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Review
. 2021 Nov 16;57(11):1253.
doi: 10.3390/medicina57111253.

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review

Tiberiu Georgescu  1   2 , Viorica Radoi  1   2 , Micaela Radulescu  1 , Aurora Ilian  3 , Oana Daniela Toader  1   2 , Lucian G Pop  1 , Nicolae Bacalbasa  2
Affiliations
Review

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review

Tiberiu Georgescu et al. Medicina (Kaunas). .

Abstract

Tracheal atresia is an extremely rare condition whereby a partial or total obstruction of the trachea is seen. It is almost always lethal, with just a handful of cases that ended with a good outcome. In this study we report on a 15-week male fetus, diagnosed with hyperechogenic lungs, midline heart position and inverted diaphragm. Sonographic findings suggest congenital High Airway Obstruction Syndrome (CHAOS) An ultrasound scan and fetal MRI were not able to point out the exact obstruction level. In spite of extensive counselling, the parents opted to carry on with the pregnancy. Fetal demise was noted on a scan at 19 weeks gestation. After the elective termination of pregnancy, a post-mortem examination showed partial tracheal atresia with no other anomalies. Despite technological progress in CHAOS syndrome, a precise diagnosis and accurate prognosis remain elusive.

Keywords: fetal demise; hydrops; tracheal atresia.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Heart (arrow) and hyperechogenic lungs (arrowhead) on scan.
Figure 2
Figure 2
Compressed heart on MRI and ultrasound scan 16 weeks (arrow).
Figure 3
Figure 3
Inverted Diaphragm on ultrasound scan and on RMI (arrow).
Figure 4
Figure 4
Gross aspect of the dissected cardiothoracic autopsy specimen in anterior view, showing opened distal trachea at the atretic level (black arrow). No bronchoesophageal fistula was detected.
Figure 5
Figure 5
Gross aspect of the dissected cardiothoracic autopsy specimen in anterior view, showing imperforation level of the tracheal lumen, before opening (arrow).
Figure 6
Figure 6
Histopathological aspect of the trachea with open lumen, above the obstructive level, composed of hyaline cartilage, tracheal mucosa, trachealis muscle and longitudinal muscle—behind the trachealis (H.E., 10×).
See this image and copyright information in PMC

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Supplementary concepts