Massive mature cystic teratoma of the head and neck, masquerading as a glial choristoma, causing respiratory compromise of a neonate.

Glial choristoma of the head and neck is a rare, benign congenital malformation consisting of a mass of heterotopic glial cells. In cases involving the upper aerodigestive tract, this can present with upper airway obstruction. In the acute setting, this can lead to diagnostic challenges due to the broad differential, as well as the additional difficulties in obtaining appropriate imaging and tissue samples due to the potential risk of airway compromise. We present a case of a neonate born with a large heterogenous mass involving the upper aerodigestive tract and multiple deep neck spaces which resulted in upper airway compromise requiring emergency surgical intervention in the form of a paediatric tracheostomy. We will discuss the histological findings which initially suggested a glial choristoma, work-up and treatment of this patient with the aim of supplementing the limited existing clinical knowledge of this congenital anomaly and understanding the implications of a paediatric tracheostomy in our setting.

A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1.

OBJECTIVE: With this case report, we would like to highlight the importance of a multidisciplinary approach and atypical findings of congenital high airway obstruction sequence (CHAOS), anhydramnios, and renal dysgenesis in the prenatal diagnosis of Fraser syndrome (FS). CASE REPORT: A 25-year-old primigravida at 19 weeks of routine anomaly scan revealed abnormal sonographic findings such as fetal bilateral dysplastic small kidneys and gross oligohydramnios. The further detailed evaluation revealed that both fetal lungs were hyperechogenic with prominent (dilated) trachea and bronchi suggestive of CHAOS. Based on these findings, a diagnosis of FS was suspected. The couple was counseled and the pregnancy was terminated. The postmortem evaluation and novel homozygous variant in the FRAS1 gene confirmed the diagnosis of FS. CONCLUSION: The diagnosis and counseling of the patient were supported by a well-coordinated, multidisciplinary approach involving an obstetrician, a fetal medicine specialist, a medical geneticist, and a fetal pathologist.

CHAOS: síndrome de obstrucción congénita de las vías aéreas superiores / CHAOS: congenital high airway obstruction syndrome

Resumen El síndrome de obstrucción congénita de vías áreas superiores (CHAOS) es una condición que se caracteriza por la existencia de una obstrucción en las vías áreas altas en el feto, la cual puede ser parcial o completa. Comúnmente es una situación incompatible con la vida, por lo que su diagnóstico prenatal es importante considerando el pronóstico y los diferentes manejos prenatales y posnatales que existen. Presentamos un caso de CHAOS diagnosticado en la semana 21, con una breve revisión de la literatura sobre su diagnóstico, pronóstico y alternativas terapéuticas.

Abstract Congenital high airway obstruction syndrome (CHAOS) is a condition characterized by the existence of an obstruction of the fetal upper airways, which may be partial or complete. It is commonly incompatible with life, so its prenatal diagnosis is important due to the prognosis and the recently described pre and postnatal management options. We present a case of CHAOS in a pregnancy of 21 weeks with a brief review of the current literature about its diagnosis, prognosis and therapeutic alternatives.

[Congenital high airway obstruction syndrome (CHAOS): a case report]. / Syndrome congénital d´obstruction des voies aériennes supérieures (syndrome du CHAOS): à propos d'un cas.

Congenital upper airway obstruction syndrome is a rare malformation that can be fatal to a newborn baby. It is defined as a complete or almost complete obstruction of the upper airways. CHAOS rate is unknown. We here report the case of a 24-year-old primiparous patient with no medical or surgical history. First-trimester ultrasound didn't show any abnormality. During the second trimester, ultrasonography showed extensive subcutaneous edema, hypertrophied lung with hyperechoic appearance, hypoplastic heart and large-volume ascites associated with severe oligoamnios. After having excluded the most common causes, including isoimmunization (indirect negative Coombs), infections (negative serologies) kariotiping was not performed because the patient refused it. The results of ultrasonography suggested fetal hydrops secondary to CHAOS syndrome, because of pathognomonic signs of pulmonary hypertrophy with inverted or convex diaphragm. MRI was requested; it suggested CHAOS syndrome associated with other malformations: laryngeal atresia, microphthalmia with hypertelorism and deviation of the nasal septum with lack of visualization of the thymic tissue, no clear identification of the bladder, absence of right kidney and hypoplastic left kidney. The outcome of pregnancy was marked by premature labour at the 24th week of amenorrhea. The baby had a birth weight of 1475g, polimalformations such as sexual ambiguity, distended abdomen and polydactyly . The newborn died 3 min after birth. Karyotyping was performed which showed 46XX.

A Graceful EXIT impeded by obstetrical complications.

We report an ex utero intrapartum therapy-to-airway procedure in which obstetric factors dramatically influenced the sequence of events necessary to complete the procedure.

Predictive Factors for Perinatal Outcomes of Infants Diagnosed With Micrognathia Antenatally.

INTRODUCTION: Advances in fetal imaging have allowed us to identify abnormalities previously not appreciated. With this study, we hope to identify factors predicting a difficult airway at birth and review the perinatal outcomes of these patients. METHODS: Sixteen patients with antenatally diagnosed micrognathia were reviewed from a tertiary care hospital database from 2011 to 2016. Jaw index (JI), amniotic fluid index (AFI), glossoptosis, gastric size, and oropharynx obliteration were assessed. The airway support required at birth, specialist team involvement, and outcomes were evaluated. RESULTS: Nine (56.3%) of 16 patients had JI <5th percentile, 3 (33.3%) of 9 had difficult intubation, 2 (22.2%) of 9 needed an emergency tracheostomy, and 1 (11.1%) of 9 died. Seven patients had polyhydramnios, 2 (28.6%) of 7 had difficult intubation, 2 (28.6%) of 7 required tracheostomy, and 1 (14.3%) of 7 died. Twelve patients had either JI <5th percentile or abnormal AFI, 5 (41.7%) of 12 had difficult intubation, 2 (16.7%) of 12 required tracheostomy, and 1 (8.33%) of 12 died. For the group without otolaryngology consultation, 8 (50%) of 16, 1 (12.5%) of 8 had difficult intubation and 1 (12.5%) of 8 died because airway was not secured after 45 minutes of resuscitation. CONCLUSION: Jaw index <5th percentile or abnormal AFI predicts a difficult airway. A multidisciplinary approach with otolaryngology involvement for airway intervention may be required at birth.

Prenatal diagnosis of laryngo-tracheo-esophageal anomalies in fetuses with congenital diaphragmatic hernia by ultrasound evaluation of the vocal cords and fetal laryngoesophagoscopy.

BACKGROUND: To evaluate the incidence of laryngeal ultrasound (US) abnormalities in fetuses with congenital diaphragmatic hernia (CDH) and to assess the utility of fetal laryngoesophagoscopy for prenatal diagnosis of laryngo-tracheo-esophageal anomalies. STUDY DESIGN: A cohort of CDH fetuses with laryngeal ultrasound abnormalities were selected for diagnostic fetal laringoesophagoscopy in a single fetal surgery center at Queretaro, Mexico. RESULTS: During the study period, 210 CDH fetuses were evaluated. US examination of the vocal cords was successfully performed in all fetuses, and abnormal ultrasound findings were observed in four cases (1.9%). Fetal laringoesophagoscopy was successfully performed in all four cases at a median gestational age of 29.5 (range, 28.1-30.6) weeks. During fetal intervention, a laryngo-tracheo-esophageal cleft (TEC) extending from the larynx to the carina (type IV) was endoscopically visualized in three cases, and laryngeal atresia coexisting with TEC was confirmed in the remaining case. Fetal karyotype was normal in all cases, but abnormal chromosomal microarray analysis was reported in two cases (50%). All cases were delivered liveborn with severe respiratory failure presenting cardiac arrest and immediate neonatal death. CONCLUSIONS: Laryngeal anomalies in CDH fetuses can be presumed by ultrasound evaluation of the vocal cords and confirmed by fetal laryngoesophagoscopy during pregnancy.

A Technical Look at Fetoscopic Laser Ablation for Fetal Laryngeal Surgical Recanalization in Congenital High Airway Obstruction Syndrome.

Background: Congenital high airway obstruction syndrome (CHAOS) is a rare condition characterized by complete obstruction of the upper fetal airways. Left untreated, it is uniformly fatal. Ex utero intrapartum treatment (EXIT) has been used to establish a surgical airway in affected fetuses during delivery. While this procedure benefits those fetuses that survive to delivery, high mortality in the prenatal period necessitates earlier innovative strategies. Herein, we report a novel technique for in utero intervention. Methods: A fetoscopic intervention was performed at 28 weeks on a 35-year-old G1P0 woman with fetal CHAOS from a laryngeal obstruction measuring 11 mm in length on prenatal imaging. Under ultrasound guidance, a 3.3-mm curved fetoscope was used to access the uterine cavity through a single subcentimeter maternal skin incision. The scope was driven through the fetal oral cavity and manipulated to attain a view of the vocal cords. A subglottic obstruction was observed. A 600-micron laser fiber was passed through the working channel of the scope and used to ablate the obstructed airway. Using the laser fiber and a guidewire, the ablated opening was traversed with the fetoscope to the level of the carina. Results: Postoperatively, the lungs became less hyperinflated. There was improvement in ascites and diaphragmatic eversion. At 31 1/7 weeks' gestation, the mother experienced preterm premature rupture of membranes with active labor and the fetus was delivered through EXIT to tracheostomy. The infant was managed on mechanical ventilation and is currently thriving at home with a tracheostomy at 2 years of age. Conclusion: Fetoscopy with laser ablation of the airway obstruction is an effective prenatal management strategy that offers the potential to alter the devastating natural course of CHAOS.

Death Shortly after Delivery Caused by Congenital High Airway Obstruction Syndrome.

Background: Congenital High Airway Obstruction Syndrome (CHAOS) is an uncommon anomaly. Prenatal ultrasonography allows a prenatal diagnosis to prepare for immediate surgical correction at birth. If the obstruction is severe and a correct therapeutic approach is not planned, CHAOS can cause neonatal death shortly after delivery from a potentially surgically correctable lesion.Case report: This neonate died unexpectedly shortly after delivery due to CHAOS. Ultrasonographic findings of enlarged echogenic lungs, dilated airways distal to the obstruction, flattened or inverted diaphragms, or ascites were absent. This was due to a type-II laryngeal-atresia and a type-C esophageal-atresia, with a resultant distal fistula that allowed intrauterine decompression of the fluid in the lungs.Conclusions: The absence of prenatal ultrasonographic findings of CHAOS may be due to a lower fistula between respiratory and gastrointestinal tracts. This set of associations may not be a surgically correctable cause of CHAOS.

The use of expandable metallic airway stent in a baby with tracheomalacia: A case report.

Tracheobronchomalacia is a rare condition in the pediatric age group which may be life-threatening when it occurs. The common form of tracheomalacia is congenital, presenting with wheezing and cough. We report a case of a 65-day-old baby who was treated with non-invasive mechanical ventilation due to respiratory distress since the day of birth. Tracheomalacia was diagnosed based on the physical examination and the thorax computerized tomography (CT) findings. Patient was initially treated with noninvasive positive pressure ventilation and thereafter, fitted with a tracheobronchial conical fully-covered self-expandable nitinol stent. After stent insertion and the respiratory situation of the patient improved, ventilatory weaning and extubation were possible. A careful selection of suitable patients, appropriate stent type and the site, where it has to be placed is mandatory for successful airway stenting. Also, children must be adequately followed-up to prevent the possible life-threatening complications after stent insertion.

Ex utero intrapartum treatment (EXIT) procedures.

Ex Utero Intrapartum Treatment (EXIT) is a technique developed to safely and efficiently establish cardiopulmonary support at delivery while maintaining placental bypass. Indications for the EXIT approach are expanding and currently include EXIT-to-airway, EXIT-to-resection, EXIT-to-extracorporeal membrane oxygenation (ECMO), and EXIT-to-separation of conjoined twins. The EXIT technique involves planned partial delivery of the fetus via hysterotomy while maintaining uterine relaxation and placental support, allowing for the establishment of neonatal cardiopulmonary stability in a controlled manner. Fetal interventions performed during EXIT can include endotracheal intubation, tracheostomy, mass excision, removal of a temporary tracheal occlusive device, ECMO cannulation, and others. The most important aspect of an EXIT procedure is the formation of a multi-disciplinary team with broad expertise in fetal intervention to collaborate throughout the pre, intra, and post-partum periods. This chapter reviews the prenatal workup, decision making, surgical indications, and operative considerations associated with EXIT procedures.

Causes of death shortly after delivery and medical malpractice claims in congenital high airway obstruction syndrome: Review of the literature.

Congenital High Airway Obstruction Syndrome is a rare pathology that may conduct the baby to death shortly after delivery. This outcome may cause emotional distress in the parents but it may also generate expensive medical malpractice claims about the reasons why the syndrome was not identified and/or correctly treated. The authors conducted a review of the cases in which Congenital High Airway Obstruction Syndrome caused death of the baby shortly after delivery. Then, they pointed out these ultrasonographic and anatomical reasons why the syndrome may be not identified and/or correctly treated: negative prenatal ultrasonography, recurrence of non-specific findings at prenatal ultrasonography, connection of respiratory and gastrointestinal tracts, tracheal agenesis or atresia, parent's refuse of post-partum therapeutic procedures, multiple malformations of the fetus/child. In conclusion, the authors highlighted that death shortly after delivery is usually caused by specific conditions that are not influenced by healthcare team's practice.

[EXIT: Experiences from Karolinska University Hopsital]. / EXIT ­ säkraste förlossningsmetod för foster med livshotande luftvägshinder - Samlade erfarenheter från Karolinska universitetssjukhuset.

The main, but not sole, indication for an Ex-utero Intrapartum Treatment (EXIT) delivery is an airway obstruction due to either laryngeal atresia or tumors in the head and neck region. Here we present our Institution's experience with eleven cases: three teratomas, four lymphatic malformations, two laryngeal atresias and two dermoid cysts. The EXIT procedure was used to secure the fetal airway while maintaining uteroplacental gas exchange and fetal hemodynamic stability through the umbilical circulation. Five fetuses required tracheostomy. Only one fetal death occurred due to extensive growth of a teratoma preventing us from establishing an airway. No other fetal or major maternal complication occurred. The EXIT procedure is a complex procedure and these rare cases should be referred to a center with a dedicated and experienced multidisciplinary team.

Clinical outcomes of ex utero intrapartum treatment for fetal airway obstruction.

PURPOSE: The aim of this study was to evaluate the indications and the clinical outcomes of the fetuses managed with ex utero intrapartum treatment (EXIT) procedures. METHODS: We retrospectively reviewed the medical records of all fetuses who underwent EXIT procedures between 2003 and 2018. RESULTS: EXIT procedures were performed in nine cases. The prenatal diagnosis of the neonates was congenital high airway obstruction syndrome in four cases, the neck masse in five cases. Although the airway management under the EXIT procedure was successful in eight cases, the airway management failed in one case. During the EXIT procedures, the airway was managed by endotracheal intubation in two cases, whereas six cases underwent tracheostomy. Six cases with fetal airway obstruction survived to discharge, whereas three cases died due to airway management failure or complications of the underlying disease. A case with a cervical teratoma underwent tumor resection the day after birth due to rapid enlargement of the neck mass. Long-term survival was achieved in five cases. CONCLUSIONS: We concluded that the EXIT procedure was effective and could be performed safely in the airway management of fetuses with suspected airway obstruction. The treatment strategy for the neck masses should be planned before birth.

Obstetric outcomes of ex-utero intrapartum treatment (EXIT).

BACKGROUND/PURPOSE: The ex-utero intrapartum treatment (EXIT) procedure is used to secure effective gas exchange prior to postnatal life. We describe the obstetrical course and maternal outcomes of a series of patients who underwent EXIT. METHODS: This is a review of all pregnancies in which fetuses were delivered by EXIT from January 2001 to April 2018. Outcome variables included estimated gestational age (EGA) at delivery, need for emergency EXIT, maternal estimated blood loss (EBL), need for maternal blood transfusion, and maternal postoperative length of hospital stay. Data were tested for normality and reported as median [range] and n (%). RESULTS: A total of 45 patients were delivered by EXIT procedure. Sixteen (35.6%) of the EXIT procedures were performed emergently. Median maternal EBL was 800 (500-2000) mL; 6 (13.3%) patients received blood transfusion. Median maternal postoperative length of hospital stay was four [3-7] days. CONCLUSION: Our data highlight the complexity of the obstetrical management in the EXIT procedure as evidenced by an approximately 36% chance of emergency delivery. Despite having an experienced multidisciplinary team, 13.3% of our subjects underwent maternal blood transfusion. This information can be used in counseling EXIT candidates regarding the risks and benefits of this procedure.

Long-term outcome of pre- and perinatal management of congenital head and neck tumors and malformations.

INTRODUCTION: Congenital head and neck pathology may cause direct postnatal airway obstruction. Prenatal diagnosis facilitates safe delivery with pre- and perinatal airway assessment and management and Ex-Utero-Intrapartum-Treatment (EXIT) if necessary. Fetoscopic airway evaluation can optimize the selection of patients in need of an EXIT procedure. METHODS: Description of 11 consecutive fetuses, born with a potential airway obstruction between 1999 and 2011 and treated at the University Hospitals Leuven, with a long-term follow-up until 2018. An algorithm including fetoscopic airway evaluation is presented. RESULTS: In utero imaging revealed seven teratomas, one fourth branchial pouch cyst, one thymopharyngeal duct remnant, one lymphatic malformation and one laryngeal atresia. A multidisciplinary team could avoid EXIT in eight patients by ultrasonographic (n = 2) or fetoscopic (n = 6) documentation of accessible airways. Three patients needed an EXIT-to-airway-procedure. Neonatal surgery included tracheostomy during EXIT (n = 2) and resection of teratoma (n = 7) or branchiogenic pathology (n = 3). All patients do well at long-term (minimum 54 months) follow-up. CONCLUSIONS: Combining prenatal imaging and perinatal fetoscopy, EXIT-procedure and neonatal surgery yields an optimal long-term outcome in these complex patients. Fetoscopy can dramatically reduce the number of EXIT-procedures.