Surveillance Of Anomalies Research Articles

UK neonatal stoma practice: a population study

ObjectiveThe optimal time for neonatal stoma closure is unclear and there have been calls for a trial to compare early and late surgery. The feasibility of such a trial will...

Provincial and territorial congenital anomalies surveillance: a summary of surveillance programs across Canada.

The Canadian Congenital Anomalies Surveillance Network was established in 2002 to address gaps in the national surveillance of congenital anomalies (CAs) and support the sustainability of high-quality, population-based, CA surveillance systems within provinces and territories. This paper highlights the methodologies of each local CA surveillance system, noting similarities and variabilities between each system, to contribute to enhanced national CA surveillance efforts.

Congenital anomalies during Covid-19: artifact of surveillance or a real TORCH?

Infections in the first trimester of pregnancy can be teratogenic, but the possibility that Covid-19 could lead to birth defects is unclear. We examined whether SARS-CoV-2 infection during pregnancy or exposure to pandemic conditions were associated with the risk of congenital anomalies. We carried out a retrospective study of 420,222 neonates born in Quebec, Canada in two time periods: prepandemic (January 1, 2017 to March 12, 2020) vs. pandemic (March 13, 2020 to March 31, 2022). We classified pandemic births as early (first trimester completed before the pandemic) or late (first trimester during the pandemic), and identified patients with SARS-CoV-2 infections during pregnancy. We applied (1) adjusted log-binomial regression models to assess the association between SARS-CoV-2 infection and congenital anomalies, and (2) autoregressive interrupted time series regression to analyze temporal trends in the monthly number of defects in all patients regardless of infection. In total, 29,263 newborns (7.0%) had a congenital anomaly. First trimester SARS-CoV-2 infections were not associated with a greater risk of birth defects compared with no infection (RR 1.07, 95% CI 0.59-1.95). However, births during the late pandemic period were more likely to be diagnosed with congenital microcephaly compared with prepandemic births (RR 1.44, 95% CI 1.21-1.71). Interrupted time series analysis confirmed that the frequency of microcephaly increased during the late pandemic period, whereas other anomalies did not. We conclude that Covid-19 is likely not teratogenic, but enhanced surveillance of anomalies among late pandemic births may have heightened the detection of infants with microcephaly.

Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019.

Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co-occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population-based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies. There were 11 cases ascertained with prenatal findings including facial anomalies: one each with left cleft lip, right microtia, and bilateral microphthalmia. Two cases had vertebral anomalies. In addition, anomalies of the kidneys, brain, heart, and radial ray were identified. Six (55%) had a single umbilical artery, five (45%) were small for gestational age, and three (27%) were from a twin pregnancy that were discordant for anomalies. Four (36%) overlapped another proposed recurrent constellations of embryonic malformation condition. This study describes prenatal findings for 11 cases with CFM. Comparable to prior published cases, there were recurring anomalies on prenatal imaging, including anomalies of the brain, eye, heart, kidneys, and radial ray, which may aid in the prenatal diagnosis of CFM.

Publicly funded healthcare costs associated with orofacial clefts for children born in Alberta, Canada between 2002 and 2018.

Orofacial clefts (OFCs) include cleft palate (CP), cleft lip (CL), and cleft lip with cleft palate (CLP) and require multidisciplinary healthcare services. Alberta, Canada has a publicly funded, universal access healthcare system. This study determined publicly funded healthcare costs for children with an OFC and compared these costs to children without congenital anomalies. This retrospective population-based cohort analysis used the Alberta Congenital Anomalies Surveillance System to identify children born between 2002 and 2018 with an isolated OFC. They were matched 1:1 to a reference cohort based on sex and year of birth. The study population included 1614 children, from birth to 17 years of age linked to administrative databases to estimate annual inpatient and outpatient costs. Average annual all-cause costs were compared using two-sample independent t tests. The mean total cleft-related costs per patient were highest for children with CLP ($74,138 CAD, standard deviation (SD) $43,447 CAD), followed by CP ($53,062 CAD, SD $74,366 CAD), and CL ($35,288 CAD, SD $49,720 CAD). The mean total all-cause costs per child were statistically significantly higher (p < .001) in children with an OFC ($56,305 CAD, SD $57,744 CAD) compared to children without a congenital anomaly ($18,600 CAD, SD $61,300 CAD). Despite public health strategies to mitigate risk factors, the trend for OFCs has remained stable in Alberta, Canada for over 20 years. The costs reported are useful to other jurisdictions for comparison, and to families, healthcare professionals, service planners, and policy makers.

Extraction of photoluminescence with Pearson correlation coefficient from images of field-installed photovoltaic modules

Photoluminescence imaging of field-installed photovoltaic modules has the potential to be a high throughput on-site inspection technique. A contribution to this development is a noninvasive photoluminescence imaging method that has been proposed recently. It is based on acquiring images during a progressing current–voltage curve sweep, resulting in a detection of a continuously changing photoluminescence signal. From this follows the necessity to employ an alternative algorithm based on the Pearson correlation coefficient, which will contribute to efficient, unsupervised image processing and, thus, easier (in real-time) implementation. The new algorithm separates photoluminescence from the reflected sunlight, similar to the conventional subtraction algorithm. However, it is robust to varying solar irradiance and can process the photoluminescence signal emitted from multiple asynchronized strings. We predict that it will enable unsupervised real-time surveillance and detection of functional anomalies at a low computational cost. It is also more sensitive at segmenting ground-reflected photoluminescence.

Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System

To report associated congenital anomalies with unexplained craniofacial microsomia (CFM) and the phenotypic overlap with other recurrent constellations of embryonic malformations (RCEM), and to assess prenatal and perinatal risk factors. This is a retrospective cross-sectional study. Cases with CFM, delivered between January 1, 1997, and December 31, 2019, were abstracted from the population-based Alberta Congenital Anomalies Surveillance System. Livebirths, stillbirths, and early fetal losses were reviewed to include all types of pregnancy outcomes along the spectrum of this condition. Prenatal and perinatal risk factors were compared with the Alberta birth population to assess differences between the 2 groups. There were 63 cases with CFM, yielding a frequency of 1 per 16 949. There was a high rate of cases (65%) with anomalies outside the craniofacial and vertebral regions. Congenital heart defects were the most common (33.3%). A single umbilical artery was found in 12.7% of cases. The twin/triplet rate of 12.7% was significantly higher than the Alberta rate of 3.3% (P<.0001). There was an overlap with a second RCEM condition in 9.5% of cases. Although CFM is primarily a craniofacial condition, the majority of cases have congenital anomalies affecting other systems requiring additional assessments, including an echocardiogram, renal ultrasound examination, and a complete vertebral radiograph. The high rate of an associated single umbilical artery raises the possibility of a related etiological mechanism. Our findings support the proposed concept of RCEM conditions.

Release notice - Congenital Anomalies in Canada Data Tool: latest update on prevalence rates and trends over 15 years (2006–2020)

The Canadian Congenital Anomalies Surveillance System (CCASS) team of the Public Health Agency of Canada (PHAC) is pleased to announce the release of the latest Congenital Anomalies in Canada Data Tool. The interactive Data Tool, located on the PHAC Infobase website, includes the latest information on the prevalence rates and temporal trends for 38 select congenital anomalies (grouped into 12 categories) in Canada. Data are derived from the Discharge Abstract Database of the Canadian Institute for Health Information, which includes data from all provinces and territories except Quebec. Data include a follow-up period of one year after birth.

The Alberta Congenital Anomalies Surveillance System: a 40-year review with prevalence and trends for selected congenital anomalies, 1997-2019.

Current published long-term provincial or territorial congenital anomaly data are lacking for Canada. We report on prevalence (per 1000 total births) and trends in 1997-2019, in Alberta, Canada, for selected congenital anomalies. Associated risk factors are also discussed. We used data from the Alberta Congenital Anomalies Surveillance System (ACASS) to calculate the prevalence and perform chi-square linear trend analyses. From 1997 to 2019, the overall prevalence of neural tube defects was stable, at 0.74 per 1000 total births. The same was true for spina bifida (0.38), orofacial clefts (1.99), more severe CHDs (transposition of the great arteries, 0.38; tetralogy of Fallot, 0.33; and hypoplastic left heart syndrome, 0.32); and gastroschisis (0.38). Anencephaly, cleft palate and anorectal malformation significantly decreased with a prevalence of 0.23, 0.75 and 0.54 per 1000 total births, respectively. Significantly increasing trends were reported for anotia/microtia (0.24), limb reduction anomalies (0.73), omphalocele (0.36) and Down syndrome (2.21) and for hypospadias and undescended testes (4.68 and 5.29, respectively, per 1000 male births). Congenital anomalies are an important public health concern with significant social and societal costs. Surveillance data gathered by ACASS for over 40 years can be used for planning and policy decisions and the evaluation of prevention strategies. Contributing genetic and environmental factors are discussed as is the need for continued surveillance and research.

Congenital anomalies associated with oil and gas development and resource extraction: a population-based retrospective cohort study in Texas.

Oil and gas extraction-related activities produce air and water pollution that contains known and suspected teratogens. To date, health impacts of in utero exposure to these activities is largely unknown. We investigated associations between in utero exposure to oil and gas extraction activity in Texas, one of the highest producers of oil and gas, and congenital anomalies. We created a population-based birth cohort between 1999 and 2009 with full maternal address at delivery and linked to the statewide congenital anomaly surveillance system (n = 2,234,138 births, 86,315 cases). We examined extraction-related exposures using tertiles of inverse distance-squared weighting within 5 km for drilling site count, gas production, oil production, and produced water. In adjusted logistic regression models, we calculated odds of any congenital anomaly and 10 specific organ sites using two comparison groups: 1) 5 km of future drilling sites that are not yet operating (a priori main models), and 2) 5-10 km of an active well. Using the temporal comparison group, we find increased odds of any congenital anomaly in the highest tertile exposure group for site count (OR: 1.25; 95% CI: 1.21, 1.30), oil production (OR: 1.08; 95% CI: 1.04, 1.12), gas production (1.20; 95% CI: 1.17, 1.23), and produced water (OR: 1.17; 95% CI: 1.14, 1.20). However, associations did not follow a consistent exposure-response pattern across tertiles. Associations are highly attenuated, but still increased, with the spatial comparison group in the highest tertile exposure group. Cardiac and circulatory defects are strongly and consistently associated with all exposure metrics. Increased odds of congenital anomalies, particularly cardiac and circulatory defects, were associated with exposures related to oil and gas extraction in this large population-based study. Future research is needed to confirm findings, examine specific exposure pathways, and identify potential avenues to reduce exposures among local populations. About 5% of the U.S. population (~17.6 million people) resides within 1.6 km of an active oil or gas extraction site, yet the influence of this industry on population health is not fully understood. In this analysis, we examined associations between oil and gas extraction-related exposures and congenital anomalies by organ site using birth certificate and congenital anomaly surveillance data in Texas (1999-2009). Increased odds of congenital anomalies, particularly cardiac and circulatory defects, were associated with exposures related to oil and gas extraction in this large population-based study. Future research is needed to confirm these findings.

Validation of case definition algorithms for the ascertainment of congenital anomalies.

Congenital anomalies (CA) are one of the leading causes of infant mortality and long-term disability. Many jurisdictions rely on health administrative data to monitor these conditions. Case definition algorithms can be used to monitor CA; however, validation of these algorithms is needed to understand the strengths and limitations of the data. This study aimed to validate case definition algorithms used in a CA surveillance system in British Columbia (BC), Canada. A cohort of births between March 2000 and April 2002 in BC was linked to the Health Status Registry (HSR) and the BC Congenital Anomalies Surveillance System (BCCASS) to identify cases and non-cases of specific anomalies within each surveillance system. Measures of algorithm performance were calculated for each CA using the HSR as the reference standard. Agreement between both databases was calculated using kappa coefficient. The modified Standards for Reporting Diagnostic Accuracy guidelines were used to enhance the quality of the study. Measures of algorithm performance varied by condition. Positive predictive value (PPV) ranged between approximately 73%-100%. Sensitivity was lower than PPV for most conditions. Internal congenital anomalies or conditions not easily identifiable at birth had the lowest sensitivity. Specificity and negative predictive value exceeded 99% for all algorithms. Case definition algorithms may be used to monitor CA at the population level. Accuracy of algorithms is higher for conditions that are easily identified at birth. Jurisdictions with similar administrative data may benefit from using validated case definitions for CA surveillance as this facilitates cross-jurisdictional comparison.

Clinical applications of arterial spin labeling of the intracranial compartment in vascular anomalies-A case-based review.

Arterial spin labeling (ASL) is a magnetic resonance perfusion technique that allows for quantification of cerebral blood flow (CBF) without the use of contrast or radiation. Several applications of ASL have been described in diagnosis of strokes and stroke mimics, intracranial tumors, and other conditions. Various vascular anomalies exhibit specific CBF patterns that correlate with different signal intensities on ASL. In this case-based review, we demonstrate the utility of ASL in diagnosis and surveillance of vascular anomalies in the intracranial compartment.

Implementation of the BC Congenital Anomalies Surveillance System (BCCASS).

Congenital anomalies (CAs) can cause lifelong morbidity and accounted for 23.2% of infant deaths from 2003 to 2007. In British Columbia (BC), surveillance of CAs has been irregular since the early 2000s. To enhance CAs surveillance in BC, the Public Health Agency of Canada has provided funding for the implementation of the BC Congenital Anomalies Surveillance System (BCCASS). BCCASS is a population-based surveillance system. The system leverages existing administrative data sources that capture information regarding vital events, disease status, drug prescription, and healthcare utilization. The system uses a series of algorithms to capture specific CAs diagnoses, some of which are further validated with the support of the Provincial Advisory Committee. This Advisory Committee is a multi-stakeholder coalition that includes the BC Office of the Provincial Health Officer, subject matter experts, data partners, users, and academia, and acts to provide support, expertise, and strategic guidance to BCCASS. Through BCCASS, prevalence and historical trends for 35 CAs in BC are available. Information pertaining to maternal place of residence, risk, and protective factors can be used for association studies such as links to environmental hazards and cluster analysis. BCCASS is a cost-effective and sustainable system that leverages existing data sources necessary to understand the overall burden of CAs across the BC population. This is fundamental to support data-driven decisions around policy development, program planning, and evaluation of preventive measures. Strong coalitions with stakeholders are instrumental to ensure successful implementation and expansion in the future.

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010–2017

ObjectiveThe Latin American Network of Congenital Malformations: ReLAMC was established in 2017 to provide accurate congenital anomaly surveillance. This study used data from ReLAMC registries to quantify the prevalence of...

Impaired Health of Children Treated for Hirschsprung’s Disease

Impaired Health of Children Treated for Hirschsprung’s Disease

Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings.

Background:Surveillance programs in low- and middle-income countries (LMICs) have difficulty in obtaining accurate information about congenital anomalies.Methods:As part of the ZikaPLAN project, an International Committee developed an app for the description and coding of congenital anomalies that are externally visible at birth, for use in low resource settings. The “basic” version of the app was designed for a basic clinical setting and to overcome language and terminology barriers by providing diagrams and photos, sourced mainly from international Birth Defects Atlases. The “surveillance” version additionally allows recording of limited pseudonymized data relevant to diagnosis, which can be uploaded to a secure server, and downloaded by the surveillance program data center.Results:The app contains 98 (88 major and 10 minor) externally visible anomalies and 12 syndromes (including congenital Zika syndrome), with definitions and International Classification of Disease v10 -based code. It also contains newborn examination videos and links to further resources. The user taps a region of the body, then selects among a range of images to choose the congenital anomaly that best resembles what they observe, with guidance regarding similar congenital anomalies. The “basic” version of the app has been reviewed by experts and made available on the Apple and Google Play stores. Since its launch in November 2019, it has been downloaded in 39 countries. The "surveillance” version is currently being field-tested.Conclusion:The global birth defects app is a mHealth tool that can help in developing congenital anomaly surveillance in low resource settings to support prevention and care.

Surgical necrotizing enterocolitis: Association between surgical indication, timing, and outcomes

Background/PurposeDespite improvements in neonatal care the outcomes of Necrotizing Enterocolitis (NEC) remain unchanged over previous decades. The study aims to explore whether different indications for surgical intervention in NEC are associated with timing of surgery and outcomes. MethodsPopulation-based, prospective, observational study of all 27 paediatric surgical centres in the United Kingdom and Ireland identified using the British Association of Paediatric Surgeons Congenital Anomalies Surveillance System from 1st February 2013 to 28th February 2014. Infants were included if they had NEC and underwent first surgical intervention within 7 days of diagnosis. Primary outcomes were death, parenteral nutrition requirement or a composite outcome of death or PN requirement at 28 days post surgery. ResultsThere were 133 infants meeting inclusion criteria. Indications for surgery were bowel perforation (n = 67), suspected necrotic bowel without bowel perforation and not deemed to have failed medical management (n = 20), those who had failed medical management (n = 42) and a palpable mass without any other indication (n = 4). Failed medical treatment as an indication for surgery was associated with an increased time to surgery of 30.28 (95% CI 13.46–47.10) hours from those whose indication was perforation and was also the strongest predictor of PN requirement or death at 28 days post-surgery (OR 4.54 [1.59–13.0]). ConclusionsFailed medical treatment as an indication for surgery for NEC is associated with poor outcome. Earlier intervention in these infants represents a potential opportunity to improve outcomes in this population.

ABSENT SUPRARENAL INFERIOR VENA CAVA REVEALED ON CT SCAN IN A PATIENT WITH ACUTE APPENDICITIS

Inferior vena cava agenesis (IVCA) is an uncommon congenital anomaly which was first described in the seventeenth century. The detection of such an anomaly is often incidental and patients are asymptomatic until the third to fourth decade of life. Due to the scarcity of these cases, there is no consensus on the subsequent treatment and surveillance of incidental asymptomatic IVC anomalies. Herein, we report on a young male with incidental findings of suprarenal IVC agenesis identified on contrast enhanced computed tomography (CT) scan of the abdomen in the course of treatment for acute appendicitis.

Does antiretroviral therapy cause congenital malformations? A systematic review and meta-analysis.

OBJECTIVESThis meta-analysis investigated the risk of congenital anomalies among infants of human immunodeficiency virus-infected pregnant women who were exposed to antiretroviral therapy (ART).METHODSCohort studies, case-control studies, randomized controlled trials, and controlled clinical trials were reviewed by searching MEDLINE/PubMed, Embase, Web of Science, Scopus, AIDSLINE, CINAHL, Cochrane Library, and Google/Google Scholar. Methodological quality was assessed using the GRADE evaluation. A DerSimonian and Laird random-effects model was used. Subgroup analyses and meta-regression were used to investigate heterogeneity.RESULTSThe electronic searches yielded 765 items. After quality assessment and grading, 30 studies were suitable for metaanalysis. In total, 1,461 congenital anomalies were found among 53,186 births. Children born to women receiving combined antiretroviral therapy (cART) had an approximately 10% higher risk of developing congenital anomalies (relative risk [RR], 1.09; 95% confidence interval [CI], 1.04 to 1.14). A subgroup analysis found no significant difference in the risk of congenital anomalies between cART and efavirenz users. However, zidovudine and protease inhibitor (RR, 1.09; 95% CI, 1.00 to 1.19) users were found to have a 10% increased risk of congenital anomalies, and integrase inhibitor users had a 60% increase in risk (RR, 1.61; 95% CI, 1.60 to 2.43). The subgroup results should be interpreted cautiously because of the moderate heterogeneity (I2 =58%).CONCLUSIONSThe use of protease inhibitors, integrase inhibitors, zidovudine, and newer drugs should be carefully considered in pregnant women. Further studies are needed to address environmental, nutrition, and adherence factors related to ART. Establishing a congenital anomalies surveillance system is recommended.

One-year Outcomes of Congenital Duodenal Obstruction: A Population-based Study.

Congenital duodenal obstruction (CDO) occurs in 1.2 per 10,000 live births and is frequently associated with other anomalies, most commonly cardiac. The aim of this study was to report important outcomes to 1 year following surgical repair. This was a prospective population-based study using the British Association of Paediatric Surgeons Congenital Anomaly Surveillance System. Cases were identified at specialist pediatric surgical centres in the United Kingdom during a 12-month period starting in March 2016. Outcomes were recorded at 1 year following surgical repair. There were 100 infants with possible follow-up at 1 year and follow-up was achieved in 80 of these (80%) of whom 76 were alive at 1 year. The remainder had been discharged home, although one remained on parenteral nutrition. Five (6.1%) infants underwent repeat surgery for reasons related to CDO and overall 23 (23%) experienced at least 1 central venous catheter-related complication within 1 year. Overall mortality either before repair or within 1 year following surgical repair was 8.4% (95% CI 2.5%-14.4%), no deaths were related to CDO. One year outcomes for CDO are generally very good with poor outcomes typically related to comorbidities. These data are useful for national benchmarking and parental counselling.