Congenital High Airway Obstruction Syndrome Research Articles

Prenatally Diagnosed Congenital High Airway Obstruction Syndrome: Perinatal Management and Outcome—A Single Tertiary Care Center Experience

AbstractTo report our experience with the management of prenatally diagnosed cases of congenital high airway obstruction syndrome (CHAOS) and the postnatal outcome of those who underwent an ex utero intrapartum treatment (EXIT) procedure. This is a single center, retrospective observational study of prenatally diagnosed CHAOS cases using two-dimensional ultrasound from December 2017 to December 2022 in a tertiary care facility. Of the total nine fetuses prenatally diagnosed with CHAOS, three (33.3%) were associated with multiple congenital anomalies, seven out of nine (77.8%) developed ascites, and one had fetal hydrops. Five (55.6%) underwent medical termination of pregnancy and two were lost to follow-up (22.2%). The remaining two continued pregnancy and required EXIT tracheostomy at the time of delivery (22.2%). Microarray was performed in both which was normal. Postnatally, both infants are tracheostomy dependent with one requiring frequent ventilator support. CHAOS even when isolated generally has poor prognosis without intervention. Performing an EXIT procedure at birth can significantly improve postnatal survival by minimizing hypoxic damage. However, the long-term medical and surgical challenges for survivors remain numerous especially speech disorders, even after lifesaving fetal intervention and surgical correction. Therefore, an accurate prenatal diagnosis is necessary to give the couple an option of continuing pregnancy after realistic counseling regarding the prognosis and postnatal outcome.

The silent storm: a case report of missed antenatal diagnosis leading to fatal respiratory distress and death in a rare case of congenital high airway obstruction syndrome

Congenital high airway obstruction syndrome in neonates is a rare, life-threatening condition characterized by upper airway obstruction. Typically diagnosed prenatally through advanced imaging, CHAOS results from anomalies such as laryngeal atresia or web or tracheal stenosis. Neonates with CHAOS face respiratory distress at birth, necessitating prompt intervention. Management often involves ex-utero intrapartum treatment procedure or tracheostomy to establish a secure airway. Timely diagnosis and multidisciplinary collaboration are crucial for optimizing outcomes in affected infants. Despite its rarity, CHAOS demands heightened clinical awareness to ensure swift, tailored interventions and improve the chances of neonatal survival. We report here a case of CHAOS which was not diagnosed on antenatal ultrasonography.

In a fetus’ “CHAOS” there is no cosmos, in this disorder exists only one order

Congenital high airway obstruction syndrome (CHAOS) is a partial or complete obstruction of the fetal upper airways and is an extremely rare entity. The most common cause of CHAOS is tracheal or laryngeal atresia. Laryngeal agenesis, laryngeal webs or cysts, and even subglottic stenosis can be rare causes. We present the rare case of a large cervical teratoma impinging on the upper airways of a fetus and causing CHAOS.

Atresia laríngea fetal como causa de obstrucción congénita de las vías aéreas superiores

Congenital high airway obstruction syndrome (CHAOS) is total or partial obstruction of the fetal high respiratory tract, the most common cause being laryngeal atresia. It is a rare and fatal condition if perinatal intervention is not performed or if it is unrecognized. Prenatal ultrasound images show typical findings that can help in an early diagnosis, which is important to decide the successful planning of perinatal management or elective termination of pregnancy. A case diagnosed prenatally due to its characteristic ultrasound findings is presented.

P638: Identification of a pathogenic variant in NSDHL in a patient with congenital high airway obstruction (CHAOS) syndrome

P638: Identification of a pathogenic variant in NSDHL in a patient with congenital high airway obstruction (CHAOS) syndrome

EP23.18: Congenital high airway obstruction syndrome and associated ultrasound findings: a case report

EP23.18: Congenital high airway obstruction syndrome and associated ultrasound findings: a case report

Congenital High Airway Obstruction Syndrome (CHAOS): Prenatal Diagnosis and Perinatal Intervention – A Case Report

Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening fetal anomaly which occurs as a result of either partial or complete obstruction of the upper fetal airway. Prenatal recognition is important for multidisciplinary team management. We present a case with CHAOS diagnosed antenatal imaging and the baby was delivered via ex utero intrapartum treatment (EXIT) procedure. The airway managed to be secured via tracheostomy while maintaining the fetus on feto-placental circulation. However, oxygen saturation started to decline despite successfully securing the upper airway. Unfortunately, we lost the baby despite active resuscitation possibly due to insufficient lung function secondary to chronic obstruction prenatally.

Super-resolution Reconstruction MRI Application in Fetal Neck Masses and Congenital High Airway Obstruction Syndrome.

ObjectiveReliable airway patency diagnosis in fetal tracheolaryngeal obstruction is crucial to select and plan ex utero intrapartum treatment (EXIT) surgery. We compared the clinical utility of magnetic resonance imaging (MRI) super-resolution reconstruction (SRR) of the trachea, which can mitigate unpredictable fetal motion effects, with standard 2-dimensional (2D) MRI for airway patency diagnosis and assessment of fetal neck mass anatomy.Study DesignA single-center case series of 7 consecutive singleton pregnancies with complex upper airway obstruction (2013-2019).SettingA tertiary fetal medicine unit performing EXIT surgery.MethodsMRI SRR of the trachea was performed involving rigid motion correction of acquired 2D MRI slices combined with robust outlier detection to reconstruct an isotropic high-resolution volume. SRR, 2D MRI, and paired data were blindly assessed by 3 radiologists in 3 experimental rounds.ResultsAirway patency was correctly diagnosed in 4 of 7 cases (57%) with 2D MRI as compared with 2 of 7 cases (29%) with SRR alone or paired 2D MRI and SRR. Radiologists were more confident (P = .026) in airway patency diagnosis when using 2D MRI than SRR. Anatomic clarity was higher with SRR (P = .027) or paired data (P = .041) in comparison with 2D MRI alone. Radiologists detected further anatomic details by using paired images versus 2D MRI alone (P < .001). Cognitive load, as assessed by the NASA Task Load Index, was increased with paired or SRR data in comparison with 2D MRI.ConclusionThe addition of SRR to 2D MRI does not increase fetal airway patency diagnostic accuracy but does provide improved anatomic information, which may benefit surgical planning of EXIT procedures.

VP14.08: Congenital high airway obstruction syndrome: spontaneous resolution in utero

VP14.08: Congenital high airway obstruction syndrome: spontaneous resolution <i>in utero</i>

Utility of three-dimensional modeling of the fetal airway for ex utero intrapartum treatment.

Recent technological developments in three-dimensional (3D) printing have created new opportunities for applications in clinical medicine. 3D printing has been adopted for teaching and planning complicated surgeries, including maxillofacial, orthopedic reconstructions, and airway manipulation for one-lung ventilation or airway stenting. We present here the first use of such technology to print a model from in utero imaging for intrapartum treatment planning. A 32-week fetus presented with congenital high airway obstruction syndrome (CHAOS) due to a large cervical lymphatic malformation. An ex utero intrapartum treatment (EXIT) procedure was planned to allow delivery of a viable infant. We printed a 3D model of the fetal airway by printing separate elements: mandible, tongue, mass, larynx, and trachea from the fetal MRI. The elements were stuck together maintaining correct anatomical relationships. Airway planning was then performed in consultation with a pediatric ear nose and throat (ENT) surgeon. 3D modeling in utero presents many challenges: the resolution of the 3D model generated from a fetal MRI is less crisp than from CT images, fetal position may be variable and not in a defined anatomical plane, movement artifact occurs. Nevertheless, pre-procedure simulations with the aid of 3D modeling promoted team cooperation and well-prepared management of the fetus during EXIT.

Congenital high airway obstruction syndrome: prenatal ultrasound diagnosis and literature review

Congenital high airway obstruction syndrome (CHAOS) is a rare congenital anomaly involving the upper airways (trachea, larynx). It is a life-threatening condition whose true incidence is unknown. The obstruction may be due to tracheal/laryngeal atresia, stenosis, or the presence of a mass lesion. Prognosis is poor, generally resulting in stillbirth or intrauterine fetal demise. Ex utero intrapartum treatment (EXIT) is possible if the condition is detected early. We present a case of CHAOS diagnosed during a second-trimester anomaly scan with postmortem confirmation and literature review.

Perinatal outcome of fetuses with congenital high airway obstruction syndrome: a single-center experience.

ObjectiveTo report our experience with management of fetuses with congenital high airway obstruction syndrome (CHAOS).MethodsWe retrospectively reviewed the cases of fetuses who were prenatally diagnosed and postnatally confirmed with CHAOS between 2010 and 2019 at Asan Medical Center, Seoul, Korea.ResultsOf 13 fetuses prenatally diagnosed with CHAOS, 7 were lost to follow-up and 6 were postnatally confirmed as having CHAOS. All fetuses, except one were delivered via cesarean section with an ex utero intrapartum treatment (EXIT) procedure. Two patients had coexisting congenital heart diseases requiring several cardiac surgeries following birth. Both of these patients demonstrated developmental delay; however, the remaining 4 had a normal development except for expressive language. Two infants died of respiratory complications, and the remaining 4 were alive at the end of the follow-up period. All 4 live patients underwent tracheostomy with planned reconstruction surgery. Three children are now able to phonate, and 1 can maintain a conservation.ConclusionThe proper management of CHAOS using the EXIT procedure results in high survival and low hypoxemia-induced complication rates. Therefore, an accurate prenatal diagnosis is necessary for an appropriate perinatal management.

Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2

Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of FREM2.

VP10.12: Prenatal sonographic diagnosis of congenital high airway obstruction syndrome

A 28-year-old multiparous (gravida 3) woman at 21 weeks' gestation with previous uneventful pregnancies from a non-consanguineous partner, neither having a family history of the remarkable syndrome among first degree relatives, was referred to BACC for prenatal ultrasound screening of fetal anomaly in November of 2017. On ultrasound examination, fetal lungs were highly echogenic and markedly enlarged while the heart was compressed and the diaphragm was inverted (a, b). In addition, there were fetal ascites and oligohydramnios (c). No other anomalies were identified. The possible uncomplimentary consequence of the pregnancy was discussed with the parents. The pregnancy was terminated at the appeal of the parents. Differences between laryngeal and tracheal atresia are not feasible on ultrasound examination. Congenital high airway obstruction syndrome (CHAOS) can be diagnosed as early as in 15 weeks of gestation with transvaginal ultrasound even before the development of ascites. Treatment option for the fetuses with CHAOS includes prenatal percutaneous fetoscopic and ultrasound-guided tracheal decompression and postnatal ex utero intrapartum treatment with tracheal intubation and safe airway control. In the present case, the constellation of findings pointed towards the diagnosis of CHAOS. Chromosome analysis and supportive intervention could not be attempted due to unavailability. Supporting information can be found in the online version of this abstract Supporting Information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

VP20.10: Use of super resolution reconstruction MRI for surgical planning in a fetus with congenital high airway obstruction syndrome: a case report

VP20.10: Use of super resolution reconstruction MRI for surgical planning in a fetus with congenital high airway obstruction syndrome: a case report

International Pediatric Otolaryngology Group (IPOG): Consensus recommendations on the prenatal and perinatal management of anticipated airway obstruction

ObjectiveTo make recommendations on the identification, routine evaluation, and management of fetuses at risk for airway compromise at delivery. MethodsRecommendations are based on expert opinion by members of the International Pediatric Otolaryngology Group (IPOG). A two-iterative Delphi method questionnaire was distributed to all members of the IPOG and responses recorded. The respondents were given the opportunity to comment on the content and format of the survey, which was modified for the second round. “Consensus” was defined by >80% respondent affirmative responses, “agreement” by 51–80% affirmative responses, and “no agreement” by 50% or less affirmative responses. ResultsRecommendations are provided regarding etiologies of perinatal airway obstruction, imaging evaluation, adjunct evaluation, multidisciplinary team and decision factors, micrognathia management, congenital high airway obstruction syndrome management, head and neck mass management, attended delivery procedure, and delivery on placental support procedure. ConclusionsThorough evaluation and thoughtful decision making are required to optimally balance fetal and maternal risks/benefits.

Prenatal Diagnosis of Congenital High Airway Obstruction Syndrome due to Laryngeal Atresia.

Prenatal Diagnosis of Congenital High Airway Obstruction Syndrome due to Laryngeal Atresia.

Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report

BackgroundTracheal agenesis (TA) is a rare disorder usually diagnosed prenatally when a congenital high airway obstruction syndrome (CHAOS) is identified. We present a case of unexpected TA in a neonate without prenatal diagnosis of airway obstruction, with a difficult management at birth. Moreover, we discuss about differential diagnosis, classification and treatment issues.Case presentationA 2280 g female neonate was born at 35 week gestational age (GA) with prenatal diagnosis of aortic coarctation, polyhydramnios and diffuse hyperechogenicity of the right lung. At birth, the neonate had no audible cry, no air entry to the lungs, and hypotonia. Tracheal intubation was unsuccessful, and no visualization of the trachea was obtained when tracheostomy was attempted. Post-mortem examination showed tracheal agenesis associated with tracheoesophageal fistula and revealed no cardiologic malformations. Aortic coarctation had been suspected prenatally because of the first portion of the descendent thoracic aorta being compressed by a fibrous band connecting the proximal and distal tracheal branches. CHAOS had not developed due to the tracheoesophageal fistula (TOF).ConclusionsTA is not always diagnosed in the fetus and it may present unexpectedly making the neonate’s management at birth critical. An effective rescue temporary oxygenation may be obtained with mask ventilation or oesophageal intubation in those cases of TA associated with a TOF. We suggest to consider a fetal magnetic resonance imaging (MRI) when the association polyhydramnios/lung hyperechogenicity occurs, even in the absence of CHAOS or other malformations. Once a diagnosis is provided, the mother should be transferred to selected centres where an ex-utero intrapartum procedure (EXIT) can be attempted. Moreover, despite high mortality, different surgical management are described to improve survival.

Fetoscopic Balloon Dilation and Cricotracheal Resection for Laryngeal Atresia in CHAOS.

View Supplementary Video 1 Laryngoscope, 131:660–662, 2021

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.