Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS

Vanhaesebrouck, Piet; Coen, Kris De; Defoort, Paul; Vermeersch, Hubert; Goossens, Lien; Smets, Koenraad; Zecic, Alexandra; Vandaele, Sabine; Baets, Frans De

doi:10.1007/s00431-006-0134-z

Cited by 21 publications

(12 citation statements)

References 12 publications

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“…Understanding the natural history of the disease is essential. Although a few fetuses with CHAOS have been saved by emergency tracheostomy immediately after delivery, use of the EXIT procedure has most dramatically improved survival with CHAOS [3,[5][6][7][8][9][10][11][12][13][14]. The EXIT approach preserves the uteroplacental circulation to the fetus while an airway is established.…”

Section: Discussionmentioning

confidence: 99%

Predicting the severity of congenital high airway obstruction syndrome

Roybal¹,

Liechty

Hedrick

et al. 2010

Journal of Pediatric Surgery

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Section: Discussionmentioning

confidence: 99%

Predicting the severity of congenital high airway obstruction syndrome

Roybal¹,

Liechty

Hedrick

et al. 2010

Journal of Pediatric Surgery

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“…Post-mortem examination allowed for the diagnosis of a laryngomucocoele as the cause of this upper airway obstruction and the fatal outcome is a frequent event in undiagnosed CHAOS. The absence of the other echographical parameters of the triad may be explained if it is assumed that the obstruction at 30 weeks was only partial 2 , 7. Oesophageal compression by dilated airways and increased lung volume are probably the cause of polyhydramnios due to decreased ingestion of amniotic fluid 1 , 6…”

Section: Discussionmentioning

confidence: 99%

“…The majority of the cases are sporadic; the incidence unknown 2. Laryngeal atresia is the most frequent cause, followed by tracheal atresia or stenosis and laryngeal membranes or septs 1…”

Section: Introductionmentioning

confidence: 99%

Congenital laryngomucocoele: a rare cause for CHAOS

Cunha

Janeiro²,

Fernandes³

et al. 2009

Case Reports

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Congenital high airway obstruction syndrome (CHAOS) is a rare but life-threatening condition that results from the obstruction of the upper airways.We describe a female newborn, from a Grávida II, Para 0, 36-year-old woman, with a routine ultrasound at 30 weeks' gestation that showed polyhydramnios. She delivered a live-born female baby at 36 weeks without any dismorphic features but with respiratory distress. Attempts at endotracheal intubation were unsuccessful due to the presence of a mass obstructing the larynx. The reanimation process was stopped after 20 minutes. Post-mortem examination demonstrated the presence of a total occlusion of the larynx by a laryngomucocoele. Laryngocele, a congenital cyst of the larynx, occurs rarely and hardly ever as a cause of CHAOS. What is more, laryngomucocoele has not been previously reported as a cause of CHAOS. These conditions represent a neonatal emergency with reserved prognosis unless diagnosed antenatally allowing for a programmed ex utero intrapartum treatment (EXIT) by performing tracheostomy while maintaining the placental circulation.

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“…It is important to exclude associated malformations, because airway obstruction may be the expression of various monogenic abnormalities, such as Faser syndrome (renal agenesis, microphthalmia, cryptophthalmos, polydactyly and syndactyly), short rib polydactyly syndrome or chromosomal abnormalities (chromosome 5-'CriduChat' syndrome, microdeletion 22q11.2). 39 In most of the cases, CHAOS is a lethal pathology, even if diagnosed prenatally and treated. The natural prenatal history and the postnatal evolution of CHAOS is influenced by the degree of the airway obstruction.…”

Section: Congenital High Airway Obstruction Syndromementioning

confidence: 99%

Lung Malformations: Prenatal Ultrasound Diagnosis and Obstetrical Management

Iliev¹,

Dumitrascu²,

Grigore³

et al. 2014

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Purpose:We present our experience in prenatal diagnosis and obstetrical management of congenital lung malformations (CLM). Materials and methods:The diagnosis of CLM was performed during routine second and third trimester fetal morphology assess ment. The extent of the disease was established accor ding to the type, localization and size of the pulmonary lesion and the presence of fetal complications (mediastinal shift, fetal hydrops, hydramnios). Termination of pregnancy (TOP) was indicated in cases associated with extrapulmonary anomalies, untreatable cases and fetal hydrops. After delivery a pulmonary Xray and surgical examination was performed in all newborns. Results:We diagnosed 15 cases with congenital lung mal for ma tions. Of these, 9 had congenital cystic adenomatoid malfor mation (CCAM). TOP was performed in 6 cases with CCAM. Three cases had a favorable pre/postnatal evolution. Bronchopulmo nary sequestration (BPS) was diagnosed in 3 cases, all with favorable perinatal evolution. Right pulmonary agenesis was diagnosed in one case and the outcome was neonatal death. One case of congenital high airway obstruction syn drome was followed by TOP. One case of severe bilateral pul monary hy poplasia (secondary to a severe bilateral hydrothorax) resulted in neonatal death. Conclusion:Obstetrical management is established individually depending on the severity of the cases.

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Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS

Cited by 21 publications

References 12 publications

Predicting the severity of congenital high airway obstruction syndrome

Predicting the severity of congenital high airway obstruction syndrome

Congenital laryngomucocoele: a rare cause for CHAOS

Lung Malformations: Prenatal Ultrasound Diagnosis and Obstetrical Management

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