Structural Congenital Malformations Research Articles

Unraveling Patterns of Congenital Structural Malformations in Infants: A Hospital-Based Descriptive Study.

Introduction Congenital malformation studies serve several purposes, including establishing baseline rates, monitoring changes over time, exploring the origins of these defects, and helping in planning health services. Increasing public awareness about pediatric surgical interventions is another goal of these studies. However, the impact of congenital malformations is often underestimated in developing countries due to insufficient healthcare data and diagnostic facilities, particularly in rural areas. Families affected by the birth of a child with congenital malformations face significant stress and hardship. Methods The main aims of this study were to evaluate the clinical pattern of congenital structural malformations in our region (Uttarakhand, India), identify possibly associated factors of congenital malformations, and find out the immediate outcome of congenital malformations in enrolled participants. Results Among a total of 150 cases, 73 (48.7%) cases were inborn, whereas 77 (51.3%) cases were outborn. Investigation of congenital malformation revealed cleft lip or palate in 37 (24.7%) cases, congenital heart disease (CHD) in 33 (22%) cases, meningomyelocele (MMC) in 18 (12.0%) cases, anorectal malformation (ARM) in 11 (7.3%) cases, hypospadias in 10 (6.7%) cases, congenital talipes equinovarus (CTEV) in nine (6.0%) cases, tracheoesophageal fistula (TEF) in nine (6.0%) cases, polydactyly in seven (4.7%) cases, pelviureteric junction obstruction (PUJO) in four (2.7%) cases, duodenal atresia in three (2.0%) cases, midgut volvulus in three (2.0%) cases, umbilical sinus in two (1.3%) cases, sacrococcygeal teratoma (SCT) in one (0.7%) case, phimosis in one (0.7%) case, microtia in one (0.7%) case, and micrognathia in one (0.7%) case. Mortality was observed in 11 (7.3%) cases, whereas 105 (70%) cases were successfully discharged. Among 11 mortality cases, the cause of death was CHD in seven (63.2%) cases, TEF+CHD in two (18.1%) cases, MMC in one (9%) case, and duodenal atresia in one (9%) case. Conclusion Contrary to the common belief that advanced maternal age of greater than 35 years is a major cause, 86.6% of the congenital structural anomalies in our hospital-based study in Uttarakhand occurred in babies of mothers belonging to the age group of 18-30 years. Also, consanguineous marriage was observed in only 3.3% of cases, indicating that it may not be a major contributing factor causing congenital structural malformations in our region.External congenital anomalies are most commonly observed (60.7%), with cleft lip and cleft palate being the most common.The most frequently observed internal congenital anomaly is CHD (22%) followed by gastrointestinal (GI) (18.6%) and urinary anomalies (10.1%).Death and referral are commonly seen in CHD.

Real-world prevalence, time of diagnosis, and co-occurrence patterns of birth defects in live-born infants, 2014-2020: A health administrative database study in Japan.

A study evaluating the real-world prevalence of birth defects (BDs), including co-occurrence patterns, will provide the information required to estimate Japan's true BD prevalence and monitor it. Information such as when infants are diagnosed with BDs is crucial for defining the study population and data collection period in future administrative database studies. This study utilized the DeSC database, a large claims database comprising multiple health insurance schemes. The prevalence of major BDs, including structural congenital malformations (CMs) and chromosomal abnormalities, was determined in infants born between 2014 and 2020 and continuously insured for ≥1 year. The time of the first BD diagnosis and multiple BD patterns were also evaluated. Among 43,147 infants, 3050 (7.07%) were diagnosed with major BDs, and 3002 (6.96%) with major CMs. The circulatory system (2.95%) was the most frequent organ system affected by CMs, followed by CMs and deformations of the musculoskeletal system (1.94%). The cumulative diagnostic rates of BDs and CMs at month 6 were 85.9% and 85.6%, respectively. The EUROCAT BD subgroups diagnosed in more than 1.0% of the infants were atrial septal defects (1.47%) and patent ductus arteriosus (1.07%). Among the 2997 infants with EUROCAT BDs, 241 (8.04%) were classified as having multiple BDs. A large claims database is a valuable resource for evaluating and monitoring the prevalence of BDs, including multiple patterns. At least 1 year since birth should be considered in future administrative database studies evaluating BDs as outcomes.

Study on the value of the prenatal-postnatal integrated management model in the screening, diagnosis, and treatment of fetal heart malformations.

With the development and widespread use of fetal ultrasound and magnetic resonance technology in recent years, approximately 75% of fetuses are diagnosed prenatally with congenital structural malformations, a serious birth defect that endangers the life and health of the newborn. In this study, we aimed to study and analyze the value of the prenatal-postnatal integrated management model in the screening, diagnosis and treatment of fetal heart malformations. All pregnant women who were to undergo delivery in our hospital between January 2018 and December 2021 were recruited as the first subjects in this study, and after excluding those who refused to participate in the study, a total of 3,238 cases were finally included as subjects of this study. All pregnant women were screened for fetal heart malformations using the prenatal-postnatal integrated management model. Maternal files were established for all cases of heart malformations, grading the fetuses according to their heart disease grade, observing and recording their deliveries, treatment results and follow-ups. After screening for heart malformations using the prenatal-postnatal integrated management model, 33 cases of heart malformations were identified, including 5 cases of Grade I (all delivered), 6 cases of Grade II (all delivered), 10 cases of Grade III (1 induced), and 12 cases of Grade IV (1 induced); 2 cases of ventricular septal defect healed spontaneously after delivery, and 18 infants were treated accordingly. The results of the later follow-up showed that 10 children had normalized their heart structure, 7 cases had slight alterations in the heart valves, and 1 case died. The prenatal-postnatal integrated management model is a multidisciplinary cooperation model with certain clinical value in the screening, diagnosis and treatment of fetal heart malformations, which is beneficial to comprehensively improve the ability of hospital physicians in the grading management of heart malformations, detecting fetal heart malformations early and predicting fetal changes after birth. It further reduces the incidence of serious birth defects, conforms to the development trend of the diagnosis and treatment of congenital heart diseases, enables to reduce child mortality with timely treatment, effectively improves the surgical prognosis of critical and complex congenital heart diseases, with a promising application prospect.

Frequency and structure of congenital fetal malformations in the new socioeconomic conditions

Aim. To identify the frequency and the structure of congenital malformations in the new socio-economic conditions of the region for the period betwee 2014-2018.Material and methods. Annual statistical data of form 32 “Report on the provision of medical care to pregnant women, women in labor and newborns”, approved by No. 54 of 11.11.2014, of the Center for Medical Statistics and Information of the Ministry of Health and Social Protection of the Republic of Tajikistan for the period 2014-2018 were analyzed.Results and discussion. In the new socio-economic conditions of the country, a high frequency of congenital malformations has been established, which has an unstable tendency to decrease. The findings indicate that congenital malformations occur mainly among premature newborns, while lesions of the central nervous system prevail. Defects of the cardiovascular system prevail among full-term infants, which is possibly associated with the late diagnosis of the pathology.Conclusion. Perinatal screening will allow timely detection of congenital malformations of the fetus, reduce perinatal morbidity and mortality.

The Prevalence of Congenital Malformations and Anomalies of the Chest Organs and Systems among Adult Population of the Kabardino-Balkarian Republic

The objective: to assess the prevalence and structure of congenital malformations and anomalies of the chest organs and systems among adult population of the Kabardino-Balkarian Republic.Subjects. 1,729 patients with suspected respiratory tuberculosis examined from 2016 to 2021 inclusive in Differential Diagnostic Department of TB Dispensary by the Ministry of Health of the Kabardino-Balkarian Republic.Results. In 89 (5.1%) patients, congenital anomalies and malformations of the chest organs and systems were detected, 42/89 (47.2%) had one more concurrent respiratory pathology; oncological diseases (42.9%) and respiratory tuberculosis (23.8%) prevailed. In patients with malformations of the musculoskeletal system of the chest organs, tuberculosis was more often detected, oncological diseases were equally frequent in patients with malformations of the musculoskeletal system and mediastinum.

Epidemiological characteristics of congenital malformations: data from the Moscow Region register

The aim of this work is to analyze the epidemiology of congenital malformations in different populations in comparison with the data of the regional register of congenital malformations of the Moscow Region. The article provides a brief description and results of the work of international organizations that collect and analyze data on the prevalence and structure of congenital anomalies — EUROCAT (European network of population-based registries for the epidemiological surveillance of congenital anomalies) and ICBDSR (The International Clearinghouse for Birth Defects Surveillance and Research). For countries where there are no monitoring systems for congenital malformations recording, the Modell World Database of Congenital Diseases (MGDb) has been developed, which makes it possible to calculate the estimated population prevalence of congenital malformations in these regions. According to international registers, the most common groups of congenital malformations are malformations of the cardiovascular, genitourinary, central nervous systems and malformations of the extremities. To date, the epidemiological picture of the prevalence and structure of congenital malformations around the world looks stable.The article analyzes data from the population-based register of congenital malformations in the Moscow Region from 2011 to 2019, with a coverage of 83% of births in the region. The overall prevalence of congenital malformations was 25.42 per 1000 births. It is determined that the structure of congenital malformations in the Moscow Region is comparable to the data of international studies, but one should pay attention to the lower frequency of most groups of malformations, which is most likely due to insufficient registration of malformations. The Moscow Region register of congenital malformations provides relevant and qualitative data on the frequency and structure of the congenital malformations in the region, which allows, if necessary, to extrapolate obtained prevalence rates to other constituent entities of the Russian Federation as well.

Dynamics of the incidence of congenital malformations in children in Chelyabinsk based on the results of epidemiological monitoring in 2012–2017

Congenital malformations are not only a medical, but also a serious social problem, since this pathology is a leading cause of perinatal, neonatal, and infant morbidity, disability, and mortality.Purpose. To analyze the variation dynamics in the incidence of groups of congenital malformations, the structure of congenital malformations according to the average incidence, and the consistency of changes in the incidence of individual groups of congenital anomalies in children of Chelyabinsk based on the results of epidemiological monitoring in 2012–2017.Material and methods. To assess the frequencies of congenital malformations, we used the monitoring data of the Regional Medicaland Genetic Consultation Office in Chelyabinsk for the period from 2012 to 2017, for Down syndrome (T21) from 2012 to 2018. The total number of newborns over the six-year period was 102,308, of which 2101 children were registered with congenital malformations, including live-born, stillborn children, and fetuses with malformations identified through prenatal diagnostics. Clinical data on newborns was grouped into 11 congenital malformations categories based on the International Classification of Diseases. The statistical analysis of the monitoring results was carried out using methods of descriptive statistics, samples comparisons, correlation, and cluster analysis.Results. The incidence of all registered congenital malformations in newborns in Chelyabinsk was 20.7 per 1000 births (95% CI: 17.4–25.4) during the study period. In newborns of the Chelyabinsk city in 2012–2017, the prevalence of congenital malformations of the circulatory system (42.8%), chromosomal abnormalities (11.9%), and anomalies of the musculoskeletal system (10.3%) was observed. The relative frequency of Down syndrome for the period from 2012 to 2018 ranged from 1.51‰ to 2.42‰, considering both children born with this pathology and the data on prenatal diagnostics.Conclusion. The hierarchy of congenital malformations was reproduced from year to year with a predominance of circulatory anomalies, chromosomal anomalies, and musculoskeletal anomalies of the system. The overall incidence of all congenital malformations in Chelyabinsk in 2012–2017 does not exceed the average values for the Russian Federation, while the incidence of Down syndrome exceeded the average national level.

Effectiveness of analgesia with hydromorphone hydrochloride for postoperative pain following surgical repair of structural congenital malformations in children: a randomized controlled trial

BackgroundEffective postoperative analgesia is needed to prevent the negative effects of postoperative pain on patient outcomes. To compare the effectiveness of hydromorphone hydrochloride and sufentanil, combined with flurbiprofen axetil, for postoperative analgesia in pediatric patients.MethodsThis prospective randomized controlled trial included 222 pediatric patients scheduled for repair of a structural congenital malformation under general anesthesia. Patients were randomized into 3 groups: hydromorphone hydrochloride 0.1 mg/kg (H1), hydromorphone hydrochloride 0.2 mg/kg; (H2) or sufentanil 1.5 µg/kg (S). Analgesics were diluted in 0.9% saline to 100 ml and infused continuously at a basic flow rate of 2 mL per h. The primary outcome measure was the Face, Legs, Activity, Cry, and Consolability (FLACC) pain score. Secondary outcomes included heart rate (HR), respiration rate (RR), SpO2, Ramsay sedation scores, scores on the Paediatric Anaesthesia Emergence Delirium (PAED) scale, adverse reactions, parent satisfaction with analgesia.ResultsThe FLACC score was significantly lower in H1 and H2 groups compared to S. The Ramsay sedation score was significantly higher in H1 and H2 groups compared to S. Recovery time was shorter in H1 group compared to patients H2 group or S group. There were no significant differences in the PAED scale, HR, RR, SpO2, adverse reactions, satisfaction of parents with analgesia, or length and cost of hospital stay.ConclusionsHydromorphone hydrochloride is a more effective analgesic than sufentanil for postoperative pain in pediatric patients following surgical repair of a structural congenital malformation, however, hydromorphone hydrochloride and sufentanil had similar safety profiles in this patient population.Trial registrationChinese Clinical Trial Register ChiCTR-INR-17013935). Clinical trial registry URL: Date of registration: December 14, 2017.

Gene Environment Interactions in the Etiology of Neural Tube Defects.

Human structural congenital malformations are the leading cause of infant mortality in the United States. Estimates from the United States Center for Disease Control and Prevention (CDC) determine that close to 3% of all United States newborns present with birth defects; the worldwide estimate approaches 6% of infants presenting with congenital anomalies. The scientific community has recognized for decades that the majority of birth defects have undetermined etiologies, although we propose that environmental agents interacting with inherited susceptibility genes are the major contributing factors. Neural tube defects (NTDs) are among the most prevalent human birth defects and as such, these malformations will be the primary focus of this review. NTDs result from failures in embryonic central nervous system development and are classified by their anatomical locations. Defects in the posterior portion of the neural tube are referred to as meningomyeloceles (spina bifida), while the more anterior defects are differentiated as anencephaly, encephalocele, or iniencephaly. Craniorachischisis involves a failure of the neural folds to elevate and thus disrupt the entire length of the neural tube. Worldwide NTDs have a prevalence of approximately 18.6 per 10,000 live births. It is widely believed that genetic factors are responsible for some 70% of NTDs, while the intrauterine environment tips the balance toward neurulation failure in at risk individuals. Despite aggressive educational campaigns to inform the public about folic acid supplementation and the benefits of providing mandatory folic acid food fortification in the United States, NTDs still affect up to 2,300 United States births annually and some 166,000 spina bifida patients currently live in the United States, more than half of whom are now adults. Within the context of this review, we will consider the role of maternal nutritional status (deficiency states involving B vitamins and one carbon analytes) and the potential modifiers of NTD risk beyond folic acid. There are several well-established human teratogens that contribute to the population burden of NTDs, including: industrial waste and pollutants [e.g., arsenic, pesticides, and polycyclic aromatic hydrocarbons (PAHs)], pharmaceuticals (e.g., anti-epileptic medications), and maternal hyperthermia during the first trimester. Animal models for these teratogens are described with attention focused on valproic acid (VPA; Depakote). Genetic interrogation of model systems involving VPA will be used as a model approach to discerning susceptibility factors that define the gene-environment interactions contributing to the etiology of NTDs.

Laryngeal cysts in children

To analyze the features of the clinic, diagnosis and treatment of laryngeal cysts in children. The study included 68 children with laryngeal cysts aged from 3 days to 16 years (on average 39.5±37.0 months, Me=15.5 months). The cyst was localized in the vestibular region of the larynx in 15 (22.1%) patients, in the vocal region - in 15 (22.1%) patients, and in the sub-vocal region - in 38 (55.9%) patients. Data on the presence of a history of tracheal intubation were available in 35 (89.7%) children, including 35 (92.1%) of 38 children with a subfold cyst. 11 patients were admitted with a previously applied tracheostomy. The main reasons for going to the clinic were signs of laryngeal stenosis (stridor, signs of obstruction of the upper airways) in 60.3% of patients, dysphonia - in 33.8%, and in 5.9%, the detection of a cyst became an accidental finding. To eliminate the cyst, the method of laser marsupialization was used in 10 patients, coagulatory ablation - in 2 patients, in the remaining 56 patients, decortication was performed with microinstruments, followed by laser treatment of the cyst bed. In the follow-up, children were traced from 6 months to 7 years. We did not observe a recurrence of a cyst in any case. Currently, the lining department is the "favorite" localization of the cyst in childhood. Subclavian cysts are more common in preterm infants who need tracheal intubation. A necessary condition for radical elimination is the resection of the cyst walls.

Hospital Course and outcome for patients with Anorectal malformations (Bucket-handle deformity), a 3-year experience from Khartoum north teaching hospital (2016 -2019)

Introduction: Anorectal malformations are some of the most common structural congenital malformations treated by pediatric surgeons globally. A bucket-handle deformity is a subtype of it characterized by a subepithelial midline raphe fistula. The etiology has not been fully understood but it is more likely to be multifactorial; genetic and environmental factors implicated. The outcome of surgery depends on the clinical presentation, early diagnosis, other associated malformations, surgeon’s expertise and a post-operative follow up care. Objectives: To analyze and evaluate pediatric patients with Bucket-handle deformity in terms of their hospital course (insight into the pre, peri and post-operative course). Methodology: This study was done at Khartoum North Teaching Hospital in Khartoum; Sudan. The targeted population were all pediatric patients with this deformity in our pediatric surgery department. Data was collected using a data collection sheet filled by the in-charge surgeon in the period from (March 2016 - March 2019). Results: In 72 pediatric patients with Bucket-handle deformity included, 39 (54.2%) were males and 33 (45.8%) were females. The mean age for patients was 2.28 years and 2.3 years at the time of surgery. When it comes to their gestational age at time of delivery, almost of them (82%) were born at term and about (16.7%) were preterm and only a small fraction (1.4%) were post-term. Ten patients (13.9%) have other anomalies that mainly cardiac and only 3 (4.2%) have an associated family history of congenital anomalies. Only 9.7% of patients were septic on admission and they had a slightly longer pre-operative and post-operatively hospital course when compared to non-septic patients. The average number of days patients stayed in hospital pre-operatively was 6.56 days and 10.72 days post-operatively. Overall, there was no post-operative complications of urinary or fecal incontinence and there was no constipation in the 6 months period following the surgery. Conclusion: This study showed that all pediatric patients with Bucket-handle deformity in our pediatric surgery department had good surgical outcome with no post-operative complications despite having a relatively long pre-operative and post-operative hospital course. Recommendations: Although results were excellent regarding the surgery, further studies should be carried out to expand the literature regarding evaluation of pediatric patients with Bucket-handle deformity in terms of their hospital course. More efforts need to be put to optimize pediatric patients for surgery even before referring them to a specialized pediatric surgery unit for the goal of minimizing the duration of their admission course.

Non-invasive prenatal screening: experience in the Republic of Tyva

Diagnosis of congenital developmental anomalies and chromosomal abnormalities of the intrauterine fetus in early pregnancy can reduce infant mortality rates.The purpose of research:to evaluate the first results of the non-invasive prenatal test (NIPT) in the Republic of Tyva.Materials and methods.A retrospective analysis of the reports of the Federal State Statistics Service for the Republic of Tyva, the Ministry of Health and the Tyva Perinatal Center was carried out; monitoring data of congenital developmental anomalies in the republican medical genetic center.Results.Analysis of infant mortality in the Republic of Tuva for the period from 2000 to 2019 showed that with a steady decline in indicators (29.97.3), itslevel significantly exceeds the national average. One of the leading causes of infant mortality in the republic is congenital malformations, the frequency of which among newborns in Tuva is 12.633.4. Diseases caused by chromosome abnormalities make up from 4.3% to 1.2% in the structure of congenital malformations. In recent years, the number of women who underwent fetal pathology screening in the first trimester of pregnancy has been increasing in the republic (56.262.1%). According to combined screening, the detection of major chromosomal aneuploidies (Down, Edwards andPatau syndromes) is 2.16.6%. In all cases of positive screening, NIPT was performed, which has a higher specificity and sensitivity; the presence of chromosomal aberrations in the fetus was confirmed in 98.199.5% of cases.Conclusion.The introduction of widespread use of NIPT in the republic will increase the efficiency of detecting chromosomal abnormalities, reduce the number of invasive diagnostic interventions, avoid unjustified termination of pregnancy and reduce infant mortality.

Анализ динамики врожденных пороков сердца у новорожденных на территории Новосибирской области за 2015-2019 гг

Врожденные пороки сердечно-сосудистой системы (ВПС) выходят на первое место среди причин, приводящих к младенческой и детской смертности, а также инвалидности. По результатам проведённого исследования выявлено, что в структуре врожденных пороков развития 37,3% составляют ВПС. Средний срок выявления ВПР/МВПР методами пренатальной диагностики составил 23,9±2,3 недель беременности. Отмечается рост дефектов межжелудочковой перегородки на 118%, транспозиции магистральных сосудов на 61%, дефектов межпредсердной перегородки на 37% за период наблюдения. В структуре младенческой смертности ВПС составили 35,12%. Congenital malformations of the cardiovascular system (СHD) rank first among the causes leading to infant and child mortality, as well as disability. It was revealed that in the structure of congenital malformations in Novosibirsk region, 37.3% are CHD. The average term for prenatally detecting CHD was 23.9 ± 2.3 weeks of gestation. There was an increase of ventricular septal defects by 118%, transposition of great vessels by 61%, and atrial septal defects by 37% during the observation period. In the structure of infant mortality, CHD accounted for 35.12%.

Efeitos do uso dos anti-inflamatórios não esteroides na prevalência de malformações estruturais fetais

Objetivo: Avaliar o uso dos anti-inflamatórios não esteroidais (AINEs) na prevalência de malformações congênitas (MC) estruturais. Métodos: Estudo do tipo caso-controle, realizado em um hospital público referência em medicina fetal. Foi aplicado um questionário para avaliar os fatores sociodemográficos e obstétricos. A avaliação da morfologia fetal foi realizada através da avaliação ultrassonográfica. Resultados: Das 282 gestantes avaliadas, 28,72% (81/282) relataram uso de anti-inflamatórios durante a gravidez, sendo 75,1% (n = 60) do grupo caso e 25,9% (n = 21) do grupo controle. Entre os anti-inflamatórios, os mais utilizados foram nimesulida (17,38%; n = 49), diclofenaco (10,99%; n = 31) e ibuprofeno (3,19%; n = 9). O uso de AINEs em geral e específico (nimesulida, diclofenaco, ibuprofeno) não apresentou diferença entre os grupos. No entanto, foi observado o maior uso de ibuprofeno no grupo caso (4,46%; n = 9) vs controle (0%; n = 0) com OR = 7,904, p = 0,05. O uso de AINEs foi maior em gestantes que apresentavam fetos com MC da face (55,6%), parede abdominal (38,10%) e do sistema nervoso central (SNC) (30,30%). Conclusão: Embora não tenham sido observadas diferenças entre os grupos, o uso de AINES foi considerável em pacientes que tiveram feto com malformações fetais da face, parede abdominal e SNC. Devido à alta frequência de algumas malformações, especialmente as da face, deve-se ter o cuidado com a indicação e principalmente com a automedicação dessa classe medicamentosa durante a gravidez.

The Frequency and Structure of Congenital Malformations in Rural Populations of Southern Ukraine and the Role of Genetic and Demographic Factors in their Distribution

Lanovenko, E. G. The Frequency and Structure of Congenital Malformations in Rural Populations of Southern Ukraine and the Role of Genetic and Demographic Factors in their Distribution / E. G. Lanovenko, J. Fomina // Український журнал медицини, біології та спорту. Матер. ІV Міжнар. наук.-практ. конф. з міжнар. участю ”Проблеми, досягнення та перспективи розвитку медико-біологічних і спортивних наук”, 17-18 жовтня 2019 р. / Чорноморський нац. ун-т ім. Петра Могили. – Миколаїв, 2019. - Т. 4, № 6. - С. 360-365.

Assessment of Potential of First Trimester Ultrasonography in Detection of Fetal Congenital Structural Malformations- A Retrospective Study

Assessment of Potential of First Trimester Ultrasonography in Detection of Fetal Congenital Structural Malformations- A Retrospective Study

RESULTS OF THE MONITORING OF CONGENITAL MALFORMATIONS IN CHILDREN IN THE ROSTOV REGION

The improvement and unification of information and analytical technology is one of the priorities, the solution of which will improve the effectiveness of the system of socio-hygienic monitoring. Epidemiological characteristics of congenital malformations (rate, structure, dynamics, and territorial distribution) are particularly informative biological indices of medico-demographic problems in areas with the high technogenic load. The main data sources for epidemiological studies of congenital anomalies are currently monitoring registers of congenital malformations. The article presents data on congenital malformations in the Rostov region of the Russian Federation on the results of monitoring for 2006-2016. With the use of the common regional database of personified accounting and statistical reporting forms there were executed both the analysis of the rate, structure, dynamics, medium-term forecasting of congenital malformations and the assessment of the real risk. The average annual index of the rate of congenital malformations of the compulsory registration (form 21) for newborns and children of the first year of life for the period of 2009-2016 is 6.84 per 1,000 births. The largest contribution into the structure of congenital malformations is shown to be made by malformations of musculoskeletal system (20.82 %), genital system (19.62 %) and circulatory system (19.39 %). The positive trend of dynamics of congenital malformations for the last two years of the studied period is revealed. At extrapolation in the medium term it is possible to expect an annual gain of congenital malformations. Birth defects in children are confirmed to be one of the valuable indices of the environmental impact on the health of the population of the Rostov region. Thus, it was determined by peculiarities of formation of congenital malformations in the Rostov region, which are the basis for the development of regional oriented prevention programs.

Study of incidence and outcome of structural malformed foetus in delivered patients

Introduction: Congenital fetal anomalies are one of the most threatening complications which are prevalent in the society associated with severe morbidity and mortality in the newborn foetus. Congenital anomalies account for 8% to 15% of perinatal deaths and 13% to 16% of neonatal deaths in India. The etiology of congenital abnormality may be genetic or environmental. Aim and Objective: The present study was carried out with the aim to determine the overall incidence and outcome of congenital structural malformations in delivered patients, to identify the most common structural anomaly and study the socio-demographic correlates with structural anomalies and compared them to previous studies. Materials and Methods: The study was conducted on all obstetrics patients with concent who have delivered with fetal congenital malformations in Medical College Pune, Maharashtra over a period of 2 year satisfying inclusion and exclusion criteria. The questionnaire was prepared included the information regarding mothers age, gender birthweight, religion and socioeconomic, past and personal history was included. Data management and analysis was done using Epi-info software. The frequency distribution and graph was prepared. The categorical variables was assessed using Pearson chi-square. Results: It was observed that the overall incidence of structural malformed foetus delivered came out to be 1.2%. Low Birth weight, Low socio economic status and female gender of child are commonly involved in congenital structural malformations. There was no significant association observed between system involved with gender of child, gestational age or history of abortion. The most common anomaly found is related to GIT followed by the Genitourinary. Conclusion: We conclude that gastrointestinal, genitor-urinary, cardiovascular and nervous systems are commonly involved in congenital structural malformations. Among the gastro-intestinal system congenital hypertrophic pyloric stenosis and An

Overview of Anorectal Malformations in Africa.

Anorectal malformation is one of the most common structural congenital malformations treated by pediatric surgeons globally. The outcome of care is largely dependent on the spectrum, clinical features, associated malformations, expertise of the surgeons, and available perioperative facilities. Africa has a large burden of unmet surgical needs in children, and as in other low resource settings, local pediatric surgeons are faced with different and challenging clinical scenarios, hence, adopt various measures to enable children with surgically correctable congenital malformations to survive. There are increasing collaborations between local surgeons and experts in other continents, which often involves surgeons traveling to Africa on missions or well-structured partnerships. It is highly beneficial for the physician who is interested in global-surgery to understand the terrain in low resource settings and prepare for possible changes in management plan. This review highlights the epidemiology, clinical presentation, treatment, and outcome of care of children with anorectal malformations in Africa and provides options adopted by pediatric surgeons working with limited resources.

Ultrasound screening of congenital urinary defects and its prospects in Slovakia

The main purpose of the neonatal sonographic screening of the urinary system is to find defects that need to be resolved in the neonatal period or early infancy. Objective: to establish the incidence and structure of congenital malformations in Slovakia and retrospectively determine the proportion of prenatal diagnostics in the revealing congenital malformations of the urinary system in the Slovak Republic during the last decade. Materials and methods. In total 38,496 newborns were enrolled in the research, representing 66.5% of the total population of 57,969 newly-born children in 2017. In cooperation with the National Center for Health Information, we have found other statistical data. Results. Grade 1 of the pelvicalyceal system dilatation according to Hofmann's classification occured in 7%, grade 2 in 0.53%, grade 3 in 0.21%, and grade 4 in 0.1% of cases. One-sided agenesis occured in about 0.1% of patients. Renal cysts of various etiologies revealed in about 0.05% of children. During the selected years, the proportion of the prenatal diagnosis of congenital developmental defects of the urinary system increased from 13.3% in 1995 to 29.1% in recent years (an average of 24.4%). Conclusions. The incidence rate of congenital urinary malformations requiring nephrological and urological care and often intervention of urologist as early as in the neonatal period composes 31 out of 10,000 children. The prenatal diagnosis currently used in Slovakia finds only one quarter of congenital developmental defects of the urinary system. The high incidence rate, low-level coverage of prenatal diagnostic screening, history and physical examination, absence of a urinary infection in some forms and poor prognosis of the urinary pathology are clear arguments for the implementation of screening in all neonatal departments of the Slovak Republic.