Long-term outcomes after fetal therapy for congenital high airway obstructive syndrome

Division of Pediatric Surgery and Fetal Treatment Center, Department of Surgery, University of California,Box 0570, San Francisco, CA 94143-0570, USA.
Journal of Pediatric Surgery (Impact Factor: 1.39). 06/2012; 47(6):1095-100. DOI: 10.1016/j.jpedsurg.2012.03.015
Source: PubMed


Congenital high airway obstructive syndrome (CHAOS) is a rare and devastating condition that is uniformly fatal without fetal intervention. We sought to describe fetal treatment and long-term outcomes of CHAOS at a single referral center.
The medical records of patients with fetal CHAOS evaluated at our center between 1993 and 2011 were reviewed. Maternal history, radiographic findings, antenatal management, and postnatal outcomes were compared.
Twelve fetuses with CHAOS were identified. Eleven had concomitant hydrops at diagnosis. Six were electively terminated, and 2 had intra- or peripartum demise. Four patients underwent fetal intervention. Two underwent delivery via ex utero intrapartum treatment (EXIT) procedure with tracheostomy placement only, and 2 underwent fetal bronchoscopy with attempted wire tracheoplasty followed by EXIT with tracheostomy at delivery. All 4 patients who underwent EXIT were alive at last follow-up. One patient was ventilator and tracheostomy free and feeding by mouth.
Long-term and tracheostomy-free survival is possible with appropriate fetal intervention even in the presence of hydrops. Fetal intervention earlier in pregnancy may improve long-term outcomes, but patient selection for intervention remains challenging. Magnetic resonance imaging may help select those patients for whom fetal intervention before EXIT delivery may be beneficial.

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  • Anales de Pediatría 08/2012; 77(4):223-5. DOI:10.1016/j.anpedi.2012.07.006 · 0.83 Impact Factor
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    ABSTRACT: Congenital high airway obstruction sequence (CHAOS) has traditionally been defined as airway obstruction with ultrasound evidence of distal airway dilatation, expanded lungs, ascites, and hydrops. It can result from aplasia or intrinsic obstruction to the formation of the upper airway (larynx and trachea) during development. CHAOS is commonly sporadic and there is no known causative gene. In this comprehensive review on CHAOS, we examined 117 reported cases of this sequence and describe a new case. Malformations in addition to high airway obstruction were present in 64/118 (54.2%) of patients. The most frequent anomalies affected the digits and musculoskeletal system, but there was no distinct phenotype or characteristic dysmorphic appearance associated with CHAOS. The ex utero intrapartum therapy (EXIT) procedure has greatly improved survival for these patients and 36/118 (30.5%) were alive at the time of reporting. Only 2 patients out of 12 who underwent laryngotracheoplasty were tracheostomy-free at the time of their reporting. Six out of 13 were able to produce some speech. Our review provides valuable information on associated anomalies and survival in this complex sequence. The phenotypic variability seen in this review of patients makes it likely that the causes of CHAOS are genetically heterogeneous. © 2012 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 12/2012; 158A(12). DOI:10.1002/ajmg.a.35643 · 2.16 Impact Factor
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    ABSTRACT: Objective: Congenital high airway obstruction syndrome (CHAOS) normally has a dire prognosis due to laryngeal atresia and association with other anomalies. However, rare cases with an isolated tracheal membrane have been described. We assessed systematically the larynx and vocal cords in fetuses with CHAOS, with the goal of identifying such cases and attempting fetoscopic deobstruction. Methods: Between 2008 and 2012, 7 cases of CHAOS were referred to our institution. The ultrasonographic aspect of the larynx and trachea was assessed. We report the ultrasound findings, necropsy findings of 6 cases and perinatal outcome in 1 case undergoing therapy. Results: In 6 cases, laryngeal atresia was presumed by ultrasound and confirmed by necropsy after termination of pregnancy. In 1 case, normal appearance of the vocal cords led to suspicion of a possible isolated tracheal web completely occluding the trachea. Fetoscopy confirmed the finding, thus the membrane was perforated. Lung size normalized and hydrops resolved. A normal fetus was delivered at term, requiring no respiratory support. At 9 months of age, the infant showed a normal laryngoscopy and was developing well. Conclusions: Systematic ultrasound assessment of the vocal cords can be performed in fetuses with CHAOS. We report the first case of long-term intact survival after fetoscopic airway deobstruction.
    Fetal Diagnosis and Therapy 07/2013; 34(2). DOI:10.1159/000350697 · 2.94 Impact Factor
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