A Polygenic Score Predicts Caries Experience in Elderly Swedish Adults.

Caries is a partially heritable disease, raising the possibility that a polygenic score (PS, a summary of an individual's genetic propensity for disease) might be a useful tool for risk assessment. To date, PS for some diseases have shown clinical utility, although no PS for caries has been evaluated. The objective of the study was to test whether a PS for caries is associated with disease experience or increment in a cohort of Swedish adults. A genome-wide PS for caries was trained using the results of a published genome-wide association meta-analysis and constructed in an independent cohort of 15,460 Swedish adults. Electronic dental records from the Swedish Quality Registry for Caries and Periodontitis (SKaPa) were used to compute the decayed, missing, and filled tooth surfaces (DMFS) index and the number of remaining teeth. The performance of the PS was evaluated by testing the association between the PS and DMFS at a single dental examination, as well as between the PS and the rate of change in DMFS. Participants in the highest and lowest deciles of PS had a mean DMFS of 63.5 and 46.3, respectively. A regression analysis confirmed this association where a 1 standard deviation increase in PS was associated with approximately 4-unit higher DMFS (P < 2 × 10-16). Participants with the highest decile of PS also had greater change in DMFS during follow-up. Results were robust to sensitivity analysis, which adjusted for age, age squared, sex, and the first 20 genetic principal components. Mediation analysis suggested that tooth loss was a strong mediating factor in the association between PS and DMFS but also supported a direct genetic effect on caries. In this cohort, there are clinically meaningful differences in DMFS between participants with high and low PS for caries. The results highlight the potential role of genomic data in improving caries risk assessment.

The impact of optimal dating on the assessment of fetal growth.

BACKGROUND: The impact of using the Intergrowth (IG) dating formulae in comparison to the commonly used Robinson dating on the evaluation of biometrics and estimated fetal weight (EFW) has not been evaluated. METHODS: Nationwide cross-sectional study of routine fetal ultrasound biometry in low-risk pregnant women whose gestational age (GA) had been previously assessed by a first trimester CRL measurement. We compared the CRL-based GA according to the Robinson formula and the IG formula. We evaluated the fetal biometric measurements as well as the EFW taken later in pregnancy depending on the dating formula used. Mean and standard deviation of the Z scores as well as the number and percentage of cases classified as <3rd, < 10th, >90th and > 97th percentile were compared. RESULTS: Three thousand five hundred twenty-two low-risk women with scans carried out after 18 weeks were included. There were differences of zero, one and 2 days in 642 (18.2%), 2700 (76.7%) and 180 (5%) when GA was estimated based on the Robinson or the IG formula, respectively. The biometry Z scores assessed later in pregnancy were all statistically significantly lower when the Intergrowth-based dating formula was used (p < 10- 4). Likewise, the number and percentage of foetuses classified as <3rd, < 10th, >90th and > 97th percentile demonstrated significant differences. As an example, the proportion of SGA foetuses varied from 3.46 to 4.57% (p = 0.02) and that of LGA foetuses from 17.86 to 13.4% (p < 10- 4). CONCLUSION: The dating formula used has a quite significant impact on the subsequent evaluation of biometry and EFW. We suggest that the combined and homogeneous use of a recent dating standard, together with prescriptive growth standards established on the same low-risk pregnancies, allows an optimal assessment of fetal growth.

Basic heart examination: feasibility study of first-trimester systematic simplified fetal echocardiography.

OBJECTIVE: First-trimester fetal cardiac screening examinations in low-risk populations should not have to meet the specifications required for high-risk populations. Our aim was to evaluate a simplified fetal echocardiographic ('basic heart') examination for early detection of severe congenital heart defects in a low-risk population. METHODS: This was a first-trimester national 'flash study', performed over a 2-week period. Each observer was requested to perform simplified echocardiography without modifying the time and methods deemed necessary for the routine first-trimester ultrasound examination, in fetuses with crown-rump length between 45 and 84 mm. This basic heart assessment used targeted cross-sections of the four-chamber view (4CV) and of the three vessels and trachea (3VT) view, using color and/or directional power Doppler. All examinations were then reviewed offline and scored for quality by a qualified expert. RESULTS: Sixty observers performed a total of 597 first-trimester ultrasound examinations, each performing an average of 10 (range, 1-26) procedures. Examinations were conducted transabdominally (79%; 472/597), transvaginally (3%; 17/597) or both (18%; 108/597). In 8% (45/597) of cases, the fetal back was anterior, in 18% (108/597) it was on the left side, in 63% (377/597) it was posterior and in 11% (67/597) it was on the right side. It became clear during scoring by the expert that, unlike the Herman quality score for nuchal translucency measurement, it was difficult to assess the quality of these images without taking into account normality of the heart itself. Analysis of scores showed that the 4CV was obtained successfully and was deemed normal in 86% (512/597) of the patients, in 7% (41/597) it was deemed technically infeasible and in 7% (44/597) it was deemed feasible but atypical, which may have been due to the presence of an abnormality or to poor quality of the image. The 3VT view was obtained successfully and was normal in 79% (472/597) of the patients, in 13% (78/597) it was technically infeasible and in 8% (47/597) it was deemed feasible but atypical. Both the 4CV and the 3VT view were obtained successfully and were normal in 73% (435/597) of patients. CONCLUSION: It is possible for a trained operator to perform simplified fetal echocardiography during the routine first-trimester ultrasound examination in a low-risk population. In most cases, our basic heart examination can be used to reassure parents or identify potential problems to be clarified as early as possible in the second trimester. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Implementing the INTERGROWTH-21st fetal growth standards in France: a 'flash study' of the College Français d'Echographie Foetale (CFEF).

OBJECTIVES: To assess potential differences in fetal size between the French population and the international population from the INTERGROWTH-21st (IG-21st ) Project and to measure the impact of switching to the IG-21st reference standards for fetal size. METHODS: This was a nationwide cross-sectional study of fetal ultrasound biometry. Low-risk singleton pregnancies were recruited prospectively within the network of the national French College of Fetal Ultrasound, CFEF, over a 6-week period. Further selection was performed based on the criteria of the IG-21st Project in order to obtain a comparable population. Head circumference (HC) was used as the main fat-free skeletal measure of growth for comparison of French fetal size with that of the IG-21st population. The impact of switching to the IG-21st fetal growth standards was quantified by comparing Z-scores calculated using the IG-21st standards with those calculated using locally derived reference ranges for HC, abdominal circumference (AC) and femur length (FL). RESULTS: Following selection, 4858 cases were analyzed. The distribution of HC demonstrated clear similarity between our French population and the IG-21st population: our observed centile curves closely matched those of IG-21st and the Z-scores were close to 0 across gestational age. The IG-21st standards performed as well as did locally derived charts in terms of screening for small-for-gestational age by AC, while they identified significantly fewer small FL values than were expected and than did the locally derived charts. CONCLUSIONS: Under strict selection criteria, fetal size in France is similar to that of the international population used in the IG-21st Project. The discrepancies in FL are unlikely to impact on prenatal management. Therefore, switching from locally derived reference ranges to the IG-21st standards appears to be a safe option. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

[Survey on the announcement of congenital diaphragmatic hernia by sonographers and evaluation of its prognosis]. / Enquête sur l'annonce du diagnostic et l'évaluation du pronostic des hernies de coupole diaphragmatique par les échographistes.

AIM: Congenital diaphragmatic hernia (CDH) is a rare disease (1/3000 live births). Carriers display a diaphragmatic defect responsible for an impaired pulmonary development and physiology. The aim of this study was to evaluate the information given to couples whose fetus display a CDH and the current knowledge of French sonographers about this disease. MATERIALS AND METHODS: A questionnaire was sent by email to 2000 sonographers, members of the French college of fetal ultrasonography, between May 1st and December 31st of 2010. RESULTS: 20,7 % (414) of the sonographers answered. Twenty-four percent are second line sonographers. Thirty-eight percent did not diagnose any diaphragmatic hernia in the last five years (2005-2010) and 42 % diagnosed 1 or 2 during the same period. Information concerning the prognostic remains elusive and most sonographers rapidly referred patients to prenatal diagnostic centers. Fifty-nine percent of sonographer are not aware of the existence in France of a Centre for Rare Disease for CDH. CONCLUSION: Accurate assessment of prognosis is essential to provide adequate information to couples and to help them make a decision on whether or not to perform an in utero treatment. The heterogenous results of the survey clearly show the disparities between sonographers on the type of information delivered. A better diffusion of prognostic evaluation in CDH, among sonographers is needed.

Online evaluation of fetal second-trimester four-chamber view images: a comparison of six evaluation methods.

OBJECTIVE: To compare six online evaluation methods for auditing routine second-trimester four-chamber view still images. METHODS: We evaluated three different scoring grids (subjective, five-item score and seven-item score), which were applied with or without access to online help, resulting in a total of six evaluation methods. For the subjective scoring grid, images were rated as excellent, good, fair, poor or very poor. For the five-item score, 1 point was allocated for visualization (vs non-visualization or non-evaluable) of each of: heart crux, atria, ventricles, apex and aorta, yielding a score of 0-5. For the seven-item score, 1 point was allocated for clear (vs unclear) visualization of each of: moderator band at the apex, interventricular septum, atrioventricular valves, non-linear insertion of atrioventricular valves (normal offset), septum primum, aorta and pulmonary vein. Each evaluation method was used via the Internet by three randomly selected reviewers, who evaluated the same set of 80 images. Reviewers were experienced in fetal ultrasound, but were not involved in the design of the study. Interrater agreement was the main outcome. RESULTS: The five-item scoring grid with online help achieved the best interrater agreement (interrater intraclass correlation coefficient = 0.7). CONCLUSIONS: Evaluation of the second-trimester sonographic four-chamber view is apparently best achieved with a simple five-item scoring grid.

Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum.

OBJECTIVES: To assess the ability of prenatal ultrasound and magnetic resonance imaging (MRI) to diagnose isolated anomalies of the corpus callosum (ACC) and to further document the long-term prognosis following diagnosis. METHODS: This was a prospective case-control study carried out between 1999 and 2004. Diagnosis was made by a combination of ultrasound and MRI. All infants were examined by a neuropediatrician and parents consented to answer questionnaires (CDI, Ireton's Child Developmental Inventory) in 22 cases, which were matched with 44 control infants. The CDI was used to assess neurodevelopmental outcome in cases and controls. Mean DQ-CDI (development quotient calculated from CDI) values and frequencies of abnormal results were compared between groups, and a meta-analysis of previous studies was performed. RESULTS: The diagnosis of ACC was made prenatally and confirmed postnatally in 175 cases. The diagnosis was thought to be isolated ACC in 88/175 (50%) cases. Sixty of these 88 cases (68%) underwent termination of pregnancy and one died in utero. Twenty-seven were liveborn, of which 26 were followed up for a median of 50 (range, 30-74) months. Additional anomalies were diagnosed postnatally in four (15%) of these 26 neonates. The control group was significantly better (P < 0.05) compared with the cases diagnosed prenatally with isolated ACC with respect to gross motor, fine motor, language comprehension, numbers and general development, and it was marginally better for letters (P = 0.066). Seven of 26 (27%) (95% CI, 13-46%) infants with ACC over the age of 30 months had neurodevelopmental delay, compared with only one case with borderline developmental delay among the 44 controls (P = 0.006). CONCLUSION: Prenatal diagnosis of ACC by a combination of ultrasound and MRI is reliable. However, the isolated nature of the anomaly could only be assessed in 85% of our cases. Since counseling is provided at the time of prenatal diagnosis, our population of isolated ACC included the cases that were missed prenatally as being ACC with associated anomalies. A meta-analysis of nine studies suggests that the development of children diagnosed prenatally with isolated ACC is normal in up to 70% (CI 95%, 56-83%) of cases. This means that the prospective risk of neurodevelopmental delay for a fetus with ACC described as isolated prenatally is 27%, compared with 15% for an infant whose diagnosis of isolated ACC is confirmed postnatally.

Dimensionless scaling methods for capillary rise.

In this article the different dimensionless scaling methods for capillary rise of liquids in a tube or a porous medium are discussed. A systematic approach is taken, and the possible options are derived by means of the Buckingham pi theorem. It is found that three forces (inertial, viscous and hydrostatic forces) can be used to obtain three different scaling sets, each consisting of two dimensionless variables and one dimensionless basic parameter. From a general point of view the three scaling options are all equivalent and valid for describing the problem of capillary rise. Contrary to this we find that for certain cases (depending on the time scale and the dominant forces) one of the options can be favorable. Individually the different scalings have been discussed and used in literature previously, however, we intend to discuss the three different sets systematically in a single paper and try to evaluate when which scaling is most useful. Furthermore we investigate previous analytic solutions and determine their ranges of applicability when compared to numerical solutions of the differential equation of motion (momentum balance).

The transition from inertial to viscous flow in capillary rise.

We investigate the initial moments of capillary rise of liquids in a tube. In this period both inertia and viscous flow losses balance the pressure generated by the meniscus curvature (capillary pressure). It is known that the very first stage is purely dominated by inertial forces, where subsequently the influence of viscosity increases (visco-inertial flow). Finally the effect of inertia vanishes and the flow becomes purely viscous. In this study we derive the times and meniscus heights at which the transition between the time periods occur. This is done in an attempt to provide a method to determine a priori which terms of the momentum balance are relevant for a given problem. Analytic solutions known from previous literature are discussed and the time intervals of their validity compared. The predicted transition times and the calculated heights show good agreement with experimental results from literature. The results are also discussed in dimensionless form and the limitations of the calculations are pointed out.

An analytic solution of capillary rise restrained by gravity.

We derive an analytic solution for the capillary rise of liquids in a cylindrical tube or a porous medium in terms of height h as a function of time t. The implicit t(h) solution by Washburn is the basis for these calculations and the Lambert W function is used for its mathematical rearrangement. The original equation is derived out of the 1D momentum conservation equation and features viscous and gravity terms. Thus our h(t) solution, as it includes the gravity term (hydrostatic pressure), enables the calculation of the liquid rise behavior for longer times than the classical Lucas-Washburn equation. Based on the new equation several parameters like the steady state time and the validity of the Lucas-Washburn equation are examined. The results are also discussed in dimensionless form.

The effect of evaporation on the wicking of liquids into a metallic weave.

Wicking of liquids into porous media is of great importance to many applications. One example are propellant management devices (PMD) used in spacecraft tanks. PMDs are designed to ensure gas free delivery of propellant during all acceleration conditions of the flight. This might be achieved by a metallic weave which is wetted by the propellant and thus prevents gas from entering below a critical bubble point pressure. In the case of cryogenic or volatile liquids the weave may dry out and refilling of the structure becomes an important issue. In this study we analyze the wicking of different liquids into a dry Dutch twilled weave (DTW 200 x 1400) by combining experimental and analytical approaches. Experiments were performed under isothermal and terrestrial conditions to investigate the role of evaporation for the capillary rise. The standard wicking model from Lucas and Washburn is enhanced to account for evaporation and gravity effects, too. By comparing the experimental results with the enhanced wicking model we find good qualitative agreement. It is also noted that evaporation may have a major impact on the wicking process.

[Outcome of fetuses with malformations discovered before 14 weeks. Where the discovery is revealed by echography during the first trimester, is it responsible for the voluntary termination of the pregnancy? Comparison before and after July 2001]. / Devenir des foetus présentant une ou plusieurs malformations découvertes avant 14 SA. Ou la découverte d'une malformation à l'échographie du premier trimestre est-elle responsable d'interruption volontaire de grossesse? Comparaison avant/après juillet 2001.

OBJECTIVES: The aims of this study were to review detection of fetal malformations during the first trimester and to study pregnancy and infant outcomes. We wanted to check if the lengthening of the legal delay for volontary termination of pregnancy changes the outcome of the pregnancy, in cases outside of the legal requirements. MATERIALS AND METHODS: This study was overseen by the french college of fetal echography (CFEF). All the cases of abnormality detected before 14 weeks' gestational age, excluding the isolated increased nuchal translucency, were extracted from the total population examined, and details were entered into the database of the French College of Fetal Echography. All case records were then analyzed. We compared two populations: before and after July 2001. RESULTS: We observed 336 fetuses with malformation(s), 108 before July 2001 and 208 after that date. One percent (0.5-1.6) of scans performed between 10 and 14 weeks revealed fetal abnormalities apart from isolated increased nuchal translucency. Of the 336 cases retained for investigation, 109 increased nuchal translucency or hygroma associated with other malformation(s), 103 central nervous system anomalies, 85 malformations of the thoracoabdominal wall, 81 limb abnormalities, 41 had renal malformations, 28 spinal abnormalities, 21 had heart malformations, 16 involved biometric abnormalities, 12 involved abnormalities of the appendages, and 11 facial abnormalities. Medical termination of pregnancy was performed in 75% of cases. Death in utero occurred in 9% of cases, 12% of infants were born alive. In 3.9% of cases, an abortion was performed. There were no differences between both populations before and after July 2001. CONCLUSION: Excluding isolated increased nuchal translucency or hygroma, malformation before 14 weeks' gestational age was detected in 1% of fetuses. The most common malformations detected in the first trimester were non-isolated increased nuchal translucency and malformations of the thoracoabdominal wall and the brain. The prognosis for fetuses with malformations detected during the first trimester was very poor as only 12% of these infants were born alive, some of them with severe malformations. In our study, and given its limitations, there were no differences between the number of voluntary terminations performed before and after July 2001.

French fetal biometry: reference equations and comparison with other charts.

OBJECTIVES: To construct new reference charts and equations for fetal biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC) and femur length (FL), using a large sample of fetuses examined at 15-40 weeks in France, and to compare them with previous references. METHODS: The study data were obtained over a continuous 1-year period from a population of pregnant women undergoing ultrasound examination. Excluded were those with a known abnormal karyotype or congenital malformation, multiple pregnancies, and those with no first-trimester dating based on crown-rump length. No fetuses were excluded on the basis of abnormal biometry or birth weight. For each measurement, separate regression models were fitted to estimate both the mean and the SD at each gestational age. RESULTS: Full biometric measurements were obtained for 19 647 fetuses. New charts and reference equations are reported for BPD, HC, AC and FL. Prediction intervals for the new reference charts were similar to those of previous ones, whereas there were some differences in predicted centiles. CONCLUSION: We present new French reference charts and equations for fetal biometry. They can be used easily to compute centiles and Z-scores to control the quality of biometric assessments and to evaluate their performance relative to other references.