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BackgroundEarly pregnancy renal anhydramanios (EPRA) occurs when the fetus is anuric before 22 weeks gestational age (GA) and is considered universally lethal. Serial amnioinfusions have successfully ameliorated the lethal pulmonary hypoplasia associated with EPRA and have resulted in cases of neonatal survival, peritoneal dialysis, and renal transplant.ObjectiveWe sought to evaluate the lung pathology of untreated fetuses and neonates that had EPRA.Study designThis is a retrospective case series of all fetuses and neonates diagnosed with isolated EPRA that underwent autopsy at a single tertiary care center between 1987 and 2018. Autopsy data were correlated with ultrasound findings and GA at delivery. Fetal weights, lung weights, and lung developmental stage were recorded.ResultsNineteen cases met criteria for analysis and ranged from 16 to 38 weeks GA at termination or birth. The observed-to-expected (O/E) lung-to-body-weight ratio was significantly associated with GA (r = −0.51, p = 0.03), such that as GA increased the O/E ratio decreased. When limited to patients >22 weeks, this relationship strengthened (r = −0.75, p = 0.01). Importantly, overall O/E body weight had no relationship with GA.ConclusionThis study shows that the degree of pulmonary hypoplasia in EPRA increases with the length of anhydramnios. This suggests that amnioinfusions are likely to be of most benefit the soonest they can feasibly be initiated.

IntroductionPrenatal ultrasounds often yield indeterminate (incomplete or minor abnormality) findings with limited clinical utility. We evaluate impact of indeterminate findings on maternal anxiety.MethodsA single-U.S.-center prospective cohort study administered the Perinatal Anxiety Screening Scale (PASS; control mean = 13.4; > 20 denotes clinically significant anxiety) before and after prenatal ultrasounds in February-May 2017. Ultrasound reports were coded as: normal; indeterminate; or major abnormality. Primary outcome was anxiety after indeterminate vs. normal ultrasounds. Secondary outcomes included anxiety change from pre-to-post-ultrasound and relative to women’s characteristics. Linear regression adjusted for confounders.ResultsOf 286 ultrasounds, 51.0% were normal, 40.5% indeterminate (22.0% incomplete; 18.5% minor abnormality), and 8.0% major abnormalities. Indeterminate findings were unrelated to age, race, parity, infertility, or psychiatric history, but associated with gestational age (26.6%/45.0%/52.5% for first/second/third trimesters; p < 0.001), and obesity (48.8 vs. 37.0%; p = 0.031). Pretest anxiety was highest in second/third trimesters (p = 0.029), and in subjects aged age ≤ 24 or younger(p < 0.001), with a history of anxiety (p < 0.001),) or with prior pregnancy loss (p = 0.011). Mean anxiety score decreased pre-to-posttest across all groups. Indeterminate findings were associated with higher PASS scores than normal findings: pretest 20.1 vs. 16.4 (p = 0.026) and posttest 16.9 vs. 12.2 (p = 0.009; adjusted-p = 0.01). Versus normal ultrasounds, incomplete findings were associated with higher post-ultrasound anxiety (p = 0.007; adjusted-p = 0.01) and smaller decreases from pre-to-posttest (adjusted-p = 0.03), whereas minor abnormalities had higher pretest anxiety (p = 0.029) with larger pre-to-posttest decreases (adjusted-p =0.010).DiscussionIndeterminate ultrasounds, especially incomplete findings, are associated with significantly higher anxiety than normal findings, suggesting need for evidence-based counseling, management and strategies for decreasing number of indeterminate results.

To evaluate delivery management and outcomes in fetuses prenatally diagnosed with CHD. A retrospective cohort study was conducted on 6194 fetuses (born between 2013 and 2016), comparing prenatally diagnosed with CHD (170) to those with non-cardiac (234) and no anomalies (5790). Primary outcomes included the incidence of preterm delivery and mode of delivery. Gestational age at delivery was significantly lower between the CHD and non-anomalous cohorts (38.6 and 39.1 weeks, respectively). Neonates with CHD had a significantly lower birth weights (p < 0.001). There was an approximately 1.5-fold increase in the rate of primary cesarean sections associated with prenatally diagnosed CHD with an odds ratio of 1.49 (95% CI 1.06-2.10). Our study provides additional evidence that the prenatal diagnosis of CHD is associated with a lower birth weight, preterm delivery, and with an increased risk of delivery by primary cesarean section.

Anhydramnios secondary to anuria before 22 weeks of gestational age and congenital bilateral renal agenesis before 26 weeks of gestational age are collectively referred to as early-pregnancy renal anhydramnios. Early-pregnancy renal anhydramnios occurs in at least 1 in 2000 pregnancies and is considered universally fatal when left untreated because of severe pulmonary hypoplasia precluding ex utero survival The Renal Anhydramnios Fetal Therapy (RAFT) trial is a nonrandomized, nonblinded, multicenter clinical trial designed to assess the efficacy, safety, and feasibility of amnioinfusions for patients with pregnancies complicated by early-pregnancy renal anhydramnios. The primary objective of this study is to determine the proportion of neonates surviving to successful dialysis, defined as use of a dialysis catheter for ≥14 days. A consortium of 9 North American Fetal Therapy Network (NAFTNet) centers was formed, and the RAFT protocol was refined in collaboration with the NAFTNet Scientific Committee. Enrollment in the trial began in April 2020. Participants may elect to receive amnioinfusions or to join the nonintervention observational expectant management group. Eligible pregnant women must be at least 18 years of age with a fetal diagnosis of isolated early-pregnancy renal anhydramnios. In addition to the primary study objective stated above, secondary objectives include (1) to assess maternal safety and feasibility of the serial amnioinfusion intervention (2) to perform an exploratory study of the natural history of untreated early pregnancy renal anhydramnios (3) to examine correlations between prenatal imaging and lung specific factors in amniotic fluid as predictive of the efficacy of serial percutaneous amnioinfusions and (4) to determine short- and long-term outcomes and quality of life in surviving neonates and families enrolled in RAFT The RAFT trial is the first clinical trial to investigate the efficacy, safety, and feasibility of amnioinfusions to treat the survival-limiting pulmonary hypoplasia associated with anhydramnios. Although the intervention offers an opportunity to treat a condition known to be almost universally fatal in affected neonates, the potential burdens associated with end-stage kidney disease from birth must be acknowledged. ClinicalTrials.gov identifier: NCT03101891.

BackgroundBlunt impact-induced traumatic abdominal wall hernia (TAWH) is an uncommon pediatric surgical problem classically associated with handlebar injury but increasingly seen with seatbelt use in motor vehicle collisions (MVC). Herein we describe the largest case series of pediatric TAWH to date and review the literature to establish the unique syndromic characteristics of MVC-associated TAWH.MethodsIn this single-institution series, we discuss four pediatric patients, all with seatbelt-associated TAWH after high-speed MVC characterized by full-thickness disruption of the lateral abdominal wall. We then performed a review of the literature to identify additional pediatric MVC-associated TAWH and define the characteristics of patients who sustained this unique injury.ResultsIn addition to the four patients in our case series, five additional pediatric patients presenting with TAWH after restrained MVC were identified in the literature. Of these nine patients, eight (89%) presented with an obvious seatbelt sign (bruising/laceration to the abdominal wall). Six (67%) had associated injuries typical of the seatbelt syndrome, including four spinal flexion injuries (44%) and five bowel injuries requiring repair or resection (56%). Overall, 56% of seatbelt-associated TAWH occurred in children with a BMI percentile > 95%.ConclusionsIn this case series and literature review, we note a high rate of seatbelt syndrome injuries in pediatric patients presenting with TAWH after restrained MVC. Suspicion for TAWH should be high in children presenting with a seatbelt sign and should trigger a low threshold for pursuing additional axial imaging.Level of evidenceLevel IV; case series.

Skeletal dysplasias represent a large and diverse group of rare conditions affecting collagen and bone. They can be clinically classified based on radiographic and physical features, and many can be further defined at a molecular level (Bonafe et al., 2015). Early diagnosis is critical to proper medical management including pharmacologic treatment when available. Patients with severe skeletal dysplasias often have small chests with respiratory insufficiency or airway obstruction and require immediate intubation after birth. Thereafter a variety of orthopedic, neurosurgical, pulmonary, otolaryngology interventions may be needed. In terms of definitive treatment for skeletal dysplasias, there are few pharmacotherapeutic options available for the majority of these conditions. We sought to describe therapies that are currently available or under investigation for skeletal dysplasias.

Acute appendicitis is one of the most common causes of abdominal pain in children but remains a diagnostic challenge, and insight into the aetiology of the condition is lacking. A case of simultaneous acute appendicitis in monozygotic twin boys is reported here. Familial aggregation in acute appendicitis has been described, but the underlying causes for this are not well understood. The patients reported here were both genetically identical and lived a mostly identical lifestyle. Their simultaneous presentation would be exceedingly rare if explained entirely by chance, suggesting a role for both genetic and environmental influences. Increased knowledge of this occurrence may assist in prompt diagnosis and reporting on the incidence and timing of appendicitis in monozygotic twins could better elucidate the genetic and environmental factors that predispose to this disease.

Background The appropriate management of biliary tract disease during pregnancy is uncertain. Although laparoscopic cholecystectomy can be performed safely during pregnancy, the timing and indications for this surgical intervention have not been firmly established. Methods We constructed a Markov decision analytic model that incorporates maternal well-being and fetal outcome into a choice between nonoperative management (NM) and laparoscopic cholecystectomy (LC) for pregnant women with biliary tract disease (BTD). Our model cycles through weeks of pregnancy for a cohort of 200 gravid women presenting with biliary tract disease in both the first and second trimesters. Weekly state probabilities and utilities for fetal outcome were derived from the literature, while weekly utilities for disease and operative states were estimated in consultation with obstetricians. We cycled the model from 6 to 42 weeks and from 19 to 42 weeks to simulate first and second trimester presentations. Outcomes are expressed in quality pregnancy weeks (QPWs). One QPW is the utility of a normal healthy week of pregnancy. Results A comprehensive search of the literature yielded a fetal death rate following LC for biliary tract disease of 2.2% and following NM of 7%. Relapse rates were found to be trimester dependent and estimated to be 55%, 55%, and 40% in the first, second, and third trimester, respectively. For a hypothetical cohort of 100 women presenting with biliary tract disease in their first trimester, LC generated 12,800 QPWs compared with 12,400 QPWs for NM, an average gain of 4 QPWs per woman. For the cohort of women entering the model in the second trimester, 11,600 QPWs were accrued by the LC group and 11,400 QPWs by the NM group, an average gain of 2 QPWs per woman. These findings were sensitive only to changes in fetal death rates under the two treatment arms. Conclusions Laparoscopic cholecystectomy is superior to nonoperative management for pregnant women presenting in the first or second trimester with biliary tract disease.

IntroductionAcute Flaccid Myelitis (AFM) is a recently recognized, polio-like illness of children that can be functionally devastating. Severe cases can lead to ventilatory failure. Incomplete phrenic nerve injuries in other populations has been shown to respond to diaphragmatic stimulation. We therefore proposed an early assessment for incomplete denervation by laparoscopic direct stimulation of the diaphragm and placement of a diaphragmatic pacing system to enhance diaphragm function.Case presentationA 3 year-old girl presented with AFM with clinically and electrodiagnostically severe involvement of all four limbs and muscles of respiration. Direct stimulation of the diaphragm demonstrated contraction and a diaphragmatic stimulator was placed at 3 weeks post presentation. The patient was immediately able to tolerate short bouts of reduced ventilation settings. Electromyography via the pacing wires demonstrated intact motor units consistent with partial denervation/reinnervation in the left hemidiaphragm, and no motor units in the right hemidiaphragm. At three months, she tolerated 6 h of pacing on pressure support setting. At 5 months she demonstrated larger tidal volumes with active pacing than without.DiscussionIn our experience, AFM patients who require chronic ventilator support are rarely able to be weaned. Despite clinical and surface electrodiagnostic evidence of complete phrenic nerve involvement, the patient’s diaphragm responded to direct stimulation. The patient preferred pacing over non-pacing times and showed improved ventilatory ability with pacing as opposed to without, though remains ventilator-dependent. These findings support augmentation of diaphragm function and possible enhanced recovery of spontaneous function.

Opinion statement The purpose of this article is to provide an overview of surgical disease for which the pediatric surgeon may be called upon to provide prenatal counseling to parents. Many surgical diseases are detected prenatally and benefit from pediatric surgical consultation. Moreover, there are increasing numbers of fetal interventions that can be performed for certain diseases in select cases. For example, investigation of fetal tracheal occlusion for congenital diaphragmatic hernia (TOTAL trial) is underway, and therapy for congenital bilateral renal agenesis (RAFT trial) is in the planning phase. For these reasons, many pediatric surgical diseases should be referred to a fetal center. Prenatal diagnosis of surgical disease will continue to increase, and the pediatric surgeon will have an important role in prenatal counseling and management. Pediatric surgeons should have a working knowledge of these diseases and know which ones will benefit from a referral to a fetal center.