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OBJECTIVE: To assess prospectively the risk of fetal loss associated with chorionic villus sampling (CVS) and amniocentesis (AC) following combined first-trimester screening (cFTS) for Down syndrome.METHODS: This was a nationwide population-based study (Danish Fetal Medicine Database, 2008-2010) including 147 987 women with singleton pregnancy who underwent cFTS. Propensity score stratification was used to assess the risk of fetal loss with and without invasive testing. Analyses were performed between 3 and 21 days after cFTS for CVS and between 28 and 42 days after cFTS for AC. Results are reported as average risk differences with 95% CIs.RESULTS: The risks of miscarriage and stillbirth were not higher in women exposed to CVS or AC compared with unexposed women, independent of the analysis time-point. The average effect of CVS on risk of miscarriage was -0.08% (95% CI, -0.64; 0.47) at 3 days and -0.21% (95% CI, -0.58; 0.15) at 21 days after cFTS, while the effect on risk of stillbirth was -0.18% (95% CI, -0.50; 0.13) at 3 days and -0.27% (95% CI, -0.58; 0.04) at 21 days after cFTS. Regarding the effect of AC on risk of miscarriage, the analysis at 28 days after cFTS showed an average effect of 0.56% (95% CI, -0.21; 1.33), while the effect on risk of stillbirth was 0.09% (95% CI, -0.39; 0.58) at 42 days after cFTS.CONCLUSION: Neither CVS nor AC was associated with increased risk of miscarriage or stillbirth. These findings indicate that the procedure-related risk of CVS and AC is very low.

OBJECTIVES: The objective of this article is to investigate normal prenatal maxillary length using 3D ultrasound and to correlate this with previously reported results for the mandible and the biparietal diameter (BPD).METHODS: Seventy-two 3D ultrasound volumes from normal pregnancies in 52 volunteers (gestational age: 11-26 weeks) were obtained using a GE Voluson 730 Expert 3D scanner. Maxillary length and BPD were measured. Growth velocity and rate were calculated. Maxillary values were correlated with BPD and previously reported mandibular values.RESULTS: The mean total maxillary length ranged from 7.4 ± 2.7 mm at 11 weeks to 33.1 ± 2.7 mm at 26 weeks. Maxillary growth velocity can be described using a linear model. The correlation between maxillary and mandibular length, and BPD was high (R = 0.85-0.88). There was no statistically significant difference in the growth velocity between maxilla and mandible, whereas the velocity of the increase in BPD growth was significantly larger than that of the jaws. However, the growth rate was larger for the jaws than for the BPD.CONCLUSIONS: Normative measures for the maxilla in 11- to 26-week-old fetuses are presented. Change in maxillary length was described using a linear model. The maxillary and mandibular growth velocities and rates were similar but differ from those of the BPD.

Background: In the front line in cancer care is to systematically integratepatient reported outcomes (PRO) in clinical practice. The development ofthis research program is based on The Participatory Care Model, and buildson how patients can be integrated in their care. The aim is to evaluate the effects of an interactive e-health solution for assessment of symptom burden, generating instant self-care advice and instant access to health care professionals. Methods: The hypothesis is that the intervention promotes safe and participatory care and thereby improves clinical management and health care costs. The experimental multicenter studies incorporate a mixedmethod approach. Ongoing studies include patients with pancreatic and prostate cancer using the mobile phone application in comparison to control groups in standard care. Outcomes are collected before and after treatment by questionnaires concerning capacity to understand, communicate health needs and promote healthy behaviors (health literacy), symptom burden and management and quality of life and from records and registers about disease progress and health care costs. Interviews concern participatory and meaningful care. Studies are ongoing for patients with prostate and pancreatic cancer and elderly populations living at home or in care homes. Results: By using technology patients are able to communicate symptoms and receive instant support while cared for on an outpatient basis and at the same time feel reassured that their condition is monitored by health care professionals facilitating safe and participatory care., Special Session (Mon, 30 Sep, 13:15−14:15)Symptom Management via the Internet:274 Symptom management for cancer patients via mobile phones

Introduction: For immediate and continuous dialogue between patients and caregivers new approaches in modern technology are encouraged today. In cooperation with a Swedish health management company, we developed an interactive mobile phone application for the assessment of symptom distress, evidence-based self-care advice and an alerting function of severe symptoms with instant access to professionals in real time. By using this technique patients can communicate symptoms with instant support while cared for out-side hospital but at the same time reassured that their condition is monitored by the professionals. The objective of this study was to evaluate the feasibility and acceptability of the application for patients with prostate cancer during radiotherapy and for the involved health care staff. Material and Methods: Evidence-based symptoms and related selfcareadvices were implemented in the application after literature review and interviews with patients and health care professionals. Nine patients diagnosed with prostate cancer undergoing radiotherapy treatment were recruited to test the application for two weeks. The patients reported in the electronic symptom questionnaire daily. After the two weeks they were interviewed about their experience. Nurses directly involved in the care and treatment of the participating patients were interviewed at the end of study. Results: Overall, patients and nurses reported positive experiences of using the mobile phone system. The patients considered the application helpful and easy to use although there were some suggestions for further development of the electronic questionnaire. Most of the patients had read the self-care advice and found them useful. The alerting system was activated in several cases; the nurses found it useful to identify and manage problematic symptoms early and the patients felt safe and well cared for. Some of the nurses considered the monitoring system time-consuming and made suggestions for improve, Volume 49, Supplement 2, September 2013, Pages S154–S297, POSTER 1342

To compare the standard first trimester combined risk assessment for trisomy 21 with a contingent screening protocol including tricuspid flow and ductus venosus flow.

The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndromes and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting.

Objectives: Our aim was to evaluate the effect of fetal sex, smoking and body mass index (BMI) on nuchal translucency (NT). Methods: We analyzed data from 7,357 women with a normal singleton live birth outcome with information on smoking, BMI and sex of the infant. NT measurements were converted to multiples of the median (MoM(NT)) using a previously reported linear regression analysis. Results: The odds ratio (OR) for MoM(NT) >95th centile was 1.5 (95% CI 1.2-1.9) for smokers compared to nonsmokers and 1.4 (95% CI 1.1-1.7) for male fetuses compared to female fetuses. Obese women (BMI >/=30) had an increased OR for a large NT of 1.7 (95% CI 1.2-2.6) compared to normal weight women. Obese smokers carrying a male fetus had an OR of 4.2 (95% CI 1.7-10.1) of a MoM(NT) >95th centile compared to normal weight nonsmoking women with a female fetus. The effects of smoking, obesity status and fetal sex were independent of each other. Conclusions: Smoking, obesity and male sex are associated to a MoM(NT) >95th centile. This may affect screening performance and entail unnecessary anxiety in these women. Further investigations, including fetuses with adverse outcome, are needed.

We examine 14 cases of an interesting type of extremely high latitude aurora as identified in the precipitating particles measured by the DMSP F13 satellite. In particular we investigate structures within large-scale arcs for which the particle signatures are made up of a group of multiple distinct thin arcs. These cases are chosen without regard to IMF orientation and are part of a group of 87 events where DMSP F13 SSJ/4 measures emissions which occur near the noon-midnight meridian and are spatially separated from both the dawnside and duskside auroral ovals by wide regions with precipitating particles typical of the polar cap. For 73 of these events the high-latitude aurora consists of a continuous region of precipitating particles. We focus on the remaining 14 of these events where the particle signatures show multiple distinct thin arcs. These events occur during northward or weakly southward IMF conditions and follow a change in IMF B-y. Correlations are seen between the field-aligned currents and plasma flows associated with the arcs, implying local closure of the FACs. Strong correlations are seen only in the sunlit hemisphere. The convection associated with the multiple thin arcs is localized and has little influence on the large-scale convection. This also implies that the sunward flow along the arcs is unrelated to the overall ionospheric convection., QC 20100525

Udgivelsesdato: 2009-Dec, OBJECTIVE: To evaluate whether high-resolution comparative genomic hybridization (HR-CGH) and subtelomeric and syndrome-specific multiplex ligation-dependent probe amplification (MLPA) would detect minor chromosomal aberrations in fetuses with increased nuchal translucency thickness (NT) and normal karyotype on conventional karyotyping. METHODS: Chorionic villus samples from 100 fetuses with NT > or = 99(th) percentile and normal G-banding analysis and MLPA for detection of aneuploidies for chromosomes 13, 18, 21, X and Y were included. Examinations were supplemented by HR-CGH and MLPA for syndromes and subtelomeric regions. Pregnancy outcome was followed up. RESULTS: Among 80 liveborn children who were followed up, three (4%) had syndromes involving mental retardation, including a case of Sotos syndrome caused by a de novo mutation. 15% of fetuses were lost during pregnancy due to abnormalities and termination. The rate of adverse outcome overall was 18%. HR-CGH and MLPA did not detect any chromosomal aberrations associated with the syndromes. CONCLUSION: The rate of adverse outcome was similar to levels recorded in the literature. Using CGH and MLPA did not increase the detection rate of genetic disease, which supports the current approach of repeated ultrasound examinations in these high-risk pregnancies.

Udgivelsesdato: 2009-null, A 34-year-old Caucasian woman with cleidocranial dysplasia (CCD) and a known family history of CCD was referred for an ultrasound examination in the first trimester of her second pregnancy. Molecular genetic analysis of the RUNX2 gene was non-informative. A routine 2D ultrasound examination carried out at a local hospital at gestational age 12 weeks showed no signs of CCD. A 3D ultrasound examination in week 15+4 showed a fetus with typical CCD features including large fontanelles, lack of nasal bones, clavicles without the typical S-form, as well as severe delay in calvarial ossification, especially in the midline. Serial 3D ultrasound examinations during pregnancy confirmed the diagnosis, and over time the manifestations became even more distinct. The diagnosis was clinically confirmed at birth. This case suggests that the typical craniofacial CCD traits, including wide unmineralized areas in the calvarial midline and missing nasal bones, are easily recognizable using 3D ultrasound as early as in week 15.

Black spine, Cleido-Cranial Dysplasia

Elcidocranial dysplasia

The magnetospheric response at times when sudden increases in the solar wind dynamic pressure cause terrestrial magnetic storms has been studied with data from the pulsation magnetometer at the South African Antarctic research base, SANAE IV. For solar wind events that lead to a sudden increase in the terrestrial magnetic field at Hermanus and Kakioka, related pulsations were found in the SANAE IV data. We studied seven solar wind events of special interest between 19 February 2003 and 18 February 2004. The events can be divided into two main pulsation groups: one group had a well-defined frequency and a duration of about 15 minutes, whereas the other had a less well-defined frequency content, longer duration and exhibited large amplitude fluctuations. The analysis confirms the conclusion that the measured response time of the magnetosphere to disturbances in the solar wind is broadly consistent with the propagation speed of magneto-hydrodynamic waves driven by solar wind dynamic pressure., QC 20100525

Recently, we described a new in vivo pathway in the metabolism of benzo[a]pyrene (BP) that involves an opening of the aromatic ring system. One of the products of this pathway, isolated from rat urine, was the anhydride of 7-oxo-benz[d]anthracene-3,4-dicarboxylic acid (ABADA). We have now investigated the effect of ABADA on several cellular targets, known to be important in tumor formation. ABADA was as efficient as BP-7,8-diol-9,10-epoxide in inducing direct strand breaks but not alkali labile sites in DNA in HT-29 cells and exhibited weak mutagenic activity in Salmonella typhimurium strain TA 102. The cytotoxicity of ABADA to HCT 116 cells appeared to be due to apoptosis, as caspase-3 activity and poly-ADP-ribose polymerase (PARP) cleavage was observed. COX-2 promoter activity was induced by ABADA in HCT 116 cells. In conclusion, this novel metabolic pathway may also be contributing to the carcinogenicity of BP.