Echogenic Intracardiac Foci

Objective. The purpose of this study was to evaluate the impact of an echogenic intracardiac focus (EIF) on the risk for fetal trisomy 21 (T21) in populations with differing prevalence of T21. Methods. A retrospective cohort study of pregnancies presenting to our prenatal ultrasound units over 16 years (1990–2006) was conducted. Contingency table analysis of the presence of an EIF and diagnosis of fetal T21 was performed. The groups analyzed included the following: (1) all fetuses with EIF plus other sonographic markers, (2) EIF as an isolated sonographic marker, (3) those younger than 35 years with an isolated finding of EIF, and (4) a group with an isolated finding of EIF excluding those at increased risk for T21 on serum screening. Results. Echogenic intracardiac foci were found in 2223 of 62,111 pregnancies (3.6%), and T21 was diagnosed in 218 pregnancies (0.4%). The presence of an EIF along with other markers was associated with a statistically significant risk for T21 (positive likelihood ratio [LR], 4.4; 95% confidence interval [CI], 3.2–6.0; P < .05). An isolated EIF was not associated with a statistically significant increased risk for T21 in patients younger than 35 years (positive LR, 1.7; 95%, CI 0.7–4.1) and those without abnormal serum screening results for aneuploidy (positive LR, 1.6; 95% CI, 0.8–3.1). Conclusions. The finding of an isolated EIF on prenatal sonography does not significantly increase the risk for fetal T21 in populations not otherwise at an increased risk for the disorder. An isolated EIF should be considered an incidental finding in patients younger than 35 years and in those without abnormal serum aneuploidy screening results.     

Second‐Trimester Genetic Sonography After First‐Trimester Combined Screening for Trisomy 21

Objective. The purpose of this study was to evaluate the trisomy 21 screening performance of the first‐trimester combined test followed by second‐trimester genetic sonography. Methods. This retrospective cohort study included all women with singleton pregnancies undergoing combined screening followed by genetic sonography at 17 to 21 weeks from January 1, 2005, to January 31, 2008. Combined test trisomy 21 risks were multiplied by positive or negative likelihood ratios based on the second‐trimester sonographic findings to determine the final trisomy 21 risk. Sonography was evaluated as the second part of (1) a stepwise sequential test applied to combined screen‐negative pregnancies and (2) an integrated test applied to all combined screen patients regardless of the latter results. A final trisomy 21 risk of 1:270 or higher was considered screen‐positive. Results. A total of 2231 pregnancies underwent combined screening, which detected 7 of 8 Down syndrome cases (87.5%) at a 9.6% screen‐positive rate. A total of 884 of these patients (39.6%), including 2 having fetuses with Down syndrome, had genetic sonography. Combined screening detected 1 of these trisomy 21 fetuses (50%) at a 15.7% screen‐positive rate. Integrated ultrasound‐based aneuploidy screening detected both trisomy 21 cases (100%) at a 22.7% screen‐positive rate, whereas stepwise sequential ultrasound‐based aneuploidy screening also detected both trisomy 21 fetuses (100%) but at a 28.3% screen‐positive rate (P < .0001). Conclusions. Second‐trimester genetic sonography after first‐trimester combined screening may improve trisomy 21 detection at the expense of increasing screen‐positive rates.     

Combined use of genetic sonography and maternal serum triple-marker screening: an effective method for increasing the detection of trisomy 21 in women younger than 35 years.

OBJECTIVE: The current standard of practice is to screen women younger than 35 years for trisomy 21 with maternal triple-marker screening, followed by amniocentesis in high-risk (1:10-1:190) patients. Non-high-risk patients are not offered further diagnostic testing. This study was conducted to determine whether genetic sonography of fetuses considered to be at moderate risk (1:190-1:1000) after maternal triple-marker screening increases the detection for trisomy 21, is cost-effective, and reduces the number of amniocenteses required to detect a single fetus with trisomy 21. METHODS: After triple-marker screening, mathematical modeling was used to classify 500,000 theoretical fetuses as high, moderate, or low risk (>1:1001-1:10,000) for trisomy 21. The sensitivity for genetic sonography varied between 60% and 90%, and false-positive rates varied between 5% and 25%. Two programs (I and II) were compared with the control program. The control program included patients with high-risk fetuses (1:10-1:190) who had amniocentesis. Program I consisted of patients in the moderate-risk group (1:191-1:1000) who had genetic sonography followed by amniocentesis only when an abnormal sonographic finding was present. Program II used an approach in which genetic sonography was done for both high- and moderate-risk fetuses, and amniocentesis was performed only when an abnormal sonographic finding was present. RESULTS: When added to the control program, genetic sonography significantly increased the detection rate of Down syndrome (range, 68.1%-77.8% versus 49%), reduced the cost of detection, and resulted in a ratio of fetuses with Down syndrome detected to normal fetuses lost because of amniocentesis of greater than 1 (range, 2.1-4.2). Compared with the control program, program II significantly increased the detection of fetuses with trisomy 21 (range, 56%-72%) when the sensitivity of genetic sonography was >70%, reduced the cost of detection, and had ratios of trisomy 21 detection to normal fetuses lost because of amniocentesis of between 2.38 and 17.88. CONCLUSION: Women younger than 35 years and classified as having moderate risk after triple-marker screening could undergo genetic sonography under 1 of 2 approaches, either of which would result in an increased detection rate of trisomy 21 and be cost-effective without increasing the loss rate of normal fetuses after genetic amniocentesis.     

Reevaluating Humeral Length for the Detection of Fetal Trisomy 21

Objective. The purpose of this study was to analyze humeral length (HL) in a normal population and to compare that with HL in a population of fetuses with trisomy 21 to determine the most efficient discriminating parameters for diagnostic accuracy. Methods. A nested case‐control study comparing HLs from a normal population and a population of fetuses with trisomy 21 was conducted. Humeral length was regressed against gestational age for a consecutive well‐dated population of normal singleton gestations presenting to the Washington University School of Medicine prenatal diagnosis units over a 5‐year period. A second population of well‐dated pregnancies with trisomy 21 diagnosed either prenatally or postnatally was also selected on the basis of the same criteria, except that anomalous fetuses were included. Various discriminating thresholds for a short HL were compared for efficiency in the detection of trisomy 21. These included the following: observed/expected HL (≤ 0.89), biparietal diameter/HL greater than 1.3, 1.4, 1.5, 1.6, 1.7, 1.75, 1.8, and 1.85 SD above the mean for gestation, HL less than 0.8 or less than 0.9 multiple of the median, and HL less than the fifth percentile for gestation. Results. A total of 620 normal pregnancies and 32 with trisomy 21 were extracted from the database. A receiver operating characteristic curve revealed HL less than the fifth percentile as the optimal discriminator for trisomy 21 detection (area under the receiver operating characteristic curve = 0.80). The positive likelihood ratio (LR+) was greatest (25.0) with HL less than the fifth percentile. When HL was considered in isolation without other sonographic markers of trisomy 21, the LR+ was 6.3. Conclusions. Humeral length less than the fifth percentile was the most effective discriminator among the many studied.     

Genetic sonography: an option for women of advanced maternal age with negative triple-marker maternal serum screening results.

OBJECTIVE: To determine whether offering genetic sonography to patients 35 years of age and older with negative maternal serum triple-marker screening results will result in an increase in the detection rate of trisomy 21. METHODS: The detection rate of trisomy 21 was determined in women 35 years of age and older whose pregnancies were managed according to the following 3 policies: policy I, universal amniocentesis; policy II, maternal serum triple-marker screening followed by amniocentesis only in high-risk women (risk >1:190); and policy III, genetic sonography in women with negative maternal serum screening results (policy II). Policy III included the offering of genetic amniocentesis to patients with abnormal genetic sonographic findings. The rate of acceptance of genetic amniocentesis was modeled, as was the sensitivity (50%-90%) and false-positive rate (5%-25%) of genetic sonography. RESULTS: The number of fetuses expected to have trisomy 21 was 784. For patients evaluated under policy II, 86.3% of fetuses with trisomy 21 were detected. On the basis of the detection rate for trisomy 21 of policy II, the addition of fetuses with trisomy 21 identified under policy III was significantly (P < .01) increased (93.2% to 98.6%) for genetic sonographic sensitivities ranging between 50% and 90%. CONCLUSIONS: A policy of offering genetic sonography followed by amniocentesis to patients 35 years of age and older who originally had triple-marker maternal serum screening findings that were negative for the diagnosis of trisomy 21 results in a higher overall detection rate of trisomy 21.     

The value of single umbilical artery in the prediction of fetal aneuploidy: findings in 12,672 pregnant women

OBJECTIVES: To assess the risk of the association of single umbilical artery and aneuploidies. METHODS: In a general unselected obstetric population of 12,672 singleton pregnant women from January 1998 to December 2002, we detected 61 fetuses (prevalence, 0.48%) with single umbilical artery (SUA) on prenatal ultrasound at 16 to 23 menstrual weeks. RESULTS: Among the 61 fetuses with 2-vessel cord, 39 (64%) had SUA as an isolated finding, and 22 (36%) had additional findings, either minor or major. One (2.56%) of the 39 fetuses with SUA as an isolated finding had aneuploidy (trisomy 21 at maternal age of 32 years), whereas 5 (41.6%) of the 12 fetuses with SUA concomitant with major anomalies were aneuploid. None of the 10 fetuses with SUA and minor anomalies had aneuploidy. Among the 12,611 women with 3-vessel cord, we instead found 8 cases of trisomy 21 (0.06%), 1 case of translocation 14-21 (0.007%), 5 cases of trisomy 18 (0.04%), 1 case of trisomy 13 (0.007%), 1 case of 47,XXX (0.007%), and 2 cases of monosomy X (0.01%). CONCLUSIONS: In an unselected population, second trimester sonographic detection of SUA and major fetal anomalies indicate increased risk for fetal aneuploidy. However, even if this study is based on a large population, the only 1 case of trisomy 21 among the fetuses with SUA as an isolated finding is not sufficient to draw a conclusion, and larger studies are needed to confirm or infirm this single case.     

Evaluation of Referral Indications for Fetal Echocardiography in Beijing

Objectives. This study was conducted to evaluate the referral indications for fetal echocardiography (FE) in a tertiary center and to determine which indications were significantly associated with prenatal detection of congenital heart disease (CHD). Methods. The medical records of 1425 consecutive women who underwent second‐ and third‐trimester FE at the Ultrasound Center of Beijing Obstetrics and Gynecology Hospital from March 2003 to December 2007 were reviewed. Referral indications, FE diagnoses, and pregnancy outcomes were collected. Univariate and multivariate logistic regression analyses were performed to identify those referral indications associated with prenatal detection of CHD. Results. In 126 patients (8.8%), CHD was detected prenatally and confirmed postnatally. Logistic regression analysis showed that abnormal cardiac views and extracardiac malformation findings (especially a single umbilical artery) on second‐trimester ultrasound screening were found to have significantly more CHD (P < .001). The adjusted odds ratios were 15.2 (95% confidence interval, 9.85–23.45) and 6.78 (95% confidence interval, 2.38–19.27), respectively. Conclusions. Abnormal cardiac views and extracardiac malformation findings on second‐trimester ultrasound screening were significantly associated with prenatal detection of CHD.     

Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy.

OBJECTIVE: To determine whether sonographic "markers" are associated with fetal Down syndrome during the second trimester and to estimate the degree of risk of individual markers using likelihood ratios. METHODS: Second-trimester (14-20 weeks) sonographic findings in 186 fetuses with trisomy 21 were compared with a control group of 8728 consecutive control fetuses. Six markers were evaluated: nuchal thickening, hyperechoic bowel, shortened femur, shortened humerus, echogenic intracardiac focus, and renal pyelectasis. RESULTS: Major or structural abnormalities were observed in 31 fetuses with trisomy 21 (16.7%) and 53 control fetuses (0.6%) (P< .001). Some type of sonographic finding (major abnormality, minor marker, or both) was observed in 68.8% of fetuses with trisomy 21 compared with 13.6% of control fetuses (P < .001). An isolated minor or "soft" marker was the only sonographic finding in 42 (22.6%) of 186 fetuses with trisomy 21 compared with 987 (11.3%) of 8728 control fetuses (P < .001). Nuchal thickening (P < .001; likelihood ratio, 11) and hyperechoic bowel (P < .001; likelihood ratio, 6.7) showed the strongest association with trisomy 21 as isolated markers, followed by shortened humerus (likelihood ratio, 5.1), echogenic intracardiac focus (likelihood ratio, 1.8), shortened femur (likelihood ratio, 1.5), and pyelectasis (likelihood ratio, 1.5). Echogenic intracardiac focus was the single most common isolated marker in both affected fetuses (7.1%) and control fetuses (3.9%) but carried a low risk (P= .046; likelihood ratio, 1.8). CONCLUSIONS: A single soft marker is commonly encountered during the second trimester among fetuses with trisomy 21. The risk of fetal Down syndrome, reflected by likelihood ratios, was determined for 6 individual markers. This information can be combined with the a priori risk to estimate the individual patient risk for fetal Down syndrome.     

Subsegmental pulmonary embolism diagnosed by computed tomography: incidence and clinical implications. A systematic review and meta‐analysis of the management outcome studies

Summary. Background: Multiple‐detectors computed tomographic pulmonary angiography (CTPA) has a higher sensitivity for pulmonary embolism (PE) within the subsegmental pulmonary arteries as compared with single‐detector CTPA. Multiple‐detectors CTPA might increase the rate of subsegmental PE diagnosis. The clinical significance of subsegmental PE is unknown. We sought to summarize the proportion of subsegmental PE diagnosed with single‐ and multiple‐detectors CTPA and assess the safety of diagnostic strategies based on single‐ or multiple‐detectors CTPA to exclude PE. Patients and methods: A systematic literature search strategy was conducted using MEDLINE, EMBASE and the Cochrane Register of Controlled Trials. We selected 22 articles (20 prospective cohort studies and two randomized controlled trials) that included patients with suspected PE who underwent a CTPA and reported the rate of subsegmental PE. Two reviewers independently extracted data onto standardized forms. Results: The rate of subsegmental PE diagnosis was 4.7% [95% confidence interval (CI): 2.5–7.6] and 9.4 (95% CI: 5.5–14.2) in patients that underwent a single‐ and multiple‐detectors CTPA, respectively. The 3‐month thromboembolic risks in patients with suspected PE and who were left untreated based on a diagnostic algorithm including a negative CTPA was 0.9% (95% CI: 0.4–1.4) and 1.1% (95% CI: 0.7–1.4) for single‐ and multiple‐detectors CTPA, respectively. Conclusion: Multiple‐detectors CTPA seems to increase the proportion of patients diagnosed with subsegmental PE without lowering the 3‐month risk of thromboembolism suggesting that subsegmental PE may not be clinically relevant.     

Embryonic Heart Rate as a Prognostic Factor for Chromosomal Abnormalities

Objective. The purpose of this study was to evaluate the role of a slow embryonic heart rate in embryos before 7 weeks' gestation as a marker in screening for chromosomal abnormalities. Methods. Fifty‐seven embryos before 7 weeks' gestation with slow heart rates were compared with 1156 embryos of the same gestational period with normal heart rates. Embryos that showed an increased risk of chromosomal abnormalities in the screening blood tests underwent invasive analysis for abnormal karyotype detection. Results. The rates of first‐trimester death were 15.8% for pregnancies with slow embryonic heart rates (9 of 57) and 2.5% for those with normal heart rates (29 of 1156). Because of the increased risk of chromosomal abnormalities, amniocentesis was performed on 6 with slow embryonic heart rates and 61 with normal embryonic heart rates. After karyotype analysis, there were 2 fetuses with trisomy 21 in each group, which represented significantly higher percentage of embryos with trisomy 21 in the slow–heart rate group compared with the normal–heart rate group (P < .05). Conclusions. When a slow embryonic heart rate is detected before 7 weeks' gestation, there is a higher likelihood of chromosomal abnormalities.     

Inflammation and coronary angiography in asymptomatic type 2 diabetic subjects

Objective. Coronary artery disease (CAD) is prevalent in patients with type 2 diabetes mellitus (T2DM) and because it is often asymptomatic and extensive in comparison with CAD in subjects without diabetes, it represents a diagnostic challenge. The objective of the study was to investigate the prevalence of CAD in asymptomatic T2DM patients utilizing angiography and to investigate its association with cardiovascular (CV) risk factors, the metabolic syndrome and markers of inflammation. Material and methods. Eighty‐two patients with T2DM without symptoms of CAD, and with ?1 CV risk factor (hypertension, dyslipidaemia, premature familial CAD, smoking or microalbuminuria) underwent a diagnostic stress test and coronary angiography irrespective of stress test results. Stenosis detected in the main coronary arteries ?50% of lumen diameter was categorized as one‐, two‐ or three‐vessel disease. Inflammatory markers were analysed in fasting samples. Results. Fifteen men and two women had significant CAD (21%) (1‐vessel disease, n = 10; 2‐ or 3‐vessel disease, n = 7). Patients with 2‐ or 3‐vessel disease were significantly older and had a longer duration of diabetes, but the prevalence of other traditional CV risk factors or the metabolic syndrome was similar among those with 1‐vessel and those with 2‐ or 3‐vessel disease. Sensitivity for CAD of the stress test was low (0.35). The mean level of the pro‐inflammatory marker interleukin‐6 was elevated in patients with 2‐ to 3‐vessel CAD as compared to patients with no or 1‐vessel CAD (p<0.05). Conclusions. Significant CAD was found in 21% of asymptomatic patients with T2DM with ?1 CV risk factor. Inflammatory markers may be helpful in identifying patients that are likely to have significant CAD, but larger studies are warranted.     

Risk Stratification in Wolff‐Parkinson‐White Syndrome: The Correlation Between Noninvasive and Invasive Testing in Pediatric Patients

Background: In Wolff‐Parkinson‐White (WPW) syndrome, rapid antegrade conduction of atrial tachyarrhythmias can result in ventricular fibrillation and sudden death. Antegrade conduction can be assessed through noninvasive testing or invasive electrophysiology study (EPS). We aimed to determine the correlation between noninvasive testing and EPS in a pediatric WPW population. Methods: All WPW patients <21 years who underwent EPS over a 10‐year period were identified. Noninvasive testing reviewed included electrocardiogram, Holter, and exercise stress test (EST). Patients were classified as low‐risk if preexcitation was lost during any test. EPS data reviewed included antegrade conduction during atrial pacing and atrial fibrillation. Conduction through the accessory pathway (AP) to a cycle length ≤250 ms was considered rapid, otherwise patients were nonrapid. Sensitivity, specificity, positive (PPV), and negative predictive value (NPV) of noninvasive testing to correctly identify nonrapid conduction was calculated. Results: There were 135 EPS. Twenty‐four patients (18%) were classified low‐risk noninvasively. Two of the 24 (8%) had rapid conduction at baseline EPS. The sensitivity, specificity, PPV, and NPV of low‐risk noninvasive testing to predict nonrapid conduction was 22%, 94%, 92%, and 31%, respectively. Sixteen of the 24 had low‐risk EST and none had rapid conduction at baseline EPS. The specificity and PPV of low‐risk EST were 100%. Conclusion: Loss of preexcitation during noninvasive testing had high specificity and PPV for nonrapid antegrade conduction during baseline EPS. Abrupt loss of preexcitation during EST was a highly reliable noninvasive marker of nonrapid AP conduction at baseline in our pediatric WPW patients. (PACE 2012;35:1451–1457)     

Second-trimester biparietal diameter/nasal bone length ratio is an independent predictor of trisomy 21.

OBJECTIVE: The purpose of this study was to evaluate the association between the second-trimester fetal biparietal diameter/nasal bone length (BPD/NBL) ratio and trisomy 21. METHODS: Thirty-one cases of trisomy 21 for which complete ultrasound images included the nasal bone were identified from the University of Washington prenatal diagnosis database and matched to 136 euploid fetuses based on maternal age, indication for referral, and gestational age. RESULTS: The mean NBL was shorter (mean +/- SD, 2.3+/-1.7 mm versus 3.9+/-1.2 mm; P<.001) and the BPD/NBL ratio was greater (17.7 [range, 6.2-114] versus 11.7 [range, 5.8-80]; P<.001) in the fetuses with trisomy 21. The risk of trisomy 21 increased 2.4-fold (95% confidence interval [CI], 1.7-3.4) with every 1-mm decrease in NBL and increased 1.08-fold (95% CI, 1.03-1.12) with each unit increase in the BPD/NBL ratio (P<.001). A multiple logistic regression model was constructed and included the BPD/NBL ratio, maternal indications (age>or=35 years, positive serum screening results, or both, yielding a risk of <1 per 270 for trisomy 21), and sonographic markers as covariates. The BPD/NBL ratio was found to be an independent predictor of trisomy 21 (odds ratio, 1.08; 95% CI, 1.03-1.11). An analysis of receiver operating characteristic curves revealed an improvement after the BPD/NBL ratio was added to a model containing the current second-trimester screening based on maternal age, serum screening, and sonographic markers (receiver operating characteristic curve area, mean +/-SE, 0.89+/-0.03 for the model with the BPD/NBL ratio versus 0.76+/- 0.06 without the BPD/NBL ratio; P=.009). CONCLUSIONS: The second-trimester BPD/NBL ratio was a significant and independent predictor of trisomy 21. An assessment of the BPD/NBL ratio may improve the diagnosis of trisomy 21 when used with current prenatal screening practices.     

Likelihood ratios for fetal trisomy 21 based on nasal bone length in the second trimester: how best to define hypoplasia?

OBJECTIVE: To determine the best measure of fetal nasal bone hypoplasia for trisomy 21 risk assessment in the second trimester. METHODS: This was a prospective, observational study performed at a single institution between February 2003 and December 2005. Fetuses with nasal bone length recorded sonographically between 16 and 20.9 weeks and known karyotype were included. Definitions of nasal bone hypoplasia assessed included: non-visualized nasal bone, nasal bone < 10th percentile, nasal bone < 2.5th percentile, biparietal diameter/nasal bone ratio >or= 10 and >or= 11 and nasal bone multiples of the median (MoM) 相似文献   

Improving the safety of continuously infused fluids in the emergency department

When an unexpected crisis happens to patients with multiple continuous infusion fluids in the emergency department (ED), nurses need to recognize specific medication promptly and accurately for appropriate action. This study aims to evaluate the efficiency of colour‐coded label system in ED fluids during an uneventful crisis simulation event. Promptness and accuracy of finding the correct fluid between the pre‐ and postintervention in each three groups (emergency nurses, intensive care unit nurses and nursing students) for three different scenarios (potassium, heparin and normal saline scenario) were assessed. Time improvement for all three groups from pre‐ to postintervention for all three scenarios were statistically significant (P < 0.001). There were no incorrect fluids indicated by all three groups of participants at postintervention analysis. Colour‐coded labelling system in a simulated environment significantly improved the promptness and accuracy of finding the correct fluid from multiple infused continuous fluids.     

Sequential triage in the first trimester may enhance advanced ultrasound scanning in population screening for trisomy 21.

OBJECTIVE: To design a trisomy 21 screening protocol for sequential triage in the first trimester, and to evaluate whether it reduces the need for advanced ultrasound scanning to such an extent that this could be dealt with by a limited number of well-trained sonographers only. METHODS: Screening results of 31 trisomy 21 affected pregnancies and 16 096 unaffected pregnancies from the first trimester screening program of Algemeen Medisch Laboratorium in Antwerp, Belgium, were used to define high-risk, intermediate-risk and low-risk groups. A serum screening result (age, pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (beta-hCG)) of >or=1 : 30 and/or a nuchal translucency thickness (NT) measurement of >or= 3.5 mm were classified as high risk. A serum screening result of < 1 : 1000 together with an NT of < 3.5 mm were classified as low risk. Other results were considered intermediate risk, for which further advanced ultrasound screening would be indicated. This protocol was then evaluated prospectively in another population of 13 493 first-trimester pregnancies. RESULTS: Of the total population, 1.9% was identified as being high risk (14 trisomy 21 pregnancies and 222 unaffected pregnancies; prevalence, 1 : 17), 59.6% was identified as being low risk (three trisomy 21 pregnancies and 9615 unaffected pregnancies; prevalence, 1 : 3206) and 38.4% was identified as being intermediate risk (10 trisomy 21 pregnancies and 6190 unaffected pregnancies; prevalence, 1 : 620). A similar distribution was found in the prospective arm of the study. There was no reduction of overall screening performance compared with our current first-trimester combined screening program. The number of intermediate-risk pregnancies was sufficiently low as to enable advanced ultrasound scanning by well-trained sonographers only. CONCLUSION: In population screening for fetal trisomy 21, sequential triage in the first trimester can be achieved using very simple methods. Pregnancies at high or at low risk can be identified easily and the number of pregnancies at intermediate risk can be reduced sufficiently to enable advanced ultrasound scanning by well-trained sonographers only. A prospective study is needed to evaluate the performance of this approach and to compare its results with current combined or integrated screening algorithms.     

Quality of life in asymptomatic children and adolescents before and after diagnosis of hypertrophic cardiomyopathy through family screening

Aims and objectives. The aim of this study was to measure quality of life (QoL) in asymptomatic children with hypertrophic cardiomyopathy (HCM) before and after diagnosis. Background. Hypertrophic cardiomyopathy is a disease with a 50% risk of inheritance. Children at risk for serious complications can be diagnosed early with family screening, but before embarking on a screening programme, it is important to evaluate the psychosocial consequences of such screening. Design. Prospective case‐control study. Methods. Quality of life was measured using a questionnaire by Lindström incorporating both objective and subjective aspects of the three spheres: external, interpersonal and personal, before and two years after diagnosis. The study group consisted of 13 children/adolescents (11 boys), median age 11 (5–18) years, with HCM diagnosed at family screening. All filled out a questionnaire before diagnosis and at follow‐up. 41 healthy children/adolescents (22 boys), median age 11 (2–19) years with a first‐degree relative diagnosed with HCM served as controls; 15/41 also completed follow‐up data. Results. The total QoL score for all spheres was similar in both groups at baseline and follow‐up. In the interpersonal sphere, it was more common that children diagnosed with HCM had no siblings both at baseline (p = 0·002) and follow‐up (p = 0·005). The family situation, social support and life events were unchanged from baseline to follow‐up. Children with HCM had significantly more psychosomatic symptoms compared with controls at baseline (p < 0·05) but not at follow‐up. Self‐esteem, peer acceptance and satisfaction with school were unchanged and similar between groups. Conclusion. Family screening for HCM does not appear to negatively influence QoL. Relevance to clinical practice. This study indicates that family screening of asymptomatic children and adolescents had no significant detrimental effects on QoL. This suggests that the benefits of finding symptomatic individuals at risk for serious complications outweigh concerns about screening asymptomatic individuals.     

Sonographic Findings in Trisomy 9

Objective. The purpose of this study was to identify the most common prenatal sonographic findings in fetuses with complete trisomy 9. Methods. A retrospective review of all cases of trisomy 9 at 5 participating institutions over a 15‐year interval was conducted. Indications for referral and sonographic findings in each case were reviewed to identify characteristic fetal structural anomalies. Results. Six cases of trisomy 9 are presented. Most patients were referred for abnormal sonographic findings on screening examinations (66%) or advanced maternal age (33%). Fetal heart defects and central nervous system malformations were the most frequent sonographic anomalies seen. Conclusions. Sonographic findings in trisomy 9 are similar to those found in other autosomal trisomies. Because trisomy 9 is uniformly lethal and is not included as part of the standard prenatal aneuploidy screening by fluorescence in situ hybridization analysis, clinicians should be cautious in counseling patients with structurally abnormal fetuses until the full karyotype is available.     

产前超声评估胎儿颜面轮廓及相关遗传学疾病

目的 探讨产前超声评估胎儿颜面轮廓的可行性及对胎儿遗传学疾病的提示价值.方法 应用产前二维及三维超声观察20胎胎儿的颜面正中矢状面,评估颜面轮廓异常,并与染色体分析结果进行对照.结果 发现9胎21-三体、4胎18-三体、1胎13-三体和1胎4p-,5胎染色体正常.20胎中,鼻骨缺失或发育不良共8胎(6胎21-三体,2胎染色体正常);鼻前组织增厚9胎(8胎21-三体,1胎4p-);小下颌8胎(4胎18-三体,1胎21-三体,1胎13-三体,1胎4p-及1胎染色体正常);颜面扁平5胎(2胎21-三体,2胎Larsen综合征,1胎染色体正常);上颌前突2胎(1胎13-三体,1胎18-三体).结论 颜面正中矢状面有助于提示胎儿染色体异常及遗传综合征,其中鼻骨及下颌评估对21-三体及18-三体的提示意义明确,可作为中孕期筛查的常规内容.     

Screening and Brief Intervention to Reduce Marijuana Use Among Youth and Young Adults in a Pediatric Emergency Department

Objectives: Marijuana was involved in 209,563 emergency department (ED) visits in 2006, according to the Drug Abuse Warning Network. Although screening and brief intervention (SBI) has been effective in changing drinking among ED patients in a number of studies, tests of marijuana SBI in a pediatric emergency department (PED) have not yet been reported. The aim of this pilot study was to test whether SBI is effective in reducing marijuana consumption among youth and young adults presenting to a PED with a diverse range of clinical entities. Methods: A three‐group randomized controlled preliminary trial was structured to test 1) differences between Intervention (Int) and standard Assessed Control (AC) groups in marijuana consumption, from baseline to 12 months, and 2) the feasibility of adding a Nonassessed Control (NAC) group to evaluate regression to the mean and assessment reactivity. Patients aged 14–21 years in an urban, academic PED were screened during 2006–2007, using standardized risk factor questions. Subjects were eligible if they used marijuana three or more times in the past 30 days, but were excluded for co‐occurring high‐risk alcohol use. Consented enrollees were randomized to NAC, AC, and Int groups in a two‐stage process that permitted blinding to status during assessment and follow‐up. NACs received a resource handout, written advice about marijuana use risks, and a 12‐month follow‐up appointment. ACs were assessed using standardized instruments and received resources, written advice, and 3‐ and 12‐month follow‐up appointments. The Int group received assessment, resources, written advice, 3‐ and 12‐month appointments, a 20‐minute structured conversation conducted by older peers, and a 10‐day booster telephone call. A peer educator utilized a motivational style interview protocol adapted for adolescents to elicit daily life context and future goals, provide feedback, review pros and cons of marijuana use, assess readiness to change, evaluate strengths and assets, negotiate a contract for change, and make referrals to treatment and/or other resources. Measurements included demographic information; 30‐day self‐report of marijuana use; attempts to quit, cut back, or change conditions of use; and risk factor questions repeated at follow‐up. Results: Among 7,804 PED patients screened, 325 were eligible; 210 consented and enrolled (Int, n = 68; AC, n = 71; NAC, n = 71), with a 12‐month follow‐up rate of 71%. For the primary objective, we compared Int to AC. At 12 months, Int participants were more likely to be abstinent for the past 30 days than ACs (odds ratio [OR] for reported abstinence = 2.89, 95% confidence interval [CI] = 1.22 to 6.84, p < 0.014). The Int group had greater reduction in days used, baseline to 12 months, controlling for baseline (Int = –7.1 vs. AC = –1.8), were less likely to have been high among those who smoked (OR = 0.39, 95% CI = 0.17 to 0.89, p < 0.05), and were more likely to receive referrals. In a linear regression model controlling for baseline use, NACs smoked 4 fewer days per month than ACs, but consumption was not significantly different, suggesting no assessment reactivity effect. Conclusions: A preliminary trial of SBI promoted marijuana abstinence and reduced consumption among PED patients aged 14–21 years. A no‐contact condition for the NAC group over the year after enrollment was insufficient to capture enrollees for follow‐up across a range of baseline acuity.