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OBJECTIVE: Aim: To determine the state of dental health and the state of systemic immunity in patients in congenital cleft lip and palate patients. PATIENTS AND METHODS: Materials and Methods: The dental status and immunologic tests of 74 patients age 8-18 years old with congenital cleft lip and palate was analyzed: 43 children with unilateral and 31 children with bilateral complete combined cleft lip, alveolar process, hard and soft palate. RESULTS: Results: Indicators of the prevalence and intensity of the caries process in patients with congenital congenital complete cleft lip, alveolar process, hard and soft palate were high, especially in children with bilateral cleft lip and palate - the decompensated course of caries was determined in 41.93% patients, with unilateral - 23.25%. Сhronic catarrhal gingivitis was the most common in both groups of patients - the average severity of gingivitis prevailed - 51.16% with congenital unilateral cleft lip and palate and 51.61% - with bilateral. Atopic cheilitis, glossitis and chronic recurrent aphthous stomatitis were common. This patients have significant changes in the cellular chain of the immune system with a deficiency of the main phenotypes of lymphocytes - CD4+ CD8+ and inflammatory bacterial changes in blood serum. CONCLUSION: Conclusions: Patients of unilateral and bilateral complete combined cleft lip, alveolar process, hard and soft palate have significant changes in the dental status and in the cellular chain of the immune system. The level of manifestation of these changes is directly proportional to the extent of localization of the pathology - unilateral or bilateral.

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AIM: The aim of this case report is describe an unprecedented case with histological and immunohistochemical diagnosis of splenic heterotopy in the colon using material obtained by endoscopic ultrasound-guided biopsy. BACKGROUND: Splenic heterotopia is a benign condition characterized by the implantation of splenic tissue in areas distant from its usual anatomical site, such as the peritoneum, omentum, mesentery, liver, pancreas, and subcutaneous tissue and, more rarely, in locations such as the colon and brain. It is generally associated with a history of splenic trauma or splenectomy and typically does not cause specific symptoms. CASE PRESENTATION: A 35-year-old white male patient who was healthy, with no history of trauma or splenectomy, but had a family history of colorectal neoplasia underwent colonoscopy for screening. The examination revealed a large bulge in the proximal descending colon, covered by normal-appearing mucosa. Endoscopic ultrasound-guided puncture was performed with a 22 gauge fine needle biopsy, and the histopathological and immunohistochemical analysis results were consistent with a heterotopic spleen. CONCLUSIONS: This is the first report of a primary intramural colic splenosis case with histological and immunohistochemical diagnosis of splenic heterotopia in the colon, using material obtained by endoscopic ultrasound and ultrasound-guided biopsy.

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OBJECTIVE: Aim: To study the condition of oral tissues in children with congenital complete cleft lip, alveolar process, hard and soft palate. PATIENTS AND METHODS: Materials and Methods: From the examined 470 children National Specialized Children's Hospital "OKHMATDYT" (Kyiv, Ukraine) with congenital cleft lip and palate was analyzed: 302 patients aged 8-18 years were subject to in-depth analysis for clinical and radiological - 192 with unilateral and 110 with bilateral complete cleft lip, alveolar process, hard and soft palate. RESULTS: Results: The average value of primary adention in patients with unilateral and bilateral complete combined cleft is 69.53%, but in females this indicator is higher and in unilateral cleft 92.18% for female against 53.17% for male. In females with unilateral cleft retention - 40.62% and overcomplete - 10,93%. The same high indicators in bilateral cleft: retention - 36.58% and overcomplete - 12.19%. Retention and overcomplete have higher values for men - 44.93% and 23.19%, respectively. Chewing efficiency in females with bilateral cleft as a result of primary dentition is below 80%. Affected by caries - 90.73% in both groups. Inflammatory processes in the periodontal tissues are revealed (80,75%): chronic catarrhal gingivitis, chronic hypertrophic gingivitis, chronic generalized periodontitis. Manifestations of atopic and angular cheilitis in 39.09% and 23.63% with bilateral cleft lip and palate, glossitis in 29.09%. CONCLUSION: Conclusions: Patients with congenital complete cleft lip, alveolar process, hard and soft palate have high rates of adentia, retention, overcomplete dentition and a wide range of diseases of the oral cavity, which negatively affects surgical and orthodontic rehabilitation.

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Background: Prior literature has described an association between preeclampsia and offspring congenital heart disease (CHD), while suggesting there may be a stronger relationship in individuals with early preeclampsia. Objectives: The authors sought to explore the relationship between offspring CHD and preeclampsia among pregnancies in a population-based study. Methods: Retrospective cohort study all singleton pregnancies delivered in the state of California 2000 to 2012. We included singleton births with gestational ages of 23 to 42 weeks and excluded pregnancies complicated by pre-existing diabetes or identified fetal chromosomal anomalies. We used multivariable logistic regression to estimate ORs for associations between offspring CHD and preeclampsia. Further subanalyses examined the relationships in deliveries <34 weeks and >34 weeks to analyze if there was a difference according to timing of preeclampsia development. Results: Preeclampsia was strongly associated with offspring CHD (aOR: 1.38; 99% CI: 1.29-1.49) in the same pregnancy. Among patients with preeclampsia in the index pregnancy, there was an increased risk of fetal CHD in the subsequent pregnancy (aOR: 1.39; 99% CI: 1.20-1.61). Among patients with offspring CHD in the index pregnancy, there was an increased risk of preeclampsia in the subsequent pregnancy (aOR: 1.39; 99% CI: 1.15-1.68). In all 3 analyses, results remained significant when stratified by <34 weeks and ≥34 weeks. Conclusions: Our findings suggest a need for further investigation into the etiology of preeclampsia and its relationship to embryologic development of cardiovascular structures.

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Transverse basilar cleft (TBC) is an extremely rare variation of the clivus or the basilar part of the occipital bone. In this report, a unilateral transverse basilar fissure was found at the clivus in a head computed tomography of an 18-year-old female patient diagnosed with hemifacial microsomia (HFM). Image analysis of this patient showed shortening of the ramus of the right mandible along with medial displacement of the right temporomandibular joint and hypoplastic right maxilla. In addition, observation of the clivus showed a cleft between the basioticum and basioccipital bones at the level of the pharyngeal tubercle on the right side. This cleft was identified as TBC. Clival variations, TBC included, attributed to HFM have never been reported. This report draws attention to the complex relationship between abnormal development of clivus and HFM syndrome, and sheds light on a possible genetic and molecular association between these two conditions.

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Congenital limb defects occur when a limb does not develop normally during pregnancy. The quality of each person's everyday life is significantly impacted by any of these defects and there is no concrete treatment. 3D modeling and printing, enables the creation and customization of precise virtual and/or physical models, including models of the human anatomy. These technologies provide a novel method of producing new devices with optimized design and production time, improving adaptability, and incorporating functionality. To this end, we propose a method of designing and producing 3D printed assistive devices and we also present an example of an assistive device, done in the 3D Printing Center for Health, as well as its impact on the patient's daily life. With this device, the patient became able to play the guitar and hold a knife, thus helping on these two activities.

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A mobile phone app was used by 59 veterinary practitioners to collect case histories and images of 191 cattle with congenital defects distributed nationally over a 3-year period. The majority of cases were recorded during the spring calving season (57.6%) in pluriparous dairy dams. The majority of calves were recorded at birth or within the first week (66.5%) in singletons born at full-term. On the majority of farms (75.9%), this was the only congenitally deformed bovine recorded up to that point in the year and on the majority of farms, there were no congenitally deformed cattle recorded in the previous 5 years. The majority of congenital defects (83.5%) were recorded in the musculoskeletal or digestive systems. The three most commonly recorded individual defects were intestinal atresia (24.1%), schistosomus reflexus (20.4%) and ankylosis (6.8%); multiple defects were recorded in 13.1% of cases. These findings highlight the relatively high prevalence of intestinal atresia and schistosomus reflexus in calves attended by veterinary practitioners, which warrants implementation of preventive measures. The project highlights the potential benefits of veterinary-practitioner apps to detect changing trends in endemic, or the emergence of novel, congenital or other conditions.

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Introducción: La prevención de enfermedades y daños en los individuos, la familia y la comunidad es una de las funciones del médico y la enfermera de la familia. Un factor a tener en cuenta en la prevalencia de los defectos congénitos resulta su inadecuada prevención. En el nivel primario o preconcepcional, esto se lograría con un desempeño profesional adecuado. Objetivo: Sistematizar los referentes teóricos-metodológicos que sustentan el desempeño profesional del médico de familia en la prevención preconcepcional de defectos congénitos. Métodos: Se realizó una revisión bibliográfica sobre el desempeño profesional del médico de familia y la prevención preconcepcional de defectos congénitos, en la Biblioteca Virtual de Salud de Infomed, en las bases de datos Scopus, SciELO, Redalyc, Latindex y Dialnet, en español e inglés, así como en cinco libros. Para la búsqueda se utilizaron los descriptores: desempeño profesional, médico de familia, defectos congénitos y prevención. Luego de aplicar criterios de inclusión/exclusión se seleccionaron 26 bibliografías por su actualidad y calidad científica. Resultados: Diferentes investigadores abordan el proceso de desempeño profesional desde diferentes áreas de las ciencias pedagógicas y la educación médica. Los autores adoptan posiciones teóricas relacionadas con el desempeño profesional del médico de familia en prevención preconcepcional de defectos congénitos, y la necesidad de la preparación permanente y continuada para el mejoramiento del desempeño profesional de estos profesionales. Conclusiones: La sistematización realizada sobre desempeño profesional del médico de familia en prevención preconcepcional de defectos congénitos permitió establecer un acercamiento a los referentes teóricos que sustentan el tema.

Introduction: The prevention of disease and harm in individuals, the family and the community is one of the roles of the family doctor and nurse. A factor to be taken into account in the prevalence of congenital defects is their inadequate prevention. At the primary or preconceptional level, this would be achieved with adequate professional performance. Objective: To systematize the theoretical-methodological referents that support the professional performance of the family doctor in the preconceptional prevention of congenital defects. Methods: A bibliographic review on the professional performance of the family doctor and the preconceptional prevention of congenital defects was carried out in the Virtual Health Library of Infomed, in the Scopus, SciELO, Redalyc, Latindex and Dialnet databases, in Spanish and English, as well as in five books. The following descriptors were used for the search: desempeño profesional [professional performance], médico de la familia [family doctor], defectos congénitos [congenital defects] and prevención [prevention]. After applying inclusion/exclusion criteria, 26 bibliographies were selected for their scientific quality and topicality. Results: Different researchers approach the professional performance process from different areas of pedagogical sciences and medical education. The authors take on theoretical positions related to the professional performance of the family doctor in preconceptional prevention of congenital defects, as well as the need for permanent and continuous preparation to improve their professional performance. Conclusions: The systematization carried out on professional performance of the family doctor in preconceptional prevention of congenital defects allowed establishing an approach to the theoretical referents that support the subject.

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El artículo expone los fundamentos teóricos que sustentan la estrategia de superación para enfermeros residentes de la especialidad de Ginecobstetricia. Se orienta a la prevención del riesgo genético con énfasis en los defectos congénitos, temática necesaria para este especialista, pero poco abordada en los planes de estudio. El actual resultado constituye una salida del proyecto de investigación: "estrategia de superación para los profesionales de Enfermería sobre la prevención del riesgo genético". Se realizó en la Facultad de Tecnología de la Salud de la Universidad de Ciencias Médicas de Camagüey, en el periodo de enero 2020 a diciembre 2022. Para la construcción de los fundamentos referidos se emplearon métodos de investigación empíricos y teóricos. El objetivo consistió en exponer elementos de una estrategia de superación para enfermeros residentes en Ginecobstetricia dirigida a la prevención del riesgo genético. Los resultados demostraron las insuficiencias que existentes.

The article exposes the theoretical foundations that support the improvement strategy of the residents of the Gynecology and Obstetrics specialty aimed at the prevention of genetic risk with emphasis on congenital defects, a necessary theme for this specialist, but insufficiently addressed in the plans of study. The current result constitutes a departure from the research project Overcoming Strategy for Nursing professionals on the prevention of genetic risk, at the Technological Faculty of the University of Medical Sciences of Camagüey from January 2020 to December 2023. For the construction of the foundations referred to, empirical and theoretical research methods were used. For this reason, the objective of this work consisted in exposing elements of an overcoming strategy aimed at residents of the Gynecology and Obstetrics specialty for the at the prevention of genetic risk. The results demonstrated the insufficiencies that existed in this regard.

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Key Clinical Message: Schistosomus reflexus (SR), an unusual congenital defect in calves, can be diagnosed grossly by exposed viscera and curved spine with hindquarters twisted up toward the head. SR is typically associated with dystocia and fetal deaths in cows. Hence, cattle breeding programs must be aware of these anomalies to avoid losses from abnormal, non-viable calves. Abstract: Schistosomus reflexus (SR) is a rare and fatal congenital malformation in bovines from autosomal recessive disorders. We report a typical case of SR in a non-viable calf after the cesarean section of a crossbred Friesian cow. It was characterized by the inversion of the spinal column and a pronounced ventral curvature causing the cranium to be positioned near the sacrum and tail, along with exposed thoracic and abdominal viscera, limb ankylosis, and tongue protrusion. The postoperative management of the cow, along with the outcome, is also described here.

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BACKGROUND: Parapagus diprosopus are conjoined twins characterized by craniofacial duplication and only one body, representing one of the rarest types of these twins. Their occurrence has been recorded in different species of vertebrates, including humans, but few cases have been studied in domestic pigs. CASE: A pair of conjoined twin pigs was studied using x-rays, computed tomography, and necropsy. The abnormalities found were compared with those of the rare swine cases presented in the literature as well as with other species, and the different etiopathogenetic possibilities were addressed. The degree of duplication of the head bones decreased caudally, as did that of the structures of the central nervous system. In the two oral cavities, there was a complete cleft palate. All the cervical vertebrae and thoracic vertebrae up to T3 were partially duplicated. The heart and great vessels were normal, as were the other thoracic and abdominal organs. CONCLUSIONS: The conjoined twin pigs of this study are a case of parapagus diprosopus tetraophthalmus triotus, presenting the same pattern of abnormalities of human diprosopus and that of other species. The scarcity of detailed studies on craniofacial duplication in pigs and the lack of a definitive explanation on the etiology and pathogenesis of conjoined twins shows the need for further research and the publication of more cases.

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BACKGROUND: The complex presentation, associated co-morbidities and multi-disciplinary requirements dictate the requirement for in-depth knowledge in order to effectively manage patients with cleft lip and palate (CLP). We aimed to develop a validated questionnaire for cleft lip and palate knowledge assessment and to evaluate the knowledge of cleft lip and palate among a group of recently-graduated dentists. MATERIALS AND METHODS: A multiple-site, cross-sectional questionnaire-based study was conducted. The study population included recently graduated dentists involved in a dental internship program. A bespoke questionnaire was developed and validated, with internal consistency assessed using Cronbach's alpha and factor analysis performed. A 47-item prototype was distilled into a 15-item questionnaire. This was distributed to the participants with a response rate of 67% obtained. RESULTS: The overall proportion of correct responses among dental interns was moderate (73%). The best results were found in relation to CLP treatment including the effect of unfavorable surgical outcomes on speech (89.5%) and the impact of CLP on the occlusion (87.6%). The lowest rate of correct responses (26.7%) was identified in relation to the association between CLP and smoking. CONCLUSION: A validated CLP questionnaire was developed, permitting evaluation of the knowledge of cleft lip and palate and its management among recently graduated dentists. There is limited appreciation among dental interns of the risk factors for CLP as well as post-surgical complications. Given that general dentists are often the gatekeepers for the management of patients with cleft lip and palate, it is important that the findings of this survey are used to inform the curriculum and teaching of cleft lip and palate.

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Introducción: Múltiples investigaciones demuestran el efecto teratogénico de la diabetes mellitus durante el embarazo, considerada causa frecuente de morbilidad fetal. Objetivo: Describir las características del producto de la concepción de mujeres con diabetes pregestacional o gestacional, atendidas en el Hospital Provincial Comandante Ciro Redondo García, de Artemisa. Métodos: Se realizó un estudio observacional, descriptivo, transversal, en la Provincia Artemisa, Cuba, en el período de febrero 2016 a febrero 2018, en 316 mujeres con diabetes mellitus durante su gestación. La información se obtuvo mediante revisión documental y entrevista, conservando los datos en hoja de cálculo Excel. Resultados: El 69,9 por ciento de las pacientes diabéticas estudiadas presentaron morbilidades en su descendencia, entre las que predominaron los defectos congénitos en 139 casos; 34 neonatos macrosómicos; 21 pretérminos; 9 con retardo del crecimiento intrauterino y 5 fallecidos antes del año de vida. La diabetes, tanto pregestacional como gestacional, se relacionó con afecciones en la descendencia; sin embargo, un control preconcepcional adecuado de la enfermedad redujo el riesgo de tener hijos afectados. Los defectos congénitos fueron la alteración más frecuente cuando la madre padecía diabetes pregestacional. Si la diabetes materna era gestacional los hijos presentaron con frecuencia macrosomía y otras anomalías asociadas. Conclusiones: Alrededor de 70 de cada 100 mujeres diabéticas presentan morbilidades en su descendencia. Si la diabetes materna no es controlada antes de la concepción, estas morbilidades en sus hijos son predominantemente defectos congénitos con posible origen disruptivo, mientras que la diabetes gestacional se relaciona más con recién nacidos macrosómicos(AU)

Introduction: Multiple investigations show the teratogenic effect of diabetes mellitus during pregnancy, being considered a frequent cause of fetal morbidity. Objective: To describe the characteristics of the offspring of women with pregestacional or gestational diabetes who received attention at the Hospital Provincial Comandante Ciro Redondo García of Artemisa. Methods: An observational, descriptive, cross-sectional and descriptive study was conducted in Artemisa Province, Cuba, in the period from February 2016 to February 2018, with 316 pregnant women with diabetes mellitus. The information was obtained through documentary review and interview; the data were kept in an Excel spreadsheet. Results: 69.9 percent of the studied diabetic patients presented morbidities in their offspring, among which congenital defects predominated, accounting for 139 cases; 34 were macrosomic neonates; 21 were preterm; 9 presented intrauterine growth retardation; and 5 died within one year of life. Diabetes, both pregestational and gestational, was associated with conditions in the offspring; however, adequate preconception control of the disease reduced the risk for having affected children. Congenital defects were the most frequent alteration when the mother had pregestational diabetes. If maternal diabetes was gestational, the offspring frequently presented macrosomia and other associated anomalies. Conclusions: About 70 out of 100 diabetic women present morbidities in their offspring. If maternal diabetes is not controlled before conception, these morbidities in their offspring are predominantly congenital defects with a possible disruptive origin, while gestational diabetes is more related to macrosomic newborns(AU)

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Resumen Objetivo: Determinar la prevalencia de cardiopatías congénitas (CC) en un hospital de segundo nivel que ameritaron tratamiento quirúrgico. Material y métodos: Estudio descriptivo, realizado en pacientes con diagnóstico de CC en una unidad de segundo nivel de atención del Instituto Mexicano del Seguro Social (IMSS) en Puebla, México durante el periodo de 2016-2017, se incluyeron expedientes de recién nacidos (RN) a término hasta los 14 años, analizando variables sociodemográficas, tipo de CC y corto circuito, presencia de anomalías asociadas y envío a un tercer nivel de atención para tratamiento quirúrgico. La información fue recolectada y analizada mediante el programa SPSS Statistics v25. Resultados: La prevalencia hospitalaria de CC que requirieron envío a tercer nivel de atención para tratamiento quirúrgico fue 6.8% en 2016 y 6.6% en 2017, la mediana de edad fue 1 año. El 77.2% de las CC fueron acianógenas, la persistencia del conducto arterioso (PCA) fue el corto circuito más frecuente y 19.2% presentó síndrome de Down como anomalía congénita asociada. Conclusión: Obtuvimos una prevalencia similar a otras regiones de México, siendo las CC acianógenas la causa más frecuente de los tratamientos quirúrgicos. La detección y referencia oportuna mejorara la atención y calidad de vida en estos pacientes.

Abstract Objective: To determine the prevalence of congenital heart disease (CHD) in a second level hospital that required surgical treatment. Material and methods: Descriptive study carried out in patients diagnosed with CHD in a second level hospital of the Mexican Social Security Institute (IMSS) in Puebla, Mexico during the period 2016-2017. Records of full-term newborns (NB) up to 14 years of age analyzing sociodemographic variables, type of CHD and short-circuit, presence of associated anomalies, and referral to a third level hospital for surgical treatment were included. Data were collected and analyzed using the SPSS Statistics v25 program. Results: The hospital prevalence of CHD that required referral to the third level hospital for surgical treatment was 6.8% in 2016 and 6.6% in 2017; the median age was 1 year. The 77.2% of CHDs were non-cyanotic, patent ductus arteriosus (PDA) was the most common shunt, and 19.2% had Down syndrome as an associated congenital anomaly. Conclusion: We obtained a similar prevalence to other regions of Mexico, with acyanotic CHD being the most frequent cause of surgical treatments. Timely detection and referral will improve care and quality of life in these patients.

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Unlike single-gene mutations leading to Mendelian conditions, common human diseases are likely to be emergent phenomena arising from multilayer, multiscale, and highly interconnected interactions. Atrial and ventricular septal defects are the most common forms of cardiac congenital anomalies in humans. Atrial septal defects (ASD) show an open communication between the left and right atria postnatally, potentially resulting in serious hemodynamic consequences if untreated. A milder form of atrial septal defect, patent foramen ovale (PFO), exists in about one-quarter of the human population, strongly associated with ischaemic stroke and migraine. The anatomic liabilities and genetic and molecular basis of atrial septal defects remain unclear. Here, we advance our previous analysis of atrial septal variation through quantitative trait locus (QTL) mapping of an advanced intercross line (AIL) established between the inbred QSi5 and 129T2/SvEms mouse strains, that show extremes of septal phenotypes. Analysis resolved 37 unique septal QTL with high overlap between QTL for distinct septal traits and PFO as a binary trait. Whole genome sequencing of parental strains and filtering identified predicted functional variants, including in known human congenital heart disease genes. Transcriptome analysis of developing septa revealed downregulation of networks involving ribosome, nucleosome, mitochondrial, and extracellular matrix biosynthesis in the 129T2/SvEms strain, potentially reflecting an essential role for growth and cellular maturation in septal development. Analysis of variant architecture across different gene features, including enhancers and promoters, provided evidence for the involvement of non-coding as well as protein-coding variants. Our study provides the first high-resolution picture of genetic complexity and network liability underlying common congenital heart disease, with relevance to human ASD and PFO.

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OBJECTIVE: Concerns exist regarding the effects of maternal inhalation of household products on fetal health. This study aimed to clarify the impact of maternal exposure to household products, including spray formulations, on urological anomalies in offspring up to the age of 1 year. METHODS: This study included data from 84 237 children from the Japan Environment and Children's Study, an ongoing nationwide cohort study. Using maternal self-report questionnaires, information on the use of organic solvents, waterproof sprays, insect-repellent sprays, insecticide sprays, and herbicides from implantation until the second or third trimester of pregnancy and data on urological anomalies were collected 1 year after delivery. RESULTS: Urological anomalies occurred in 799 infants. Multivariate logistic regression analysis adjusted for maternal age, pregnancy body mass index, gestational diabetes, pre-existing maternal kidney disease, and preterm birth revealed no association between maternal exposure to organic solvents and the prevalence of offspring urological anomalies. Nevertheless, we observed significant associations between waterproof spray use during pregnancy and urological anomalies in boys (odds ratio [OR]: 1.28, 95% confidence interval [CI]: 1.03-1.59) and between the use of insecticide spray during pregnancy and urological anomalies in girls (OR: 1.48, 95% CI: 0.98-2.22). Sub-analysis revealed significant associations between waterproof spray use during pregnancy and vesicoureteral reflux in boys (OR: 2.14, 95% CI: 1.02-4.49) and between the use of insecticide spray during pregnancy and hydronephrosis in girls (OR: 2.23, 95% CI: 1.11-4.47). CONCLUSION: Spray formulation use during pregnancy might increase the risk of urological anomalies in the offspring.

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Key Clinical Message: Children with Pierre Robin syndrome (PRS) often have trouble breathing and eating as soon as they are born. If conservative therapy fails to alleviate airway obstruction, surgical surgery may be considered. Patients with PRS require multidisciplinary approaches for treatment. Abstract: Pierre Robin syndrome is a common craniofacial abnormality that causes glossoptosis and blockage of the upper airway. This renders it difficult to feed, which leads to severe malnutrition. This condition is also often marked by an absence of a soft palate. We mention a newborn with Pierre Robin syndrome with the absence of a soft palate and pneumonia complications, whose impending respiratory failure was treated successfully. To solve the complex problems that these babies and their families are facing, a multidisciplinary approach is needed.

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Congenital malformations are defined as single or multiple defects of the morphogenesis of organs or body parts, identifiable during intrauterine life or at birth. With recent advances in prenatal detection of congenital malformations, many of these disorders can be identified early on a routine fetal ultrasound. The aim of the present systematic review is to systematize the current knowledge about the mode of delivery in pregnancies complicated by fetal anomalies. The databases Medline and Ebsco were searched from 2002 to 2022. The inclusion criteria were prenatally diagnosed fetal malformation, singleton pregnancy, and known delivery mode. After the first round of research, 546 studies were found. For further analysis, studies with full text available concerning human single pregnancy with known neonatal outcomes were considered. Publications were divided into six groups: congenital heart defects, neural tube defects, gastroschisis, fetal tumors, microcephaly, and lung and thorax malformations. Eighteen articles with a descripted delivery mode and neonatal outcome were chosen for further analysis. In most pregnancies complicated by the presence of fetal anomalies, spontaneous vaginal delivery should be a primary option, as it is associated with lower maternal morbidity and mortality. Cesarean delivery is generally indicated if a fetal anomaly is associated with the risk of dystocia, bleeding, or disruption of a protective sac; examples of such anomalies include giant omphaloceles, severe hydrocephalus, and large myelomeningocele and teratomas. Fetal anatomy ultrasound should be carried out early, leaving enough time to familiarize parents with all available options, including pregnancy termination, if an anomaly is detected.

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Ebstein anomaly is a rare congenital cardiac condition associated with displacement and incompetence of the tricuspid valve. Peripartum anesthetic management can be particularly challenging since these patients are at high risk of cardiac failure and tachyarrhythmias. Risk stratification is important since it helps to identify high-risk patients who should deliver at a tertiary care center where a multidisciplinary team (obstetrics, cardiology, anesthesiology, and neonatology) is immediately available. We describe the peripartum anesthetic management of 9 patients with Ebstein anomaly who underwent 12 deliveries at our institution. All patients tolerated neuraxial anesthesia and analgesia well. No maternal or fetal deaths occurred.

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The total uptake of prenatal aneuploidy screening for Down syndrome (DS) is increasing worldwide. As a result of increasing prenatal diagnosis of DS and subsequent termination of pregnancy, livebirth prevalence of DS is decreasing. The aim of this study is to explore the impact of an increasing uptake of prenatal aneuploidy screening on the neonatal mortality and morbidity in DS. This is a retrospective cohort study of 253 neonates with DS born between 2012 and 2018 that were seen at the outpatient clinic of five hospitals in the Netherlands. The medical files were reviewed for maternal and neonatal characteristics and neonatal morbidities. The Dutch national birth registry (Perined) provided mortality numbers of neonates with DS. The results were interpreted in the context of other published studies. Neonatal mortality in DS remained stable, ranging from 1.4 to 3.6%. A congenital heart defect (CHD) was found in 138 of the 251 neonates (55.0%) with atrial septal defect, atrioventricular septal defect, and ventricular septal defect being the most common. The type of CHD in DS did not change over time. Gastro-intestinal defects were present in 22 of the 252 neonates with DS (8.7%), with duodenal atresia as the most reported anomaly. Persistent pulmonary hypertension of the neonate (PPHN) was found in 31 of the 251 infants (12.4%).  Conclusions: Although uptake of prenatal aneuploidy screening increased, neonatal mortality and morbidity in DS appears to be stable. An increased incidence of PPHN was found. What is Known: • The total uptake of prenatal aneuploidy screening for Down syndrome is increasing worldwide. • As a result of increasing prenatal diagnosis of Down syndrome and subsequent termination of pregnancy, the livebirth prevalence of Down syndrome is decreasing. What is New: • Although uptake of prenatal aneuploidy screening increased, neonatal mortality and morbidity in Down syndrome appears to be stable. • An increased incidence of persistent pulmonary hypertension of the neonate was found.

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