Intralobar bronchopulmonary sequestration in an adult: a case report.

Introduction: Bronchopulmonary sequestration (BPS) is typically a rare congenital disorder characterized by the presence of non-functioning lung tissue. There are two types of BPS: intralobar and extralobar sequestration, where extralobar sequestration can either be intrathoracic or sub-diaphragmatic. Case presentation: In this case report, we present the case of a 70-year-old male with intralobar BPS who presented with recurrent chest infections, and a diagnosis of intralobar pulmonary sequestration was made based on a computed tomography (CT) scan. Discussion: The diagnosis of intralobar pulmonary sequestration can be delayed as the intralobar type can present with varying imaging findings. A diagnosis can be made based on CT or MRI findings. A CT scan or MRI can show mass or consolidation with or without a cyst. Both CT and MRI can be reliable modalities to identify the arterial supply of the sequestered lung tissue, which is commonly a branch of the descending aorta. Conclusion: Sequestration should be suspected when a posterobasal lung abnormality is supplied by an abnormal artery from the aorta or another systemic artery.

A complex case of univentricular heart with multiple congenital malformations diagnosed in a newborn: a case report and literature review.

Introduction: Univentricular heart disease is a relatively rare condition that affects infants, with a prevalence ranging from 0.05 to 0.1 per 1000 live births. It is characterized by an abnormality in the structure of the heart, specifically the presence of only one main pumping chamber (ventricle) instead of the usual two. Presentation of case: In this particular case, a newborn male was diagnosed with double-inlet left ventricle (DILV), a specific form of univentricular heart disease. Following his birth, he exhibited symptoms of central cyanosis (a bluish tint to the skin due to poor oxygenation) and difficulties with breastfeeding. Clinical evaluation, along with a heart ultrasound, confirmed the need for palliative surgery. At the age of 6 months, the patient is scheduled to undergo the Glenn procedure, a surgical intervention that aims to redirect blood flow to the lungs and improve oxygenation. Clinical discussion: Given the complexity of double-inlet single ventricle anomalies, there are multiple differential diagnoses that need to be considered for accurate diagnosis, including conditions such as tricuspid atresia, large ventricular septal defect and corrected transposition of the great arteries with ventricular septal defect. Conclusion: Early intervention in the immediate postnatal period plays a crucial role in improving survival rates and reducing long-term complications. It is, therefore, essential to continue researching and refining treatment approaches.

Pediatric Limb Asymmetry: A Unique Presentation of Angioosteohypertrophic Syndrome.

Parks-Weber syndrome (PWS), also known as Klippel-Trenaunay-Weber syndrome, is a rare congenital bone vascular syndrome first described in 1900. It is characterized by arteriovenous malformations in a limb, leading to disproportionate limb growth and potential heart failure. Unlike Klippel-Trenaunay syndrome, PWS manifests arteriovenous malformations with abnormal connections between the arteries and veins of the affected limb. The management of this syndrome, similar to that of Klippel-Trenaunay syndrome, relies mainly on symptomatic treatment. We report the first case of angioosteohypertrophic syndrome diagnosed at CHU Med VI Oujda, in a patient aged seven years and eight months. This syndrome manifested primarily in the right upper limb, characterized by asymmetry in both upper limbs, thermal disparity, a cutaneous nevus, and venous ectasia in the right arm. The diagnosis was further substantiated through arteriography, confirming the presence of an arteriovenous fistula.

Clinical impact of novel CMR technology on patients with congenital heart disease. A scientific statement of the Association for European Pediatric and Congenital Cardiology (AEPC) and the European Association of Cardiovascular Imaging (EACVI) of the ESC.

Cardiovascular magnetic resonance (CMR) imaging is recommended in patients with congenital heart disease (CHD) in clinical practice guidelines as the imaging standard for a large variety of diseases. As CMR is evolving, novel techniques are becoming available. Some of them are already used clinically, whereas others still need further evaluation. In this statement the authors give an overview of relevant new CMR techniques for the assessment of CHD. Studies with reference values for these new techniques are listed in the supplement.

A 24-Year-Old Male Patient With an Ostium Secundum Complex Atrial Defect Secondary to a Perforated Aneurysm With Inferior Vena Cava Agenesis.

The article describes a successful clinical outcome in the case of a 24-year-old male with a diagnosis of an ostium secundum atrial defect secondary to a perforated aneurysm associated with vena cava agenesis. During hospitalization, an echocardiogram revealed the presence of ostium secundum inter-atrial communication with a left to right shunt, a left ventricular ejection fraction (LVEF) of 60%, and mild pulmonary hypertension, measured at 40 mmHg. CT imaging showed anomalous dilation of the azygos vein (16.8 mm), associated with interruption of the vena cava in the intrahepatic and adrenal portion, continuing through the azygos system and draining into the superior vena cava. Open-heart surgery was performed with pericardium patch placement on the defect. Postoperative transthoracic echocardiography revealed a tracking of the interatrial septum, with adequate placement of the surgical patch and no evidence of residual short circuits. The postoperative recovery was favorable, and the patient was discharged five days after surgery. Outpatient monitoring at the first and third months showed no complications during physical examination and echocardiogram imaging.

A Case Report of a Filipino Boy with Childhood Cataract and Clinically Diagnosed Roberts Syndrome.

Childhood cataract is a common cause of visual impairment. Familial types are uncommon among Filipinos. Furthermore, it is not common to have one that follows an autosomal dominant pattern of inheritance but with associated syndromic presentation like Roberts syndrome which is an autosomal recessive disorder. This is a case of a 9-year-old Filipino boy with cataract in the left eye associated with low-set ears, facial asymmetry, underdeveloped nasal ala, cleft lip and palate, macroglossia, micrognathia, short right shin, and absent feet. Patient was clinically diagnosed with Roberts syndrome. We present a clinically diagnosed Roberts syndrome (RS), the first reported RS in a Filipino in local and international literature to our knowledge with an autosomal dominant childhood cataract. Genetic testing can assist in the confirmation of this case.

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.

Background: Congenital myopathies (CMs) are a diverse group of inherited muscle disorders with broad genotypic and phenotypic heterogeneity. While the literature on CM is available from European countries, comprehensive data from the Indian subcontinent is lacking. Objectives: This study aims to describe the clinical and histopathological characteristics of a cohort of genetically confirmed CMs from India and attempts to do phenotype-genotype correlation. Methods: A retrospective chart review of genetically confirmed CMs was evaluated between January 2016 and December 2020 at the neuromuscular clinic. The clinical, genetic, and follow-up data were recorded in a pre-structured proforma as per the medical records, and the data was analyzed. Results: A total of 31(M: F = 14 : 17) unrelated patients were included. The median age at onset and duration of illness are 2.0(IQR:1-8) years and 6.0(IQR:3-10) years respectively. Clinical features observed were proximodistal weakness (54.8%), facial weakness (64.5%), and myopathic facies (54.8%), followed by ptosis (33.3%), and ophthalmoplegia (19.4%). Muscle histopathology was available in 38.7% of patients, and centronuclear myopathy was the most common histopathology finding. The pathogenic genetic variants were identified in RYR1 (29.0%), DNM2 (19.4%), SELENON (12.9%), KBTBD13 (9.7%), NEB (6.5%), and MYPN (6.5%) genes. Novel mutations were observed in 30.3% of the cohort. Follow-up details were available in 77.4% of children, and the median duration of follow-up and age at last follow-up was 4.5 (Range 0.5-11) years and 13 (Range 3-35) years, respectively. The majority were ambulant with minimal assistance at the last follow-up. Mortality was noted in 8.3% due to respiratory failure in Centronuclear myopathy 1 and congenital myopathy 3 with rigid spines (SELENON). Conclusion: This study highlights the various phenotypes and patterns of genetic mutations in a cohort of pediatric patients with congenital myopathy from India. Centronuclear myopathy was the most common histological classification and the mutations in RYR1 followed by DNM2 gene were the common pathogenic variants identified. The majority were independent in their activities of daily living during the last follow-up, highlighting the fact that the disease has slow progression irrespective of the genotype.

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) is a rare genetic disorder caused by biallelic variants in the PGM1 gene, leading to the deficiency of the PGM1 enzyme. The most common clinical presentations include muscle involvement, failure to thrive, cleft palate, and cardiac involvement. Abnormal serum N-glycosylation, hypoglycemia, and liver function abnormalities including coagulation abnormalities are the most common laboratory abnormalities. While PGM1-CDG has been extensively studied, little is known about the extent of the coagulation abnormalities in individuals with PGM1-CDG. Unlike most CDG, some symptoms of PGM1-CDG are treatable with D-galactose (D-gal) supplementation, though reliable clinical endpoints are necessary to appropriately evaluate the potential improvement with D-gal in PGM1-CDG. Here, we aimed to describe the incidence of coagulation abnormalities in PGM1-CDG and their evolution, their relation to clinical events, and the ability of D-gal treatment to improve them. A retrospective analysis was conducted on 73 reported individuals. All individuals had a molecularly confirmed PGM1-CDG diagnosis. All incidences of antithrombin (AT), aPTT, PT, factor (F) XI, FX, FIX, FVII, protein C and protein S data and major clinical events related to coagulation abnormalities, were collected. Coagulation information was available for only 58.9 % of the reported individuals, out of which 67.4 % of PGM1-CDG individuals were reported to have abnormalities. The most frequently observed abnormality was AT (mean: 30.8% R:80-120 %) deficiency. Four individuals had major thrombotic events. Coagulation status on D-gal treatment, were reported in 19 individuals. Several factors showed improvement including AT (mean: 64.5 %), indicating galactose is beneficial in treating coagulation abnormalities in PGM1-CDG. Due to the scarcity of the reported data on coagulation parameters, we also evaluated data collected in sixteen PGM1-CDG individuals enrolled in the FCDGC Natural History Study. Longitudinal data showed improvements in several coagulant parameters and disease severity improved for almost all patients of whom we had multiple datapoints on D-gal. AT showed significant improvement on D-gal. We conclude that coagulation abnormalities are frequently present in PGM1-CDG and show improvement on D-gal. We recommend coagulation parameters should be routinely checked in individuals with PGM1-CDG or suspected of having PGM1-CDG. Finally, AT may be used as a primary or secondary clinical endpoint for upcoming clinical trials in PGM1-CDG individuals.

Gastro-oesophageal reflux: rare presentation of Sotos syndrome in a neonate.

Sotos syndrome is a disorder characterised by distinctive facial features, excessive growth during childhood and intellectual disability. While these criteria apply to children and adults, they fall short when applied to neonates. Hyperbilirubinaemia, large for gestational age, hypotonia and seizures, along with cardiac and renal anomalies, are known to be common presentations in neonates. Reports have also added hyperinsulinaemic hypoglycaemia as a presenting feature of Sotos syndrome in neonates. Here, we report a case of Sotos syndrome in a neonate who presented in the neonatal period with recurrent apnoeic episodes with hypotonia, which were later attributed to severe gastro-oesophageal reflux.

Serious Concern of Congenital Zika Syndrome (CZS) in India: A Narrative Review.

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.

Polyorchidism in a young Sprague-Dawley rat.

Duplicate testes lined in series were observed in the right scrotum of a 6-week-old Sprague-Dawley rat in a single-dose toxicity study. Of the two right testicles, one was spherical and less than half the size of a normal testis. The other was oval-shaped, slightly smaller than a normal testis, and possessed clear, tortuous blood vessels similar to those of a normal testis. Each right testis was grossly separated but faced the intertesticular adipose tissue and was sparsely joined by thin cord-like structures. Only one epididymis covered or encompassed the two right testes. The caput epididymis was attached to the smaller spherical testis, whereas the cauda epididymis was attached to the oval testis. Histopathological examination revealed that the smaller spherical testis on the right side and the testis on the left side were normal. The oval-shaped testis on the right exhibited markedly dilated degenerative seminiferous tubules with one to two layers of Sertoli or germ cells, and almost no spermatogenesis was observed. Multinucleated germ cells were observed in the lumen of the degenerated seminiferous tubules. The right epididymis was morphologically normal and contained few sperm in the epididymal duct of the tail. The cord-like structures between duplicate testes comprised fibrous and adipose tissues. Single efferent ductules, ectopic cartilage, and skeletal muscle tissues were buried in the adipose tissue. To our knowledge, this is the first report of spontaneous polyorchidism in a rodent.

Lissencephaly and Advanced-Stage Congenital Cytomegalovirus Infection in a Neonate.

This case report investigates the management of a 24-week-old neonate with congenital cytomegalovirus (CMV) infection and its sequelae, including severe intrauterine growth restriction, thrombocytopenia, and brain anomalies, ultimately progressing to lissencephaly. The diagnostic challenges included delayed clinical suspicion of congenital CMV, which was not identified until after delivery through CMV DNA polymerase chain reaction, and differentiating its symptoms from other potential causes of the neonate's condition. Aggressive interventions included antibiotics, antiviral therapy with ganciclovir, and supportive measures such as intubation, CPR, respiratory support, blood transfusions, and management of coagulopathy. Despite these efforts, the patient deteriorated due to progressive hypoperfusion, hypoxemic cardiorespiratory failure, and disseminated intravascular coagulopathy. Due to the poor prognosis and extent of multiorgan damage, support was withdrawn per parental consent. This case highlights the complications encountered when managing an advanced-stage neonatal CMV infection and emphasizes the importance of a multidisciplinary and holistic approach to guide diagnosis and treatment.

Coronary Cameral Fistula: A Rare Case Presenting With Non-ST-Segment Elevation Myocardial Infarction and Pulmonary Arterial Hypertension.

Coronary cameral fistulas (CCFs) are uncommon congenital or acquired anomalies characterized by abnormal connections between a coronary artery and a cardiac chamber. While often asymptomatic and incidentally detected, symptomatic presentations are rare, and symptoms may vary depending on the size and location of the fistula. We present the case of a 67-year-old female with complaints of intermittent typical cardiac chest pain and exertional dyspnea. Further evaluation revealed a CCF originating from the left anterior descending coronary artery and the left ventricle. Additionally, the patient was found to have pulmonary hypertension on right heart catheterization. This case highlights the importance of considering CCF in the differential diagnosis of chest pain, particularly in the presence of atypical symptoms and associated pulmonary hypertension (WHO Group 4). Further research is warranted to elucidate the optimal management strategies for symptomatic CCF, especially in cases complicated by pulmonary hypertension.

Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.

BACKGROUND: Congenital myasthenic syndromes (CMS) are a group of genetic disorders characterized by impaired neuromuscular transmission. CMS typically present at a young age with fatigable muscle weakness, often with an abnormal response after repetitive nerve stimulation (RNS). Pharmacologic treatment can improve symptoms, depending on the underlying defect. Prevalence is likely underestimated. This study reports on patients with CMS followed in Belgium in 2022. METHODS: Data were gathered retrospectively from the medical charts. Only likely pathogenic and pathogenic variants were included in the analysis. RESULTS: We identified 37 patients, resulting in an estimated prevalence of 3.19 per 1,000,000. The patients harbored pathogenic variants in CHRNE, RAPSN, DOK7, PREPL, CHRNB1, CHRNG, COLQ, MUSK, CHRND, GFPT1, and GMPPB. CHRNE was the most commonly affected gene. Most patients showed disease onset at birth, during infancy, or during childhood. Symptom onset was at adult age in seven patients, caused by variants in CHRNE, DOK7, MUSK, CHRND, and GMPPB. Severity and distribution of weakness varied, as did the presence of respiratory involvement, feeding problems, and extraneuromuscular manifestations. RNS was performed in 23 patients of whom 18 demonstrated a pathologic decrement. Most treatment responses were predictable based on the genotype. CONCLUSIONS: This is the first pooled characterization of patients with CMS in Belgium. We broaden the phenotypical spectrum of pathogenic variants in CHRNE with adult-onset CMS. Systematically documenting larger cohorts of patients with CMS can aid in better clinical characterization and earlier recognition of this rare disease. We emphasize the importance of establishing a molecular genetic diagnosis to tailor treatment choices.

The importance of the 'uterine factor' in recurrent pregnancy loss: a retrospective cohort study on women screened through 3D transvaginal ultrasound.

STUDY QUESTION: What is the prevalence of congenital and acquired anomalies of the uterus in women with recurrent pregnancy loss (RPL) of unknown etiology examined using 3D transvaginal ultrasound (US)? SUMMARY ANSWER: Depending on the adopted diagnostic criteria, the prevalence of partial septate uterus varies between 7% and 14% and a T-shaped uterus is 3% or 4%, while adenomyosis is 23%, at least one of type 0, type 1 or type 2 myoma is 4%, and at least one endometrial polyp is 4%. WHAT IS KNOWN ALREADY: ESHRE and the Royal College of Obstetricians and Gynaecologists guidelines on RPL recommend the adoption of the 3D transvaginal US to evaluate the 'uterine factor'. Nevertheless, there are no published studies reporting the prevalence of both congenital and acquired uterine anomalies as assessed by 3D transvaginal US and diagnosed according to the criteria proposed by the most authoritative panels of experts in a cohort of women with RPL. STUDY DESIGN, SIZE, DURATION: This was a retrospective cohort study including 442 women with at least two previous first-trimester spontaneous pregnancy losses (i.e. non-viable intrauterine pregnancies), who referred to the obstetrics and gynecology unit of two university hospitals between July 2020 and July 2023. PARTICIPANTS/MATERIALS, SETTING, METHODS: Records of eligible women were reviewed. Women could be included in the study if: they were between 25 and 42 years old; they had no relevant comorbidities; they were not affected by infertility, and they had never undergone ART; they and their partner tested negative to a comprehensive RPL diagnostic work-up; and they had never undergone metroplasty, myomectomy, minimally invasive treatments for uterine fibroids or adenomyomectomy. Expert sonographers independently re-analyzed the stored 2- and 3D transvaginal US images of all included patients. Congenital uterine anomalies (CUAs) were reported according to the American Society for Reproductive Medicine (ASRM) 2021, the ESHRE/European Society for Gynaecological Endoscopy (ESGE) and the Congenital Uterine Malformation by Experts (CUME) criteria. Acquired uterine anomalies were reported according to the International Federation of Gynecology and Obstetrics (FIGO) and the Morphological Uterus Sonographic Assessment (MUSA) criteria. MAIN RESULTS AND THE ROLE OF CHANCE: The partial septate uterus was diagnosed in 60 (14%; 95% CI: 11-17%), 29 (7%; 95% CI: 5-9%), and 47 (11%; 95% CI: 8-14%) subjects, according to the ESHRE/ESGE, the ASRM 2021, and the CUME criteria, respectively. The T-shaped uterus was diagnosed in 19 women (4%; 95% CI: 3-7%) according to the ESHRE/ESGE criteria and in 13 women (3%; 95% CI: 2-5%) according to the CUME criteria. The borderline T-shaped uterus (diagnosed when two out of three CUME criteria for T-shaped uterus were met) was observed in 16 women (4%; 95% CI: 2-6%). At least one of FIGO type 0, type 1, or type 2 myoma was detected in 4% of included subjects (95% CI: 3-6%). Adenomyosis was detected in 100 women (23%; 95% CI: 19-27%) and was significantly more prevalent in women with primary RPL and in those with three or more pregnancy losses. At least one endometrial polyp was detected in 4% of enrolled women (95% CI: 3-7%). LIMITATIONS, REASONS FOR CAUTION: The absence of a control group prevented us from investigating the presence of an association between both congenital and acquired uterine anomalies and RPL. Second, the presence as well as the absence of both congenital and acquired uterine anomalies detected by 3D US was not confirmed by hysteroscopy. Finally, the results of the present study inevitably suffer from the intrinsic limitations of the adopted classification systems. WIDER IMPLICATIONS OF THE FINDINGS: The prevalence of CUAs in women with RPL varies depending on the classification system used. For reasons of clarity, the US reports should always state the name of the uterine anomaly as well as the adopted classification and diagnostic criteria. Adenomyosis seems to be associated with more severe forms of RPL. The prevalence rates estimated by our study as well as the replicability of the adopted diagnostic criteria provide a basis for the design and sample size calculation of prospective studies. STUDY FUNDING/COMPETING INTEREST(S): No specific funding was used. The authors have no conflicts of interest to declare. TRIAL REGISTRATION NUMBER: N/A.

Critical Event Checklists for Simulated In-Hospital Dysrhythmias in Children with Heart Disease.

Children with heart disease are at increased risk of unstable dysrhythmias and in-hospital cardiac arrest (IHCA). Clinician adherence to lifesaving processes of care is an important contributor to improving patient outcomes. This study evaluated whether critical event checklists improve adherence to lifesaving processes during simulated acute events secondary to unstable dysrhythmias. A randomized controlled trial was conducted in a cardiac ward in a tertiary care, academic children's hospital. Unannounced simulated emergencies involving dysrhythmias in pediatric patients with underlying cardiac disease were conducted weekly. Responders were pediatric and anesthesiology residents, respiratory therapists, and bedside registered nurses. Six teams were randomized into two groups-three received checklists (intervention) and three did not (control). Each team participated in four simulated scenarios over a 4-week pediatric cardiology rotation. Participants received a brief slideshow presentation, which included a checklist orientation, at the start of their rotation. Simulations were video and audio recorded and those with three or more participants were included for analysis. The primary outcome was team adherence to lifesaving processes, expressed as the percentage of completed critical management steps. Secondary outcomes included participant perceptions of the checklist usefulness in identifying and managing dysrhythmias. We used generalized estimating equations (GEE) models, which accounted for clustering within groups, to evaluate the effects of the intervention. A total of 24 simulations were conducted; one of the 24 simulations was excluded due to an insufficient number of participants. In our GEE analysis, 81.21% (78.96%, 83.47%) of critical steps were completed with checklists available versus 68.06% (59.38%, 76.74%) without checklists (p = 0.004). Ninety-three percent of study participants reported that they would use the checklists during an unstable dysrhythmia of a child with underlying cardiac disease. Checklists were associated with improved adherence to lifesaving processes during simulated resuscitations for unstable pediatric dysrhythmias. These findings support the use of scenario specific checklists for the management of unstable dysrhythmias in simulations involving pediatric patients with underlying cardiac disease. Future studies should investigate whether checklists are as effective in actual pediatric in-hospital emergencies.

Rescue of expression and function of long QT syndrome-causing mutant hERG channels by enhancing channel stability in the plasma membrane.

The human ether-g-go-go-related gene (hERG) encodes the Kv11.1 (or hERG) channel that conducts the rapidly activating delayed rectifier potassium current (IKr). Naturally occurring mutations in hERG impair the channel function and cause long QT syndrome type 2 (LQT2). Many missense hERG mutations lead to a lack of channel expression on the cell surface, representing a major mechanism for the loss-of-function of mutant channels. While it is generally thought that a trafficking defect underlies the lack of channel expression on the cell surface, in the present study, we demonstrate that the trafficking defective mutant hERG G601S can reach the plasma membrane but is unstable and quickly degrades, which is akin to Wild Type (WT) hERG channels under low K+ conditions. We previously showed that Serine (S) residue at 624 in the innermost position of the selectivity filter of hERG is involved in hERG membrane stability such that substitution of Serine 624 with Threonine (S624T) enhances hERG stability and renders hERG insensitive to low K+ culture. Here, we report that the intragenic addition of S624T substitution to trafficking defective hERG mutants G601S, N470D and P596R led to a complete rescue of the function of these otherwise loss-of-function mutant channels to a level similar to the WT channel, representing the most effective rescue means for the function of mutant hERG channels. These findings not only provide novel insights into hERG mutation-mediated channel dysfunction, but also point to the critical role of S624 in hERG stability on the plasma membrane.

Double Aortic Arch: A Comparison of Fetal CMR, Postnatal CT and Surgical Findings.

BACKGROUND: In double aortic arch (DAA) one of the arches can demonstrate atretic portions postnatally, leading to diagnostic uncertainty due to overlap with isolated right aortic arch (RAA) variants. The main objective of this study is to demonstrate the morphological evolution of different DAA phenotypes from prenatal to postnatal life using 3D fetal cardiac magnetic resonance imaging (CMR) and postnatal CT/CMR imaging. METHODS: 3D fetal CMR was undertaken in fetuses with suspected DAA over a six-year period (Jan 2016 - Jan 2022). All cases with surgical confirmation of DAA were retrospectively studied and morphology on fetal CMR was compared to postnatal CT/CMR and surgical findings. RESULTS: 32 fetuses with surgically confirmed DAA underwent fetal CMR. All demonstrated a complete DAA with left-sided arterial duct. The RAA was dominant in 30/32 (94%). Postnatal CT/CMR was undertaken at median age of 3.3months (IQR 2.0-3.9) demonstrating DAA with patency of both arches in 9/32 (28%), with 6 showing signs of coarctation of the left aortic arch (LAA). The LAA isthmus was not present on CT/CMR in 22/32(69%), the transverse arch between left carotid and left subclavian artery was not present in 1 case. CONCLUSIONS: Fetal CMR provides novel insights into perinatal evolution of DAA. The smaller LAA can develop coarctation or atresia related to postnatal constriction of the arterial duct, making diagnosis of DAA challenging with contrast-enhanced CT/CMR. This highlights the potentially important role for prenatal 3D vascular imaging and might improve intepretation of postnatal imaging.

Rubella immunity among pregnant women and the burden of congenital rubella syndrome (CRS) in India, 2022.

BACKGROUND: India aims to eliminate rubella and congenital rubella syndrome (CRS) by 2023. We conducted serosurveys among pregnant women to monitor the trend of rubella immunity and estimate the CRS burden in India following a nationwide measles and rubella vaccination campaign. METHODS: We surveyed pregnant women at 13 sentinel sites across India from Aug to Oct 2022 to estimate seroprevalence of rubella IgG antibodies. Using age-specific seroprevalence data from serosurveys conducted during 2017/2019 (prior to and during the vaccination campaign) and 2022 surveys (after the vaccination campaign), we developed force of infection (FOI) models and estimated incidence and burden of CRS. RESULTS: In 2022, rubella seroprevalence was 85.2% (95% CI: 84.0, 86.2). Among 10 sites which participated in both rounds of serosurveys, the seroprevalence was not different between the two periods (pooled prevalence during 2017/2019: 83.5%, 95% CI: 82.1, 84.8; prevalence during 2022: 85.1%, 95% CI: 83.8, 86.3). The estimated annual incidence of CRS during 2017/2019 in India was 218.3 (95% CI: 209.7, 226.5) per 100, 000 livebirths, resulting in 47,120 (95% CI: 45,260, 48,875) cases of CRS every year. After measles-rubella (MR) vaccination campaign, the estimated incidence of CRS declined to 5.3 (95% CI: 0, 21.2) per 100,000 livebirths, resulting in 1141 (95% CI: 0, 4,569) cases of CRS during the post MR-vaccination campaign period. CONCLUSION: The incidence of CRS in India has substantially decreased following the nationwide MR vaccination campaign. About 15% of women in childbearing age in India lack immunity to rubella and hence susceptible to rubella infection. Since there are no routine rubella vaccination opportunities for this age group under the national immunization program, it is imperative to maintain high rates of rubella vaccination among children to prevent rubella virus exposure among women of childbearing age susceptible for rubella.