Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report

Chromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1–q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1–q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications.

Portal Vein Dopplerflowmetry in healthy sheep according to age

ABSTRACT: Pulsed Doppler ultrasound was used to evaluate portal blood flow, portal velocity and portal congestion index in 24 healthy sheep divided into groups (lambs, yearlings and ewes), according to age. Measurements were performed at the 11th right intercostal space using ideal insonation angle and uniform insonation method. Mean values obtained in each group were compared with one-way ANOVA, followed by Tukey post-hoc test. Portal velocity and portal blood flow were statistically similar between the groups (P>0.05). Mean portal velocity were 17.75; 17.13 and 16.75; while mean portal blood flow were 26.65; 31.04 and 24.32 for lambs, yearlings and ewes, respectively. Portal congestion index was statistically distinct between the groups and values for lambs, yearlings and ewes were 0.009; 0.058 and 0.09, respectively (P<0.01). Statistical differences were observed in portal vein diameter, portal vein area and portal congestion index between the groups, presumably due to influence of weight and not to age.

Coronary sinus fow measured by pulsed Doppler ultrasound is a powerful indicator of coronary blood supply – a pig heart in vitro study.

Aims: To evaluate the correlation between the coronary sinus fow and the infusion volume in the coronaries and assess the performance of coronary sinus fow in predicting coronary artery occlusion in an isolated pig heart. Material and methods: The coronary sinus fow was measured in 16 isolated pig hearts by pulsed Doppler ultrasound. The correlation between the coronary sinus fow and the infusion volume in different coronary artery was analyzed, and the performance of coronary sinus fow in predicting different coronary artery occlusion was deducted. Results: There were no statistically signifcant differences between the coronary sinus fow and the infusion volume in different coronary artery (p>0.05). The correlations between the coronary sinus fow and the infusion volume in left anterior descending coronary artery (LAD), left circumfex coronary artery (LCX), LAD and LCX, and LAD, LCX and right coronary artery (RCA) were all higher than 0.85 (p<0.01), and those of RCA, LAD and RCA, and LCX and RCA were between 0.6 and 0.8 (p<0.05). The areas under the receiver operating characteristics curve (AUC) were all higher than 0.90 (p<0.05) in predicting any two coronaries occlusion (<50% and 100%) and three coronaries occlusion (<50%) with a >85% sensitivity and specifcity. Excepting RCA mild occlusion (<50%), AUCs in predicting one coronary occlusion (<50% and 100%) were between 0.7 and 0.9, with >80% sensitivity and specifcity. Conclusions: The coronary sinus fow measured by pulsed Doppler ultrasound can effectively and exactly refect the infusion volume in coronaries, which is a powerful indicator of coronary blood supply.

Application of Womersley Model to Reconstruct Pulsatile Flow From Doppler Ultrasound Measurements

A Womersley model-based assessment of pulsatile rigid-tube flow is presented. Multigate Doppler ultrasound was used to measure axial velocities at many radial locations along a single interrogation beam going through the center of a stiff tube. However, a large impediment to Doppler ultrasound diagnostics and resolution close to the wall is considerable noise due to the presence of the wall-fluid interface as well as many other effects, such as spectral broadening, coherent scattering, time resolution, and Doppler angle uncertainty. Thus, our confidence in measured signals is questionable, especially in the wall vicinity where the important oscillatory shear stresses occur. In order to alleviate known biases and shortcomings of the pulsed Doppler ultrasound measurements we have applied Womersley's laminar axisymmetric rigid-tube approximation to reconstruct velocity profiles over the entire flow domain and specifically close to wall, enabling unambiguous determination of the shear stresses. We employ harmonic analysis of the measured velocity profiles at all or selected trusted tube radial locations over one or more periods. Each of estimated Fourier coefficients has a unique counterpart in the respective pressure gradient component. From ensemble-averaged cross-sectional pressure gradient components we compute velocity profiles, volume flow rate, wall shear stress, and other flow parameters. Estimation of the pressure gradients from spatially resolved pulsed Doppler ultrasound velocity measurements is an added benefit of our reconstruction method. Multigate pulsed Doppler ultrasound scanners offer powerful capabilities to noninvasively and nonintrusively measure velocity profiles for hemodynamic and other fluid flow applications. This flow reconstruction method can also be tailored for use with other flow diagnostic modalities, such as magnetic resonance imaging (MRI) and a wide class of optical methods.

Diagnostic Ultrasound Safety

ABSTRACT Ultrasound bioeffect is discussed from its physical property, i.e. thermal effect by thermal index, mechanical effect by mechanical index, and by the output intensity of ultrasound. Generally, thermal and mechanical indices should be lower than 1 in obstetrical setting, and threshold output intensity of no bioeffect is lower than SPTA 240 mW/cm2 in pulse wave. Pulsed Doppler ultrasound thermal and mechanical indices should be also lower than 1, and should be carefully used it in 11 to 13+6 weeks of pregnancy. Real-time B-mode, transvaginal scan, pulsed Doppler, 3D and 4D ultrasound were separately discussed in the ultrasound safety. Generally diagnostic ultrasound is safe for the fetus and embryo, if thermal and mechanical indices are lower than 1, and ultrasound devices are safe, if it is used under official limitation, e.g. the output intensity is less than SPTA 10 mW/cm2 in Japan. The ultrasound user is responsible ultrasound safety, e.g. higher thermal and mechanical indices than 1 should be lowered to be lower than 1, controlling the device output intensity. The user should learn bioeffects of ultrasound and prudent use of ultrasound under the ALARA principle. How to cite this article Maeda K, Kurjak A. Diagnostic Ultrasound Safety. Donald School J Ultrasound Obstet Gynecol 2014;8(2):178-183.