Surgical Congenital Anomalies Research Articles

The global challenges of surgical congenital anomalies: Evidence, models, and lessons

The treatment of congenital anomalies (structural birth defects) is common to all the surgical sub-specialties dealing with children. Globally more than 90 % of all babies born with a congenital anomaly are born in middle-and-low-income countries where there is often limited access to needed surgical care. Challenges include lacks of early identification, registry and surveillance systems, missing referral pathways, shortage of trained surgical expertise and insufficient surgical infrastructure. Poverty, transportation logistics, financial constraints and social stigma are also serious barriers for families. There is, however, growing recognition of the priority to expand services, encouraged by the World Health Organization and other global players, and examples of successful models of care. Registry programs are growing, especially in Latin America. The Ponseti method of clubfoot care has been revolutionary on a global scale. The role of not-for-profit non-governmental-organizations has been instrumental in fundraising, training and logistical support as exemplified in the care of oro-facial clefts. Specialized “niche” hospitals are providing needed sub-specialist expertise. The way forward includes the need for effective partnerships, innovative methods to distribute care out from referral hospitals into the districts and the development of national plans embedded in national health policy.

Percutaneous Patent Ductus Arteriosus (PDA) closure: When and how to close Coil VS Occluder “step by step” cases report

Background: The PDA defines the pathological persistence after the birth of a fetal physiological communication between the aorta and the pulmonary artery frequently encountered in preterm infants and whose clinical and hemodynamic consequences depend on the importance of the shunt directly bound to the diameter of the canal. Percutaneous closure is the most frequent management modality with excellent immediate and long-term results (two modes of closure: using coil or Occluder). The surgery remains reserved for complex anatomies or associated with other surgical congenital anomalies. Case presentation: We detail in this document the two methods of percutaneous closure step by step illustrated by pediatric cases. The first case concerns a 7 years old girl of 17 kg weight with a history of heart murmur that presented in the TTE a PDA estimated at 1mm with LV dilation. The second case concerns a 12 years old girl of 30 kg weight with also a history of heart murmur that presented on TTE a PDA of 4.5mm with LV dilation. Therapeutic intervention: In the first case, we perform a closure with coil 5/5 by a unique femoral arterial approach as a standardized attitude in our center avoiding additional venous access. For the second case, we opted for closure with prosthesis N° 6/8 by a double femoral approach (arterial and venous access). Outcomes: The follow-up was favorable for both patients, with total sealing of the defect immediately after the procedures that persist during the 6 months of control. Conclusion: The closure of PDA in children is a challenging procedure whose safety requires a good pre-and per-procedural evaluation allowing the right choice of the method and size of the closing device. The respect of the different closure stages and the critical per procedural ultrasound and angiographic control reduce the rate of complications making this technique accessible and safe. In our series of 108 PDA closures by Coil in children, the unique femoral arterial approach is the standardized attitude in the first line in all patients avoiding additional venous access, which allows the Coil release in the basic technique while the arterial access allows opacification and measurement of the channel. The unique arterial approach has reduced the risk of local complications at the puncture site and the duration of the procedure without difference in closure efficiency and embolization risk. In our series of 92 PDA closures by Occluder in children the double femoral approach is the standardized attitude for all patients, the venous access allows the device release while the arterial access allows opacification/ measurement of the channel and control device deployment.

Anatomy and embryology of congenital surgical anomalies: Congenital Anomalies of the Kidney and Urinary Tract

Congenital anomalies of the kidney and urinary tract or “CAKUT” describes a spectrum of developmental disorders with a range of associated clinical presentations and functional consequences. CAKUT underlies the majority of chronic kidney disease and kidney replacement therapy requirement in children, but functional deterioration can also emerge in adulthood. Understanding the normal embryological processes involved in kidney development allows us to appreciate the timing and sequence of critical events implicated when things go wrong. In this review, we will describe the normal developmental mechanisms and relate this to what we currently know about the pathological processes involved in various forms of CAKUT. We will also review the proposed etiological factors, in particular genetics, involved in CAKUT.

Risk Factors Associated with Postoperative Outcome of Congenital Anomalies

Abstract: Mortality rate of newborns with congenital abnormalities worldwide is still high in the first four weeks after birth every year. This study aimed to obtain the profile of patients with congenital anomalies related with mortality after surgery at the Pediatric Surgery Department, Prof. Dr. R. D. Kandou Hospital, Manado, Indonesia. This was a descriptive and retrospective study. There were 98 samples during 2019 to 2021. Dependent variable was postoperative mortality outcome and independent variable risk factors were sex, gestational age, birth weight, and length of stay. Data were analyzed using univariate method. The results showed that postoperative death was 27.6%, and sex ratio was equally distributed (male 51%; female 49%). Gestational age was pre-dominanly aterm 77.5% vs preterm 22.5%. Birth weight of ≥2500 g was 77,5% and low birth weight (<2500 g) was 22.5%. Hospitalitation length of stay probably less than two weeks was 82.7%. Pediatric surgical congenital anomalies were as follows: Hirchsprung Disease (15.1%), anorectal malformation (41.7%), lateral inguinal hernia (11.3%), diaphragm hernia (3.1%), omphalocele (2.1%), gastroschisis (2.1%), undescended testis/UDT (4.1%), invagination (4.1%), duodenal atresia (3.1%), ileojejunal atresia (4.1%), esophageal atresia (5.1%), biliary atresia (1%), and mechanical bowel obstruction (3,1%). In conclusion, in the last two years, pediatric surgery services in surgical congenital anomalies had overall mortality rate of 27,6% without sex predominantly. Most patients were aterm babies with normal birth weight and relatively short length of stay.Keywords: congenital anomalies; postoperative outcome

Prevalence and patterns of gestational parent's own milk feeds among infants with major congenital surgical anomalies in the NICU.

To describe the prevalence and patterns of gestational parent's own milk (GPOM) feedings among infants undergoing major surgery during their neonatal intensive care unit (NICU) admission. We analyzed de-identified electronic medical records of all infants admitted to a regional NICU 2014-2015 who underwent surgery for a gastrointestinal, cardiac, or other major organ system defect(s). Of 79 infants, 85% received any GPOM during the NICU hospitalization. The median proportion of GPOM feeds was 66%. There was a trend toward decreassing proportions of GPOM with progressive months in NICU. The rate of any and exclusive GPOM feeds at NICU discharge was 49% and 29%, respectively. Infants who had a GI anomaly were more likely than infants with a cardiac anomaly to be discharged from NICU receiving GPOM. Barriers to the exclusive and continued provision of GPOM in this population require further study and intervention.

Antenatal counselling of congenital surgical anomalies: A decade of experience in a local tertiary centre.

This study reviewed the experience of a tertiary paediatric surgery and obstetric centre on prenatal counselling of congenital surgical anomalies and to explore the role of paediatric surgeons on perinatal outcomes of antenatally detected anomalies. A retrospective analysis of all antenatal consultations and subsequent medical records after birth were performed between 2009 and 2018. Data including timing of consultations, gestations at birth, birthweight, impact on obstetrics management, neonatal mortality and need of surgery were included. A total of 256 fetuses were diagnosed to have congenital surgical anomalies on antenatal ultrasound. The most common were urogenital (31%) and thoracic (30%) anomalies. Twelve of the 256 (4.7%) had multiple anomalies. The mean gestation at referral was 23 ± 5 weeks. The majority (85.4%) were born at term. Mode and timing of delivery was altered in 7% of patients. Four received fetal intervention after surgical consultation. Termination of pregnancy rate was 5.4% (n = 14). Neonatal death was reported in 7.8% of the cohort. Congenital surgical anomalies had a significant impact on perinatal outcome as well as morbidity in later infancy and childhood. A multidisciplinary approach in managing pregnancy with these anomalies should be implemented. Combined-specialty consultations and counselling deliver valuable information for parents.

Community Identification and Referral of Surgical Congenital Anomalies: A Pilot Assessment in Uganda

Community Identification and Referral of Surgical Congenital Anomalies: A Pilot Assessment in Uganda

The disproportionate cost of operation and congenital anomalies in infancy

BackgroundCongenital anomalies are the leading cause of infant death and pediatric hospitalization, but existing estimates of the associated costs of health care are either cross-sectional surveys or economic projections. We sought to determine the percent of total hospital health care expenditures attributable to major anomalies requiring surgery within the first year of life. MethodsUtilizing comprehensive California statewide data from 2008 to 2012, cohorts of infants undergoing major surgery, with birth defects and with surgical anomalies, were constructed alongside a referent group of newborns with no anomalies or operations. Cost-to-charge and physician fee ratios were used to estimate hospital and professional costs, respectively. For each cohort, costs were broken down according to admission, birth episode, and first year of life, with additional stratifications by birth weight, gestational age, and organ system. ResultsIn total, 68,126 of 2,205,070 infants (3.1%) underwent major surgery (n = 32,614) or had a diagnosis of a severe congenital anomaly (n = 57,793). These accounted for $7.7 billion of the $18.9 billion (40.7%) of the total health care costs/expenditures of the first-year-of-life hospitalizations, $7.0 billion (48.6%) of the costs for infants with comparatively long birth episodes, and $5.2 billion (54.7%) of the total neonatal intensive care unit admission costs. Infants with surgical anomalies (n = 21,264) totaled $4.1 billion (21.7%) at $80,872 per infant. Cardiovascular and gastrointestinal diseases accounted for most admission costs secondary to major surgery or congenital anomalies. ConclusionIn a population-based cohort of infant births compared with other critically ill neonates, surgical congenital anomalies are disproportionately costly within the United States health care system. The care of these infants, half of whom are covered by Medi-Cal or Medicaid, stands as a particular focus in an age of reform of health care payments.

Profile of congenital surgical anomalies among admitted neonates – A retrospective study from a rural tertiary care centre, South India

Profile of congenital surgical anomalies among admitted neonates – A retrospective study from a rural tertiary care centre, South India

Surgical congenital anomalies in Albania: incidence, prenatal diagnosis and outcome

IntroductionSignificant progress has been made in the diagnosis and management of congenital anomalies (CA). In our study, we aimed to evaluate prenatal diagnosis, trend of surgical CA, mortality rate and...

Screening for congenital fetal anomalies in low risk pregnancy: the Kenyatta National Hospital experience

BackgroundCongenital malformations contribute significantly to the disease burden among children globally. A study conducted in Kenya on understanding the burden of surgical congenital anomalies, highlights the need for Kenyan health systems to go beyond the medical dimensions of illness. This could be achieved by linking knowledge of the severe congenital anomalies (CAs) and their impact of varying disability to the delivery of local health services and public health program planning. Subsequently, early detection of these congenital anomalies is vital and can be achieved through fetal ultrasonography.Studies have proven that antenatal ultrasound can successfully diagnose fetal abnormalities in many cases and therefore aid in counseling of parents and planning for early intervention.Although there are studies on screening of congenital anomalies in various populations, very few have been done in the African population and none to the best of our knowledge has been done in Kenya.MethodsThe patients, who underwent routine obstetric ultrasounds, were recruited into the study. The study population comprised patients who were referred from the obstetric clinic, casualty and other clinics within the hospital vicinity. Data of antenatal ultrasounds was statistically analyzed on structured data collection form to determine the prevalence of congenital anomalies.ResultsFifteen fetal anomalies were diagnosed in 500 women who came for routine ultrasound (3%). The mean age of the mothers was 28.2 years (SD ± 4.5) with an age range from 15 to 44 years. 400 (80%) of the mothers were aged between 27 and 34 years.The most frequently observed fetal anomalies involved the head (8/ 500; 1.6%). Each of the remaining anomalies affected less than 1% of the fetuses and included anomalies of the spine (2/ 500; 0.4%), pulmonary (2/ 500; 0.4%), renal and urinary tract (2/ 500; 0.4%) and skeletal systems (2/ 500; 0.4%). Majority, 9 of 15 (60%) of the fetuses with anomalies detected on prenatal ultrasound resulted in postnatal mortality within days of delivery.ConclusionCongenital anomalies prevalence in our setting compares with those found in other studies. From this study, major birth defects are a major cause of perinatal mortality.

Winging it: maternal perspectives and experiences of breastfeeding newborns with complex congenital surgical anomalies.

ObjectiveTo describe the experience of breastfeeding (inclusive of breast milk expression/pumping, provision of breast milk via devices, and at-breast feeding) among mothers of newborns with complex congenital surgical anomalies and the contexts under which pro-breastfeeding behaviors and attitudes are facilitated or compromised.Study DesignWe used qualitative description to analyze 23 interviews conducted with 15 mothers of newborns undergoing surgery for gastrointestinal, cardiac, or neural tube defects.ResultsBreastfeeding experiences were characterized by naivety regarding the importance and rationale for exclusive breast milk feedings and best practices to facilitate milk supply maintenance and transition to at-breast feeds. Maternal breastfeeding views and behaviors were impacted by indeterminate prenatal plans to breastfeed/provide breast milk, limited prior breastfeeding exposure and knowledge, and gaps in postnatal lactation support.ConclusionFuture research should investigate methods to improve exclusive breast milk feeding and facilitate transitions to at-breast feeds among mothers of newborns with surgical congenital anomalies, with consideration of identified barriers.

Impact of fetal counseling on outcome of antenatal congenital surgical anomalies.

To analyze the impact of counseling on antenatal congenital surgical anomalies (ACSA). Cases presenting with ACSA for fetal counseling and those presenting in post-natal period following diagnosis of ACSA (PACSA) for surgical opinion were analyzed for spectrum, presentation and outcome. 117 cases including ACSA(68);PACSA(49) were analyzed. Gestational age at diagnosis of ACSA;PACSA was 17-37;17-39weeks (median 24;32weeks). Diagnoses in ACSA;PACSA included urological (26;31), neurological (10;5), congenital diaphragmatic hernia (CDH)(5;1), gastrointestinal (5;5), lung and chest anomalies (5;1), intraabdominal cysts (4;1), abdominal wall defects (4;0), tumors (3;3), limb anomaly (1;1), esophageal atresia (1;1), conjoint twins (1;0), hepatomegaly (1;0), and major cardiac anomalies (2;0). Two antenatal interventions were done for ACSA; vesicoamniotic shunt and amnioinfusion for oligohydramnios. 17;24 ACSA;PACSA required early surgical intervention in post-natal period. Nine ACSA underwent medical termination of pregnancy and 4 had intrauterine demise. Nine ACSA babies died including two CDH, one gastroschisis, one duodenal atresia, one conjoint twins, one megacystitis with motility disorder and three posterior urethral valves. All PACSA babies survived. Fetal counseling for CSA portrays true outcome of ACSA with 32.3% (22/68) mortality versus 0% for PACSA due to selection bias. However, fetal counseling ensures optimal perinatal care.

OP32.07: Outcomes of congenital surgical anomalies: a population‐based study on influence of prenatal diagnosis and place of birth in New South Wales

<scp>OP</scp>32.07: Outcomes of congenital surgical anomalies: a population‐based study on influence of prenatal diagnosis and place of birth in New South Wales

The 14th Bethune Round Table Conference on International Surgery1. Sustainable partnerships and local capacity building: Ukraine–Canada experience.2. COSECSA, achievements and challenges in improving global surgery.3. The VCU international trauma system development program in Central and South America.4. Establishing a contextually appropriate laparoscopic program in resource restricted environments: experience in Botswana.5. Collaborative care to reduce maternal deaths from postpartum hemorrhage.6. Building

The 14th Bethune Round Table Conference on International Surgery1. Sustainable partnerships and local capacity building: Ukraine–Canada experience.2. COSECSA, achievements and challenges in improving global surgery.3. The VCU international trauma system development program in Central and South America.4. Establishing a contextually appropriate laparoscopic program in resource restricted environments: experience in Botswana.5. Collaborative care to reduce maternal deaths from postpartum hemorrhage.6. Building

Short-term neurodevelopmental outcome of babies operated on for low-risk esophageal atresia: a pilot study

Data on the neurodevelopmental outcome of esophageal atresia (EA) survivors are scarce, controversial, and based on small samples. This is an observational prospective longitudinal study on a selected cohort of low-risk EA survivors. We considered a low-risk EA survivor a patient with the following characteristics: gestational age >32 weeks, no long gap, no genetic or chromosomic anomaly associated with neurodevelopmental delay, and no further major surgical congenital anomalies. Infants were evaluated with scales derived from the Bayley Scales of Infant and Toddler Development - 3rd Edition at 6 and 12 months, with a score of 100 considered normal for each scale. Analysis of variance was used to assess differences of cognitive and motor development. Linear regression was used to assess the impact of the following clinical and sociodemographic variables: gender, birthweight, gestational age, length of hospital stay, number of surgeries and number of esophageal dilatations during first hospitalization, days of mechanical ventilation, weight at follow up, number of surgeries and esophageal dilatations at follow up, parental age, educational level, and socioeconomic status. Thirty children form the object of the study. The mean (standard deviation [SD]) cognitive scale's score was 93.7 (7.5) and 98.2 (9.6) at 6 and 12 months, respectively (P < 0.05). The mean (SD) motor scale's score was 97.6 (9.3) and 98.0 (12.1) at 6 and 12 months, respectively (P = n.s.). Children with a body weight <5° percentile at 12 months showed a mean (SD) cognitive score significantly lower when compared with those with a body weight >5° percentile: 88.8 (6.3) and 100.5 (8.9), respectively. At 12 months, children with unemployed mothers had a mean (SD) motor score significantly lower when compared with those in the other socioeconomic classes: 87.7 (9.8) and 100.6 (12.4), respectively. In conclusion, parents of babies operated on for low-risk EA can be reassured about neurodevelopmental outcome at least up to 1 year of age. When offering a multidisciplinary follow-up program, underweight patients should deserve particular attention to promote their quality of life and support their global development.

Burden of Surgical Congenital Anomalies in Kenya: A Population-Based Study

Congenital malformations are a significant component of the global burden of disease among children, accounting for 25 million disability-adjusted life years (DALYs) worldwide. Unfortunately, efforts to estimate the burden of pediatric surgical disease in Africa are limited by the absence of population-based data. The objective of this study was to estimate both the prevalence and the disease burden of several common congenital surgical malformations among children in Kenya. Community volunteers randomly surveyed households at sites across Kenya. Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including club foot, hypospadias, hydrocephalus, spina bifida/encephalocele, cleft lip, bladder exstrophy and imperforate anus. DALYs were then calculated based on life expectancy tables and published and estimated disability weights for the conditions encountered. The caregivers of 5559 children (54% female) were surveyed in 1909 households, 56% of which were rural, 31% suburban and 12% urban. The overall prevalence of congenital malformations was 6.3 per 1000 children, amounting to 54-120 DALYs per 1000 children, depending on the life tables used. The most prevalent condition in the survey was club foot, whereas spina bifida had the highest burden of disease. This study is the first to document the prevalence of selected surgical congenital malformations among children in Kenya and the burden of disease associated with them. The results will serve to inform strategies aimed at reducing the unmet burden of surgical disease in resource-limited regions.

Surgical congenital central nervous system anomalies in a tropical teaching hospital

Background. Surgical congenital malformations of the central nervous system (CNS) are structural defects with potential for morbidity and mortality more so if intervention is delayed. Aim. To determine the frequency and pattern of surgical CNS anomalies in our region. Methods. We carried out a hospital-based prospective observational study of all consecutive children who presented to our unit over a 2-year period. Brain computerised tomography and/or magnetic resonance imaging was performed on all patients suspected of having cranial CNS abnormalities. Results. There were 94 children with surgical congenital anomalies of the CNS during the study period, with a male to female ratio of 1:1.1. There was no parental consanguinity in all the cases neither were there any history of preconception use of folic acid in all the mothers of the patients. Prenatal ultrasound was done after the first trimester in 91 cases (97%), but anomaly was noted in only 23 cases (25.3%). Eighty-six percent of the patients presented after the first month of life. Though there was a general delay in presentation, patients with neural tube defect tended to present much earlier compared to others (p = 0.005). Likewise, patients with spinal anomalies tend to be seen much earlier. Conclusions. Late presentation of CNS anomalies is still the norm in our region. The result makes a case for an aggressive approach to periconceptional folic acid supplementation for our women and policy to encourage fortification of a staple food with folic acid. A nationwide effort to fully clarify the epidemiology is needed so as to indicate where the community and governmental resources, including educational efforts should be directed.

Case Studies in Breastfeeding Success for Infants With Congenital Surgical Anomalies

Infants born with complex surgical anomalies require extensive intervention and treatment and have high medical care costs during short-term initial hospitalization. Based on what is known regarding the health benefits of human milk and the critical needs of these infants, lactation support of the maternal infant dyad must be a priority. Infants born with complex surgical anomalies require different and more intensive lactation support so that they receive the benefits of human milk.

An Innovative Model for Achieving Breast-feeding Success in Infants With Complex Surgical Anomalies

This manuscript describes an innovative nurse-driven continuous quality improvement project. Infants born with congenital surgical anomalies face significant challenges within the newborn period and human milk/breast-feeding may not be viewed as a priority. In many hospitals, nurses refer families to lactation consultants for all breast-feeding assistance and support. The Transition to Breast Pathway was developed on the basis of the evidence-based standards and protocols at The Children's Hospital of Philadelphia. The pathway consists of (1) initiation of pumping and maintenance of milk supply, (2) mouth care with human milk, (3) skin-to-skin care, (4) nonnutritive sucking at the breast, (5) transitioning to at breast feeds. A sample of 80 infants were enrolled in this project. Major results of the project are as follows: (1) mother's average milk supply was approximately 603 mL/d, (2) 71% (57/80) of the infants received mouth care with human milk, (3) 48% (38/80) mother/infant dyads performed skin-to-skin care, (4) 60% (35/58) of mother/infant dyads performed nonnutritive sucking at the breast, (5) 100% (58/58) of mother-infant dyads transitioned to breast prior to discharge. This continuous quality improvement project demonstrates that nurses can and should lead the process of transitioning infants to at breast feeds.