Caudal Regression Syndrome

Objetivo: Traçar um perfil epidemiológico das malformações congênitas (MCs) em recém-nascidos (RNs) no Estado do Rio Grande do Norte no período de 2004 a 2011. Metodologia: Estudo descritivo-quantitativo com base em dados secundários do Sistema de Informações sobre Nascidos Vivos (SINASC), no qual foram avaliados dados referentes a ocorrência de malformações congênitas em RNs do Rio Grande do Norte no período de 2004 a 2011. Foi realizada uma análise descritiva de todos os dados relativos às variáveis sociodemográficas, maternas e assistenciais e em seguida foi construído o mapa temáticos. Resultados e conclusões: As MCs foram observadas em 2.305 (0,58%) RNs, e predominaram entre as mães que eram solteiras (61,41%), com idade entre 20-24 anos (27,24%), com grau de escolaridade de 8-11 anos de estudo (40,24%), que tinham realizado mais do que 7 consultas de pré-natal (42,75%) e que tiveram seus filhos com 37-41 semanas (74,1%). O sistema osteomuscular foi o mais acometido (24,97%), seguido pelas deformidades congênitas dos pés (20%) e outras malformações do sistema nervoso (13,16%). O estudo permite conhecer as características epidemiológicas de malformação congênita em recém-nascidos, sendo útil o planejamento de ações para com esse grupo. Diante disso, faz-se necessário a adoção de medidas de prevenção, assistência e políticas públicas voltadas para este aspecto da saúde materno-infantil. Além de melhoria na qualidade dos serviços de diagnóstico.
 DESCRITORES: Anormalidades Congênitas. Recém-nascido. Epidemiologia.

It has been well known that there is a high incidence of congenital malformations in newborns from diabetic mothers when the mothers' diabetes control before and during pregnancy is poor. We treated 438 pregnant diabetics who bore 443 children between February 1964 and June 1992. Among these children, there were 51 cases (11.5%) with congenital malformations, 21 cases with major anomalies (4.7%) and 30 cases with minor anomalies (6.8%). The type of malformations are not related to special organs; heart malformations and cleft lips are relatively frequent compared to other types of malformations. The mechanism of the congenital malformations in newborns from diabetic mothers remains unclear. However, clinically and experimentally it has been found to be due to fuel-mediated teratogenesis. Since October 1978, HbAi has been used as an index of diabetic control and the relationship between congenital malformations and the mother's diabetes control has been observed. 1) There is no difference in the incidence of malformations in children from IDDM and NIDDM mothers. However, there are more severe malformations in the children from IDDM mothers compared to those from NIDDM mothers. 2) Mothers who bore children with major malformations had all made their first visit to our hospital after pregnancy. HbAi in the IDDM mothers who had children with malformations at the first visit was 11%. 3) In the NIDDM mothers, even if HbAi levels are near normal, children with major malformations were born and there was little relationship between congenital malformations and the mothers' diabetes control. These data suggest that there are two kinds of congenital malformations in children from diabetic mothers, fuel-mediated teratogenesis, and malformations as seen in children from non-diabetic mothers.

Background: Congenital malformation in new-borns is a major public health problem. Identification of the pattern of congenital malformations and hence control of birth defects is an urgent need.Methods: This retrospective study was carried out in neonatal care unit (NICU) of GMC and RH Patiala, Punjab. All the deliveries conducted from January 2020 to December 2020 were included in the study. All the new born babies were thoroughly examined for the presence of congenital malformations. Detailed maternal history was recorded so as to evaluate association of various maternal risk factors with the congenital malformations. Collected data was analyzed on statistical package for the social sciences (SPSS) software, a p value of less than 0.05 was considered significant.Results: A total of 3962 babies were delivered at GMC and Rajindra Hospital, Patiala during the study period. Out of this, 91 (2.29%) new-borns were identified with congenital malformations. The most common system involved was musculoskeletal 40 (43.9%) followed by central nervous system 24 (26.4%). Among maternal and fetal risk factors; parental consanguinity, maternal under nutrition/obesity, positive history of a congenital anomaly (CA) in the family, and still birth/intrauterine deaths and ambiguous sex of the newborn baby were significantly associated with higher frequency of CAs (p<0.05).Conclusions: Congenital malformations in new-borns becoming the emerging cause of neonatal morbidity and mortality after neonatal infections. Institution of preventive measures with more focus on young mother’s nutrition, provision of health education and early diagnosis of congenital malformations during antenatal period can help to curb the burden of this problem.

Congenital gastrointestinal (GI) malformations make up 21–25 % of all congenital anomalies and require surgical correction in the neonatal period. The aim was to analyze the methods of operative treatment of hard composite congenital gastrointestinal malformations in infants. Materials and Methods: There were 13 newborns with gastroschisis, omphalocele and esophageal atresia combined with intestinal atresia, anal atresia and also with congenital heart defects in our study. Results. We have designed new preoperative care strategies for the newborns. All combined GI defects were corrected in one step. In gastroschisis and omphalocele in combination with small intestine atresia we made a plastic of anterior abdominal wall, bowel segment resection and anastomosis end-to-end. In esophageal atresia and atresia of the anus direct esophago-esophagoanastomosis was applied with suturing of tracheoesophageal fistula, also in two patients proctoplasty by Pena 2 was carried out, and in one patient with high anal atresia colostomy was applied, which was closed in the age of 6 months. In case of esophageal atresia combined with small intestine atresia direct esophago-esophagoanastomosis with tracheoesophageal fistula suturing was carried out, and resection of the bowel segment with anastomosis end-to-end was applied. In a patient with a combination of esophageal atresia and duodenal obstruction esophagoplasty and closure of tracheoesophageal fistula with anastomosis by Kimur was made. Preference was given to the combined anesthesia with neuraxial blockade. Postoperative care included prolonged artificial lung ventilation, anesthesia, parenteral nutrition, antibacterial and antifungal medicines. Conclusions. One-step correction of the congenital GI malformations in newborns is effective and it gives opportunity to achieve the best results with a single surgical intervention. Extremely important links of the combined GI defects therapy is timely and balanced preoperative preparation, anesthetic management with the advantage of neuraxial blockade usage, as well as careful postoperative management of the patient.

Objective:To describe cases of sirenomelia and severe caudal regression syndrome (CRS), to report the prevalence of sirenomelia, and compare our findings with the literature.Methods:Retrospective data was retrieved from the medical records of infants with the diagnosis of sirenomelia and CRS and their mothers from 1989 to 2010 (22 years) at the Security Forces Hospital, Riyadh, Saudi Arabia. A perinatologist, neonatologist, pediatric neurologist, and radiologist ascertained the diagnoses. The cases were identified as part of a study of neural tube defects during that period. A literature search was conducted using MEDLINE.Results:During the 22-year study period, the total number of deliveries was 124,933 out of whom, 4 patients with sirenomelia, and 2 patients with severe forms of CRS were identified. All the patients with sirenomelia had single umbilical artery, and none were the infant of a diabetic mother. One patient was a twin, and another was one of triplets. The 2 patients with CRS were sisters, their mother suffered from type II diabetes mellitus and morbid obesity on insulin, and neither of them had a single umbilical artery. Other associated anomalies with sirenomelia included an absent radius, thumb, and index finger in one patient, Potter’s syndrome, abnormal ribs, microphthalmia, congenital heart disease, hypoplastic lungs, and diaphragmatic hernia.Conclusion:The prevalence of sirenomelia (3.2 per 100,000) is high compared with the international prevalence of one per 100,000. Both cases of CRS were infants of type II diabetic mother with poor control, supporting the strong correlation of CRS and maternal diabetes.

Objective. To conduct an analytical assessment of the pattern of congenital malformations in newborns born in 2017 and 2021 in a hospital-based healthcare organization, taking into account the anamnesis of mothers as a possible cause of the formation of a malformation in the fetus.Materials and methods. A retrospective analysis of 90 developmental histories of newborns delivered between January and December 2017 (first group) and 100 histories of newborns born between January and December 2021 (second group) in the maternity hospital of the Gomel Regional Clinical Hospital was conducted.Results. The leading place among congenital malformations (CM) in the studied two groups is occupied by congenital heart defects (CHD) and defects of the urinary system. In the group of newborns with CM delivered in 2017, boys (60%) prevailed, in 2021 — girls (58%). Mothers of the children from the first comparison group were more likely to live in cities (77.7%). When analyzing the extragenital pathology of mothers, data were obtained that the mothers of the children of the first study group most often suffered from cardiovascular, endocrine diseases, diseases of the urinary system. In mothers of the children of the second comparison group, concomitant chronic diseases came out on top. The structure of maternal diseases during pregnancy is diverse, but the only statistically significant indicator was COVID-19 infection, which affected the mothers during pregnancy in 2021. The data on the diagnosis of CM in the fetus by ultrasound examination of a pregnant woman are statistically insignificant, it is impossible to draw a conclusion about the improvement or deterioration of the quality of early diagnosis of CM. The percentage of diagnosis of CM prenatally in 2017 and 2021 was 33.3 and 40%, respectively.Among CHD in percentage, the leading place in both groups is occupied by a defect of the interventricular septum ― 67.7 and 51%. In the structure of defects of the urinary system, a statistically significant defect is kidney dystopia in 2021 (28%). When analyzing malformations of the musculoskeletal system, all indicators were statistically insignificant. Conclusion. As a result of the analysis, it was found that the stable leadership among the CM belongs to the CHD and the CM of the urinary system. The frequency of diagnosis of CM in the fetus by ultrasound examination of pregnant women remains at a fairly low level. Chronic diseases of mother, diseases of the cardiovascular system, endocrine and urinary system, COVID-19 suffered by mother during pregnancy may be a possible cause of the formation of CM in the fetus.

Background: It is considered that the congenital disorders are not a public health problem among the developing countries, however, over the recent years, they are actually experiencing a transition in the epidemiology like significant reduction in infant mortality rates, decline in infections and malnutrition and also a relative rise in morbidity as well as mortality due to the congenital malformations. Present study describes the incidence and distribution of congenital malformations in newborns during the study period at Government Medical College and Hospital, Aurangabad, Maharashtra, India. Methods: This study was a hospital based cross sectional study. Seven thousand and twelve (7012) babies born over a period extending from 1 st March 1994 to 31 st April 1995 at Government Medical College and Hospital, Aurangabad, Maharashtra were studied for congenital malformations diagnosed clinically within 3 days of life. Both major and minor malformations were recorded. Minor variations such as capillary haemangioma, mongolian spots, superficial sacral dimples, small umbilical hernias, saddle nose, mild bowing of tibia and hydrocele of the testis were not considered as malformation. Results: Out of 7012 subjects, 66 newborns (0.94%) were found to be affected with congenital malformations. There was no statistically significant difference between the incidence of congenital malformations in males and females with a male: female ratio of 0.97:1. Central nervous system malformations were the most common and found in 51.66% cases. There was statistically significant higher rate of congenital malformations among stillborn babies (8.54%) as compared to live born babies (0.62%) with a p value less than 0.05. Out of 66 newborns with congenital malformations, 19 newborns had other birth defects apart from the congenital malformation. Conclusions: Congenital malformations were noted in 0.94% of the newborns at the tertiary care hospital and central nervous system malformations were the most common.

De novo congenital malformation frequencies in children from the Bryansk region following the Chernobyl disaster (2000–2017)

Rationale.The congenital malformations are the important indicator of the environmental condition, and the anthropogenic pollution of the atmosphere effects strongly the incidence of malformations in the newborns.Purpose of the Study.It is the study of the cause-and-effect relationship between the incidence of malformations in newborns and anthropogenic atmospheric pollutants using the correlation and variance methods, and the development of the mathematical models to predict the formation of the congenital malformations depending on the specific pollutants.Material and methods.The correlation and variance methods were used to study the relationships of the main anthropogenic atmospheric pollutants with the incidence of the congenital malformations in all newborns in Belgorod city in 2000–2015. The predictive models were developed based on the regression method.Results.The most effect of the excess of the maximum allowable average daily concentrations of ammonia and carbon monoxide in the atmosphere on the prevalence of the congenital malformations of various systems and organs was determined with 11 reliable correlations with the congenital malformations studied and those in general. According to the results of the analysis of variance, the maximum level of the combined effect of the anthropogenic air pollutants was revealed for the congenital malformations of the musculoskeletal system (95.69%), face and neck (94.66%), central nervous system (92.31%), digestive system (93.76%).Conclusion.The regression models created at the level required assure the prediction of the various forms of the congenital malformations depending on the anthropogenic pollutants.

Metformin is the most used oral antidiabetic medication. Despite its established safety profile, it has known antiandrogenic and epigenetic modifying effects. This raised concerns about possible adverse developmental effects caused by genomic alterations related to paternal use of metformin during the spermatogenesis period preceding conception. To assess the potential adverse intergenerational effect of metformin by examining the association between paternal metformin use during spermatogenesis and major congenital malformations (MCMs) in newborns. Nationally representative cohort study. A large Israeli health fund. 383 851 live births linked to fathers and mothers that occurred in 1999 to 2020. MCMs and parental cardiometabolic conditions were ascertained using clinical diagnoses, medication dispensing information, and laboratory test results. The effect of metformin use on MCMs was estimated using general estimating equations, accounting for concurrent use of other antidiabetic medications and parental cardiometabolic morbidity. Compared with unexposed fathers, the prevalence of cardiometabolic morbidity was substantially higher among fathers who used metformin during spermatogenesis, and their spouses. Whereas the crude odds ratio (OR) for paternal metformin exposure in all formulations and MCMs was 1.28 (95% CI, 1.01 to 1.64), the adjusted OR was 1.00 (CI, 0.76 to 1.31). Within specific treatment regimens, the adjusted OR was 0.86 (CI, 0.60 to 1.23) for metformin in monotherapy and 1.36 (CI, 1.00 to 1.85) for metformin in polytherapy, a treatment that was more common in patients with more poorly controlled diabetes. Laboratory test results for hemoglobin A1c to assess underlying diabetes severity were available only for a subset of the cohort. Paternal use of metformin in monotherapy does not increase the risk for MCMs. Association for metformin in polytherapy could potentially be explained by worse underlying parental cardiometabolic risk profile. None.

INTRODUCTION: Exposure to pesticides is a known risk to human health. The association between parental exposure and congenital malformations is described. OBJECTIVE: We sought to study the association between exposure to pesticides and congenital malformations in newborns who were born at the Regional Hospital of Encarnación in Itapúa, Paraguay. METHODS: This was a prospective case and control study from March 2006 to February 2007. A case was defined as a newborn who was born with congenital malformations, and a control case was defined as a newborn of the same gender who was born immediately after and was found to be healthy. The exposure to pesticides was considered along with other risk factors that are known to cause congenital malformations. RESULTS: The cases (52) and controls (87) were analyzed. The average number of births per month was 216. The risk factors that were significantly associated were living near fumigated fields (odds ratio [OR]: 2.46 [95% confidence interval (CI): 1.09–5.57]; P < .02), having pesticides in the house (OR: 15, 35 [95% CI: 1.96–701.63]; P < .003), direct or accidental contact with pesticides (OR: 3.19 [95% CI: 0.97–11.4]; P < .04), and history of family malformations (OR: 6.81 [95% CI: 1.94–30.56]; P < .001). The other risk factors known to cause malformations did not have statistical significance. CONCLUSIONS: The results show an association between the exposure to pesticides and congenital malformation in newborns who were born at the Regional Hospital of Encarnación. Future studies are required to confirm these findings.

ObjectivesThe recent research conducted at Teaching Hospital Anuradhapura, Sri Lanka, sought to understand the patterns and unique characteristics of congenital malformations in newborns. The emphasis was on identifying the range...

Introduction: Due to the importance of infant death caused by congenital malformations worldwide, more studies are necessary to determine the prevalence of these disorders serving as the basis for more effective control measures. Objective: To determine the prevalence and evaluate maternal risk factors for congenital malformations in newborns. Methods: A cross-sectional and retrospective study was performed in the reference maternity hospital for high-risk pregnancies in the state of Sergipe, northeastern Brazil. Data were collected from the medical records and declarations of live births of 16,518 births between January 2014 and December 2016, being included children with identified congenital malformations. Data were analyzed using the odds ratio, chi-square, and Fisher's exact test with p<0.05. Results: The study population was composed of 369 newborns with congenital malformations, which corresponds to 2.23% of total births. 53.9% were male, 47.9% had low birth weight and, 52.5% had adequate Apgar score. Anomalies affecting the musculoskeletal system were the most prevalent (30.9%), with polydactyly being the most frequent (53.5%). The number of prenatal consultations, education, and gestational age were the main observed maternal risk factors of congenital malformations. Anomalies of the circulatory system (OR=3.2 CI95% 1.3-7.84), multiple malformations (OR=9.24 CI95% 3.07-27.83), and chromosomal syndromes (OR=2.72 CI95% 1.48-5.01) were the most commonly associated with newborn deaths. Conclusion: The study presents the prevalence and risk factors related to malformations in the state of Sergipe, and improvements on maternal care and socioeconomic variables are important to decrease the number of malformations cases in Brazil.

Aim: To examine the effects of anti-epileptic drugs (AED) used during pregnancy on the frequency and the type of congenital malformations in newborns. Methods: The study included 96 newborns, born by mothers affected by epilepsy (before the pregnancy). The control group consisted of 96 healthy newborns delivered by mothers. Results: Almost all of the pregnant women used AED (98%) during the pregnancy. Monotherapy (Phenobarbiton) was used in 80% of women and 18% was used polytherapy, respectively. The pregnancy ended vaginal delivery in 54.4% of women, and in 45.5% of women, it is ended by cesarean section. Congenital malformations (palatoshisis and ventricular septal defect–VSD) were observed after births in 3 of newborn by means of detailed clinical and ehosonographic survey. Both pregnant women were on polytherapy (Phenobarbiton and Karbamazepin). Congenital malformations were not observed in the control group of newborns delivered by healthy mothers. Conclusion: The use of AED in the form of monotherapy and avoiding of AED that have the teratogenic effect are recommended during the pregnancy. Mothers with epilepsy are free to continue with the breast feeding their newborns.

<b>Introduction.</b> Congenital malformations have been known about for ages, but the reasons for their development have always been shrouded in mystery. All efforts to explain such reasons as to relating to the natural forces of God’s revenge have not stood the test of time. Still, the knowledge concerning the aetiology of malformations is not complete; we know, however, about many factors which may contribute to their development during various stages of embryogenesis. <b>Aim.</b> The aim of this paper is the analysis of specific factors which may have contributed to the development of congenital malformations in children born in the Province of Warmia and Mazury between the years 1999 and 2000. <b>Materials and methods.</b> The author of this paper, who is involved in the creation of the Polish Register of Congenital Malformations (PRCM), evaluated case records of newborns who had been reported to have been born with congenital malformations. The data recorded in this Register, maintained by the Chair and Department of Medical Genetics at the Medical Academy (at present Medical University) in Poznań, was verified by specialists, and later analysed according to the methodological principles of this work. The analysis included: fetal age and birth weight, mother’s age and education, as well as mother’s place of residence. Statistical analysis was carried out by means of Statistica v.6.1 software. <b>Results and discussion.</b> Congenital malformations were found in 276 boys, with a malformations incidence factor of 166.8/10000 for boys, and in 212 girls, the malformations incidence factor being 136.2/10000 for girls. The higher incidence of congenital malformations in boys was caused by a nearly 10 times higher incidence of urinary system defects. The incidence of congenital malformations in newborns whose mothers resided in cities amounted to 132.9/10000 of newborns born in cities. The incidence of congenital malformations in newborns of mothers residing in the country was 141.9/10 000 of newborns born in the country. It was also noted that the incidence of congenital malformations was 2–3 times higher in children with low birth weight in comparison to the general population. The highest incidence of congenital malformations was found in those children whose mothers were 35 years of age or older at the time of giving birth. Advanced maternal age was the most significant factor in the development of malformations caused by chromosome aberrations. Creating a district map presenting the incidence of malformations may be the first step to further research concerning those specific geographical regions at high risk of congenital malformations. The highest incidence, irrespective of the type of malformation, was observed in the districts of: Mrągowo, Ostróda and Braniewo, whereas the lowest was found in the districts of: Ełk, Olecko and Gołdap, and Giżycko. <b>Conclusions.</b> Having analysed all pertinent data, it was then concluded that: 1. Male sex correlates with the incidence of congenital malformations of the genitals. 2. Low birth weight correlates with an increased incidence of congenital malformations. 3. The incidence of congenital malformations in particular districts is diversified, pointing to the significance of necessary further research in order to identify those specific geographical locations having the highest malformations incidence factors.