Objectives To assess the ability of the new software SonoAVC to measure follicular volume and to compare these volume calculations with those made by conventional methods.Methods Three-dimensional ultrasound imaging was used to acquire volumetric data from the ovaries of 51 women undergoing controlled ovarian stimulation as part of in-vitro fertilization treatment. All assessments were performed on the day of oocyte retrieval and the true volume of each follicle was ascertained by manual measurement of the follicular aspirate. SonoAVC was used to automatically measure the volume of follicles and to provide three perpendicular diameters (xyz diameters), which were used to estimate volume using the sphere formula. The sphere formula was also used to estimate the volume from manual measurements of follicle diameter derived from conventional two-dimensional (2D) displays. Virtual Organ Computer-aided AnaLysis (VOCAL) was also used to measure volume, and the validity of each technique was compared using limits of agreement.Results Two hundred and twenty-four follicles with a mean follicular volume of 3.7 (range, 0.4-16.2) cm(3) were studied. SonoAVC provided highly accurate automatic follicular volume measurements in all cases. Volume estimations made from the automatic maximal follicular diameter measurements (xyz diameters) were less valid. VOCAL proved highly valid but was less accurate than SonoAVC. Volumes estimated from manually derived follicular diameter measurements were the least accurate.Conclusions SonoAVC provides highly valid, automatic measurements of follicular volume. These measurements are more accurate than volumes estimated from 2D manual measurements, automated measurements of follicular diameter and those calculated using VOCAL. Copyright (C) 2008 ISUOG. Published by John Wiley & Sons, Ltd.

To assess the validity of manual measurements of follicular diameter with different 2D and 3D techniques and to compare these to measures derived from recently developed software (GE Healthcare) that automatically calculates the volume and relative dimensions of follicles within a 3D ultrasound dataset. A series of different sized follicles were chosen to provide a range of follicles with mean diameters of 11 to 22 mm. Five different follicles were examined within each size range. The true volume of each follicle was ascertained by manual measurement of the follicular aspirate and the estimated mean follicular diameter was calculated using the sphere formula. The mean diameter of each follicle was measured manually using a series of 2D and 3D techniques. The new software was used to provide an automatic measurement of the mean diameter (‘relaxed sphere diameter’) and three perpendicular diameters (‘xyz diameter’) of the follicle. Limits of agreement (LOA) were used to examine the difference in measurements. The ‘relaxed sphere diameter’ calculated by the automated software provided the most accurate measurements of follicular size, with values almost identical to the estimated diameter as calculated from the true follicular volume (Table). Automated ‘xyz’ measurements were less accurate and in many cases manual measurements were closer to the true value. Surprisingly the ‘single best estimate’ from a 2D image was the second most accurate technique although the LOA were better for measurements using the 3D display, especially for follicles measuring ≥ 18 mm. Recently developed software that automatically calculates the mean follicular diameter from 3D volumetric data provides a highly accurate assessment of follicle size. Manual measures are less accurate. The range of measurements is reduced when the 3D multiplanar view is used whilst the mean diameter and mean difference is not significantly different.

To assess the validity of new software (GE Healthcare) which automatically calculates the volume and dimensions of follicles within a 3D ultrasound dataset. 3D ultrasound was used to acquire volumetric data from the ovaries of 24 women undergoing ovarian stimulation as part of IVF treatment. All assessments were performed on the day of oocyte retrieval and the true volume of each follicle ascertained by manual measurement of the follicular aspirate. The new software automatically measures the volume of follicles and provides an estimate of the mean diameter (‘relaxed sphere diameter’) and the three perpendicular diameters (‘xyz diameters’). The mean diameter (MD) of these follicles was also measured manually using conventional 2D and 3D image displays and these values were used to estimate follicular volume (FV) using the sphere formula where FV (mL) = 4.1888 × (MD/2 cm)3. Limits of agreement were used to examine the validity of measurements. Some 100 follicles with a mean volume of 3.89 (range, 0.4–16.2) mL and diameter of 18.3 (range, 10.75–31.13) mm were studied. Results are summarized in the table. The software provided highly accurate automatic follicular volume measurements in all cases. Volume estimations made from automatic follicular diameter measurements using the ‘relaxed sphere diameter’ were equally valid whilst those made from the ‘xyz diameters’ were less valid but more accurate than volume estimations from manually derived follicular diameters. Volume estimations from manually derived diameters were more valid when the 3D multiplanar view was used. The new software provides automatic measurements of follicular diameter and volume that are more reliable and accurate than those estimated from manually derived follicular measurements. The software was developed in association with K plus Competence Center (Advanced Computer Vision) and part funded by the K plus Program.

We conducted this trial to test the hypothesis that use of a magnifying lens would facilitate umbilical arterial catheter (UA C) insertion in neonates. Neonates <33 weeks' gestation requiring a UA C were randomized to conventional method of catheter insertion or an experimental method using a 2.0 X magnifying lens mounted on a headband. A total of 44 neonates (Conventional = 23, Experimental = 21) with comparable demographic characteristics completed the study. The time taken for (primary outcome) and rate of successful UAC insertion (secondary outcome) were not significantly different between the two groups (median times: conventional: 88 seconds,experimental: 70 seconds, P = 0. 734) (Success rate: conventional: 19/23 (83%) vs experimental:13/21 (63%), P = 0. 1791 Thus, our hypothesis was rejected.

OBJECTIVES:To determine the accuracy of clinical diagnosis of Down syndrome, identify problems in reaching a diagnosis, to provide recommendations for improvement and estimate a minimum prevalence for all types of Down syndrome.DESIGN:A retrospective observational study was carried out over a five-year period. Genesis, a database located in the Department of Medical genetics, was used to identify the number of Down syndrome karyotypes including trisomy, translocation, and mosaic sample variants. Age of diagnosis was determined using date of receipt. Karyotyping requests for a clinical diagnosis of Down syndrome were also identified. Patient notes and cytogenetic laboratory reports were used to identify clinical indication for karyotyping.SETTING:Regional Genetics Centre, covering all cytogenetic analyses for referrals within the entire Northern Ireland population.RESULTS:208 postnatal cases of Down syndrome were identified, 197 (94.7%) trisomy, 3 (1.45%) translocation, and 8 (3.85%) mosaic variants. 112 (54.8%) were male and 96 (46.2%) female. 268 samples were taken to confirm or exclude a clinical diagnosis of Down syndrome. 185 of these had Down syndrome, 77 were normal, and 6 had another abnormality. 90% and 100% of trisomy and translocation Down syndrome respectively were diagnosed on the basis of clinical features. This fell to 37.5% of mosaic Down syndrome patients being diagnosed clinically (p < 0.001). Simian crease, sandal gap, epicanthic folds, hypotonia, upslanting palpebral fissures, and protruding tongue are the most frequent characteristic features seen. Similarly epicanthic folds, protruding tongue, simian crease and sandal gap, hypotonia, and upslanting palpebral fissures are also described in a significant proportion of karyotypically normal individuals, thus arousing a suspicion of Down syndrome. 89.4% of patients were diagnosed between day 1 and 7 of life. Of 10.6% patients diagnosed after day 7 of life, 7.6% were adults and 3% children. The minimum prevalence was estimated at 167.9 per 100,000, or 1 in 595 births.CONCLUSION:In a defined population, with a prevalence of around 1 in 600 births, accurate clinical diagnosis occurred in 90%, 100%, and 37.5% of trisomy, translocation, and mosaic patients. 49.5% of patients had one or more of the following phenotypic findings: Simian crease, sandal gap, epicanthic folds, hypotonia, upslanting palpebral fissures, and protruding tongue. However, the same six features aroused a suspicion of Down syndrome in individuals with normal karyotyping, thus causing undue stress and worry to parents. Mosaic cases may be more common than previously recognised, and often do not have dysmorphic features. It is therefore a diagnosis that should always be considered in those who are educationally subnormal without a definitive diagnosis.

The generation of contiguous physical maps is often complicated by a variety of factors including the type of cloning system used. Here we describe procedures for the isolation, rapid characterization, and physical mapping of large-insert recombinant bacterial clones from total human genomic BAC (bacterial artificial chromosome) and PAC (P1-derived artificial chromosome) libraries containing clones with an average insert size of 150 kbp. After initial isolation, the clones were subjected to a variety of fingerprinting procedures including inter-Alu PCR, semiautomated fluorescent finger-printing, and EcoRI restriction fragment mapping. Individual BAC and PAC clones were also used as probes to interrogate arrayed chromosome 19-specific cosmid libraries. The combination of analyses facilitated the identification of chromosome-specific large-insert clones as well as the construction of a large (1.2 Mb) high-resolution BAC, PAC, and cosmid contig in 19q13.2, spanning the region from the carcinoembryonic antigen gene family to the X-ray repair cross complementing 1 DNA repair gene. This type of approach directly demonstrates the utility of large-insert recombinant bacterial clones for the construction of contiguous physical maps of entire chromosomes.