Management Of Congenital Anomalies Research Articles

Maxillofacial Microvascular Free-Flap Reconstructions in Pediatric and Young Adult Patients-Outcomes and Potential Factors Influencing Success Rate.

Background: Maxillofacial microvascular free-flap reconstructions are significant interventions in the management of congenital defects, traumatic injuries, malignancies, and iatrogenic complications in pediatric and young adult patients. Craniofacial disorders within this demographic can result in profound functional, cosmetic, and psychosocial impairments, highlighting the critical need for thorough investigation into factors that may influence procedural success and postoperative quality of life. This retrospective chart review aims to examine the outcomes and potential influencing factors, aiming to offer valuable insights into optimizing the effectiveness of these reconstructions and improving patient outcomes. Methods: A single head and neck surgical team performed all the included 136 procedures. Demographic and surgical patient data were recorded. Type of transfer performed in each recipient site and major complications were analyzed. Relevant influencing factors, such as age, gender, and etiology of defect were determined using the ANOVA test and χ2 test of independence. Results: The results indicate a 90% success rate. No significant relationship was found between the incidence of total flap loss and patient age, etiology, or graft source. The maxillary reconstructions showed a higher incidence of total flap loss compared to mandibular reconstructions (11 vs. 3 cases). Conclusions: Despite the high success rate, the findings underline the necessity for further research to validate these observations and enhance surgical methods for pediatric and young adult patients.

Our experience with management of congenital urological pathologies in adulthood: What pediatric urologists should know and adult urologists adopt in pediatric practice experience.

To summarize our experience in the management of congenital anomalies in the kidney and urinary tract (CAKUT) in adults. We conducted a retrospective chart review of all adult patients who underwent primary surgical intervention for CAKUT between 1998 and 2021. The study included 102 patients with a median age of 25 (interquartile range, 23-36.5). Of these, 85 (83.3%) patients reported normal prenatal ultrasound, and the remaining 17 (16.7%) patients were diagnosed with antenatal hydronephrosis. These patients were followed-up conservatively postnatally and were discharged from follow-up because of the absence of indications for surgical intervention or because they decided to leave medical care. All studied adult patients presented with the following pathologies: 67 ureteropelvic junction obstructions, 14 ectopic ureters, 9 ureteroceles, and 6 primary obstructive megaureters, and the remaining 6 patients were diagnosed with vesicoureteral reflux. Forty-three percent of the patients had poorly functioning moieties associated with ectopic ureters or ureteroceles. Notably, 67% of patients underwent pyeloplasty, 9% underwent endoscopic puncture of ureterocele, 3% underwent ureteral reimplantation, 6% underwent endoscopic correction of reflux, 7% underwent partial nephrectomy of non-functioning moiety, and the remaining 9% underwent robotic-assisted laparoscopic ureteroureterostomy. The median follow-up period after surgery was 33 months (interquartile range, 12-54). Post-operative complications occurred in 5 patients (Clavien-Dindo 1-2). Patients with CAKUT present clinical symptoms later in life. Parents of patients diagnosed during fetal screening and treated conservatively should be aware of this possibility, and children should be appropriately counseled when they enter adolescence. Similar surgical skills and operative techniques used in the pediatric population may be applied to adults.

The efficiency of using maternal markers in early detection and management of congenital anomalies in Majmaah city, KSA

Nowadays the serum analytic investigations have become the first step, noninvasive, detecting method of choice of foetal abnormalities specially for at-risk patients.This study volenteers were Saudi pregnant women in King Khalid General Hospital (KKGH) at Majmaah city, Riyadh, Saudi Arabia.The study intended to judge and evaluate using the concentrations of Beta Human Chorionic Gonadotropin (βHCG) in serum as efficient maternal markers for early detection as well as management of foetal abnormalities and pregnancy complications.A total of 201 serum samples were studied. 101 sera of pregnant women were taken in the first trimester, while the other 100 non-pregnant females were acted as control volenteers. The sensitive Enzyme immunoassay (ELISA) method was applied for quantitative scoring of beta HCG levels. Pregnant women were followed up by a consultant obstetrician till delivery. Trisomy 21 and blighted ovum disorders were selected as cases of interest.Serum βHCG concentrations multiple of median (MoM) for the mothers of affected babies compared with the healthy ones. Defrences were significant as p: value showed 0.001 for each appraisal.Non-pregnant serum beta HCG (2.1 IU/ml) compared with only three weeks of gestation (576 IU/ml) for early detection of pregnancy. Upon comparison a significant high level of β HCG was recorded for the three weeks gestation with (p,value:0.001) which clearly indicates the existence of pregnancy.The use of β HCG could be the method of choice for early detection of pregnancy. This will save the embryo life during the first trimester of gestation especially in the radiology departments.

Challenges in the Management of Congenital Malformations in Infants: A Single Centre Experience

Background: Congenital malformations are structural anomalies that occur during intra-uterine life that may be identified before or at birth or later in life. Materials and Methods: This was a retrospective evaluation of the challenges encountered during the management of children with congenital anomalies at the pediatric surgery unit of Enugu State University Teaching Hospital (ESUTH), Enugu, Nigeria. Diagnosis of congenital anomalies was made based on clinical and radiological findings. Results: A total of 104 infants with congenital anomalies were evaluated during the study period. There was male predominance and majority of the patients were neonates. Seven days and 3 days were the mean age at diagnosis and median interval before presentation respectively. Hypospadias was the most common congenital anomaly and surgical site infection was the most common post-operative complication. Mortality occurred in about one-third of the patients. The general challenges encountered in the management of these patients could categorized as patient related, surgeon related or facility related. Conclusion:In developing countries, management of congenital anomalies is challenging and is fraught with difficulties. Modifiable factors such as late presentation and provision of facilities will improve outcome.

Risk-based stratification triaging system in pediatric urology: what COVID-19 pandemic has taught us.

Introduction and objectiveSARS-COV-2 pandemic has affected the population worldwide requiring social distancing, quarantine and isolation as strategies to control virus propagation. Initial measures to reduce the burden to the health care system during the pandemic included deferring elective surgery. These damage control measures did not take into account the mid- and long-term implications. Management of congenital anomalies can be time sensitive with delays resulting in permanent disability, morbidity and increased costs to the healthcare system. This study reports the results of using a novel scoring system that enables triage of time sensitive congenital anomalies and pediatric surgical conditions and how implementation of Enhanced Recovery After Surgery (ERAS®) principles allowed optimization of resources and reduced the burden to the system while allowing for appropriate care of pediatric patients with urgent urologic surgical conditions.MethodsWe present a prospective case series of patients with congenital urological conditions scheduled and taken to surgery during COVID-19 pandemic. All pediatric urology cases that were pending and or scheduled for surgery at the moment the pandemic struck as well as all cases that presented to the emergency department with urological conditions were triaged and included for analysis using a modified Medically Necessary, Time-Sensitive Procedures: Scoring System (MeNTS). A modified MeNTS was implemented for pediatric patients, giving more priority to the impact of deferring surgical intervention on patient’s prognosis. An individualized evaluation using this scoring system was applied to each patient. Intra- and postoperative ERAS® principles were applied to all cases operated during the pandemic between March 20th and April 24th to reduce the burden to the healthcare system.ResultsA total of 49 patients were triaged and included for analysis with a mean age of 6.47 years of age. Adjusted MeNTS showed that all clinically emergent cases had a score of 12 or less. Cases that could be postponed for 2 weeks but no longer had a score between 13 and 15. The ones that could wait 6 weeks or longer had scores higher than 16. Score results were not the same for similar procedures and individualized assessments resulted in scores based on an individual patient’s conditions. From the total cases, implementation of ERAS® principles increased outpatient procedures from 68 to 90.4%.ConclusionOur results provide a novel triaging method to rank pediatric urological surgical management based on individualized patient’s clinical conditions. Cutoff values of 12 and 16 allowed appropriate triage preventing the postponement of urgent urologic cases during the COVID-19 pandemic. Implementation of ERAS® principles allowed for these procedures to be done in the outpatient setting, preserving valuable healthcare resources.Type of studyProspective cohort study.Level of evidenceIV.

Late termination of pregnancy for fetal anomalies: Experience at a tertiary-care hospital in South Africa

Background. Early diagnosis and appropriate management of congenital anomalies can help prevent neonatal morbidity and mortality. Termination of pregnancy for severe congenital anomalies is permitted under South African law. Objective . To determine factors causing delayed diagnosis of lethal congenital abnormalities requiring late termination of pregnancy at Steve Biko Academic Hospital in Pretoria, South Africa. Methods. Medical records of pregnant women who presented with lethal fetal anomalies over a period of 7.5 years were analysed. Patients’ demographic profile, the interval from referral to feticide, gestational age at first scan and diagnosis, type of anomaly and feticide methods were considered. The cohort was divided in two groups based on timing of termination (i.e. earlier than 28 weeks and later than 28 weeks’ gestation) for statistical comparison. Results. The majority of women ( n =45; 78.9%) were younger than 35 years and had no chronic medical conditions or risk factors ( n =40; 70%). Although 30 women (52.6%) had been booked for antenatal examination early in their pregnancy, only three (5.2%) had a first-trimester scan. Mean time to referral was not significantly different between the women whose pregnancies terminated earlier than 28 weeks and those with a termination after 28 weeks ( p =0.671). Conclusion. A basic ultrasound scan in the second trimester is recommended for all pregnant women. Task shifting can be a viable option to provide this facility at primary and secondary health centres. A national registry should be established to document all late terminations for fetal anomalies.

Impact of Material Serum Screening in Early Prenatal Diagnosis and Management of Congenital Anomalies

It was performed a case-control study, that included totally 187 pregnant women hospitalized in Obstetrical-Gynecology Department of Prof. Dr. Panait Sarbu Hospital, Bucharest, Romania. The selection criteria for case sample were: age over 30 years, history of malformative risk, clinical exam that emphasised malformations and ultrasound examination that suspicioned embrio-fetal morphological abnormalities. We determined the serum levels of alpha fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol (uE3), by immunoenzymometry. As statistical analysis we determined the estimated median value. For each of the three parametres, the final curve was compared with the value obtained by spectrophotometry. The study revealed the predictive value of correlated use of these three parameters, together with ultrasound examination and cytogenetic investigations, in order to early prenatal diagnosis of congenital fetal anomalies.

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...

Role of Nuchal Translucency in Detection and Management of Congenital Anomalies in First Trimester Sonography in Developing Countries

Variation of Nuchal Translucency (NT) measurements with increasing Crown-Rump Length (CRL). To correlate Nuchal Translucency with pregnancy outcome and clinical assessment of newborn for congenital anomalies. Antenatal ultrasound scanning done on pregnant women with singleton pregnancies and the fetal NT thickness was measured between 11 weeks and 13 weeks 6 days of gestation. Ultrasound probe used for transabdominal scanning was curvilinear probe with frequency band width of 3.5-5MHz. During the 11-13+6 weeks scan, the foetal CRL, Nuchal translucency, any structural abnormalities in the foetus, uterine anomaly, adnexa, cervix and the internal os were noted. In our study, we have done NT scan from 11 - 13+6 weeks of gestation; the mean examination time of the NT scan was 87.97 (12weeks 3days) standard deviation (SD)= 4.832. Subject study with high NT is 186 (16.6%) with 98.6% accuracy of association with congenital anomalies. Subject study with low NT is 936 (83.4%) with 99.8% of the babies born with no congenital anomalies. NT measurements increase with increasing CRL and a false positive rate increases with increasing gestational age. There is a strong association with high NT values and congenital anomalies.

Atrioventricular Septal Defect with Common Atrioventricular Junction Guarded by a Common Valve Consisting of Left Atrioventricular Trifoliate Valve

Introduction:Atrioventricular septal defect with common atrioventricular junction is a rare adult congenital cardiac syndrome. This occurrence with prolonged survival is exceptionally rare.Case report:We present the case of a patient who presented with this defect with common atrioventricular junction who survived to the age of 32. We describe a 32-year-old man with atrioventricular septal defect with common atrioventricular junction guarded by a common valve. His history, clinical course, and anatomic findings are discussed along with the factors which may have contributed to his longevity, which is unique in the medical literature. His management reflected the state of medical knowledge at the time when he presented, and although alternate approaches may have been utilized if the patient presented today. We discuss the findings, frequency, classifi cation, and management of congenital defects. Development of embryonic structure is altered by interaction between genetics and environmental factors toward a rare associated of congenital cardiac defects-complex congenital heart disease.Conclusion:This case demonstrates that patients with very complex congenital cardiac disease may survive to adulthood, presenting challenges in both medical and surgical treatment.

Fetal MRI: is it really helpful?

Objective: The aim of this study is to emphasize on the diagnostic effectiveness of fetal MRI that led to increased utilization in fetal medicine as well as its value in prognosis and decision making in the modern obstetric practice. Methods: One hundred five (n = 105) pregnant women were referred for a fetal MRI examination after a high detailed ultrasound examination revealed a fetal abnormality. Fetal MRI was performed using 1, 5 Tesla units, with T1, T2-weighted and diffusion-weighted images. The findings were analyzed in comparison to the previous ultrasound findings, according to the fetal organ affected and the value of the MRI for therapeutic decision making was addressed. A statistical analysis was performed. Results: The fetal MRI provides a more accurate diagnosis compared to ultrasound examination, and when the ultrasound detects fetal anomalies, the MRI can efficiently either confirm or reject the finding, proving its high value for prenatal diagnosis and perinatal and management. The sensitivity, specificity and positive predictive value of fetal MRI as a screening tool approaches 100%. Conclusions: Despite the fact that ultrasound is the method of choice for fetal screening, MRI can add up significantly to the diagnosis and management of congenital abnormalities and the indications for MRI continue to increase as new sequences and shorter acquisition times evolve.

Postnatal management of newborn with antenatal detected urinary tract abnormalities

The goals of postnatal management of congenital anomalies of the kidneys and the urinary tracts are two: The first to distinguish between patients (the minority) who are at risk for renal parenchyma damage, from neonates (the majority) who have not consequences to renal functionality; the second to avoid for healthy infant strenuous follow-up, painful diagnostic procedures, and unnecessary anxiety for their parents.

Fetal magnetic resonance imaging: a review

To describe advances in magnetic resonance technology and the current indications and advantages of magnetic resonance imaging that have led to increased utilization in fetal medicine. The article covers the most common uses of magnetic resonance imaging in fetal medicine. The advantages of magnetic resonance imaging for the diagnosis of fetal malformations are described, in particular the advantages of magnetic resonance imaging in central nervous system malformations not optimally diagnosed by ultrasound are described. These cases include malformations of migration, malformations of development, such as agenesis of the corpus callosum, and destructive lesions. Noncentral nervous system lesions include chest abnormalities, abdominal wall defects, gastrointestinal and genitourinary abnormalities and fetal neoplasms. Abnormalities of placentation and other maternal factors affecting pregnancy are shown. Recent studies have shown that magnetic resonance imaging can add significantly to the prenatal diagnosis and management of congenital abnormalities. In addition, placental abnormalities have been diagnosed with greater accuracy.

Stahl Syndrome in Clinical Practice

In the current medical climate, it has become very difficult to develop a large experience in the management of congenital anomalies, especially extremely rare ones such as Stahl syndrome. Irregardless, we all can learn something helpful using some of the tips and techniques described by Giuseppe Andrea Ferraro and colleagues to perfect our own otoplasty results. Stahl syndrome is very apparent, with the irregular curvature secondary to the additional trifurcating crus [1,2]. As with other ear deformities, the thickness of the cartilage, the musculature of the ear, and the overlying skin relative to the surface area also contribute. What I find refreshing in this article is the ‘‘keeping it simple approach with a focused excision of aberrant cartilage ala Chongchet [1], redraping of skin, and use of the excised cartilage to splint the area. Most important, I enjoyed the tried and true use of a postoperative customized splint to maintain the new skin and cartilage position. We all have seen the benefits of appropriate stenting, either to correct newborn lop ears or cleft nose (nasoalveolar molding) or postoperatively to maintain a curved septum or to help shape a skin graft [3]. All too often we minimize our effort with the postoperative dressing. For years, I have used elastic gauze (Spandage) for facial and skull dressings, and agree that patients love it because it is less constricting, easier to access, and more effective than classic mastoid dressings. The surgical modifications described in the article differ from Chongchet’s reconstruction by eliminating an anterior incision and using the resected cartilage to help reconstruct and maintain the dead space. Although the series was small, I enjoyed the focused simplified approach and the great use of customized splints and simplified dressings to maintain results and increase patient compliance. It is clear that to get a predictable result, appropriate diagnosis and focused treatment are essential. The authors should be complimented for their direct minimal approach to the correction of a significant problem.

Congenital malformations in paediatric and neurosurgical practices: problems and pattern (A preliminary report)

Aim: To determine the pattern and identify problems and outcome of management of congenital anomalies in Ilorin, Nigeria. Methodology: We retrospectively studied all children presenting over a 5-year period (1998 to 2002) with congenital anomalies to the Paediatric Surgery and Neurosurgery units of the University Teaching Hospital, Ilorin, Nigeria. Clinical data abstracted and analyzed include age, type of congenital anomaly, management, complications and outcome. Results: There were 803 children with various systemic congenital malformations. Of these, 588 (73.2%) were operated, constituting 54.4% of the total operations performed on children (1080) during the study period. Malformations of the gastrointestinal tract (536) including hernias (317), anorectal malformations (61), Hirschsprung\'s disease(45), and omphalocoeles(19), were the most frequent. Next in frequency were malformations of the central nervous system (114), the commonest being spinal dysraphism (50) and hydrocephalus (44). Less common malformations included urogenital (105) and biliary (3) anomalies as well as lesions of the neck (35), skin (8) and soft tissues(2). The overall mortality rate of 3.4% (20/586) was predominantly due to the deaths of infants with oesophageal atresia, gastroschisis, and ruptured myelomeningocoele. Conclusion: The commonest systemic congenital malformations encountered by the paediatric and neurosurgical units in this center are in order of decreasing frequency gastrointestinal, central nervous and genitourinary. Keywords : congenital malformation, pattern, management, outcome Sahel Medical Journal Vol. 8(1) 2005: 4-8

Medical management of congenital anomalies of the kidney and urinary tract

Renal damage in children has been found to be more congenital in origin than was previously thought. Congenital anomalies of the kidney and urinary tract (CAKUT) involve renal dysplasia, renal hypoplasia, urinary tract obstruction and vesicoureteral reflux. CAKUT are sometimes bilateral and different types often coexist. Depending on their types and severity, children with CAKUT often have varying degrees of a reduced number of nephrons at birth. CAKUTare now the leading cause of renal failure in children. Children with renal dysplasia or obstructive uropathy may have abnormal renal tubules, and tend to lose essential water and sodium in urine. This can lead to poor body growth unless they are supplemented with water and sodium. Children with severe ureteric reflux often develop urinary infection and renal scarring. Renal scarring can further increase the risk of renal failure in children who already have other CAKUTand fewer nephrons than normal. Hypertension and proteinuria may develop in children with renal dysplasia and further aggravate renal function unless they are treated. Recent advances in the understanding and management of CAKUT make it possible for children with CAKUT to grow normally, have fewer complications such as urinary infection, have longer renal survival, and survive even with end-stage renal diseases through renal replacement therapy.

Congenital hand anomalies: Principles of management

Congenital anomalies of the hand present as challenges to the hand surgeon. To handle these problems well, the surgeon must analyze the complexity of the problem, set the right priorities, choose the right timing for intervention, apply a multitude of techniques, and plan ahead for rehabilitation. Any reconstruction must not do any harm. Reconstructions have their limitations; either too optimistic or too conservative would bring inferior results. The functional consideration is far more important than structural restoration. With the admirable ability of the small children to adapt to structural defects, one expects reasonable functional achievements even with limited structural restorations. The diversity of problems, the complexity of planning, and the demand for surgical skills in the management of congenital anomalies are well illustrated in two examples, Thumb Deficiency and Radial Club Hand. Copyright © 2002 by the American Society for Surgery of the Hand

The fetal cleft palate: III. Ultrastructural and functional analysis of palatal development following in utero repair of the congenital model.

The role of fetal surgery in the management of congenital anomalies and intrauterine abnormalities is appropriately restricted on the basis of feasibility and risk-to-benefit analyses of intrauterine intervention. Recently, the authors demonstrated that in utero cleft palate repair of the congenital caprine model is technically feasible and results in scarless healing of the mucoperiosteum and velum, with subsequent development of a potentially functional bilaminar palate with distinct oral and nasal mucosal layers, following single-layer repair of the fetal mucoperiosteal flaps. A slight indentation at the site of repair was the only remaining evidence of a cleft. At 6 months of age, normal palatal architecture, including that of mucosal, muscular, and glandular elements, was seen grossly and histologically. The present work investigated the ultrastructural and functional aspects of the palate following in utero cleft repair to determine what benefits might be derived from fetal intervention. Six goats pregnant with twins were gavaged twice daily for 10 days (gestational days 32 to 41; term, 145 days) with dry, ground Nicotiana glauca plant delivering between 2.4 and 14 mg/kg per day of anabasine, doses that were adjusted in response to mater-nal toxicity. At 85 days' gestation, six fetuses underwent in utero palatoplasty using a modified von Langenbeck technique with elevation of bilateral mucoperiosteal flaps and lateral relaxing incisions. A single-layer repair of the mucoperiosteal flaps was performed using interrupted 6-0 Vicryl sutures. Six fetuses remained as unrepaired clefted controls. Six months after in utero palatoplasty, each group of goats underwent nasoendoscopy to evaluate palatal function; two unclefted 6-month-old goats served as controls. Subsequently, soft palate muscle was harvested from each of the goats and was evaluated by light and electron microscopy. Velar muscle was also harvested from the unclefted control goats and was similarly studied. Nasoendoscopy demonstrated functional palates capable of dynamic velopharyngeal closure following in utero cleft repair; this motion was similar to that observed in unclefted animals. Unrepaired clefted goats did not demonstrate any evidence of velar motion or velopharyngeal closure. Soft palate muscle from this group demonstrated evidence of myofibril degeneration, atrophy, and loss compared with unclefted control velar muscle. Ultrastructural changes included sarcomere "scalloping, " partial Z-line degeneration and loss, and progressive I-band degeneration and loss. Repaired clefted soft palate muscle was remarkably similar to unclefted control muscle. Significantly less myofibril, Z-line, and I-band degeneration and loss were observed with minimal evidence of sarcomere scalloping. In utero cleft palate repair results in a functional soft palate with restoration of ultrastructural architecture of the velum. These findings were attributed to reconstitution of the velar muscular sling, which is disrupted during the clefting process and remains abnormally inserted into the posterior edge of the palatal bone and along the bony cleft. Although repaired velar muscle does demonstrate some evidence of ultrastructural change compared with control muscle, these findings are significantly less pronounced than those observed in the unrepaired clefted muscle.

Diastematomyelia

The role of the plastic surgeon in the diagnosis and management of congenital anomalies is often a complicated one that involves the integration of input from numerous specialists into the evaluation process. Diastematomyelia is a serious neurosurgical problem that often presents with cutaneous findings in a neurologically asymptomatic patient. Early recognition of these cutaneous manifestations by the plastic surgeon, evaluation with an MRI scan, and consultation with a pediatric neurosurgeon can prevent delayed diagnosis of this surgically correctable anomaly and irreversible neurologic sequelae.

ABC of antenatal care. Detection and management of congenital abnormalities--II.

ABC of antenatal care. Detection and management of congenital abnormalities--II.