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BACKGROUND AND OBJECTIVE: Congenital heart defects are known to be associated with increased odds of severe COVID-19. Congenital anomalies affecting other body systems may also be associated with poor outcomes. This study is an exhaustive assessment of congenital anomalies and odds of severe COVID-19 in pediatric patients. METHODS: Data were retrieved from the COVID-19 dataset of Cerner® Real-World Data for encounters from March 2020 to February 2022. Prior to matching, the data consisted of 664,523 patients less than 18 years old and 927,805 corresponding encounters with COVID-19 from 117 health systems across the United States. One-to-one propensity score matching was performed, and a cumulative link mixed-effects model with random intercepts for health system and patients was built to assess corresponding associations. RESULTS: All congenital anomalies were associated with worse COVID-19 outcomes, with the strongest association observed for cardiovascular anomalies (odds ratio [OR], 3.84; 95% CI, 3.63-4.06) and the weakest association observed for anomalies affecting the eye/ear/face/neck (OR, 1.16; 95% CI, 1.03-1.31). CONCLUSIONS AND RELEVANCE: Congenital anomalies are associated with greater odds of experiencing severe symptoms of COVID-19. In addition to congenital heart defects, all other birth defects may increase the odds for more severe COVID-19. IMPACT: All congenital anomalies are associated with increased odds of severe COVID-19. This study is the largest and among the first to investigate birth defects across all body systems. The multicenter large data and analysis demonstrate the increased odds of severe COVID19 in pediatric patients with congenital anomalies affecting any body system. These data demonstrate that all children with birth defects are at increased odds of more severe COVID-19, not only those with heart defects. This should be taken into consideration when optimizing prevention and intervention resources within a hospital.

BACKGROUND: In recent decades, the survival of children with congenital anomalies and paediatric cancer has improved dramatically such that there has been a steady shift towards understanding their lifelong health outcomes. Paediatric surgeons will actively manage such conditions in childhood and adolescence, however, adult surgeons must later care for these grown-ups in adulthood. This article aims to highlight some of those rare disorders encountered by paediatric surgeons requiring long-term follow-up, their management in childhood and their survivorship impact, in order that the adult specialist may be better equipped with skills and knowledge to manage these patients into adulthood. METHODS: A comprehensive literature review was performed to identify relevant publications. Research studies, review articles and guidelines were sought, focusing on the paediatric management and long-term outcomes of surgical conditions of childhood. The article has been written for adult surgeon readership. RESULTS: This article describes the aforementioned conditions, their management in childhood and their lifelong implications, including: oesophageal atresia, tracheo-oesophageal fistula, malrotation, short bowel syndrome, duodenal atresia, gastroschisis, exomphalos, choledochal malformations, biliary atresia, Hirschsprung disease, anorectal malformations, congenital diaphragmatic hernia, congenital lung lesions and paediatric cancer. CONCLUSION: The increasing survivorship of children affected by surgical conditions will translate into a growing population of adults with lifelong conditions and specialist healthcare needs. The importance of transition from childhood to adulthood is becoming realized. It is hoped that this timely review will enthuse the readership to offer care for such vulnerable patients, and to collaborate with paediatric surgeons in providing successful and seamless transitional care.

PURPOSE: Intestinal obstruction caused by intestinal atresia is a surgical emergency in newborns. Outcomes for the jejunal ileal atresia (JIA), the most common subtype of atresia in low-income countries (LIC), are poor. We sought to assess the impact of utilizing the Bishop-Koop (BK) approach to JIA in improving outcomes. METHODS: A retrospective cohort study was performed on children with complex JIA (Type 2-4) treated at our national referral hospital from 1/2018 to 12/2022. BK was regularly used starting 1/1/2021, and outcomes between 1/2021 and 12/2022 were compared to those between 1/2018 and 12/2020. Statistical significance was set at p

Nonchromosomal congenital anomalies (NCAs) are the most common cause of infant mortality and morbidity. The role of maternal age is well known, although the specifics are not thoroughly elucidated in the literature. To evaluate the role of maternal age in the incidence of NCAs and to pinpoint age groups at higher risk to refine screening protocols. A systematic review and meta-analysis were conducted following the PRISMA 2020 guidelines and Cochrane Handbook. Searches were performed on October 19, 2021, across MEDLINE (via PubMed), Cochrane Library (CENTRAL), and Embase. Population-based studies assessing the impact of maternal age on the incidence of NCAs in pregnant women were included, without restrictions on age range, country, or comorbidities. A random-effects model was used for pooling effect sizes, considering the heterogeneity across studies. From 15,547 studies, 72 were synthesized. Maternal age >35 showed an increased NCA risk (risk ratio [RR]: 1.31, confidence interval [CI]: 1.07 -1.61), rising notably after>40 (RR: 1.44, CI: 1.25 -1.66). The latter changes to 1.25 (CI: 1.08 -1.46) if the co-occurrence of chromosomal aberrations is excluded. Specific anomalies like cleft lip/palate (>40, RR: 1.57, CI: 1.11 -2.20) and circulatory system defects (>40, RR: 1.94, CI: 1.28 -2.93) were significantly associated with advanced maternal age. Conversely, gastroschisis was linked to mothers <20 (RR: 3.08, CI: 2.74 -3.47). The study confirms that both very young and advanced maternal ages significantly increase the risk of NCAs. There is a pressing need for age-specific prenatal screening protocols to better detect these anomalies, especially considering the current trend of delayed childbearing. Further research is required to fully understand the impact of maternal age on the prevalence of rarer NCAs. [Display omitted] [ABSTRACT FROM AUTHOR]

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Background Objectives Materials and methods Results Conclusions Growing evidence indicates that paternal condition significantly influences pregnancy outcomes and offspring health. However, assessing the safety of paternal drug exposure via randomized controlled trials poses ethical challenges, and relevant clinical studies consume a lot of resources to evaluate only a few drugs. Currently, safety data on paternal drug exposure are scarce.To investigate the impact of paternal drug exposure on fertility, pregnancy outcomes, and offspring health.Data from the FDA adverse event reporting system (FAERS) were analyzed (2010–2022). Disproportionality analyses were used to identify signals of each drug‐adverse event pair associated with paternal drug exposure in a different hierarchical manner.Out of the 16,180,533 reports, 3210 were related to paternal exposure, encompassing 7808 concomitant adverse events. Drugs used to treat rheumatoid arthritis, cancer, and infections were primary sources of paternal exposure. Analysis identified 115 signals concerning reproductive health. Notably, the signals of diazepam‐small for dates baby and finasteride‐cryptorchidism were particularly significant (reporting odds ratio, ROR > 800, N > 10). Moreover, spontaneous abortion signals occur frequently in biologics for the treatment of immune inflammation; the use of immunosuppressive drugs was associated with the highest number of congenital anomalies, with the strongest signals for belatacept‐skeletal dysplasia, and tacrolimus‐talipes. Only mycophenolic acid, estrogen and imatinib have signals on male fertility. Anti‐tumor agents had high numbers of each reproductive toxicity, with the highest values of trisomy 13 signals associated with etoposide and cisplatin.This is the first research to fully assess the safety of paternal exposure to the majority of medications in terms of reproduction. Clinical and scientific researchers should pay close attention to the list of risk medications included in this study, particularly the following association combinations: biologics used to treat inflammatory diseases—abortion, diazepam—small for date baby, finasteride—cryptorchidism, etoposide and cisplatin‐13 trisomy. [ABSTRACT FROM AUTHOR]

Purpose: To examine the association between maternal prescriptions for fibrates and congenital malformations in live births. Methods: Nationwide retrospective cohort study was conducted using the data sourced from the Korean National Health Insurance database. A cohort of 756,877 completed pregnancies linked to live-born infants in 215,600 women with dyslipidemia between 2012 and 2021. The study compared data on congenital anomalies between pregnancies who were exposed to fibrates and those who were not exposed to fibrates in the first trimester. Odds ratios (OR) were calculated by a multivariable analyses using logistic regression models to adjust for potential confounders. Results: 260 pregnancies (0.12%) were exposed to fibrates during the first trimester. The prevalence of malformations in exposed offspirng was 10.77%, not significantly different compared with 9.68% in offspring of women who were not prescribed fibrates during pregnancy in patients with dyslipidemia (OR 1.13; 95% CI 0.75–1.70). Conclusion: This study implies that the use of fibrates during pregnancy may be safe, as it did not show any association with congenital anomalies. However, caution is warranted due to an elevated risk associated with prolonged exposure. [ABSTRACT FROM AUTHOR]

Purpose: Patients with lower urinary tract malformations (LUTM) were suspended from kidney transplantation (KT) programs in the past due to various concerns. Consequently, only a limited number of studies have explored this topic at hand. In this study, our objective was to perform a systematic review (SR) to evaluate the current evidence regarding KT outcomes as well as patient survival (PS), postoperative complications and urinary tract infections (UTI) in individuals with childhood LUTM. Methods: The search encompassed databases of Web of Science, Medline (via PubMed), and Embase (via Scopus) to identify all studies reporting outcomes on KT for patients with LUTM. The research included articles published in English from January 1995 till September 2023. Results: Of the 2634 yielded articles, 15 met the inclusion criteria, enrolling a total of 284,866 KT patients. There was significantly better 5-year graft survival (GS) in recipients with LUTM compared to the control group (RR, 1.04; 95% CI 1.02–1.06); while GS at 1-year and 10-year, and PS at 1-year, 5-year and 10-year were similar between groups. On the other hand, the postoperative UTI rate was significantly higher in the LUTM group (RR: 4.46; 95% CI 1.89–10.51). However, data on serum creatinine and estimated glomerular filtration rate on follow-up were insufficient. Conclusion: GS and PS rates appear to be similar in patients with childhood LUTM and those with normal lower urinary tract functions. Despite a higher postoperative UTI rate within this patient group, it appears that this has no effect on GS rates. [ABSTRACT FROM AUTHOR]

Epidemiologic studies of birth defects often conduct separate analyses for cases that have isolated defects (e.g., spina bifida only) and cases that have multiple defects (e.g., spina bifida and a congenital heart defect). However, in some instances, cases with additional defects (e.g., spina bifida and clubfoot) may be more appropriately considered as isolated because the co‐occurring defect (clubfoot) is believed to be developmentally related to the defect of interest. Determining which combinations should be considered isolated can be challenging and potentially resource intensive for registries. Thus, we developed automated classification procedures for differentiating between isolated versus multiple defects, while accounting for developmentally related defects, and applied the approach to data from the Texas Birth Defects Registry (1999–2018 deliveries). Among 235,544 nonsyndromic cases in Texas, 89% of cases were classified as having isolated defects, with proportions ranging from 25% to 92% across 43 specific defects analyzed. A large proportion of isolated cases with spina bifida (44%), lower limb reduction defects (44%), and holoprosencephaly (32%) had developmentally related defects. Overall, our findings strongly support the need to account for isolated versus multiple defects in risk factor association analyses and to account for developmentally related defects when doing so, which has implications for interpreting prior studies. [ABSTRACT FROM AUTHOR]

Objective: Shone's complex comprises of a combination of congenital cardiac anomalies causing obstructions in the left ventricle's inflow and outflow tracts. This systematic review aims to evaluate the clinical features and surgical outcomes of Shone's complex. Methods: An electronic literature search of PubMed and Scopus was performed to identify relevant studies related to the presentation, management, and outcomes of Shone's complex. Two reviewers independently performed selection. Data on study characteristics, participant demographics, interventions, outcomes, and follow-up durations were extracted and analyzed. Results: A total of 691 papers were identified, with 18 studies included in the final analysis. The majority of the studies (n = 12) focused on the pediatric age group. The most common clinical presentations were coarctation of the aorta (n = 17) and mitral stenosis (n = 12). Surgical interventions often involved staged approaches, prioritizing outflow before inflow obstructions. Mitral valve repair was preferred over replacement due to better long-term outcomes (n = 8). Biventricular repair was recommended due to improved postoperative outcomes, but often needed reoperations. Reoperations were common, primarily due to recurrent coarctation (n = 10), subaortic stenosis (n = 8), and mitral valve dysfunction (n = 7). Pulmonary hypertension (n = 10) and arrhythmias (n = 11) were significant complications. Most patients were in modified Ross/NYHA functional class 1 on follow-up. Mortality rates ranged from 4 to 28%, with better outcomes associated with early and strategic surgical interventions. Conclusion: Early diagnosis and biventricular repair were associated with better outcomes while transplantation was often an eventuality. Standardized diagnostic criteria, long-term follow-up, and consensus guidelines are needed to improve the management of this congenital heart disease. [ABSTRACT FROM AUTHOR]

Mammals as a rule have seven cervical vertebrae, a number which remains remarkably conserved. Occasional deviations of this number are usually due to the presence of cervical ribs on the seventh vertebra, indicating a homeotic transformation from a cervical rib-less vertebra into a thoracic rib-bearing vertebra. These transformations are often associated with major congenital abnormalities or pediatric cancers (pleiotropic effects) that are, at least in humans, strongly selected against. Based on data from Late Pleistocene mammoths (Mammuthus primigenius) and woolly rhinoceroses (Coelodonta antiquitatis) from the North Sea, we hypothesized that high incidences of cervical ribs in declining populations are due to inbreeding and/or adverse conditions impacting early pregnancies. In this study, we investigated the incidence of cervical ribs in an extinct Late Pleistocene megaherbivore, giant deer (Megaloceros giganteus) from Ireland and in the extant highly inbred Père David deer (Elaphurus davidianus) and in twenty other extant species. We show that the incidence of cervical ribs is exceptionally high in both the Irish giant deer and the Père David deer and much higher than in extant outbred deer. Our data support the hypothesis that inbreeding and genetic drift increase the frequencies of maladaptive alleles in populations at risk of extinction. The high incidence of cervical ribs indicates a vulnerable condition, which may have contributed to the extinction of megaherbivore species in the Late Pleistocene. We argue that cervical rib frequency may be a good proxy for extinction risk in inbred populations. [ABSTRACT FROM AUTHOR]

Urogenital reconstructive malformation surgery is sometimes hampered by lack of tissue for the repair. We have previously shown that autologous micrografting allows for single-staged scaffold cellularization after surgical implantation. Here, a collagen-based scaffold reinforced with biodegradable mesh and a stent was implanted as a bladder conduit in ten full-grown female minipigs. We aimed to assess short-term regenerative outcomes, safety, and feasibility of implanting tubular urinary micrografted scaffolds versus acellular controls. Five scaffolds were embedded with autologous urothelial micrografts harvested perioperatively. After six weeks, all animals were assessed by cystoscopy, CT-urography, and microanatomical assessment of the urinary conduits. The procedure proved technically feasible within the confines of a regular surgical theater, with duration-times comparable to corresponding conventional procedures. No animals experienced postoperative complications, and all implanted conduits were patent at follow-up. Improved tissue regeneration was observed in the micrografted conduits compared with the acellular controls, including increased luminal epithelialization, increased cell proliferation, decreased cell apoptosis, and increased conduit vascularization. We concluded that single-staged on-site construction and implantation of tissue engineered urinary conduits proved feasible and safe, with improved regenerative potentials in micrografted conduits. This study presents a new approach to urinary conduits, and merits further investigations for advancement towards clinical translation. [ABSTRACT FROM AUTHOR]

Objectives: We sought to identify in which clinical scenarios 3D printed models are used to plan for fetal surgeries as well as the main purpose and the imaging method utilized for the models. In addition, we describe benefits and shortcomings of the models, as well as potential future improvements. Methods: In this scoping review, data were collected retrospectively from scientific databases (PubMed, Embase, Cochrane CENTRAL, CINAHL, Scopus, and the Web of Science platform) and screened by title, abstract, and full text against strict criteria. The inclusion criteria required the study be performed on a live fetus and involve 3D models used for fetal surgery. The models must have been designed from diagnostic imaging modalities such as CT, MRI, or ultrasound. The articles considered include clinical trials, review articles, cohort studies, case series, case reports, and conference abstracts. Results: Of the initial 742 articles collected, six met the inclusion criteria. Spina bifida and EXIT procedures were the most frequent use cases that inspired surgeons to print models for surgical planning. The ability to view patient-specific anatomy in a 3D handheld model was often touted as providing a great benefit to the surgical team's ability to anticipate intraoperative challenges. Conclusions: Three-dimensional printing models have been applied to plan for fetal surgeries, more specifically, for EXIT procedures and fetoscopic surgical repair of spina bifida. The potential benefits of 3D printing in fetal surgery are enormous. [ABSTRACT FROM AUTHOR]

Purpose: This meta-analysis aimed to comprehensively assess the teratogenic risk to offspring associated with continuing pregnancy after administering mifepristone and/or misoprostol during gestation. Methods: We conducted a systematic search of multiple databases, including PubMed, Web of Science, Embase, Cochrane, CNKI, and CBM, from their inception to February 2024, with no language restrictions. We included cohort and case–control studies that analyzed the teratogenic effects of mifepristone and/or misoprostol on fetuses and newborns. Quality assessment was performed using the Newcastle–Ottawa Scale (NOS). The odds ratios (OR) from individual studies were combined using meta-analysis. Sensitivity testing and heterogeneity analysis were conducted. Results: A total of 13 studies were eligible for inclusion, comprising 5193 cases of congenital malformations and 12,232 controls. Conclusion: Our findings indicated that the use of misoprostol during early pregnancy increased the risk of congenital abnormalities in offspring (OR = 2.69; 95% CI: 1.57–4.62). However, the potential teratogenic effect of mifepristone during pregnancy cannot be ruled out. Additionally, the use of mifepristone and/or misoprostol has been linked to a higher risk of certain congenital anomalies, such as hydrocephalus (OR = 3.41; 95% CI: 1.17–9.97), Möbius syndrome (OR = 26.48; 95% CI: 11.30–62.01), and terminal transverse limb defects (OR = 10.75; 95% CI: 3.93–29.41). (PROSPERO, CRD42024522093, 03182024). [ABSTRACT FROM AUTHOR]

Background: Mortality from congenital heart disease has decreased considerably in the last two decades due to improvements in overall health care. However, there are barriers to access to healthcare in Latin America for this population, which could be related to factors such as healthcare system, policies, resources, geographic, cultural, educational, and psychological factors. Understanding the barriers to access to care is of paramount importance for the design and implementation of policies and facilitate the provision of care. Aim: The aim of the study was to investigate the perception of barriers to access to health care on parents/guardians of children with congenital heart disease in selected Latin American countries. Methods: A descriptive, cross‐sectional study, in which parents/guardians or primary caregivers of children with congenital heart disease was recruited to participate and surveyed. Once the informed consent process had been completed, a set of paper‐based scales was used to collect data, namely socioeconomic and demographic information, the Barriers to Care for Children with Special Health Care Needs Questionnaire, and the General Health Questionnaire. Results: In total, 286 participants completed the surveys, with an average age of 34.81 years and 73.4% being female. Mean score of overall barriers was 54.45 (minimum score 39, maximum score 195, higher scores show greater perception of barriers). In Mexico, the parents/guardians of children perceived fewer barriers to access (46.69), while Peru is the country where the most barriers were perceived (69.91). Nonpoor participants showed higher overall barrier perception scores (57.34) than poor participants (52.58). The regression analysis demonstrated the overall perception of barriers was positively associated with individual and social factors, such as educational level, contract status, household monthly income, and psychological well‐being and with the country of the participants. Conclusions: Multiple factors are associated with the perception of barriers to accessing health care for children with congenital heart disease, including socioeconomic status, expectations, psychological well‐being, and structural factors. [ABSTRACT FROM AUTHOR]

This case report explores the left atrial mitral valve cord, an extremely rare congenital anomaly. Typically involving mitral valve leaflets and associated with mild mitral regurgitation, it is rarely documented independently. A 51-year-old patient presented with dizziness, and diagnostic challenges arose during transthoracic echocardiography (TTE). Advanced 3-dimensional transesophageal echocardiography (3D TEE) proved invaluable for accurate mapping, revealing a unique, unattached left atrial mitral valve cord.

Preterm neonate of 35+4 weeks, delivered by cesarean section due to non-reassuring fetal status. Prenatal ultrasound history of intrauterine growth restriction, cardiac malformations, and suspected central nervous system abnormalities. At birth, the neonate presented with a dysmorphic syndrome, choanal atresia, low ear implantation with bilateral malformation of the auricular pavilions and micropenis. The karyotype reported variants in chromosomes 15 and Y. A medical genetics specialist clinically diagnosed CHARGE syndrome. The patient received multidisciplinary management, requiring invasive mechanical ventilation, tracheostomy, thoracostomy and gastrostomy. He was discharged but readmitted due to aspiration pneumonia and died before a molecular diagnosis of the presence of a pathogenic variant for CHD7 could be made. This report constitutes a case of clinical diagnosis of CHARGE syndrome that presented structural alterations in chromosomes 15 and Y, which have not been described or associated in the literature as responsible for the etiology of this syndrome.

The early stages of life pose feeding challenges for infants with Congenital Diaphragmatic Hernia (CDH), necessitating feeding tube placement to prevent growth failure. Predicting the factors prompting this intervention has yielded inconclusive findings in prior research. Thus, this review explored prenatal, perinatal, and postnatal variables associated with feeding tube placement in CDH. Retrospective cohort or case-control reporting outcomes linked to prenatal, antenatal or postnatal predictors of feeding tube placement were included, following PRISMA 2020 guidelines. Reports, case series, conference abstracts, book sections, commentary, reviews, and editorials were excluded. Database searches were conducted in August 2023 encompassed Cochrane, MEDLINE, ProQuest, Wiley, and Google Scholar. Quality assessment using the Newcastle-Ottawa Scale and Review Manager 5.4 performed meta-analysis. Within eight studies, four exhibited a low risk of bias and the other was categorized as moderate. Analysis revealed significant effects for liver herniation (OR = 3.24, 95%CI 1.64-6.39, P = 0.0007), size of herniated defects classified as C or D (OR = 7.12, 95%CI 3.46-14.65, P < 0.00001), Extracorporeal Membrane Oxygenation treatment (ECMO) (OR = 6.05, 95%CI 4.51-8.12, P < 0.00001), and patch repair (OR = 5.07, 95%CI 3.89-6.62, P < 0.00001). ECMO treatment and patch repair surgery are robust predictors of feeding tube placement in CDH infants. Although liver herniation and size of herniated defect also showed associations, further studies are needed to address heterogeneity concerns. The review was registered in PROSPERO with the number CRD42023480109. No funding was received.

Abstract Urogenital reconstructive malformation surgery is sometimes hampered by lack of tissue for the repair. We have previously shown that autologous micrografting allows for single-staged scaffold cellularization after surgical implantation. Here, a collagen-based scaffold reinforced with biodegradable mesh and a stent was implanted as a bladder conduit in ten full-grown female minipigs. We aimed to assess short-term regenerative outcomes, safety, and feasibility of implanting tubular urinary micrografted scaffolds versus acellular controls. Five scaffolds were embedded with autologous urothelial micrografts harvested perioperatively. After six weeks, all animals were assessed by cystoscopy, CT-urography, and microanatomical assessment of the urinary conduits. The procedure proved technically feasible within the confines of a regular surgical theater, with duration-times comparable to corresponding conventional procedures. No animals experienced postoperative complications, and all implanted conduits were patent at follow-up. Improved tissue regeneration was observed in the micrografted conduits compared with the acellular controls, including increased luminal epithelialization, increased cell proliferation, decreased cell apoptosis, and increased conduit vascularization. We concluded that single-staged on-site construction and implantation of tissue engineered urinary conduits proved feasible and safe, with improved regenerative potentials in micrografted conduits. This study presents a new approach to urinary conduits, and merits further investigations for advancement towards clinical translation.

Background The umbilical cord forms the connection between the fetus and the placenta at the feto-maternal interface and normally comprises two umbilical arteries and one umbilical vein. In some cases, only a single umbilical artery (SUA) is present. This study was conducted to evaluate associations between SUA and other congenital malformations discovered in perinatal autopsies and to ascertain the existence of preferential associations between SUA and certain anomalies. Methods We evaluated records of all fetuses sent for autopsy to the Department of Pathology during the 10-year period from 2013 through 2022 (n = 1,277). The data were obtained from the hospital’s pathology laboratory records. The congenital anomalies were grouped by organ or system for analysis and included cardiovascular, urinary tract, nervous system, gastrointestinal tract, musculoskeletal, and lung anomalies. Results A SUA was present in 8.61% of the autopsies. The gestational age of the affected fetuses ranged between 13 to 40 weeks. An SUA presented as an isolated single anomaly in 44 cases (3.4%). Of the 110 SUA cases, 60% had other congenital anomalies. There was a significant association between birth defects and SUAs (p < .001). Strong associations between SUA and urinary tract, lung, and musculoskeletal anomalies were observed. Conclusions A SUA is usually seen in association with other congenital malformations rather than as an isolated defect. Therefore, examination for associated anomalies when an SUA is detected either antenatally or postnatally is imperative. The findings of this study should be helpful in counseling expectant mothers and their families in cases of SUA.

Background: Complex gastroschisis is a rare variant characterized by intrauterine closure of the abdominal defect, which can be accompanied by atresia, necrosis, and, in most cases, lead to short bowel syndrome. This is the first case of gastroschisis presenting as a whirl pattern of loops and raises suspicion of intestinal ischemia and atresia. Case Report: A newborn at 38 weeks of gestation with a prenatal diagnosis of complex gastroschisis presented with a whirl pattern of gastroschisis and jejunal atresia. The newborn was treated with staged closure of the defect and underwent a second surgical procedure for correction of jejunal atresia, with a successful outcome observed during 2 years of follow-up. Conclusion: Whirl pattern gastroschisis is a rare presentation of complex gastroschisis, and its diagnosis can be made prenatally, allowing for the preparation of medical and surgical management at birth. It is necessary to actively search for the presence of intestinal atresia or ischemia in this type of presentation.

Background: Congenital abnormalities are defects present at birth and are increasingly becoming an important cause of neonatal mortality. They can also result in disability in majority of the survivors. Objective: To describe the pattern and outcome of major congenital abnormalities (MCA) in a tertiary hospital in Lagos, Nigeria. Methods: The labour ward and labour ward theatre delivery records and admission records of the in-born ward of the neonatal unit of a tertiary hospital were reviewed retrospectively from January 2007 to December 2014. The MCA were classified according to the 10th revision of the International Statistical Classification of Diseases and Related Health Problems, (ICD-10). Multiple abnormalities were counted once by the system with the most major anomaly. Abnormalities were grouped according to organ systems, sex and yearly distribution. Statistical analysis was based on systemic type, and neonatal outcome. Results: Out of 14581 deliveries during the study period, 167 had MCA, giving an incidence of 11.5 per 1000 total births; 71 (42.5%) were females, 91 (54.5%) were male and 5(3.0%) had indeterminate sex. There was an increase in the yearly incidence from 2007-2014 The most frequent abnormalities were in the central nervous system (31.7%), musculoskeletal system (18.6%), complex congenital abnormalities group (15.5%) and urogenital system (11.4%). Fifty six (31.8%) infants died in the first week of life contributing 12.6% to the overall early neonatal mortality during the study period. Overall case fatality rate was 42.0%; case fatality was highest in the other abnormalities group, followed by chromosomal, cardiovascular and genitourinary system abnormalities respectively. Conclusion: The incidence of MCA in this study is high especially in the central nervous system. There was a steady increase in the yearly incidence during the study period. The overall case fatality rate was also very high with a high contribution to early neonatal deaths

Derya Suluhan,1 Rahma Yusuf Haji Mohamud2 1Department of Pediatric Nursing, Gulhane Faculty of Nursing,University of Health Sciences Türkiye, Ankara, Türkiye; 2Department of Education, Mogadishu Somalia-Turkey Recep Tayyip Erdo&gbreve;an Training and Research Hospital, Mogadishu, SomaliaCorrespondence: Rahma Yusuf Haji Mohamud, Department of Education, Mogadishu Somalia-Turkey Recep Tayyip Erdogan Training and Research Hospital, Mogadishu, Somalia, Tel +252615216313, Email samiihayusuf@gmail.comBackground: Treatment of anorectal malformations (ARM) and the management of clinical outcomes are challenging for families. While most studies focus on mothers suffering from care burden, high stress, and low quality of life, there is limited knowledge of what fathers of children with ARM experience; therefore, this study aimed to examine how both mothers and fathers have experience caring for children with ARM and how beliefs and cultural issues affect the perception of congenital anomalies.Methods: A qualitative design. Consolidated criteria for reporting the qualitative research guidelines were used in this study. The guidelines for thematic analysis were followed for data analysis.Results: Ten mothers and six fathers were interviewed, and their mean age was 32.5 ± 4.2 years. Of the 75% (n = 12) illiterate and 93.7% (n = 15) had an expanded family type, all their religious affiliations were Muslim. The four main themes were (1) ambiguity, (2) challenges, (3) stigma, and (4) coping, which were determined in line with the results of the data analysis of parents’ views on having and caring for children with ARM.Conclusion: In this study, many Somali parents reported that they lacked disease and treatment knowledge, physical exhaustion, and some difficulties related to a lack of access to the hospital because of living in rural areas, caring for the child, and dealing with long-term complications, colostomy, anal dilatation, and enema before or after anoplasty. While all parents mentioned that having a child with ARM was a fate, it was seen as punishment by their close social environment. Consequently, this study could serve as a foundation for planning comprehensive healthcare and physical and psychosocial support for multidisciplinary health professionals.Keywords: anorectal malformation, pediatric colorectal, parenting, quality of life, care burden, congenital abnormalities

Congenital birth defects (CBD) play a significant role in causing child mortality globally. The incidence and mortality of CBD vary widely across countries, and the underlying causes for this divergence remain incompletely comprehended. We conducted an analysis to investigate the relationship between the incidence and mortality of CBD in 189 countries and their Human Development Index (HDI). In this study, CBD data from 189 countries was used from the Global Burden of Diseases Study (GBD) 2019, and HDI data was collected for the same countries. Later, the relationship between CBD and HDI was analyzed, and the impact of gross national income (GNI) per capita, expected years of schooling, mean years of schooling and life expectancy at birth was quantified using principal component regression. The age-standardized incidence rate (ASIR) varied between 66.57 to 202.24 per 100,000, with a 95% uncertainty interval (UI) of 57.20-77.51 and 165.87-241.48 respectively. The age-standardized mortality rate (ASMR) also showed a rang from 1.38 to 26.53 (14.03-39.90) per 100,000, with the 95%UI of 0.91-2.09 and 14.03-39.90 respectively. Both the incidence and mortality rates of CBD decreased with the increased HDI (incidence: r = -0.38, p < 0.001, mortality: r = -0.77, p < 0.001). Our investigation revealed significant variations in the incidence and mortality of CBD among countries with different development levels. In conclusion, the global incidence and mortality of CBD vary significantly among countries, possibly due to differences in the accessibility of health services. [ABSTRACT FROM AUTHOR]

Background: Certain associations observed in the National Birth Defects Prevention Study (NBDPS) contrasted with other research or were from areas with mixed findings, including no decrease in odds of spina bifida with periconceptional folic acid supplementation, moderately increased cleft palate odds with ondansetron use and reduced hypospadias odds with maternal smoking. Objectives: To investigate the plausibility and extent of differential participation to produce effect estimates observed in NBDPS. Methods: We searched the literature for factors related to these exposures and participation and conducted deterministic quantitative bias analyses. We estimated case‐control participation and expected exposure prevalence based on internal and external reports, respectively. For the folic acid‐spina bifida and ondansetron‐cleft palate analyses, we hypothesized the true odds ratio (OR) based on prior studies and quantified the degree of exposure over‐ (or under‐) representation to produce the crude OR (cOR) in NBDPS. For the smoking‐hypospadias analysis, we estimated the extent of selection bias needed to nullify the association as well as the maximum potential harmful OR. Results: Under our assumptions (participation, exposure prevalence, true OR), there was overrepresentation of folic acid use and underrepresentation of ondansetron use and smoking among participants. Folic acid‐exposed spina bifida cases would need to have been ≥1.2× more likely to participate than exposed controls to yield the observed null cOR. Ondansetron‐exposed cleft palate cases would need to have been 1.6× more likely to participate than exposed controls if the true OR is null. Smoking‐exposed hypospadias cases would need to have been ≥1.2 times less likely to participate than exposed controls for the association to falsely appear protective (upper bound of selection bias adjusted smoking‐hypospadias OR = 2.02). Conclusions: Differential participation could partly explain certain associations observed in NBDPS, but questions remain about why. Potential impacts of other systematic errors (e.g. exposure misclassification) could be informed by additional research. [ABSTRACT FROM AUTHOR]

Detecting ureteral injury—a serious intraoperative and postoperative complication of hysterectomy—is a high level of difficulty if ureteral malformations are not identified preoperatively. A 39‐year‐old Japanese woman underwent total laparoscopic hysterectomy for uterine adenomyosis. During surgery, ureteral peristalsis was absent on the right side, whereas the left ureter was visible under the peritoneum. Transabdominal ultrasonography failed to locate the right kidney, with cystoscopy showing no flow from the right ureteral orifice. The ureteral tunnel was identified by tracing the vascular path of the internal iliac and uterine arteries, confirming that the corded tissue was the right ureter. Postoperative contrast‐enhanced CT revealed severe right kidney atrophy with no contrast effect or connected ureter. Based on intraoperative laparoscopy and postoperative examination, a diagnosis of a unilateral ureteral scar with a proximal blind end and ipsilateral renal dysgenesis was established, marking the first reported instance of endoscopic visualization of this anomaly. In addition to normal pelvic anatomy, surgeons must consider embryological abnormalities to prevent intraoperative complications. [ABSTRACT FROM AUTHOR]

STUDY QUESTION What is the current practice and views on (expanded) carrier screening ((E)CS) among healthcare professionals in medically assisted reproductive (MAR) practices in Europe? SUMMARY ANSWER The findings show a limited support for ECS with less than half of the respondents affiliated to centres offering ECS, and substantial variation in practice between centres in Europe. WHAT IS KNOWN ALREADY The availability of next-generation sequencing, which enables testing for large groups of genes simultaneously, has facilitated the introduction and expansion of ECS strategies, currently offered particularly in the private sector in the context of assisted reproduction. STUDY DESIGN, SIZE, DURATION A cross-sectional survey evaluating practice and current views among professionals working in MAR practice in different European countries was designed using the online SurveyMonkey tool. The web-based questionnaire included questions on general information regarding the current practice of (E)CS in MAR and questions on what is offered, to whom the test is offered, and how it is offered. It consisted mostly of multiple-choice questions with comment boxes, but also included open questions on the respondents' attitudes/concerns relevant to (E)CS practice, and room to upload requested files (e.g. guidelines and gene panels). In total, 338 responses were collected from 8 February 2022 to 11 April 2022. PARTICIPANTS/MATERIALS, SETTING, METHODS The online survey was launched with an invitation email from the ESHRE central office (n = 4889 emails delivered) and the European Society of Human Genetics (ESHG) central office (n = 1790 emails delivered) sent to the ESHRE and ESHG members, and by social media posts. The survey was addressed to European MAR centres or gamete banks and to centres located in non-European countries participating in the European IVF-monitoring Consortium. Two reminder emails were sent. After exclusion of 39 incomplete responses received (e.g. only background information), 299 respondents from 40 different countries were included for analyses. MAIN RESULTS AND THE ROLE OF CHANCE Overall, 42.5% (127/299) of respondents were affiliated to centres offering ECS. The perceived responsibility to enable prospective parents to make informed reproductive decisions and preventing suffering/burden for parents were the main reasons to offer ECS. A single ECS panel is offered by nearly 45% (39/87 received answers) of the centres offering ECS, 25.3% (22/87) of those centres offer a selection of ECS panels, and 29.9% (26/87) offer whole exome sequencing and a large in silico panel. Different ranges of panel sizes and conditions were included in the ECS panel(s) offered. Most of the respondents (81.8%; 72/88 received answers) indicated that the panels they offer are universal and target the entire population. Pathogenic variants (89.7%; 70/78 received answers), and to a lesser extent, likely pathogenic variants (64.1%%; 50/78 received answers), were included in the ECS report for individuals and couples undergoing MAR with their own gametes. According to 87.9% (80/91 received answers) of the respondents, patients have to pay to undergo an ECS test. Most respondents (76.2%; 61/80 received answers) reported that counselling is provided before and after the ECS test. Preimplantation genetic testing, the use of donor gametes, and prenatal diagnostic testing were the three main reproductive options discussed with identified carrier couples. The main reason, according to the respondents, for not offering ECS in their centre, was the lack of professional recommendations supporting ECS (52.5%; 73/139 received answers) and the high cost for couples or reimbursement not being available (49.6%; 69/139). The challenges and moral dilemmas encountered by the respondents revolved mainly around the content of the offer, including the variants classification and the heterogeneity of the panels, the counselling, and the cost of the test. LIMITATIONS, REASONS FOR CAUTION Although the total number of respondents was acceptable, the completion rate of the survey was suboptimal. In addition, the heterogeneity of answers to open-ended questions and the ambiguity of some of the answers, along with incomplete responses, posed a challenge in interpreting survey results. It is also plausible that some questions were not easily understood by the respondents. For this reason, response and non-response bias are acknowledged as further limitations of the survey. WIDER IMPLICATIONS OF THE FINDINGS The results of this survey could aid in identifying potential challenges or areas for improvement in the current practice of ECS in the MAR field and contribute to the discussion on how to address them. The results underline the need to stimulate a more knowledge-based debate on the complexity and the pros and cons of a possible implementation of ECS in MAR. STUDY FUNDING/COMPETING INTEREST(S) All costs relating to the development process were covered from European Society of Human Reproduction and Embryology and European Society of Human Genetics funds. There was no external funding of the development process or manuscript production. A.C. is full-time employee of Juno Genetics. L.H. declared receiving a research grant during the past 36 months from the Netherlands Organisation for Health Research and Development. She has also participated in a Health Council report of the Netherlands on preconception carrier screening and collaborated with the VSOP Dutch Genetic Alliance (patient umbrella organization on rare and genetic disorders). L.H. and C.v.E. are affiliated with Amsterdam University Medical Centre, a hospital that offers ECS in a non-commercial setting. R.V. received honoraria for presentations from Merck Academy and is unpaid board member of the executive committee of the Spanish Fertility Society. The other authors had nothing to disclose. TRIAL REGISTRATION NUMBER N/A. [ABSTRACT FROM AUTHOR]

Background: Cerebro-costo-mandibular syndrome (CCMS) is a rare congenital syndrome consisting of the main features of micrognathia and posterior rib gaps. Due to multiple abnormalities, patients almost have difficulty breathing with upper airway obstruction, decreased thoracic capacity, spina bifida, and scoliosis. Case presentation: We describe a case of a late preterm neonate boy presenting with low Apgar, respiratory distress, and complicated orofacial anomalies that had a poor outcome. His radiographic findings showed mandibular hypoplasia (micrognathia), chest deformity, multiple posterior rib gap defects, and abnormal costotransverse articulation. Based on physical examination and radiologic findings, the diagnosis of CCMS confirmed for the patient. Conclusion: Physicians should always consider the diagnosis of CCMS in all infants with micrognathia and rib-gap defects. These infants need careful respiratory function monitoring. Early airway management improves growth and development. In addition, their physical and psychological development should be assessed regularly. [ABSTRACT FROM AUTHOR]

Background: Uterus didelphys is a rare congenital anomaly of the female reproductive tract characterized by a divided uterine cervix and body. It occurs due to abnormal development of the paramesonephric (Müllerian) duct. Different forms of uterus didelphys have been reported in several animal species, including bovine, equine, ewe, goat, swine, and bitch. However, there is no previous report that has documented a completely divided female genital tract in she-camel. Moreover, there is a lack of literature regarding this anomaly in animals. Therefore, the present study reports, for the first time, a rare case of a completely divided female genital tract in a she-camel. In addition, the existing relevant literature on uterus didelphys in different animal species is reviewed. Case presentation: A female reproductive tract of she-camel, approximately 10  years old, with a history of previous successful pregnancy, was brought to the anatomy department following the slaughtering of the animal. Initial examination revealed a normal reproductive tract consisting of two ovaries, two fallopian tubes, a uterus, and a vagina. A closer examination revealed a completely divided vagina, with an external os opened into each part of the vagina, as well as a divided uterine body and cervix. Intrauterine infusion of saline through one external os confirmed complete separation of uterine body and cervix. Conclusion: To the authors’ knowledge, this is the first reported case of a completely divided female genital tract in a she-camel. This review summarizes the previous reports about uterus didelphys in farm animals. [ABSTRACT FROM AUTHOR]

Twelve-years-old girl, with prenatal diagnosis of right renal agenesis, menarche at eleven-years-old, presenting with dysmenorrhea, metrorrhagia and menorrhagia. On objective examination, she presented diffuse pain on deep abdominal palpation, without masses. Laboratory tests were unremarkable. A supra-pubic pelvic ultrasound revealed a heterogeneous nodular structure with benign characteristics measuring 4x3,5cm, which seemed to correspond to a teratoma. The patient was referred to pediatric oncology. The analytical study was extended, including tumor markers, without alterations. Abdominal-pelvic CT and MR scan revealed uterine malformation and distension of the vaginal canal by hematic content. Diagnosis of Herlyn-Werner-Wunderlich Syndrome (HWWS) was made. Oriented to gynecology and submitted to drainage of the hematocolpos. Currently, she is on oral iron, due to anemia, contraceptives and analgesia with progressive improvement. HWWS is a rare congenital anomaly of the female urogenital tract, characterized by bicorporeal uterus, obstructed hemivagina and ipsilateral renal agenesis. Symptoms are usually after menarche and nonspecific. [ABSTRACT FROM AUTHOR]

Background: The retrocaval ureter represents a rare congenital anomaly that occurs in 0.1% of the population and causes progressive ureterohydronephrosis, most of which are asymptomatic. Case Report: In this case report, the retrocaval ureter detected in an adult male complaining of right-sided colicky flank pain is discussed. Conclusion: This condition, whose main cause is an anomaly in the development of the vena cava, is easily diagnosed with imaging methods, and its symptoms can be completely corrected with surgical treatment. [ABSTRACT FROM AUTHOR]

Objective: Diamond–Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer. The purpose of this study is to determine the congenital abnormalities and dysmorphological features of DBA patients in a cross-sectional manner. Materials and Methods: The study group included patients who had diagnosis of DBA between 1983 and 2017. Dysmorphological examinations of the patients were performed by an experienced dysmorphologist and also echocardiography and abdominal ultrasonography were performed in order to figure out cardiac and urogenital abnormalities. Results: A total of 45 patients were examined in this study. Dysmorphological examination, echocardiography, and abdominal ultrasonography revealed the rate of congenital abnormalities as high as 88.7%. In consideration of the congenital abnormalities, the most common findings were craniofacial, followed by skeletal abnormalities. Conclusion: The rate of anomalies was found higher in our series of patients than that have been previously reported, most probably due to the evaluations being performed by a dysmorphologist in our cohort and not only depending on patient records or hematologists’ physical examination. [ABSTRACT FROM AUTHOR]

Background: Complex gastroschisis is a rare variant characterized by intrauterine closure of the abdominal defect, which can be accompanied by atresia, necrosis, and, in most cases, lead to short bowel syndrome. This is the first case of gastroschisis presenting as a whirl pattern of loops and raises suspicion of intestinal ischemia and atresia. Case Report: A newborn at 38 weeks of gestation with a prenatal diagnosis of complex gastroschisis presented with a whirl pattern of gastroschisis and jejunal atresia. The newborn was treated with staged closure of the defect and underwent a second surgical procedure for correction of jejunal atresia, with a successful outcome observed during 2 years of follow-up. Conclusion: Whirl pattern gastroschisis is a rare presentation of complex gastroschisis, and its diagnosis can be made prenatally, allowing for the preparation of medical and surgical management at birth. It is necessary to actively search for the presence of intestinal atresia or ischemia in this type of presentation. [ABSTRACT FROM AUTHOR]

Objective: Infants of mothers with diabetes (IMD) may require hospitalization in neonatal intensive care units (NICU) for various reasons. In our study, our objective was to compare clinical and laboratory findings, as well as malformations and morbidities among IMD based on the types of maternal diabetes. Material and Methods: The diabetic status of mothers of 4713 infants admitted to tertiary neonatal intensive care unit (NICU) at Ankara Bilkent City Hospital between January 1, 2020, and January 1, 2022, was examined. We retrospectively analyzed demographic data, clinical and laboratory characteristics, and morbidities for 616 infants born to mothers with impaired glucose tolerance (IGT), gestational diabetes mellitus (GDM), or pre-existing gestational diabetes mellitus (Pre- GDM). Results: Of the 616 cases, 167 (27.1%) were infants of mothers with IGT, 394 (64%) with GDM and 55 (8.9%) with Pre-GDM. The prevalence of macrosomia was significantly higher in Pre-GDM (30.9%) than in the IGT (15%) and GDM (19.3%) groups (p=0.033). The most common malformations in the cases were related to the cardiovascular system (CVS) (77.4%). The frequency of septal hypertrophy was significantly higher in the Pre-GDM group compared to the IGT and GDM groups, and in the GDM group compared to the IGT group (p<0.001). The rates of septal hypertrophy, CVS malformation, LGA/macrosomia, and hypocalcemia were found to be significantly higher in infants of mothers with insulin requirement and high HbA1c levels, particularly in Pre-GDM group (p<0.001). According to the ROC analysis for the optimum maternal HbA1c value predicting septal hypertrophy, the threshold value was found to be 6% (AUC=0.693) with 62% sensitivity and 66% specificity. In logistic regression analysis, macrosomia and maternal HbA1c ≥6% were determined as independent risk factors for the presence of septal hypertrophy. Conclusion: Despite variations in the type of maternal diabetes, IMD experience significant clinical challenges when hospitalized and monitored in the NICU. Infants born to mothers with IGT may also be subjected to maternal hyperglycemia. The likelihood of certain complications rises in infants born to pregnant women with inadequate glycemic control, particularly those with elevated HbA1c levels. By ensuring maternal glycemic control and closely monitoring these infants, it is possible to reduce both mortality and morbidity. [ABSTRACT FROM AUTHOR]

Hearing impairments and dental anomalies are found in many genetic syndromes. Otodental syndrome is a rare combination of hearing loss and the presence of a pathognomonic dental phenotype known as globodontia, in which the tooth exhibits an abnormal globe shape. There is no histologic evidence of structural anomalies in the enamel, dentin, or pulp. This report describes the case of a 12-year-old boy who had hearing loss and 2 supernumerary globe-shaped teeth in the sites of the permanent maxillary central incisors. The diagnosis of otodental syndrome was established based on the clinical, radiographic, and histologic features, but other conditions, including dens evaginatus, talon cusp, dens invaginatus, and compound odontoma, should be included in the differential diagnosis. Dental treatment consisted of the extraction of both anomalous teeth, allowing spontaneous eruption of the impacted permanent central incisors. Early diagnosis of otodental syndrome permits a multidisciplinary approach to prevent other pathologic conditions, reduce functional damage, and avoid social problems, [ABSTRACT FROM AUTHOR]

Objective: To identify predictors for adverse pregnancy outcomes among women with pre-gestational diabetes. Methods: We retrospectively reviewed medical records of women with pre-gestational diabetes who attended the Tuen Mun Hospital between 1 January 2012 and 30 December 2022 for antenatal care and delivery. Composite adverse early perinatal outcomes included spontaneous fetal loss before 24 weeks and congenital malformations. Composite adverse maternal outcomes included pre-eclampsia and Caesarean section. Composite adverse neonatal outcomes included preterm delivery <37 weeks, small and large for gestational age, shoulder dystocia, hypoglycaemia, Apgar score <7 at 5 minutes, arterial cord blood pH <7.0, admission to a neonatal intensive care unit, stillbirth, and death within 28 days of life. Factors associated with adverse pregnancy outcomes were identified. Results: Among 245 women included in analysis, there were 10 spontaneous pregnancy losses before 24 weeks, four stillbirths, and 41 congenital malformations, which resulted in four terminations of pregnancy. The glycated haemoglobin (HbA1c) level at the first antenatal visit was a predictor for composite adverse early perinatal outcomes (adjusted odds ratio [aOR]=1.27, p=0.013). The rate of congenital anomaly increased threefold from 10% when the HbA1c level was <5.6% to 37.1% when the HbA1c level was >9.1% (p=0.003). Predictors for composite adverse maternal outcomes were a pre-pregnancy body mass index =25 kg/m2 (aOR=2.04, p=0.033) and chronic hypertension (aOR=3.59, p=0.009), whereas the predictor for composite adverse neonatal outcomes were the HbA1c level before delivery (aOR=1.57, p=0.025). Pre-pregnancy medical care was associated with a lower maternal HbA1c level at the first antenatal visit (6.8% vs 8.2%, p=0.002) and earlier gestational age at the first antenatal visit (8 vs 12 weeks, p<0.001), compared with no pre-pregnancy medical care. Conclusion: Maternal glycaemic control and body mass index are the major modifiable risk factors for adverse pregnancy outcomes in women with pre-gestational diabetes. Pre-pregnancy medical care should emphasise lowering the HbA1c level and bodyweight at early pregnancy to avoid adverse pregnancy outcomes. [ABSTRACT FROM AUTHOR]

Diprosopus is a congenital anomaly in which partial or complete duplication of craniofacial structures occurs. Because it is rare, the mortality rate is high, and information concerning this anomaly is scarce. This study describes a case of human diprosopus in a 9‐year‐old male individual, who has severe complications associated with the central nervous, cardiovascular, respiratory, and digestive systems. Since birth, he has been monitored in a specialized hospital environment, where he has undergone several surgeries and multidisciplinary treatments. Regarding the craniofacial aspects, he had agenesis of the corpus callosum, floor of the nasal cavity, and floor of the anterior cranial fossa, in addition to the presence of bone dysplasia, ocular hypertelorism and cleft palate with nasal and oral teratoma. Regarding dental characteristics, the patient has duplication of the maxilla, mandible, tongue, and some teeth. After complementary imaging exams, several supernumerary teeth were found, with some being impacted and in complex regions, with an indication for extraction due to the risks of impaction, irruptive deviation, root resorption, and associated cystic or tumoral lesions. Because of the numerous complications, knowledge, and preparation of the entire team is necessary for the correct management of the case. [ABSTRACT FROM AUTHOR]

Congenital Zika syndrome (CZS) is a major concern in India and highlights the multifaceted challenges posed by the Zika virus (ZIKV). The alarming increase in CZS cases in India, a condition that has serious effects on both public health and newborns, has raised concerns. This review highlights the importance of raising concern and awareness and taking preventive measures by studying the epidemiology, clinical symptoms, and potential long‐term consequences of CZS. The review also contributes to worldwide research and information sharing to improve the understanding and prevention of CZS. As India deals with the changing nature of CZS, this thorough review is an important tool for policymakers, health workers, and researchers to understand what is happening now, plan for what to do in the future, and work together as a team, using medical knowledge, community involvement, and study projects to protect newborns' health and reduce the public health impact of these syndromes. [ABSTRACT FROM AUTHOR]

Background Objectives Methods Results Discussion and conclusion Congenital urogenital anomalies affect 4–60 per 10,000 births. Maternal obesity, along with other risk factors, is well documented as a contributing factor. However, the impact of paternal obesity on risk is unclear. Obesity is prevalent among men of reproductive age, highlighting the need for further research into the potential association between paternal obesity and offspring congenital urogenital anomalies.This study aims to determine the association between paternal obesity and the risk of congenital urogenital malformations in offspring.Case–control study conducted on 179 newborns (91 cases, 88 controls) selected from the Notre Dame des Secours—university hospital database. Cases were identified as newborns presenting at least one congenital urogenital abnormality, defined as developmental anomalies that can result in a variety of malformations affecting the kidneys, ureters, bladder, and urethra. Controls were identified as newborns without any congenital abnormalities. The exclusion criteria were maternal obesity, infections during pregnancy, chronic diseases, prematurity, growth retardation, assisted reproductive technologies for conception, substance abuse, down syndrome, and other malformations. Data were collected through phone interviews, medical records, and questionnaires. In this study, the exposure was the preconceptional paternal body mass index (BMI), which was calculated based on self‐reported height and weight. According to guidelines from the US Centers for Disease Control and Prevention (CDC), individuals are considered to be in the healthy weight range if their BMI (kg/m2) is between 18.5 and < 25. They are classified as overweight if their BMI is ≥ 25, obese class I if their BMI is between 30 and < 35, obese class II if their BMI is between 35 and < 40, and obese class III if their BMI is 40 or higher. Logistic regression analysis was employed to quantify the association between paternal obesity and urogenital conditions in offspring.Significant differences in median (minimum–maximum) paternal BMI values were noted between the cases and controls at the time of conception (cases: 27.7 (43–20.1), controls: 24.8 (40.7–19.6); p < 0.0001). Logistic regression analysis confirmed that at the time of conception, compared to normal‐weight fathers, overweight fathers displayed a heightened risk of offspring congenital malformations, with an odds ratio (OR) of 4.44 (95% CI = 2.1–9.1). Similarly, fathers categorized as obese Class I at conception had approximately eight times higher odds (OR = 8.62, 95% CI = 2.91–25.52) of having offspring with urogenital conditions compared to normal‐weight fathers. Additionally, fathers classified as obese Class II at conception exhibited 5.75 times higher odds (OR = 5.75, 95% CI = 0.96–34.44) of having offspring with urogenital conditions in comparison to normal‐weight fathers.We found that the risk of urogenital malformations increased with paternal BMI during the preconceptional period. The findings suggest the importance of addressing paternal obesity in efforts to reduce the risk of urogenital congenital malformations in offspring. [ABSTRACT FROM AUTHOR]

Purpose: Spinal osteotomies are often essential in the treatment of congenital scoliosis. Risk factors for bleeding in these patients needing extracavitatory approaches, especially hidden blood loss, are sparsely investigated. We aimed to investigate the bleeding characteristics and hidden blood loss in paediatric patients undergoing spinal osteotomies for congenital scoliosis. Methods: A retrospective analysis identified all patients with congenital scoliosis were retrospectively identified from the prospectively collected spine register from 2010 to 2022. Operative technique, perioperative laboratory results and imaging studies were extracted. The primary outcome was total blood loss including intraoperative, drain output and hidden blood loss. Results: Fifty-seven children (32 boys) with a mean age of 8.3 years underwent spinal osteotomy for congenital scoliosis. Posterolateral hemivertebrectomy was sufficient in 34 (59%) patients, while vertebral column resection (VCR) was required in 23 patients. Total bleeding averaged 792 (523) ml accounting for 42% of the estimated blood volume. Hidden blood loss accounted for 40% of total bleeding and 21% of estimated blood volume with a mean of 317 (256) ml. VCR was associated with greater intraoperative and total bleeding than hemivertebrectomies (p = 0.001 and 0.007, respectively). After adjusting for patient weight and fusion levels, hidden blood loss was larger in hemivertebrectomies (4.18 vs. 1.77 ml/kg/fused level, p = 0.049). In multivariable analysis, intraoperative blood loss was inversely correlated with preoperative erythrocyte levels. Younger age was associated with significantly greater drain, hidden and total blood loss. Conclusion: Hidden blood loss constitutes a significant portion (40%) of total bleeding in congenital scoliosis surgery. Younger age is a risk factor for bleeding and the hidden blood loss should be taken into consideration in their perioperative management. [ABSTRACT FROM AUTHOR]

We assessed the risk of congenital anomalies in children who have a sibling with cancer. We performed a matched cohort study of children born between 2006 and 2022 in Quebec. The exposure was having a sibling with cancer. Exposed children were matched to unexposed children based on sex, number of siblings, birth order, and year. The outcome included heart defects, orofacial clefts, and other anomalies. Using conditional logistic regression, we estimated odds ratios (OR) and 95 % confidence intervals (CI) for the association between having a sibling with cancer and the likelihood of having a congenital anomaly. A total of 2403 children who had a sibling with cancer were matched to 240,257 unexposed children. Congenital anomalies were more frequent in children who had a sibling with cancer compared with unexposed children (10.3 % vs 8.9 %). Overall, having a sibling with cancer was only weakly associated with congenital anomalies (OR 1.18, 95 % CI 1.04–1.35). Exposed children tended to have greater odds of polydactyly/syndactyly (OR 1.89, 95 % CI 1.11–3.21) and urinary defects (OR 1.50, 95 % CI 1.09–2.08) compared with unexposed children. Children who have a sibling with cancer have an only weakly elevated risk of congenital anomalies. [ABSTRACT FROM AUTHOR]

Objectives: The aim was to investigate, how pregnancies proceed in patients with systemic lupus erythematosus (SLE) compared to their individually matched population controls. Material and methods: Adult incident SLE patients were identified from the register of new special reimbursement decisions for SLE drugs in 2000–2014. For each patient, 1–3 randomly selected controls from the Population Register Centre were matched. Data regarding pregnancies were obtained from the Finnish Medical Birth Register, Care Register and Register of Congenital Malformations until 2018. The study utilized data from the Drug Purchase Register and educational information from Statistic Finland. Results: A total of 163 deliveries for 103 mothers with SLE and 580 deliveries for 371 population controls were identified. The duration of pregnancies in SLE women was significantly shorter compared to controls (38.9 versus 39.6 weeks). There were more urgent Caesarean Sections. (15% versus 9%) and need for care at neonatal intensive care unit (NICU) (21% versus 11%) among deliveries in SLE mothers. No statistical difference was observed between SLE and control groups in the occurrence of preeclampsia or major congenital malformations. Gestational age was 2.5 weeks shorter when the mother experienced pre-eclampsia. Hydroxychloroquine was purchased by 30% of SLE mothers during pregnancy. Conclusion: The course of pregnancies in Finnish SLE patients seems to be quite moderate compared to controls, and no new safety issues were detected. The low utilization of hydroxychloroquine indicates that the benefits of the drug to pregnancy and disease course are not optimally recognized by specialists treating SLE mothers. [ABSTRACT FROM AUTHOR]

Congenital midline cervical cleft is a rare anomaly classified as a malformation of the branchial arches and represents less than 2% of congenital cervical malformations. Its clinical presentation involves cervical midline deformities: cephalic nodular lesion, linear groove with atrophic surface, and/or caudal sinus. Other midline alterations of variable complexity may also be present. Early treatment allows for avoiding long-term complications. Based on our experience in four clinical cases, a performed literature search on the topic in the last twenty years, and subsequent discussion of the employed surgical approaches, we included 150 reported cases in our review. Correct diagnosis and early treatment with complete removal of the fibrous midline band is paramount to avoid patient complaints until adolescence or adulthood. [ABSTRACT FROM AUTHOR]

PurposeAlthough congenital anomalies of the kidney and urinary tract (CAKUT) are among the leading causes of end-stage kidney disease (ESKD) in children and young adults, kidney transplantation access for this population has not been well studied in the US. We compared transplantation access in the US based on whether the etiology of kidney disease was secondary to CAKUT, and additionally by CAKUT subgroups (anatomic vs. inherited causes of CAKUT).MethodsUsing the United States Renal Data System, we conducted a retrospective cohort study of 80,531 children and young adults who started dialysis between 1995 and 2015. We used adjusted Cox models to examine the association between etiology of kidney disease (CAKUT vs. non-CAKUT, anatomic vs. inherited) and receipt of kidney transplantation, and secondarily, receipt of a living vs. deceased donor kidney transplant.ResultsOverall, we found an increased likelihood of kidney transplantation access for participants with CAKUT compared to those without CAKUT (HR 1.23; 95% CI 1.20-1.27). Among the subset of individuals with CAKUT as the attributed cause of ESKD, we found a lower likelihood of kidney transplantation in those with anatomic causes of CAKUT compared to those with inherited causes of CAKUT (adjusted HR 0.85; 0.81-0.90).ConclusionThere are notable disparities in kidney transplantation rates among CAKUT subgroups. Those with anatomic causes of CAKUT started on dialysis have significantly reduced access to kidney transplantations compared to individuals with inherited causes of CAKUT who were initiated on dialysis. Further studies are needed to understand barriers to transplantation access in this population.

Colonic duplication constitutes a rare congenital anomaly, characterized by the presence of hollow cystic or tubular structures exhibiting an epithelial-lined intestinal wall. Diagnostic challenges persist due to its low incidence and manifestation of nonspecific symptoms such as abdominal pain or constipation, resulting in a reluctance to pursue surgical resection. As associated malignancies in colonic duplication are rare, the inherent malignant potential of these anomalies remains undetermined. Additionally, despite reported instances of associated malignancies in colonic duplication, there is an absence of reports in the literature detailing tubular adenoma within these cases. The histologic features of the presented case are particularly noteworthy, situated at the precancerous stage, intimating potential progression towards adenocarcinoma within colonic duplication.

Objective This study aimed to describe the clinical features, associated extragenital anomalies, and management of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a Thai population. Methods This retrospective study analyzed the medical records of 96 patients with MRKH syndrome diagnosed and treated at a university hospital and tertiary referral center in southern Thailand between 2000 and 2022. Results The study included 96 patients with MRKH syndrome. The most common symptom was primary amenorrhea (88.5%), followed by difficulty or inability to engage in sexual intercourse (9.4%) and pelvic mass (2.1%). Notably, 80.3% of the patients did not have extragenital malformations and were diagnosed with MRKH type I (typical form), whereas 19.7% were categorized as MRKH type II (atypical form). Skeletal malformations were the most frequent extragenital anomalies and were present in 19.5% of patients, with scoliosis being the most common skeletal condition. Other extragenital malformations included renal (8.5%) and neurological (1.0%) abnormalities. Clinical vaginal examination revealed complete atresia in 21.8% and vaginal hypoplasia (median vaginal length, 3 cm) in 78.2% of the patients. Half of the patients did not receive treatment because they had not engaged in sexual intercourse. In this cohort, 41.7% of the patients had no difficulty performing sexual intercourse. Hence, self-dilation therapy or concomitant dilation was recommended. Only eight patients (8.3%) underwent surgical reconstruction of the vagina. Conclusion This study confirmed the complexity and heterogeneity of the phenotypic manifestations of MRKH, including the degree of vaginal atresia and types and rates of associated malformations.

Abstract Background Parotid gland agenesis is a rare, congenital, usually asymptomatic disorder. Until now, only 24 cases with unilateral, incidentally found, parotid gland agenesis have been described. Here, we present the first reported case of an ipsilateral preauricular neoplasm in a patient with unilateral parotid gland agenesis. During surgery, the position of the greater auricular- and facial nerves was documented. Furthermore, we performed the first sialendoscopy for this rare disorder to assess the number of duct branches, which might be indicative of the abundance of parotid tissue. Moreover, we looked for sialendoscopic characteristic features that could aid in identifying these patients in the ambulatory setting. Case presentation A 50-year-old Greek man presented with a painless, slowly enlarging mass in the right parotid space. Magnetic resonance imaging revealed a complete absence of the right parotid gland without accessory parotid tissue. The right parotid gland was replaced by fatty tissue and the radiologist suggested a benign parotid tumor. Fine needle aspiration was indicative of a reactive lymph node. Sialendoscopy revealed only two branches within the right parotid duct. Surgical resection was performed through a conventional lateral parotidectomy. This revealed typical anatomic position of the greater auricular- and facial nerves despite the parotid tissue agenesis. Histopathology revealed a small lymphocytic lymphoma. Conclusions Surgeons should feel confident to resect tumors of the parotid space in patients with parotid gland agenesis. Reduced branching observed during sialendoscopy might indicate parotid gland agenesis. Physicians should be even more cautious than usual with the watch and wait strategy in patients with tumors of parotid gland agenesis, since the probability of a tumor being a benign salivary gland tumor might be lower than usual.