Prenatal diagnosis of congenital high airway obstruction syndrome: our experience from a tertiary care center

Authors

  • Deepti Saxena Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
  • Shubha R. Phadke Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20203868

Keywords:

Congenital high airway obstruction syndrome, Echogenic lungs, Hydrops, Prenatal diagnosis

Abstract

Congenital high airway obstruction syndrome (CHAOS) is an extremely rare and life-threatening condition. It occurs due to obstruction in fetal respiratory tract and is characterized by typical ultrasonographic findings. Risk of recurrence is low, so antenatal diagnosis can help in counselling regarding risk of recurrence. A retrospective record review of all cases referred to our institution for antenatal ultrasound over a period of 5 years from January, 2014 to December, 2018 was done. Cases diagnosed as CHAOS were reviewed in detail regarding the radiological findings, information regarding delivery, fetal karyotype and postnatal/ fetal examination. Between the period of 2014 to 2018 three fetuses with CHAOS were identified. All of them had characteristic radiological features. Two of them were associated with hydrops and one fetus had oligohydramnios. All the pregnancies were terminated after antenatal diagnosis. Amniocentesis was done in 2 out of 3 cases and fetal karyotype was found to be normal. Fetal autopsy was done in one case and site of upper airway obstruction was identified. Confirmation of diagnosis by antenatal ultrasound and if possible, by post-mortem examination is essential for providing estimation of risk of recurrence to the family and genetic counselling.

Author Biographies

Deepti Saxena, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Assistant Professor, Department of Medical Genetics.

Shubha R. Phadke, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Professor and Head of Department, Department of Medical Genetics.

References

Hedrick MH, Ferro MM, Filly RA, Flake AW, Harrison MR, Adzick NS. Congenital high airway obstruction syndrome (CHAOS): a potential for perinatal intervention. J Pediatr Surg. 1994;29(2):271-4.

Roybal JL, Liechty KW, Hedrick HL, Bebbington MW, Johnson MP, Coleman BG, et al. Predicting the severity of congenital high airway obstruction syndrome. J Pediatr Surg. 2010;45(8):1633-9.

Lim FY, Crombleholme TM, Hedrick HL, Flake AW, Johnson MP, Howell LJ, et al. Congenital high airway obstruction syndrome: natural history and management. J Pediatr Surg. 2003;38(6):940-5.

Mong A, Johnson AM, Kramer SS, Coleman BG, Hedrick HL, Kreiger P, et al. Congenital high airway obstruction syndrome: MR/US findings, effect on management, and outcome. Pediatr Radiol. 2008;38(11):1171-9.

D'Eufemia MD, Cianci S, Di Meglio F, Di Meglio L, Vitale SG, Laganà AS, et al. Congenital high airway obstruction syndrome (CHAOS): discussing the role and limits of prenatal diagnosis starting from a single-center case series. J Prenat Med. 2016;10(1-2):4-7.

Kanamori Y, Kitano Y, Hashizume K, Sugiyama M, Tomonaga T, Takayasu H, et al. A case of laryngeal atresia (congenital high airway obstruction syndrome) with chromosome 5p deletion syndrome rescued by ex utero intrapartum treatment. J Pediatr Surg. 2004;39(1):25-8.

Mesens T, Witters I, Van Robaeys J, Peeters H, Fryns JP. Congenital high airway obstruction syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. Genet Couns. 2013;24(4):367-71.

King SJ, Pilling DW, Walkinshaw S. Fetal echogenic lung lesions: prenatal ultrasound diagnosis and outcome. Pediatr Radiol. 1995;25(3):208-10.

Ryan G, Somme S, Crombleholme TM. Airway compromise in the fetus and neonate: Prenatal assessment and perinatal management. Semin Fetal Neonatal Med. 2016;21(4):230-9.

Gosavi M, Kumar L, Ratnakar A, Bannur H. Congenital high airway obstruction syndrome (CHAOS): a perinatal autopsy case report. Pathol Res Pract. 2017;213(2):170-5.

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Published

2020-08-27

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Section

Case Series