Choledochal cyst is a congenital pathology with an uncommon anomaly associated with common complaints of an abdominal lump and hepatic dysfunction. It may be presented equally in any phase of life, be it childhood, adolescence, or adulthood, and is majorly detected by ultrasonography (USG) on the appearance of primary symptoms in the hepato-biliary system. It has a classical triad consisting of a lump in the upper quadrant on the right side of the abdomen, pain in the upper part of the abdomen, and obstructive jaundice. A few of the clinical features overlap with sickle cell disease. A 30-year-old male patient with sickle cell anemia was diagnosed eight years ago. The patient was diagnosed with a choledochal cyst with the clinical presentation of abdominal pain, nausea, and vomiting, which hampered his routine life. Due to symptomatic recurrence, the patient was subjected to USG (abdomen), which showed a dilated common bile duct (CBD) and dilated intrahepatic biliary radicals. This is a rare case presentation with both sickle cell disease and choledochal cyst, which are symptomatically similar. Based on history, risk factor analysis, and diagnostic findings, the patient was advised to have a Roux-en-Y hepatico-jejunostomy. Endoscopic retrograde cholangiopancreatography (ERCP) and magnetic resonance cholangiopancreatography (MRCP) are the investigations of choice, with the better being MRCP. ERCP is a therapeutic and diagnostic modality that helps in the removal of CBD calculus and the placement of a stent. There may be increased bilirubin, showing features of obstructive jaundice in alcoholic stools. In surgical management, which is of total excision of the cyst, there are vital structures in proximity. The patients with these complaints need to be evaluated thoroughly, and detailed clinical examination and proper radiological investigations will be performed. Roux-en-Y hepatico-jejunostomy with cyst excision in toto is the procedure of choice.

BACKGROUND: Brownfields consist of abandoned and disused sites, spanning many former purposes. Brownfields represent a heterogenous yet ubiquitous exposure for many Americans, which may contain hazardous wastes and represent urban blight. Neonates and pregnant individuals are often sensitive to subtle environmental exposures. We evaluate if residential exposure to lead (Pb) brownfields is associated with birth defects.
METHODS: Using North Carolina birth records from 2003 to 2015, we sampled 169,499 births within 10 km of a Pb brownfield with 3255 cardiovascular, central nervous, or external defects identified. Exposure was classified by binary specification of residing within 3 km of a Pb brownfield. We utilized multivariable logistic regression models adjusted for demographic covariates available from birth records and 2010 Census to estimate odds ratios (OR) and 95% confidence intervals (CI). Effect measure modification was assessed by inclusion of interaction terms and stratification for the potential modifiers of race/ethnicity and diabetes status.
RESULTS: We observed positive associations between cardiovascular birth defects and residential proximity to Pb brownfields, OR (95%CI): 1.15 (1.04, 1.26), with suggestive positive associations for central nervous 1.16 (0.91, 1.47) and external defects 1.19 (0.88, 1.59). We did observe evidence of effect measure modification via likelihood ratio tests (LRT) for race/ethnicity for central nervous and external defect groups (LRT p values 0.08 and 0.02). We did observe modification by diabetes status for the cardiovascular group (LRT p value 0.08).
CONCLUSIONS: Our results from this analysis indicate that residential proximity to Pb brownfields is associated with cardiovascular birth defects with suggestive associations for central nervous and external defects. In-depth analyses of individual defects and other contaminants or brownfield site functions may reveal additional novel associations.

Prioritizing lung-protective ventilation has produced a clear mortality benefit in neonates with congenital diaphragmatic hernia (CDH). While there is a paucity of CDH-specific evidence to support any particular approach to lung-protective ventilation, a growing body of data in adults is beginning to clarify the mechanisms behind ventilator-induced lung injury and inform safer management of mechanical ventilation in general. This review summarizes the adult data and attempts to relate the findings, conceptually, to the CDH population. Critical lessons from the adult studies are that much of the damage done during conventional mechanical ventilation affects normal lung tissue and that most of this damage occurs at the low-volume and high-volume extremes of the respiratory cycle. Consequently, it is important to prevent atelectasis by using sufficient positive end-expiratory pressure while also avoiding overdistention by scaling tidal volume to the amount of functional lung tissue rather than body weight. Paralysis early in acute respiratory distress syndrome improves outcomes, possibly because consistent respiratory mechanics facilitate avoidance of both atelectasis and overdistention-a mechanism that may also apply to the CDH population. Volume-targeted conventional modes may be advantageous in CDH, but determining optimal tidal volume is challenging. Both high-frequency oscillatory ventilation and high-frequency jet ventilation have been used successfully as \'rescue modes\' to avoid extracorporeal membrane oxygenation, and a prospective trial comparing the two high-frequency modalities as the primary ventilation strategy for CDH is underway.

BACKGROUND: Lack of data on the burden and scope of congenital disorders (CDs) in South Africa undermines resource allocation and limits the ability to detect signals from potentially teratogenic pregnancy exposures.
METHODS: We used routine electronic data in the Western Cape Pregnancy Exposure Registry (PER) to determine the overall and individual prevalence of CD identified on neonatal surface examination at birth in the Western Cape, South Africa, 2016-2022. CD was confirmed by record review. The contribution of late (≤24 months) and antenatal diagnoses was assessed. We compared demographic and obstetric characteristics between women with/without pregnancies affected by CD.
RESULTS: Women with a viable pregnancy (>22 weeks gestation; birth weight ≥ 500 g) (n = 32,494) were included. Of 1106 potential CD identified, 56.1% were confirmed on folder review. When internal and minor CD were excluded the prevalence of major CD identified on surface examination at birth was 7.2/1000 births. When missed/late diagnoses on examination (16.8%) and ultrasound (6.8%) were included, the prevalence was 9.2/1000 births: 8.9/1000 livebirths and 21.5/1000 stillbirths. The PER did not detect 21.5% of major CD visible at birth. Older maternal age and diabetes mellitus were associated with an increased prevalence of CD. Women living with/without HIV (or the timing of antiretroviral therapy, before/after conception), hypertension or obesity did not significantly affect prevalence of CD.
CONCLUSIONS: A surveillance system based on routine data successfully determined the prevalence of major CD identified on surface examination at birth at rates slightly higher than in equivalent studies. Overall rates, modeled at ~2%, are likely underestimated. Strengthening routine neonatal examination and clinical record-keeping could improve CD ascertainment.

In an era of rapidly expanding use of transcatheter aortic valve implantation (TAVI), the management of patients with bicuspid aortic valve (BAV) disease is far less well established than in those with trileaflet anatomy. Results of isolated surgical aortic valve replacement are excellent in suitable patients, and surgery also allows treatment of concomitant pathology of the aortic root and ascending aorta that is frequently encountered in this cohort. Conversely, TAVI provides an excellent alternative in older patients who may be unsuitable for surgery, although outcomes in BAV disease have only been reported in relatively small non-randomised series. Here, we discuss the pertinent literature on this topic and outline contemporary interventional treatment options in this challenging setting.

OBJECTIVE: The clinical implications of a postnatal chest X-ray (CXR) in asymptomatic children with a prenatally diagnosed congenital lung malformation (CLM) are uncertain. We assessed the justification for the postnatal use of CXR in these children.
METHODS: We included patients with CLM confirmed through chest computed tomography angiography or histopathological analysis who were asymptomatic at birth, underwent routine postnatal CXR, and participated in our standard of care prospective structured longitudinal follow-up program. Children with major associated morbidities were excluded. Primary outcomes were the positive and negative predictive values (PPV and NPV) of CXR findings for symptom development at 4 weeks and 6 months of age. Secondarily, we sought to establish whether CXR findings were associated with undergoing additional diagnostics during the initial observational hospital stay or prolonged postnatal hospital admission.
RESULTS: Among 121 included patients, CXR showed no abnormalities in 35 (29%), nonspecific abnormalities in 23 (19%), and probable CLM in 63 (52%). The PPV of CXR in relation to symptom development at 4 weeks and 6 months was 0.05 and 0.25, respectively. Corresponding NPVs were 0.96 and 0.91. An association was identified between CXR findings and undergoing further diagnostics during the initial observational hospital stay (p = .047). Additional diagnostic findings did not influence clinical management. CXR findings were not associated with prolonged initial hospital stay (p = .40).
CONCLUSIONS: The routine practice of postnatal CXR in asymptomatic patients with prenatally diagnosed CLM can be omitted, as CXR findings do not influence subsequent clinical management.

BACKGROUND: Omphalocele is a congenital midline abdominal wall defect resulting in herniation of viscera into a membrane-covered sac. Pulmonary complications, including pulmonary hypoplasia, pulmonary hypertension, and prolonged respiratory support are a leading cause of neonatal morbidity and mortality.
OBJECTIVE: This study aimed to assess the role of fetal MRI-derived lung volumes and omphalocele defect size as clinical tools to prognosticate postnatal pulmonary morbidity and neonatal mortality in those with a prenatally diagnosed omphalocele (PDO).
METHODS: This was a retrospective cohort study of all pregnancies with PDO at our fetal center from 2007-2023. Pregnancies with aneuploidy or concurrent life-limiting fetal anomalies were excluded. Using fetal MRI, observed-to-expected total fetal lung volume (O/E TLV) ratios were determined by a previously published method. The transverse diameter of the abdominal defect was also measured. The O/E TLV ratios and abdominal defect measurements were compared with postnatal outcomes. The primary outcome was death at any time. Secondary outcomes included death in the first 30 days of life or before discharge from birth hospitalization, the requirement of respiratory support with intubation and mechanical ventilation, or development of pulmonary hypertension.
RESULTS: Of 101 pregnancies with a PDO, 54 pregnancies (53.5%) with prenatally diagnosed omphalocele met inclusion criteria. There was a significant increase in the rate of death when compared between the three O/E TLV classifications: 1/36 (2.8%) in the O/E ≥ 50% group, 3/14 (21.4%) in the O/E 25 - 49.9% group, and 4/4 (100%) in the O/E < 25% group (p < 0.001). The rate of intubation increased with the severity of O/E TLV classification, with 27.8% in the O/E ≥ 50% group, 64.3% in the O/E 25 - 49.9% group, and 100% in the O/E < 25% group (p = 0.003). The rate of pulmonary hypertension was also higher in the O/E 25 - 49.9% (50.0%) and the O/E < 25% (50.0%) groups compared to the O/E ≥ 50% group (8.3%, p = 0.002). There was no association between the transverse diameter of the abdominal wall defect and the primary outcome of death (OR = 1.08 95% CI = [0.65-1.78], p=0.77).
CONCLUSIONS: In our cohort of patients with PDO, O/E TLV <50% is associated with death, need for intubation, prolonged intubation, and pulmonary hypertension. In contrast, omphalocele size demonstrated no prognostic value for these outcomes. The strong association between low fetal lung volume on MRI and poor neonatal outcomes highlights the utility of fetal MRI for estimating postnatal prognosis. Clinicians can utilize fetal lung volumes to direct perinatal counseling and optimize the plan of care.

BACKGROUND: Herlyn-Werner-Wunderlich syndrome , a rare Müllerian ducts congenital disease, is characterized by a diphtheritic uterus, blind hemivagina, and ipsilateral renal agenesis. Diagnosis is at young age by ultrasound and magnetic resonance imaging, and the prognosis is good. Usually, complications evolve endometriosis and secondary pelvic inflammation.
METHODS: A 40-year-old female patient, Brazilian, white, primigravida, diagnosed at 30 years with a didelphic uterus on ultrasound, and 4 years later, with a left ovarian endometrioma, multiple ovarian cysts, and left renal agenesis on magnetic resonance imaging. Subsequently, due to dyspareunia and a feeling of swelling, the patient underwent transvaginal ultrasound with bowel preparation, and a hematocolpos was found and Herlyn-Werner-Wunderlich syndrome was suspected; 10 years after the diagnosis she had a planned pregnancy. She presented frequent contractions following the 15th week of pregnancy and fortunately there were no complications or premature labor. Labor was inducted at 40 weeks and 6 days without progress and a cesarean section was indicated and performed without complications. Herlyn-Werner-Wunderlich syndrome often goes unnoticed, leading to inadequate treatment. Individuals with Herlyn-Werner-Wunderlich syndrome commonly face fertility issues, such as high miscarriage rate (21-33%), and obstetric complications, such as spontaneous abortions (40% risk), intrauterine growth restriction, postpartum hemorrhage, increased fetal mortality, preterm delivery (21-29%), and elevated rates of cesarean sections. In addition, there is higher susceptibility of developing endometriosis, especially with hemivaginal obstruction, and pelvic adhesions.
CONCLUSIONS: Early diagnosis enables timely treatment and, consequently, fewer complications. Still, when these factors are absent, vaginal birth may still be possible. The true prevalence and incidence of complications related to Herlyn-Werner-Wunderlich syndrome are still unknown.

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.
CONCLUSIONS: 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.

BACKGROUND: A significant proportion of major fetal structural anomalies can be detected in the first trimester by ultrasound examination. However, the test performance of the first-trimester anomaly scan (FTAS) performed in a low-risk population as part of a nationwide prenatal screening program is unknown. Potential benefits of the FTAS include early detection of fetal anomalies, providing parents with more time for reproductive decision-making.
OBJECTIVE: To investigate the uptake, test performance and time to a final prenatal diagnosis after referral.
METHODS: A nationwide implementation study was conducted in the Netherlands (November 2021-November 2022). The FTAS was performed between 12+3 and 14+3 weeks gestation by certified sonographers using a standard protocol. Women were referred to a tertiary care center if anomalies were suspected. Uptake, test performance and time to a final prenatal diagnosis (days between referral and date of final diagnosis/prognosis for reproductive decision-making) were determined. Test performance was calculated for first-trimester major congenital anomalies, such as anencephaly and holoprosencephaly and all diagnosed anomalies <24 weeks gestation.
RESULTS: The FTAS uptake was 74.9% (129 704/173 129). In 1.0% (1 313/129 704), an anomaly was suspected, of which 54.9% (n=721) had abnormal findings on the detailed first-trimester diagnostic scan and 44.6% (n=586) showed normal results. In 0.5% (n=6), intra-uterine fetal death occurred. In the total group of 721 cases with abnormal findings, 332 structural anomalies, 117 genetic anomalies, 82 other findings (abnormal fetal biometry, sonomarkers, placental/umbilical cord anomaly, an-/oligohydramnios) and 189 cases with transient findings (defined as ultrasound findings which resolved <24 weeks gestation) were found, with one case having an unknown outcome. 0.9% (n=1164) of all cases with a normal FTAS were diagnosed with a fetal anomaly in the second trimester. Test performance included a sensitivity of 84.6% (126/149) for first-trimester major congenital anomalies and 31.6% (537/1701) for all types of anomalies. Specificity for all anomalies was 99.2% (98 055/98 830); positive predictive value 40.9% (537/1 312); negative predictive value 98.8% (98 055/99 219); positive likelihood ratio 40.3; negative likelihood ratio 0.7; false positive rate 0.8% (775/98 830) and false negative rate 68.4% (1 164/1 701). The median time to diagnosis for structural anomalies was 20 days (6-43 days; median GA 16+3), for genetic anomalies 17 days (8.5-27.5 days; median GA 15+6 weeks) and for first-trimester major congenital anomalies 9 days (5-22 days; median GA 14+6 weeks).
CONCLUSIONS: The performance of a newly introduced nationwide FTAS in a low-risk population showed a high sensitivity for first-trimester major congenital anomalies and a lower sensitivity for all anomalies combined. The program was accompanied by a referral rate of 1.0%, of which 59.1% involved cases where anomalies were either not confirmed or resolved before 24 weeks gestation. Timing of diagnosis was around 16 weeks gestation for referred cases. To evaluate the balance between benefits and potential harm of the FTAS within a nationwide prenatal screening program, it is essential to assess the effectiveness of the program over time and to consider the perspectives of both women and their partners, as well as healthcare professionals.