Investigating the nature and quality of locally commissioned evaluations of the NHS Vanguard programme: an evidence synthesis.

BACKGROUND: With innovation in service delivery increasingly viewed as crucial to the long-term sustainability of health systems, NHS England launched an ambitious new model of care (Vanguard) programme in 2015. Supported by a £350 million transformation fund, 50 Vanguard sites were to act as pilots for innovation in service delivery, to move quickly to change the way that services were delivered, breaking down barriers between sectors and improving the coordination and delivery of care. METHODS: As part of a national evaluation of the Vanguard programme, we conducted an evidence synthesis to assess the nature and quality of locally commissioned evaluations. With access to a secure, online hub used by the Vanguard and other integrated care initiatives, two researchers retrieved any documents from a locally commissioned evaluation for inclusion. All identified documents were downloaded and logged, and details of the evaluators, questions, methodological approaches and limitations in design and/or reporting were extracted. As included evaluations varied in nature and type, a narrative synthesis was undertaken. RESULTS: We identified a total of 115 separate reports relating to the locally commissioned evaluations. Five prominent issues relating to evaluation conduct were identified across included reports: use of logic models, number and type of evaluation questions posed, data sharing and information governance, methodological challenges and evaluation reporting in general. A combination of resource, data and time constraints means that evaluations often attempted to but did not fully address the wide range of questions posed by individual Vanguards. CONCLUSIONS: Significant investment was made in independent local evaluations of the Vanguard programme by NHS England. This synthesis represents the only comprehensive attempt to capture methodological learning and may serve as a key resource for researchers and policy-makers seeking to understand investigating large-scale system change, both within the NHS and internationally. PROSPERO (Registration number: CRD42017069282).

Chromosomal microarray detects genetic risks of neurodevelopmental disorders in newborns with congenital heart disease.

OBJECTIVE: To compare the genetic testing results of neonates with CHD by chromosomal microarray to karyotyping and fluorescence in situ hybridisation analysis. METHODS: This was a single-centre retrospective comparative study of patients with CHD and available genetic testing results admitted to the cardiac ICU between January, 2004 and December, 2017. Patients from 2004 to 2010 were tested by karyotyping and fluorescence in situ hybridisation analysis, while patients from 2012 to 2017 were analysed by chromosomal microarray. RESULTS: Eight-hundred and forty-nine neonates with CHD underwent genetic testing, 482 by karyotyping and fluorescence in situ hybridization, and 367 by chromosomal microarray. In the karyotyping and fluorescence in situ hybridisation analysis group, 86/482 (17.8%) had genetic abnormalities detected, while in the chromosomal microarray group, 135/367 (36.8%) had genetic abnormalities detected (p < 0.00001). Of patients with abnormal chromosomal microarray results, 41/135 (30.4%) had genetic abnormality associated with neurodevelopmental disorders that were exclusively identified by chromosomal microarray. Conotruncal abnormalities were the most common diagnosis in both groups, with karyotyping and fluorescence in situ hybridisation analysis detecting genetic abnormalities in 26/160 (16.3%) patients and chromosomal microarray detecting abnormalities in 41/135 (30.4%) patients (p = 0.004). In patients with d-transposition of the great arteries, 0/68 (0%) were found to have genetic abnormalities by karyotyping and fluorescence in situ hybridisation compared to 7/54 (13.0%) by chromosomal microarray. CONCLUSIONS: Chromosomal microarray identified patients with CHD at genetic risk of neurodevelopmental disorders, allowing earlier intervention with multidisciplinary care and more accurate pre-surgical prognostic counselling.

Application of the Pediatric Appropriate Use Criteria for Chest Pain.

OBJECTIVES: To characterize the subgroup of outpatient pediatric patients presenting with chest pain and to determine the effectiveness of published pediatric appropriate use criteria (PAUC) to detect pathology. STUDY DESIGN: The Pediatric Appropriate Use of Echocardiography study evaluated the use and yield of transthoracic echocardiography (TTE) before and after PAUC release. Data were reviewed on patients ?18 years of age who underwent TTE for chest pain. Indications were classified as appropriate (A), may be appropriate (M), and rarely appropriate (R) based on PAUC ratings, and findings were normal, incidental, or abnormal. RESULTS: Chest pain was the primary indication in 772 of 4562 outpatient TTE studies (17%) (median age 14 years, IQR 10-16) ordered during the study period: 458 of 772 before (59%) and 314 of 772 after (41 %) the release of PAUC with no change in appropriateness. In A indications (n?=?654), 642 (98%) were normal, 5 (1%) had incidental findings, and 7 (1%) were abnormal. A and M detected 100% of all abnormal findings (A: n?=?7; M: n?=?6; R: n?=?0), with an association between ratings and findings (P?<.001). There was no association between R rating and any pathology. CONCLUSIONS: There was no change in ordering patterns with publication of the PAUC. Despite the high rate of TTEs ordered for indications rated A, most studies were normal. Studies that detected pathology were performed for indications rated A or M, but not R. This study supports PAUC as a useful tool in pediatric chest pain evaluation that may subsequently improve the use of TTE.

Application of pediatric appropriate use criteria for initial outpatient evaluation of syncope.

BACKGROUND: Syncope is a common reason for outpatient transthoracic echocardiography (TTE). We studied the applicability of pediatric appropriate use criteria (AUC) on initial outpatient evaluation of children (≤18 years) with syncope. METHODS: Data were obtained before (Phase I, April-September 2014) and after (Phase II, January-April 2015) the release of the AUC document from six participating pediatric cardiology centers. Site investigators determined the indication for TTE and assigned appropriateness rating based on the AUC document: Appropriate (A), May Be Appropriate (M), Rarely Appropriate (R), or "unclassifiable" (U) if it did not fit any scenario in the AUC document. RESULTS: Of the total 4562 TTEs, 310 (6.8%) were performed for syncope: 174/2655 (6.6%) Phase I and 136/1907 (7.1%) Phase II, P=.44. Overall, 168 (50.5%) were for indications rated A, 63 (18.9%) for M, 79 (23.7%) for R, and 23 (6.9%) for U. Release of AUC did not change the appropriateness of TTEs [A=51.6% vs 49.0%, P=.63, R=20.2% vs 28.3%, P=.09]. Overall syncope-related R indications formed 15.7% of R indications for all the echocardiograms performed in the entire Pediatric Appropriate Use (PAUSE) study (11.9% Phase I and 22.4% Phase II, P=.002). TTEs were normal in majority of the patients except 7 that had incidental findings. CONCLUSIONS: In conclusion, syncope is a common reason for indications rated R and release of the AUC document did not improve appropriate utilization of TTE in syncope. Targeted educational interventions are needed to reduce unnecessary TTEs in children with syncope.

The acceptability and feasibility of using the Adult Social Care Outcomes Toolkit (ASCOT) to inform practice in care homes.

BACKGROUND: The Adult Social Care Outcomes Toolkit (ASCOT) measures social care related quality of life (SCRQoL) and can be used to measure outcomes and demonstrate impact across different social care settings. This exploratory study built on previous work by collecting new inter-rater reliability data on the mixed-methods version of the toolkit and exploring how it might be used to inform practice in four case study homes. METHOD: We worked with two care home providers to agree an in-depth study collecting SCRQoL data in four case-study homes. Data was collected about residents' age, ethnicity, cognitive impairment, ability to perform activities of daily living and SCRQoL in the four homes. Feedback sessions with staff and managers were held in the homes two weeks after baseline and follow-up data collected three months later. Interviews with managers explored their views of the feedback and recorded any changes that had been made because of it. RESULTS: Participant recruitment was challenging, despite working in partnership with the homes. Resident response rates ranged from 23 to 54 % with 58 residents from four care homes taking part in the research. 53 % lacked capacity to consent. Inter-rater reliability for the ASCOT ratings of SCRQoL were good at time one (IRR = 0.72) and excellent at time two (IRR = 0.76). During the study, residents' ability to perform activities of daily living declined significantly (z = -2.67, p < .01), as did their expected needs in the absence of services (z = -2.41, p < .05). Despite these rapid declines in functionings, residents' current SCRQoL declined slightly but not significantly (Z = -1.49, p = .14). Staff responded positively to the feedback given and managers reported implementing changes in practice because of it. CONCLUSION: This exploratory study faced many challenges in the recruitment of residents, many of whom were cognitively impaired. Nevertheless, without a mixed-methods approach many of the residents living in the care homes would have been excluded from the research altogether or had their views represented only by a representative or proxy. The value of the mixed-methods toolkit and its potential for use by providers is discussed.

Adapting the adult social care outcomes toolkit (ASCOT) for use in care home quality monitoring: conceptual development and testing.

BACKGROUND: Alongside an increased policy and practice emphasis on outcomes in social care, English local authorities are now obliged to review quality at a service level to help in their new role of ensuring the development of diverse and high-quality care markets to meet the needs of all local people, including self-funders. The Adult Social Care Outcomes Toolkit (ASCOT) has been developed to measure the outcomes of social care for individuals in a variety of care settings. Local authorities have expressed an interest in exploring how the toolkit might be used for their own purposes, including quality monitoring. This study aimed to explore how the care homes version of the ASCOT toolkit might be adapted for use as a care home quality indicator and carry out some preliminary testing in two care homes for older adults. METHODS: Consultations were carried out with professional and lay stakeholders, with an interest in using the tool or the ratings it would produce. These explored demand and potential uses for the measure and fed into the conceptual development. A draft toolkit and method for collecting the data was developed and the feasibility of using it for quality monitoring was tested with one local authority quality monitoring team in two homes for older adults. RESULTS: Stakeholders expressed an interest in care home quality ratings based on residents' outcomes but there were tensions around who might collect the data and how it might be shared. Feasibility testing suggested the measure had potential for use in quality monitoring but highlighted the importance of training in observational techniques and interviewing skills. The quality monitoring officers involved in the piloting recommended that relatives' views be collected in advance of visits, through surveys not interviews. CONCLUSIONS: Following interest from another local authority, a larger evaluation of the measure for use in routine quality monitoring is planned. As part of this, the ratings made using this measure will be validated against the outcomes of individual residents and compared with the quality ratings of the regulator, the Care Quality Commission.

Testing the role of charge and structure on the stability of peptide-porphyrin complexes.

This study aims to extend a structural and biophysical understanding of a coiled-coil based peptide model system that serves as a scaffold for the anionic porphyrin, TPPS4. This is part of an ongoing biomaterials effort to create photoelectronically active mesoscale fibrils for surface deposition and characterization of conductivity properties. The goals are two-fold: (1) to explore optimal basic side-chain moieties for tight binding to TPPS4 and (2) to test the binding of various metalated TPPS4 derivatives to our peptide model system. The latter goal is to control the electronic and redox properties of the fibrillar biomaterials. A soluble version of the peptide biomaterial was used in order to probe binding and to extract thermodynamically rigorous equilibrium binding constants. UV-visible spectroscopy and circular dichroism spectropolarimtery are used to measure the effects of binding on the Soret band of the porphyrin and the helical signal of the peptide, respectively. For the first study, it was found that lysine, ornithine, and arginine are equally robust at engaging TPPS4 with low micromolar binding affinity. In the case of the metalated porphyrins, submicromolar binding affinity was observed for Cu(II), Ni(II), and Pd(II). The ability of these metalated porphyrins to bind with high affinity is dependent largely on structural perturbations of the porphyrin molecule, rather than on induced electronic effects.

Quality of life outcomes for residents and quality ratings of care homes: is there a relationship?

BACKGROUND: quality ratings of care homes are used by decision makers in the absence of direct information about outcomes. However, there is little evidence about the relationship between regulators' ratings of homes and residents' quality of life outcomes. OBJECTIVES: to capture social care-related quality of life (SCRQoL) outcomes for residents and investigate the relationship between outcomes and regulator quality ratings of homes. METHODS: data were collected for 366 residents of 83 English care homes for older people inspected during 2008. Outcomes were measured using the Adult Social Care Outcomes Toolkit (ASCOT). Multivariate multilevel modelling was used to investigate the relationship between quality of life outcomes and star ratings of homes, controlling for resident and home characteristics. RESULTS: care homes were delivering substantial gains in SCRQoL, but were more successful in delivering 'basic' (e.g. personal cleanliness) than higher-order domains (e.g. social participation). Outcomes were associated with quality ratings of residential homes but not of nursing homes. CONCLUSIONS: the approach to providing quality ratings by the regulator in England is currently under review. Future quality indicators need to demonstrate their relationship with quality of life outcomes if they are to be a reliable guide to commissioners and private individuals purchasing care.

Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons.

Disruption of endolysosomal and autophagy-lysosomal systems is increasingly implicated in neurodegeneration. Sodium-proton exchanger 6 (NHE6) contributes to the maintenance of proper endosomal pH, and loss-of function mutations in the X-linked NHE6 lead to Christianson syndrome (CS) in males. Neurodegenerative features of CS are increasingly recognized, with postmortem and clinical data implicating a role for tau. We generated cortical neurons from NHE6 knockout (KO) and isogenic wild-type control human induced pluripotent stem cells. We report elevated phosphorylated and sarkosyl-insoluble tau in NHE6 KO neurons. We demonstrate that NHE6 KO leads to lysosomal and autophagy dysfunction involving reduced lysosomal number and protease activity, diminished autophagic flux, and p62 accumulation. Finally, we show that treatment with trehalose or rapamycin, two enhancers of autophagy-lysosomal function, each partially rescue this tau phenotype. We provide insight into the neurodegenerative processes underlying NHE6 loss of function and into the broader role of the endosome-lysosome-autophagy network in neurodegeneration.

Trajectories of Depressive and Anxiety Symptoms Across Pregnancy and Postpartum in Selective Serotonin Reuptake Inhibitor-Treated Women.

Objective: Tracking perinatal mood and anxiety disorders is championed by the American Psychiatric Association and the International Marcé Society for Perinatal Mental Health. We conducted this study to examine trajectories of monthly depressive and anxiety symptoms through pregnancy and postpartum. Methods: This is a prospective longitudinal observational cohort study of pregnant women interviewed at baseline (≤18th gestational week), every four weeks through delivery and at 6 and 14 weeks postpartum at three urban academic medical centers (N = 85) and a single rural health center (N = 3) from 2016 to 2020. Pregnant women had at least one prior episode of major depressive disorder, were not in a current episode, and were treated with sertraline, fluoxetine, citalopram, or escitalopram. Of 192 women screened, 88 (46%) women enrolled, and 77 (88%) women completed the postpartum follow-up. Symptom trajectories were generated with scores from the Edinburgh Postnatal Depression Scale, the Quick Inventory of Depressive Symptoms, the Generalized Anxiety Disorder Scale, 7-item, and the Patient-Reported Outcomes Measurement Information System Global Health measure. A semi-parametric, group-based mixture model (trajectory analysis) was applied. Results: Three relatively stable depression trajectories emerged, described as Minimal, Mild, and Subthreshold, in each group across pregnancy. Two of the four anxiety trajectories were stable, including Asymptomatic and Minimal, while the third, termed Breakthrough, was ascending with increasing symptoms and the fourth trajectory, described as Mild, had descending symptoms. Conclusions: Screening for anxiety with depression for pregnant women will yield a comprehensive view of psychiatric symptoms and treatment targets in perinatal women.

Aortic size in children: Systolic measurements are different from diastolic measurements.

BACKGROUND: Current guidelines recommended aortic measurements during diastole in adults and during systole in children. Recent studies in adults have demonstrated noteworthy differences in aortic measurements during systole and diastole in the same subjects. In the present study, we aimed to characterize systolic and diastolic differences in aortic measurements in healthy children. MATERIALS AND METHODS: This retrospective study included 272 children who had a complete echocardiogram and no heart disease. Aortic measurements at the annulus (ANN), aortic root (AOR), sinotubular junction (STJ), and ascending aorta (AAO) were performed. Systolic and diastolic values were compared by calculating the mean systolic to diastolic (SD) percent difference for each segment; if the SD difference was >5%, it was considered clinically important. Similar measurements were conducted by another observer in 18% of the subjects. RESULTS: Systolic measurements were larger than diastolic measurements with mean SD percent differences >5% (P < 0.001) for the AOR (7.3% ± 5.5%), STJ (10.24% ± 7.1%), and AAO (9.8% ± 7.4%). There was no clinically significant SD difference for the ANN. There was an excellent intraclass correlation coefficient between observers (0.982-0.995). CONCLUSIONS: Systolic measurements for the AOR, STJ, and AAO were larger than diastolic measurements. Normal reference values are utilized to design treatment for patients with abnormal aortic sizes, and the timing in the cardiovascular cycle used to decide the reference values should be equivalent to the timing used to make measurements in clinical practice. This is particularly imperative as patients transition their care from a pediatric to an adult cardiologist.

Radiofrequency ablation of pediatric AV nodal reentrant tachycardia during the ice age: a single center experience in the cryoablation era.

BACKGROUND: Radiofrequency catheter ablation of atrioventricular nodal reentrant tachycardia (AVNRT) has proven to be an effective therapy in the pediatric population. However, concerns of inadvertent permanent AV nodal block have resulted in many pediatric programs adopting cryoablation as their primary ablation approach for AVNRT. METHODS: A retrospective analysis of the results of pediatric radiofrequency catheter ablation at a single institution over the most recent 5 years (January 2004 through December 2008) was performed. Acute, intermediate, and long-term success, along with the incidence of AV block, were determined. RESULTS: There were 65 patients with a mean age of 12.1 + or - 5.2 years and weight of 46.5 + or - 17.3 kg who underwent radiofrequency catheter ablation for AVNRT. There was 100% acute success with no recurrences at a mean follow up of 32.5 months. Although two patients had a brief second-degree AV block, there was no permanent AV block of any degree. CONCLUSIONS: The safety and efficacy of radiofrequency catheter ablation for pediatric AVNRT demonstrated in this study support its continued application and should not be abandoned as a method of treatment.

Moderate sedation for echocardiography of preschoolers.

Preschoolers frequently require sedation for echocardiograms. This study compared various sedation drugs at the authors' institution, as well as the charges for moderate versus deep sedation. From 2001 to 2007, sedation was administered to 703 patients ages 2 to 4 years. Four drug regimens were used: chloral hydrate (CH), chloral hydrate with diphenhydramine (CH + D), chloral hydrate with hydroxyzine hydrochloride (CH + H), and midazolam. The mean onset of sedation was 37 min, and the mean duration of sedation was 47 min. The CH group fell asleep the most quickly (30 min; p < 0.001), and the CH + D patients experienced the most prolonged sedations (13%; p < 0.001). Studies were completed by 97% of the chloral hydrate group, 98% of the CH + D group, and 94% of the CH + H group compared with 66% of the midazolam group (p < 0.001). Complications (7.4%) were minor and not significant for any particular medication. The charges for moderate sedation averaged $709 compared with $3,628 for deep sedation. The findings demonstrated that chloral hydrate was the fastest-acting agent and had a high success rate with minimally prolonged sedations. The low complication rate for chloral hydrate, and the much lower cost for its use to induce moderate sedation have made chloral hydrate our preference for the echocardiographic sedation of preschoolers.

Amiodarone for pediatric resuscitation: a word of caution.

Intravenous administration of amiodarone has recently been recommended for use during pediatric resuscitation of pediatric patients with ventricular fibrillation or pulseless ventricular tachycardia. We present two pediatric patients who received amiodarone for polymorphic ventricular tachycardia, although they were ultimately determined to have congenital long QT syndrome. Amiodarone is contraindicated in this setting and may have exacerbated the ventricular arrhythmia.

Implementing personal health budgets in England: a user-led approach to substance misuse.

Personal health budgets (PHBs) in England have been viewed as a vehicle for developing a personalised patient-based strategy within the substance misuse care pathway. In 2009, the Department of Health announced a 3-year pilot programme of PHBs to explore opportunities offered by this new initiative across a number of long-term health conditions, and commissioned an independent evaluation to run alongside as well as a separate study involving two pilot sites that were implementing PHBs within the substance misuse service. The study included a quantitative and qualitative strand. The qualitative strand involved 20 semi-structured interviews among organisational representatives at two time points (10 at each time point) between 2011 and 2012 which are the focus for this current paper. Overall, organisational representatives believed that PHBs had a positive impact on budget-holders with a drug and/or alcohol misuse problem, their families and the health and social care system. However, a number of concerns were discussed, many of which seemed to stem from the initial change management process during the early implementation stage of the pilot programme. This study provides guidance on how to implement and offer PHBs within the substance misuse care pathway: individuals potentially would benefit from receiving their PHB post-detox rather than at a crisis point; PHBs have the potential to improve the link to after-care services, and direct payments can provide greater choice and control, but sufficient protocols are required.

Physician Attitudes toward the First Pediatric Appropriate Use Criteria and Engagement With Educational Intervention to Improve the Appropriateness of Outpatient Echocardiography.

BACKGROUND: A survey of pediatric cardiologists who participated in the Pediatric Appropriate Use of Echocardiography study was conducted to assess attitudes toward appropriate use criteria (AUC) and the relationship between perceptions of usefulness of a multifaceted educational intervention (EI) and the appropriateness of transthoracic echocardiography (TTE). METHODS: Self-reported helpfulness and impact of a four-component EI (feedback of personal appropriateness data before EI, lecture, self-assignment of AUC indications, and monthly feedback) was surveyed. Physicians' perceptions were correlated with measured changes in appropriateness after EI by center. RESULTS: Responses were obtained from 54 of 89 physicians (61%; 52% general cardiologists, 24% imaging specialists), and most (72%) felt that AUC were helpful in health care cost reduction. More physicians with ≤10 years of experience self-reported ordering TTE less often because of AUC (P = .04). Subspecialty did not influence TTE ordering practice. Centers whose physicians had higher rates of reading the document had higher appropriateness. A change in practice following EI was self-reported by 31 of 54 respondents (57%). All components of EI were felt to be helpful. Helpfulness and self-reported impact of each EI component tracked together (r = 0.61; 95% CI, 0.16-0.85; P = .01) but varied among centers. Centers with higher perceived practice impact of EI overall had greater changes in measured appropriateness after EI. CONCLUSIONS: AUC were perceived to be useful by a majority of pediatric cardiologists surveyed. Centers with a positive attitude toward AUC and higher engagement with EI had higher actual appropriateness of TTE orders. Improving physicians' attitudes toward AUC and EI may improve outpatient TTE utilization.

Educational intervention for improving the appropriateness of transthoracic echocardiograms ordered by pediatric cardiologists.

OBJECTIVE: The objective of this study was to evaluate effectiveness of educational intervention (EI) in the Pediatric Appropriate Use of Echocardiography (PAUSE) study to improve appropriateness of transthoracic echocardiograms (TTEs) ordered in pediatric cardiology clinics. DESIGN: Data were prospectively collected after the publication of the Appropriate Use Criteria (AUC) document during 2 phases: the pre-EI phase (1/1/15 to 4/30/15) and the post-EI phase (7/1/15 to 10/30/15). Pre-EI, site-investigators (SI) determined AUC indications, by reviewing the clinic records. Post-EI, providers assigned indications prior to obtaining TTE. SETTING: Pediatric cardiology clinics at six centers. PATIENTS: Those ≤18 years old, receiving initial outpatient TTE. INTERVENTIONS: EI included (i) sharing the pre-EI appropriateness ratings with providers, (ii) lecture on AUC, (iii) providers self-assigning indications, and (iv) monthly e-mail feedback by SI to individual providers. OUTCOME: The primary outcome measure was a change in the proportion of studies for indications rated R following EI. RESULTS: Of the 4542 TTEs (1907 pre-EI, 2635 post-EI) ordered by 90 physicians, overall comparison of appropriateness ratings before and after EI showed an increase in Appropriate (72.5%-76.2%, P = .004), no change in May Be Appropriate, and a decline in Rarely Appropriate (R) from 9.6% to 7.4%, P = .008. Following EI, a significant decline in R was observed only in three centers and EI did not affect the variation in TTEs ordered for R indications among physicians (P = .467). Physicians with the highest proportion of TTEs ordered for R before EI, showed the most significant decline in R. CONCLUSIONS: Appropriateness of pediatric outpatient TTE varies substantially by center. A customized EI resulted in modest improvement in the appropriateness of TTEs in the PAUSE study, with an increase in Appropriate and a decrease in R TTEs. Multifaceted EIs are required to improve adherence to national standards such as AUC.

The incidence of chromosome abnormalities in neonates with structural heart disease.

OBJECTIVES: This study was conducted to determine the prevalence of chromosomal anomalies in newborns with structural heart disease admitted to the cardiac intensive care unit (CICU) at Nicklaus Children's Hospital (NCH). METHODS: A retrospective review identified newborns age 30 days or less admitted to NCH CICU between 2004 and 2010. Patients with structural heart disease who required admission to our CICU and received karyotype or karyotype and fluorescent in situ hybridization (FISH) testing were included in the study. All patients were examined for the presence of dysmorphic features. RESULTS: Four hundred and eighty-two patients met the criteria for the study; 405 (84%) received both karyotype and FISH. Chromosome abnormalities were present in 86 (17.8%) patients. Syndromes accounted for 20 (5.1%) of those with normal chromosomes. Dysmorphic features were seen in 79.1% of patients with abnormal chromosomes and 25.5% of those with normal chromosomes. All patients with syndromes were dysmorphic. Race and gender did not significantly affect the incidence of genetic abnormalities. CONCLUSIONS: Chromosome abnormalities, including syndromes, are prevalent in newborns with congenital heart disease. Further research is needed to evaluate the utility of cytogenetic screening in all children with congenital heart disease.

Echocardiographic and Surgical Correlation of Coronary Artery Patterns in Transposition of the Great Arteries.

OBJECTIVE: Determine the accuracy of echocardiography to diagnose coronary anatomy in transposition of the great arteries and to evaluate the effect of accuracy on surgical outcomes and changes in accuracy over time. DESIGN: Retrospective chart review of neonates admitted February 1999 to March 2013 with transposition. Coronary pattern from the preoperative echocardiogram and operative reports were collected and compared with determine diagnostic accuracy. Coronary patterns were further confirmed by intraoperative images taken during surgery. SETTING: Tertiary care children's hospital. PATIENTS: Neonates with transposition of the great arteries and planned arterial switch operation with an echo and operative report or image describing the coronaries. INTERVENTIONS: Not applicable. OUTCOME MEASURES: Accuracy of echocardiography to diagnose coronary anatomy in transposition, and to identify factors related to correct diagnosis. RESULTS: One hundred forty-two patients met inclusion criteria with 122 correctly diagnosed, 16 incorrect, and 4 inconclusive. Accuracy was 86%, with 95% accuracy in patients with typical coronary patterns, 85% with the most common variant (left coronary from the leftward sinus and right and circumflex from the rightward sinus), and 61% with less common patterns. Typical and common variants were more likely to be correct than atypical patterns (P < .001). Cases with ventricular septal defect were more likely to have correctly diagnosed coronaries than with an intact ventricular septum (94% vs. 79%, P = .01). There was no change in accuracy over time (P > .05). There was no difference in duration of cardiopulmonary bypass, cross-clamp times, length of stay, or postoperative stay between the correct and incorrectly diagnosed groups (P > .05). CONCLUSIONS: In our center, accuracy of echocardiographic imaging of the coronary arteries in transposition was 86% without improvement over time, and perioperative outcomes were not affected by diagnostic accuracy. Further invasive imaging may not be necessary to determine the coronary pattern in this lesion.