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INTRODUCTION: Congenital pulmonary airway malformations (CPAM), intra- and extralobar bronchopulmonary sequestrations (iBPS/eBPS), CPAM-BPS hybrid lesions (HL), congenital lobar emphysema (CLE), bronchial atresia (BA), and foregut duplication cysts (FDC), collectively referred to as congenital thoracic lesions (CTL), are mostly solitary. Patients with multiple CTL are rare, and reports on such cases are scarce. To address this dearth, we analyzed a large multifocal CTL patient cohort. METHODS: Retrospective chart review of patients born between 1/1/2013 and 3/31/2023 who underwent surgery for a CTL at our tertiary center. Patients with radiological and surgical diagnosis of multifocal CTL, defined as ≥2 CTL present in more than one lobe were included to record pre-, peri-, and postnatal patient characteristics. RESULTS: Among 701 CTL patients, 74(10.5%) had multiple CTL. CTL multifocality was prenatally recognized correctly in 8(12.9%) patients. Most multiple CTL were right-sided, unilateral multilobar lesions (n=33, 44%). Bilateral CTL were found in 9(12.1%) patients. CPAM-CPAM lesions were the most prevalent CTL types (n=36, 49%). Genetic syndromes were confirmed in 3(4%) and additional congenital anomalies in 9(12.9%) patients, 5 of those had multiple congenital anomalies. Of 49(65%) patients with multilobar CTL, 25(51%) underwent bilobectomy and 24(49%) lung-sparing surgery. Length of stay was similar. Mortality was 5.4%. CONCLUSION: We report on the largest patient cohort with multiple CTL to date. Multiple CTL occurred in 1/10 patients with CTL, and only 12.9% were recognized prenatally. Lung-sparing surgery can be considered. Multiple additional congenital anomalies and genetic syndromes may be more common and genetic testing should be considered. Overall, outcomes in this patient population are favorable.
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Monochorionic twins are at risk for complications due to the presence of placental vascular anastomoses, including twin-twin transfusion syndrome, twin anemia-polycythemia sequence, selective fetal growth restriction, and twin reversed arterial perfusion sequence. While ultrasound is the primary modality to screen for the development of these complications, MRI plays an important role in assessing monochorionic twin pregnancies for the development of other complications, such as neurologic injury. In this article, the authors review the ultrasound imaging findings associated with monochorionic twin complications, management options, and the role for MRI in these pregnancies.
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Transfusión Feto-Fetal , Fetoscopía , Imagen por Resonancia Magnética , Humanos , Embarazo , Fetoscopía/métodos , Femenino , Imagen por Resonancia Magnética/métodos , Transfusión Feto-Fetal/diagnóstico por imagen , Transfusión Feto-Fetal/cirugía , Embarazo Gemelar , Ultrasonografía Prenatal/métodos , Gemelos MonocigóticosRESUMEN
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings. One case presented with non-immune hydrops fetalis and a horseshoe kidney and was found to have a de novo heterozygous variant in ACTB (c.158A>G). The second case presented with gastroschisis, bilateral cleft lip and palate, and oligohydramnios, and was found to harbor a different de novo variant in ACTB (c.826G>A). Limited reports exist describing prenatally identified anomalies that include fetal growth restriction, increased nuchal fold, bilateral hydronephrosis, rocker bottom foot, talipes, cystic hygroma, omphalocele, and hydrops fetalis. In addition, only three of these cases have included detailed prenatal imaging findings. The two prenatal cases presented here demonstrate an expansion of the prenatal phenotype of BWCFF to include gastroschisis, lymphatic involvement, and oligohydramnios, which should each warrant consideration of this diagnosis in the setting of additional anomalies.
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BACKGROUND: Enlarged cavum septum pellucidum (CSP) and hypoplastic thymus are proposed extra-cardiac fetal markers for 22q11.2 deletion syndrome. We sought to determine if they were part of the fetal phenotype of our cohort of fetuses with 22q11.2 deletion syndrome. METHODS: Case-control study of fetuses evaluated from 2016 to 2022. The study group included fetuses with laboratory confirmation of 22q11.2 deletion syndrome. The control group included pregnancies with conotruncal cardiac anomalies with normal microarray as well as structurally normal fetuses with normal microarray. The CSP and thymus were routinely measured during anatomical ultrasound in all patients at their initial visit at 27.1 ± 4.7 weeks. The CSP and thymus measurements were classified as abnormal if they were >95% or <5% for gestational age, respectively. The groups were compared using analysis of variance or Kruskal-Wallis for continuous variables and Fisher's exact test for categorical variables. Logistic regression was performed, and a Receiver Operating Characteristic (ROC) curve was constructed. RESULTS: We identified 47 fetuses with 22q11.2 deletion syndrome and compared them to 47 fetuses with conotruncal anomalies and normal microarray and 47 structurally normal fetuses with normal microarray. 51% (24/47) of fetuses with 22q11.2 deletion syndrome had an enlarged CSP compared to 6% (3/47) of fetuses with a conotruncal anomaly and normal microarray and none of the structurally normal fetuses (p < 0.001). Of the fetuses with 22q11.2 deletion syndrome, 83% (39/47) had a hypoplastic or absent thymus compared to 9% (4/47) of the fetuses with a conotruncal anomaly and normal microarray and none of the structurally normal fetuses (p < 0.001). 87% (41/47) of the fetuses with 22q11.2 deletion syndrome had conotruncal cardiac anomalies. Logistic regression revealed that both enlarged CSP and hypoplastic/absent thymus were associated with 22q11.2 deletion syndrome. The area under the ROC curve for the two markers was 0.94. CONCLUSION: An enlarged CSP and hypoplastic/absent thymus appear to be part of the fetal phenotype of 22q11.2 deletion syndrome. These markers are associated with conotruncal anomalies in the setting of 22q11.2 deletion syndrome but not in normal controls or fetuses with conotruncal defects and normal microarrays.
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Síndrome de DiGeorge , Tabique Pelúcido , Timo , Ultrasonografía Prenatal , Humanos , Femenino , Timo/anomalías , Timo/diagnóstico por imagen , Embarazo , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/diagnóstico por imagen , Estudios de Casos y Controles , Adulto , Tabique Pelúcido/anomalías , Tabique Pelúcido/diagnóstico por imagen , Biomarcadores , Estudios RetrospectivosRESUMEN
Oculocerebrorenal syndrome (Lowe syndrome) is a rare X-linked disorder affecting 1/500,000 males that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi-type renal dysfunction. Lowe Syndrome is caused by hemizygous loss of function variants in the OCRL gene. While individuals may live into the third and fourth decade of life, some will die in the first few years of either renal failure or infection. While early diagnosis is important, few cases have documented the prenatal phenotype of this condition, which has included bilateral cataracts and variable neurological abnormalities. We report a case of a family with an extensive history of congenital cataracts, immune compromise, and neonatal death in male members. The fetus was found to have a unilateral cataract, mild ventriculomegaly, vertebral anomalies, and an underlying diagnosis of Lowe Syndrome with a mutation in OCRL at c.2582-1G>C (IVS23-1G>C).
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Catarata , Síndrome Oculocerebrorrenal , Fenotipo , Humanos , Síndrome Oculocerebrorrenal/genética , Síndrome Oculocerebrorrenal/diagnóstico , Femenino , Masculino , Embarazo , Catarata/congénito , Catarata/diagnóstico , Catarata/genética , Adulto , Monoéster Fosfórico Hidrolasas/genética , Diagnóstico Prenatal/métodos , Recién NacidoRESUMEN
INTRODUCTION: The aim of the study was to identify predictors of poor outcomes in monochorionic diamniotic twin (MCDA) pregnancies with selective fetal growth restriction (sFGR), irrespective of the umbilical artery (UA) Doppler abnormalities. METHODS: Single-center retrospective analysis of MCDA twins diagnosed with sFGR that opted for expectant management between 2010 and 2021. The presence of any of the following variables in the growth-restricted fetus: low amniotic fluid volume (DVP ≤2 cm), lack of a cycling bladder, absent or reversed flow in the ductus venosus (DV) with atrial contraction, and elevated middle cerebral artery peak systolic velocity (MCA-PSV) defined as ≥1.50 multiples of the median was categorized as complicated. sFGR cases were classified as simple in the absence of the above-mentioned variables. RESULTS: Overall, 63.3% of cases qualified as simple, and 36.7% were complicated. Intertwin EFW discordance was higher in the complicated category (26 vs. 33%, p = 0.0002). The median gestational age at delivery was earlier (33 weeks vs. 30.5 weeks, p = 0.002), and the likelihood of survival was lower in the complicated category (p < 0.0001). The likelihood of two survivors to discharge was lower in type I complicated cases (70% in complicated type I vs. 97.1% in simple type I, p = 0.0003). On logistic regression analysis, an increase in the "complicated" score negatively correlated with two survivors to discharge (p < 0.0001). An ROC curve was created, and the AUC was 0.79. Increasing intertwin EFW discordance also decreased the probability of two survivors to discharge. CONCLUSION: The presence of oligohydramnios, lack of a cycling bladder, abnormal DV Doppler, and elevated MCA-PSV in the growth restricted fetus is associated with poor perinatal outcomes and a lower likelihood of having two survivors to discharge. The addition of intertwin EFW discordance to these variables helped improve the survival predictability.
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Retardo del Crecimiento Fetal , Embarazo Gemelar , Ultrasonografía Prenatal , Humanos , Femenino , Embarazo , Estudios Retrospectivos , Retardo del Crecimiento Fetal/diagnóstico por imagen , Retardo del Crecimiento Fetal/fisiopatología , Adulto , Resultado del Embarazo/epidemiología , Arterias Umbilicales/diagnóstico por imagen , Gemelos Monocigóticos , Edad GestacionalRESUMEN
There is a broad range of variant phenotypes that can occur within the bladder exstrophy and epispadias complex spectrum. Accurate prenatal detection helps prepare families and to coordinate subspecialty resources. Here, we present the case of a patient with prenatally diagnosed patient with covered cloacal exstrophy variant along with four additional cases illustrating the nonlinear spectrum from isolated epispadias to cloacal exstrophy. Given the rarity of these variants overall and of each subtype within the spectrum, there is a need for long-term multi-institutional outcomes data to improve detection, characterization, and prognostication for these patients.
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Malformaciones Anorrectales , Extrofia de la Vejiga , Epispadias , Embarazo , Femenino , Humanos , Epispadias/diagnóstico , Epispadias/cirugía , Extrofia de la Vejiga/diagnóstico , Extrofia de la Vejiga/cirugíaRESUMEN
INTRODUCTION: Micrognathic neonates are at risk for upper airway obstruction, and many require intubation in the delivery room. Ex-utero intrapartum treatment is one technique for managing airway obstruction but poses substantial maternal risks. Procedure requiring a second team in the operating room is an alternative approach to secure the obstructed airway while minimizing maternal risk. The aim of this study was to describe the patient characteristics, airway management, and outcomes for micrognathic neonates and their mothers undergoing a procedure requiring a second team in the operating room at a single quaternary care children's hospital. METHODS: This was a retrospective descriptive study. Subjects had prenatally diagnosed micrognathia and underwent procedure requiring a second team in the operating room between 2009 and 2021. Collected data included infant characteristics, delivery room airway management, critical events, and medications. Follow-up data included genetic testing and subsequent procedures within 90 days. Maternal data included type of anesthetic, blood loss, and incidence of transfusion. RESULTS: Fourteen deliveries were performed via procedure requiring a second team in the operating room during the study period. 85.7% were male, and 50% had a genetic syndrome. Spontaneous respiratory efforts were observed in 93%. Twelve patients (85.7%) required an endotracheal tube or tracheostomy. Management approaches varied. Medications were primarily a combination of atropine, ketamine, and dexmedetomidine. Oxygen desaturation was common, and three patients experienced bradycardia. There were no periprocedural deaths. Follow-up at 90 days revealed that 78% of patients underwent at least one additional procedure, and one patient died due to an unrelated cause. All mothers underwent cesarean deliveries under neuraxial anesthesia. Median blood loss was 700 mL [IQR 700 mL, 800 mL]. Only one mother required a blood transfusion for pre-procedural placental abruption. DISCUSSION: Procedure requiring a second team in the operating room is a safe and effective approach to manage airway obstruction in micrognathic neonates while minimizing maternal morbidity. CONCLUSIONS: Though shown to be safe and effective, more data are needed to support the use of procedure requiring a second team in the operating room as an alternative to ex-utero intrapartum treatment for micrognathia outside of highly specialized maternal-fetal centers.
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Obstrucción de las Vías Aéreas , Micrognatismo , Recién Nacido , Lactante , Niño , Humanos , Masculino , Femenino , Embarazo , Micrognatismo/complicaciones , Estudios Retrospectivos , Placenta , Manejo de la Vía Aérea/métodos , Obstrucción de las Vías Aéreas/terapiaRESUMEN
Infants with congenital diaphragmatic hernia (CDH) benefit from comprehensive multidisciplinary teams that have experience in caring for the unique and complex issues associated with CDH. Despite prenatal referral to specialized high-volume centers, advanced ventilation strategies and pulmonary hypertension management, and extracorporeal membrane oxygenation, mortality and morbidity remain high. These infants have unique and complex issues that begin in fetal and infant life, but persist through adulthood. Here we will review the literature and share our clinical care pathway for neonatal care and follow up. While many advances have occurred in the past few decades, our work is just beginning to continue to improve the mortality, but also importantly the morbidity of CDH.
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BACKGROUND: Selective cord occlusion is an option in complicated monochorionic multiple gestations with the goal of reducing the pregnancy by one fetus and to optimize the outcomes for the remaining fetus(es). OBJECTIVE: This study aimed to determine the rate and associated risk factors of dual demise in complex monochorionic pregnancies after selective cord occlusion via radiofrequency ablation. STUDY DESIGN: This was a single-center analysis of a prospective registry cohort of complex monochorionic pregnancies managed with selective cord occlusion via radiofrequency ablation between 2014 and 2021. A total of 167 pregnancies met the inclusion criteria and were evaluated on the basis of the intended outcome of dual demise vs singleton survival. Risk factors were compared between the 2 groups. The Mann-Whitney U test was used for continuous variables and the Fisher exact test was used for categorical variables. RESULTS: The incidence of postprocedure dual demise within the first week after performing radiofrequency ablation was 10.8% (18/167). The risk was higher in pregnancies undergoing radiofrequency ablation for discordant anomaly, and this subcategory constituted 38.9% of pregnancies in the dual demise subgroup (P=.02). Lower intertwin estimated fetal weight discordance (P=.01) was associated with dual demise. Perioperative variables including gestational age at procedure, placental cord insertion distance, operative time, and radiofrequency ablation time were similar in those with and without dual demise. CONCLUSION: Our results show that selective cord occlusion via radiofrequency ablation is a safe and reasonable option in complicated monochorionic pregnancies, with low rates of dual demise within the first week after the procedure.
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Placenta , Ablación por Radiofrecuencia , Embarazo , Femenino , Humanos , Gemelos Monocigóticos , Atención Prenatal , Edad GestacionalRESUMEN
PURPOSE: The purpose of the study was to better understand the clinical course and impact of tethered cord release surgery on patients who have previously undergone open spinal dysraphism closure in utero. METHODS: This is a single-center retrospective observational study on patients undergoing tethered cord release after having previously had open fetal myelomeningocele (MMC) closure. All patients underwent tethered cord release surgery with a single neurosurgeon. A detailed analysis of the patients' preoperative presentation, intraoperative neuromonitoring (IONM) data, and postoperative course was performed. RESULTS: From 2009 to 2021, 51 patients who had previously undergone fetal MMC closure had tethered cord release surgery performed. On both preoperative and postoperative manual motor testing, patients were found to have on average 2 levels better than would be expected from the determined anatomic level from fetal imaging. The electrophysiologic functional level was found on average to be 2.5 levels better than the anatomical fetal level. Postoperative motor levels when tested on average at 4 months were largely unchanged when compared to preoperative levels. Unlike the motor signals, 46 (90%) of patients had unreliable or undetectable lower extremity somatosensory evoked potentials (SSEPs) prior to the tethered cord release. CONCLUSION: Tethered cord surgery can be safely performed in patients after open fetal MMC closure without clinical decline in manual motor testing. Patients often have functional nerve roots below the anatomic level. Sensory function appears to be more severely affected in patients leading to a consistent motor-sensory imbalance.
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Meningomielocele , Defectos del Tubo Neural , Disrafia Espinal , Humanos , Meningomielocele/cirugía , Defectos del Tubo Neural/cirugía , Procedimientos Neuroquirúrgicos/efectos adversos , Procedimientos Neuroquirúrgicos/métodos , Disrafia Espinal/cirugía , Potenciales Evocados Somatosensoriales , Estudios RetrospectivosRESUMEN
PURPOSE: Ultrasound is the first-line imaging modality to evaluate adnexa in girls with clinical suspicion of torsion. Patients with equivocal ultrasound findings can undergo MRI for better delineation of adnexal pathology. Here, we assess the utility of intravenous contrast in MRI evaluation of adnexal torsion in children. METHODS: Two pediatric radiologists (R1, R2) retrospectively reviewed 198 pelvic MRI exams in 172 girls (median age 15 years). Each MRI was reviewed twice. The first review included pre-contrast images only. A second review, at least 1 month later, included both pre- and post-contrast images. Readers concluded if findings were suspicious for torsion or not. Readers' findings were compared to each other's and to surgical and MRI reports and clinical course. RESULTS: 198 MRI exams yielded 354 evaluable ovaries. Surgical and pathological reports were available for 47 patients. 11 patients had adnexal torsion. Both readers accurately diagnosed acutely torsed ovaries during pre- and post-contrast reviews (n = 4). However, readers disagreed on torsed paraovarian cysts (n = 4) and chronically/intermittently torsed ovaries (n = 3). In 21 non-torsed ovaries that had lesions, one or both readers concluded that there were pre-contrast features of torsion. In this set with ovarian lesions, contrast helped readers to correctly conclude no torsion (R1 = 8, R2 = 6) more commonly than to incorrectly conclude torsion (1 each), improving post-contrast specificity for each reader. CONCLUSIONS: Post-contrast sequences did not provide additional benefit in evaluating acutely torsed ovaries but helped in excluding torsion in patients with adnexal lesions. Therefore, contrast administration should be individualized, potentially reserved only for those with abnormal ultrasound or pre-contrast images.
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Enfermedades de los Anexos , Quistes Ováricos , Neoplasias Ováricas , Enfermedades de los Anexos/diagnóstico por imagen , Enfermedades de los Anexos/cirugía , Adolescente , Niño , Medios de Contraste , Femenino , Gadolinio , Humanos , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Torsión Ovárica , Estudios Retrospectivos , Anomalía Torsional/diagnóstico por imagen , Anomalía Torsional/cirugíaRESUMEN
INTRODUCTION: The aim of the study was to determine if markers of donor placental insufficiency and recipient cardiac dysfunction increase the risk for single fetal demise (SFD) after laser for twin-twin transfusion syndrome (TTTS). METHODS: Single-center retrospective review of patients who had laser for TTTS. Risk factors for donor and recipient demise within 1 week were compared in pregnancies with SFD and pregnancies with dual survival using χ2 or Fisher's exact test. Multivariate logistic regression was then performed. RESULTS: Of 398 procedures, 305 (76.6%) had dual survival, 36 (9.0%) had donor demise, 28 (7.0%) had recipient demise, and 9 (2.3%) had dual demise. The remaining 20 (5.0%) patients had complicated courses with pregnancy loss or further intervention. In the 64 pregnancies with SFD, 29 (81%) in the donor group and 20 (71%) in the recipient group occurred in the first postoperative week. For the donor demise group, estimated fetal weight (EFW) <10%, EFW <3%, EFW <1%, EFW discordance >25%, and EFW discordance >30% did not increase the risk for donor demise except in cases that also had umbilical artery absent or reversed end diastolic flow (AREDF). Donor AREDF was the only independent risk factor for early donor demise. For the recipient demise group, recipient abnormal venous Dopplers were associated with increased risk while EFW discordance >25% was associated with decreased risk of recipient loss. DISCUSSION/CONCLUSION: In our cohort, donor growth restriction did not increase the risk of early donor demise after laser unless there was also donor AREDF. Donor AREDF was an independent risk factor for donor demise likely due to the severity of placental insufficiency. Abnormal recipient venous Doppler indices increased the risk of early recipient loss while a large intertwin discordance decreased the risk. This may be explained by profound overload in cases with recipient abnormal venous Doppler velocimetry and a lower risk of substantial fluid shifts from a relatively smaller donor territory when there is a large discordance.
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Transfusión Feto-Fetal , Insuficiencia Placentaria , Embarazo , Humanos , Femenino , Placenta/irrigación sanguínea , Muerte Fetal/etiología , Rayos Láser , Coagulación con Láser/efectos adversos , Coagulación con Láser/métodosRESUMEN
BACKGROUND: Mediastinal and pericardial teratomas have overlapping imaging features that may make accurate prenatal diagnosis challenging. OBJECTIVE: To identify prenatal imaging features that may aid in distinguishing between mediastinal and pericardial teratomas. MATERIALS AND METHODS: Prenatally diagnosed pericardial and mediastinal teratomas evaluated at our fetal center from 1995 to 2020 were included in this Institutional Review Board-approved study. Lesion volume was calculated using prospectively reported ultrasound (US) measurements and the formula of a prolate ellipsoid, which was then normalized to head circumference. Prenatal US and magnetic resonance imaging (MRI) studies were anonymized with two fetal imagers reviewing the US studies and two different fetal imagers reviewing the MRI studies. These experienced reviewers scored location of the mass in the craniocaudal axis and in the transverse axis. MRI reviewers also scored the presence of inferior cardiac compression by the lesion and whether there was identifiable thymic tissue. Reviewer disagreements were resolved by consensus review. RESULTS: Eleven pericardial teratomas and 10 mediastinal teratomas were identified. All cases underwent detailed fetal anatomic US and fetal echocardiogram and 10/11 (91%) pericardial teratomas and 8/10 (80%) mediastinal teratomas underwent fetal MRI. Median volume was higher for mediastinal teratomas compared to pericardial teratomas (42.5 mL [interquartile range (IQR) 15.9 - 67.2 mL] vs. 8.1 mL [IQR 7.7 - 27.7 mL], P=0.01) and median volume/head circumference was also statistically higher in mediastinal teratomas (1.33 [IQR 0.78 - 2.61] vs. 0.43 [IQR 0.38 - 1.10], P=0.01). Logistic regression analysis demonstrated a statistical difference between teratoma types with respect to location in the craniocaudal axis by both modalities with mediastinal teratomas more commonly located in the upper and upper-middle thorax compared to pericardial teratomas, which were more commonly found in the middle thorax (US, P=0.03; MRI, P=0.04). Logistic regression analysis also demonstrated a statistical difference between teratoma types with respect to position along the transverse axis by both modalities with mediastinal teratomas more commonly located midline or left paramedian and pericardial teratomas more often right paramedian in location (US, P<0.01; MRI, P=0.02). Inferior cardiac compression observed by MRI was associated more commonly with mediastinal teratomas compared to pericardial teratomas (87.5% [7/8] vs. 10% [1/10], P<0.01). Identifiable thymus by MRI was more commonly observed in cases of pericardial teratomas, however, this difference was not statistically significant (P=0.32). CONCLUSION: Mediastinal teratomas are associated with larger lesion size and inferior cardiac compression when compared to pericardial teratomas. These features combined with lesion location in the craniocaudal and transverse axes may allow for more accurate prenatal diagnosis and optimal perinatal and surgical management.
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Neoplasias Cardíacas , Neoplasias del Mediastino , Teratoma , Embarazo , Femenino , Humanos , Teratoma/diagnóstico por imagen , Teratoma/patología , Mediastino/diagnóstico por imagen , Pericardio/diagnóstico por imagen , Neoplasias del Mediastino/diagnóstico por imagen , Ultrasonografía PrenatalRESUMEN
OBJECTIVE: To examine the association between prenatal magnetic resonance imaging (MRI) based observed/expected total lung volume (O/E TLV) and outcome in neonates with giant omphalocele (GO). METHODS: Between 06/2004 and 12/2019, 67 cases with isolated GO underwent prenatal and postnatal care at our institution. MRI-based O/E TLVs were calculated based on normative data from Meyers and from Rypens and correlated with postnatal survival and morbidities. O/E TLV scores were grouped based on severity into <25% (severe), between 25% and 50% (moderate), and >50% (mild) for risk stratification. RESULTS: O/E TLV was calculated for all patients according to Meyers nomograms and for 49 patients according to Rypens nomograms. Survival for GO neonates with severe, moderate, and mild pulmonary hypoplasia based on Meyers O/E TLV categories was 60%, 92%, and 96%, respectively (p = 0.04). There was a significant inverse association between Meyers O/E TLV and risk of neonatal morbidities (p < 0.05). A similar trend was observed with Rypens O/E TLV, but associations were less often significant likely related to the smaller sample size. CONCLUSION: Neonatal outcomes are related to fetal lung size in isolated GO. Assessment of Meyers O/E TLV allows identification of GO fetuses at greatest risk for complications secondary to pulmonary hypoplasia.
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Hernia Umbilical/diagnóstico , Pulmón/crecimiento & desarrollo , Imagen por Resonancia Magnética/normas , Pruebas Prenatales no Invasivas/normas , Femenino , Feto/fisiología , Edad Gestacional , Hernia Umbilical/epidemiología , Humanos , Recién Nacido , Mediciones del Volumen Pulmonar/instrumentación , Mediciones del Volumen Pulmonar/métodos , Imagen por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/estadística & datos numéricos , Nomogramas , Pruebas Prenatales no Invasivas/métodos , Pruebas Prenatales no Invasivas/estadística & datos numéricos , Embarazo , Resultado del Embarazo/epidemiología , Estudios RetrospectivosRESUMEN
PURPOSE: To investigate antenatally-determined imaging characteristics associated with invasive airway management at birth in patients with cervical masses, as well as to describe postnatal management and outcomes. STUDY DESIGN: A retrospective analysis of 52 patients with antenatally diagnosed neck masses was performed using single-center data from January 2008 to January 2019. Antenatal imaging, method of delivery, management, and outcomes data were abstracted from the medical record and analyzed. RESULTS: Antenatal diagnosis of neck masses in this cohort consisted of 41 lymphatic malformations (78.8%), 6 teratomas (11.5%), 3 hemangiomas (5.8%), 1 hemangioendothelioma (1.9%), and 1 giant foregut duplication cyst (1.9%). Mean gestational age at time of diagnostic imaging was 29 weeks 3 days (range: 19w4d - 37w). Overall, 22 patients (42.3%) required invasive airway management at birth, specifically 18 patients (34.6%) required endotracheal intubation and 4 (7.7%) required tracheostomy. 15 patients (28.8%) underwent ex-utero intrapartum treatment (EXIT) for the purposes of securing an airway. Polyhydramnios, tracheal deviation and compression, and anterior mass location on antenatal imaging were significantly associated with incidence of invasive airway intervention at birth, EXIT procedure, and tracheostomy during the neonatal hospitalization (p < 0.025; Fisher's exact test). Logistic regression analysis demonstrated statistically significant association between increasing antenatally-estimated mass volume and incidence of invasive airway management at birth (p = 0.02). Post-natal cervical mass management involved surgical excision (32.7%), sclerotherapy (50%), and adjuvant therapy with rapamycin (17.3%). Demise in the neonatal period occurred in 4 (7.7%) patients. CONCLUSION: This series documents the largest single-center experience of airway management in antenatally diagnosed cervical masses. Fetal imaging characteristics may help inform the appropriate method of delivery, airway management strategy at birth, and prenatal counseling.
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Obstrucción de las Vías Aéreas , Teratoma , Manejo de la Vía Aérea , Obstrucción de las Vías Aéreas/diagnóstico por imagen , Obstrucción de las Vías Aéreas/etiología , Análisis Factorial , Femenino , Humanos , Recién Nacido , Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Teratoma/diagnóstico por imagen , Teratoma/cirugía , Ultrasonografía PrenatalRESUMEN
The Appropriateness Criteria for the imaging screening of second and third trimester fetuses for anomalies are presented for fetuses that are low risk, high risk, have had soft markers detected on ultrasound, and have had major anomalies detected on ultrasound. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
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Diagnóstico por Imagen , Sociedades Médicas , Femenino , Humanos , Embarazo , Tercer Trimestre del Embarazo , Investigación , Ultrasonografía , Estados UnidosRESUMEN
Fetal lung lesions include common lesions such as congenital pulmonary airway malformation (CPAM), bronchopulmonary sequestration (BPS) and combined CPAM-BPS hybrid lesions, as well as less common entities including congenital lobar emphysema/obstruction, bronchial atresia, bronchogenic cysts and rare malignant pulmonary lesions such as pleuropulmonary blastoma. Fetal lung lesions occur in approximately 1 in 15,000 live births and are thought to arise from a spectrum of abnormalities related to airway obstruction and malformation, with the lesion type depending on the timing of insult, level of bronchial tree involvement, and severity of obstruction. Lesions vary from small and asymptomatic to large and symptomatic with significant mass effect on surrounding structures. Accurate diagnosis and characterization of these anomalies is crucial for guiding patient counseling as well as perinatal and postnatal management. The goal of this review is to provide an overview of normal fetal lung appearance and imaging features of common and uncommon lesions on both ultrasound and MR imaging, and to discuss key aspects in reporting and evaluating the severity of these lesions.
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Secuestro Broncopulmonar , Malformación Adenomatoide Quística Congénita del Pulmón , Femenino , Humanos , Pulmón/diagnóstico por imagen , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Embarazo , Diagnóstico Prenatal , Ultrasonografía PrenatalRESUMEN
A fetus with an increased nuchal translucency at 11 to 14 weeks gestation is at risk for aneuploidy, genetic syndromes, structural anomalies, and intrauterine fetal demise in both single and twin gestations. In addition to referral to genetics for counseling and consideration of diagnostic genetic testing, a detailed anatomic survey and fetal echocardiogram are indicated in the second trimester to screen for congenital malformations and major heart defects. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
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Medida de Translucencia Nucal , Sociedades Médicas , Diagnóstico por Imagen , Medicina Basada en la Evidencia , Femenino , Humanos , Embarazo , Estados UnidosRESUMEN
Vaginal bleeding can occur throughout pregnancy with varied etiologies. Although history and physical examination can identify many etiologies, imaging, in particular ultrasound (US), is the backbone of current medical practice. US pregnant uterus transabdominal, US pregnant uterus transvaginal, and US duplex Doppler velocimetry are usually appropriate for the evaluation of women with painless vaginal bleeding, those with painful vaginal bleeding, and also for those with second or third trimester vaginal bleeding with suspicion of or known placenta previa, low-lying placenta, or vasa previa. US cervix transperineal may be appropriate for those with painless or painful vaginal bleeding but is usually not appropriate for second or third trimester vaginal bleeding with suspicion of or known placenta previa, low-lying placenta, or vasa previa. Because the outcome of pregnancies is unequivocally related to the specific etiology of the vaginal bleeding, knowledge of imaging results directly informs patient management to optimize the outcome for mother and fetus. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.