasonographic representation of the more apical attachment of the tricuspid valve to the septum with respect to the mitral valve. A linear insertion is present when both valves form a linear continuum and is suggested as a marker for atrioventricular septal defects (AVSDs). The objective is to evaluate the anatomical substratum of differential and linear insertion of the atrioventricular valves in normal fetal hearts and fetal hearts with an AVSD.\nMETHODS\nThe extent and position of the fibrous skeleton and attachment of atrioventricular valves to the septum were studied in histological sections of 17 normal hearts and 4 hearts with an AVSD (10 + 0 weeks gestation - 3 days postpartum) with various immunohistochemical tissue markers. In addition, STIC volumes of 10 normal hearts and STIC volumes of 8 hearts with AVSD (13 + 6 - 35 + 5 weeks gestational age) were examined.\nRESULTS\nThe differential insertion of the atrioventricular valves was visible in normal hearts in the four-chamber plane immediately beneath the aorta. More towards the diaphragm, a linear insertion was found. In hearts with an AVSD, a linear appearance was observed in the four-chamber plane immediately beneath the aorta. Towards the diaphragm, however, first a differential and more caudal, a linear insertion was found.\nCONCLUSION\nBoth differential and linear insertion can be found in normal fetal hearts and fetal hearts with AVSD, dependent on the plane in which the four-chamber view is visualised. Therefore, measurement of the differential insertion is probably only useful in experienced hands. Show less
OBJECTIVE Increased nuchal translucency in the human fetus is associated with aneuploidy, structural malformations and several syndromes such as Noonan syndrome. In 60–70% of the Noonan syndrome... Show moreOBJECTIVE Increased nuchal translucency in the human fetus is associated with aneuploidy, structural malformations and several syndromes such as Noonan syndrome. In 60–70% of the Noonan syndrome cases, a gene mutation can be demonstrated. Previous research showed that aneuploid fetuses with increased nuchal translucency (NT) demonstrate an aberrant lymphatic endothelial differentiation. METHOD Fetuses with increased NT and normal karyotype (n = 7) were compared with euploid controls having normal NT (n = 5). A Noonan syndrome gene mutation was found in three out of seven fetuses with increased NT. Endothelial differentiation was evaluated by immunohistochemistry using lymphatic markers (PROX-1, Podoplanin, LYVE-1) and blood vessel markers vascular endothelial growth factor-A (VEGF-A), Neuropilin-1 (NP-1), Sonic hedgehog, von Willebrand factor, and the smooth muscle cell marker, smooth muscle actin. RESULTS Nuchal edema and enlarged jugular lymphatic sacs (JLSs) were observed in fetuses with increased NT, together with abnormal lymphatic endothelial differentiation i.e. the presence of blood vessel characteristics, including high levels of VEGF-A and NP-1 expression. The enlarged JLSs contained erythrocytes and were surrounded by smooth muscle cells. CONCLUSION This study shows an aberrant lymphatic endothelial differentiation in fetuses with increased NT and a normal karyotype (including Noonan syndrome fetuses), as was previously reported before in aneuploid fetuses. Show less
Objective. The purpose of this study was to evaluate ductus venosus flow velocities and a possible relationship with the type of cardiac defect in fetuses with increased nuchal translucency (NT).... Show moreObjective. The purpose of this study was to evaluate ductus venosus flow velocities and a possible relationship with the type of cardiac defect in fetuses with increased nuchal translucency (NT). Methods. Seventy-two fetuses with normal NT and 137 fetuses with increased NT (>95th percentile) were evaluated. The ductus venosus pulsatility index for veins (Ply), late diastolic velocity (velocity during atrial contraction [a-V]), and intracardiac velocities were evaluated. In cases of pregnancy termination, a postmortem examination was performed. Cardiac defects were grouped into septal defects, left and right inflow obstruction, left and right outflow obstruction, and other defects. Data were evaluated by multilevel analysis. Results. A cardiac defect was found in 45 fetuses with increased NT. Fetuses with increased NT showed a higher ductus venosus PIV and a lower a-V compared to fetuses with normal NT (P < .05). Within the group of fetuses with increased NT, a higher PIV and a lower a-V were found in cases with a cardiac defect compared to cases with a normal heart (P < .001). No differences in PIV and a-V were found between the types of cardiac defects. Intracardiac velocities showed no differences between fetuses with normal and increased NT, irrespective of the presence of a cardiac defect. Conclusions. Ductus venosus flow velocities in fetuses with increased NT are not related to a certain type of cardiac defect. This indicates that the altered ductus venosus flow velocities found in fetuses with increased NT cannot be explained by cardiac failure due to a specific altered cardiac anatomy. Show less
OBJECTIVE: We sought to assess blood flow in relation to jugular lymphatic distension in fetuses with increased and normal nuchal translucency (NT). STUDY DESIGN: In all, 72 fetuses with normal NT... Show moreOBJECTIVE: We sought to assess blood flow in relation to jugular lymphatic distension in fetuses with increased and normal nuchal translucency (NT). STUDY DESIGN: In all, 72 fetuses with normal NT and 71 fetuses with NT >95th percentile were evaluated. NT size, jugular lymphatic sacs (JLS), jugular vein and ductus venosus pulsatility index for veins (PIV), and intracardiac velocities were measured. RESULTS: JLS were visualized in 22/72 fetuses with normal and in 55/71 fetuses with increased NT. Jugular vein and ductus venosus PIV was higher in fetuses with increased NT compared to normal NT (P < .01). Visibility of JLS was associated with a higher ductus venous PIV (P < .05), but not with a higher jugular vein PIV. Larger NT and larger JLS volumes were associated with higher jugular vein and ductus venosus PIV (P < .05). CONCLUSION: This study shows a relation among increased NT, jugular lymphatic distension, and altered blood flow in jugular vein and ductus venosus. Show less
