Ultrasound Obstet Gynecol 2014; 43: 717–718 Published online in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/uog.13322
Picture of the Month Prenatal diagnosis of tracheal atresia in a twin pregnancy O. SIMETKA*†‡, M. PETROS*#, E. DOLEZALKOVA*, H. KOVACOVA*, D. MATURA* and J. DVORACKOVA§ *Department of Obstetrics and Gynecology, University Hospital Ostrava, Ostrava, Czech Republic; †Faculty of Surgical Studies, University of Ostrava, Ostrava, Czech Republic; ‡Department of Obstetrics and Gynecology, Medical Faculty of Palacky University, Olomouc, Czech Republic; §Department of Pathology, University Hospital Ostrava, Ostrava, Czech Republic
Tracheal atresia is a rare congenital malformation with associated mortality approaching 100%. Here we describe typical sonographic findings and differential diagnoses, correlating them to pathological findings, in a case diagnosed at second-trimester ultrasound. A 32-year-old woman, pregnant for the second time with an uncomplicated twin pregnancy, was referred to our unit at 19 weeks’ gestation owing to abnormal ultrasound findings in one of the twins. The examination revealed bilateral and uniform hyperechogenicity of the fetal thorax (Figure 1), pulmonary hyperplasia, diaphragmatic eversion, mediastinal compression, large heart vessels, fluid-filled dilated bronchi, ascites, hydrops and polyhydramnios. These findings raised suspicion of congenital high airway obstruction syndrome (CHAOS) and led us to a working diagnosis of laryngeal atresia. The second twin exhibited no abnormalities, and its size was appropriate for gestational age. An increase in ascites was observed during the following scans (Figure 2), and the affected fetus died at 31 weeks. The second twin was well developed, and a healthy male weighing 1700 g was delivered by Cesarean section at 34 weeks’ gestation owing to spontaneous onset of labor. Postnatally, the newborn did well. Autopsy of the affected cotwin, a female weighing 1440 g, revealed enlarged lungs weighing 79 g in total (expected weight, 25 g) connected by a common bronchus. The larynx and the proximal two-thirds of the trachea were normal while the distal part of the trachea ended in a blind pouch just above the level of anticipated branching into the bronchi (Figure 3). The abdominal cavity contained 240 mL of hemorrhagic ascites. All other organs were normal. Histologically, the distal part of the trachea above the lesion was formed by cartilaginous islets and exhibited signs of tracheomalacia. The part of the trachea below the atresia was formed by vascular and neural
Figure 1 Ultrasound images at 19 weeks’ gestation in a fetus with tracheal atresia. (a) Sagittal image, showing bilateral enlarged hyperechoic lungs, diaphragmatic eversion and ascites. (b) Coronal image of the fetal chest and abdomen, showing dilated anechoic structures representing fluid-filled bronchi.
Correspondence to: Dr O. Simetka, Porodnicko - gynekologická klinika FN Ostrava, 17. listopadu 1790, 708 52 Ostrava, Czech Republic (e-mail: [email protected]) #The coauthors wish to pay respect to their former colleague, Michal Petros, who died at the age of 34 and whose talent will be remembered.
Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.
PICTURE OF THE MONTH
Simetka et al.
718
Figure 2 Sagittal ultrasound image at 30 weeks’ gestation in a fetus with tracheal atresia, showing pulmonary hyperplasia and heart compression. The liver is floating in massive ascites.
Tracheal atresia, along with other types of laryngotracheal occlusion, is a very rare birth defect. More than 50% of all cases are associated with a variety of congenital anomalies (cardiovascular, gastrointestinal and genitourinary tract malformations)1 . Tracheal atresia may also appear as part of Fraser syndrome2 , and might be considered a component of complex associations such as VACTERL and TACRD (laryngeal atresia, complex cardiac abnormalities or ventricular septal defect, radial ray defects, duodenal atresia)1 . The level of airway obstruction in tracheal atresia varies, and distal atresia with the upper half of the trachea and larynx being normal has been described2 . Tracheal atresia is usually associated with tracheoesophageal or bronchoesophageal fistula, but isolated forms have also been reported3 . The prenatal sonographic appearance of tracheal atresia manifests as bilateral uniform hyperechoic lungs and ascites2 . When bilateral hyperechoic lungs are observed, congenital cystic adenomatoid malformation type III must be considered4 . Typical CHAOS is characterized by enlarged hyperechoic lungs, fluid-filled dilated trachea and bronchi with lack of flow in the trachea during fetal breathing, compression of the heart, with or without cardiac dysfunction, flattened diaphragm and/or massive ascites5 .
References
Figure 3 Photograph of autopsy specimen from a fetus with tracheal atresia, showing that the distal part of the trachea ends in a blind pouch; note lack of a tracheoesophageal fistula.
tissue without any cartilage. The findings on autopsy met the morphological criteria of Faro tracheal agenesis type G.
Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.
1. van Veenendaal MB, Liem KD, Marres HA. Congenital absence of the trachea. Eur J Pediatr 2000; 159: 8–13. 2. Scott JN, Trevenen CL, Wiseman DA, Elliott PD. Tracheal atresia: ultrasonographic and pathologic correlation. J Ultrasound Med 1999; 18: 375–377. 3. Demircan M, Aksoy T, Ceran C, Kafkasli A. Tracheal agenesis and esophageal atresia with proximal and distal bronchoesophageal fistulas. J Pediatr Surg 2008; 43: e1–3. 4. de Hullu JA, Kornman LH, Beekhuis JR, Nikkels PG. The hyperechogenic lungs of laryngotracheal obstruction. Ultrasound Obstet Gynecol 1995; 5: 271–274. 5. Vidaeff AC, Szmuk P, Mastrobattista JM, Rowe TF, Ghelber O. More or less CHAOS: case report and literature review suggesting the existence of a distinct subtype of congenital high airway obstruction syndrome. Ultrasound Obstet Gynecol 2007; 30: 114–117.
Ultrasound Obstet Gynecol 2014; 43: 717–718.
Picture of the Month Prenatal diagnosis of tracheal atresia in a twin pregnancy O. SIMETKA*†‡, M. PETROS*#, E. DOLEZALKOVA*, H. KOVACOVA*, D. MATURA* and J. DVORACKOVA§ *Department of Obstetrics and Gynecology, University Hospital Ostrava, Ostrava, Czech Republic; †Faculty of Surgical Studies, University of Ostrava, Ostrava, Czech Republic; ‡Department of Obstetrics and Gynecology, Medical Faculty of Palacky University, Olomouc, Czech Republic; §Department of Pathology, University Hospital Ostrava, Ostrava, Czech Republic
Tracheal atresia is a rare congenital malformation with associated mortality approaching 100%. Here we describe typical sonographic findings and differential diagnoses, correlating them to pathological findings, in a case diagnosed at second-trimester ultrasound. A 32-year-old woman, pregnant for the second time with an uncomplicated twin pregnancy, was referred to our unit at 19 weeks’ gestation owing to abnormal ultrasound findings in one of the twins. The examination revealed bilateral and uniform hyperechogenicity of the fetal thorax (Figure 1), pulmonary hyperplasia, diaphragmatic eversion, mediastinal compression, large heart vessels, fluid-filled dilated bronchi, ascites, hydrops and polyhydramnios. These findings raised suspicion of congenital high airway obstruction syndrome (CHAOS) and led us to a working diagnosis of laryngeal atresia. The second twin exhibited no abnormalities, and its size was appropriate for gestational age. An increase in ascites was observed during the following scans (Figure 2), and the affected fetus died at 31 weeks. The second twin was well developed, and a healthy male weighing 1700 g was delivered by Cesarean section at 34 weeks’ gestation owing to spontaneous onset of labor. Postnatally, the newborn did well. Autopsy of the affected cotwin, a female weighing 1440 g, revealed enlarged lungs weighing 79 g in total (expected weight, 25 g) connected by a common bronchus. The larynx and the proximal two-thirds of the trachea were normal while the distal part of the trachea ended in a blind pouch just above the level of anticipated branching into the bronchi (Figure 3). The abdominal cavity contained 240 mL of hemorrhagic ascites. All other organs were normal. Histologically, the distal part of the trachea above the lesion was formed by cartilaginous islets and exhibited signs of tracheomalacia. The part of the trachea below the atresia was formed by vascular and neural
Figure 1 Ultrasound images at 19 weeks’ gestation in a fetus with tracheal atresia. (a) Sagittal image, showing bilateral enlarged hyperechoic lungs, diaphragmatic eversion and ascites. (b) Coronal image of the fetal chest and abdomen, showing dilated anechoic structures representing fluid-filled bronchi.
Correspondence to: Dr O. Simetka, Porodnicko - gynekologická klinika FN Ostrava, 17. listopadu 1790, 708 52 Ostrava, Czech Republic (e-mail: [email protected]) #The coauthors wish to pay respect to their former colleague, Michal Petros, who died at the age of 34 and whose talent will be remembered.
Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.
PICTURE OF THE MONTH
Simetka et al.
718
Figure 2 Sagittal ultrasound image at 30 weeks’ gestation in a fetus with tracheal atresia, showing pulmonary hyperplasia and heart compression. The liver is floating in massive ascites.
Tracheal atresia, along with other types of laryngotracheal occlusion, is a very rare birth defect. More than 50% of all cases are associated with a variety of congenital anomalies (cardiovascular, gastrointestinal and genitourinary tract malformations)1 . Tracheal atresia may also appear as part of Fraser syndrome2 , and might be considered a component of complex associations such as VACTERL and TACRD (laryngeal atresia, complex cardiac abnormalities or ventricular septal defect, radial ray defects, duodenal atresia)1 . The level of airway obstruction in tracheal atresia varies, and distal atresia with the upper half of the trachea and larynx being normal has been described2 . Tracheal atresia is usually associated with tracheoesophageal or bronchoesophageal fistula, but isolated forms have also been reported3 . The prenatal sonographic appearance of tracheal atresia manifests as bilateral uniform hyperechoic lungs and ascites2 . When bilateral hyperechoic lungs are observed, congenital cystic adenomatoid malformation type III must be considered4 . Typical CHAOS is characterized by enlarged hyperechoic lungs, fluid-filled dilated trachea and bronchi with lack of flow in the trachea during fetal breathing, compression of the heart, with or without cardiac dysfunction, flattened diaphragm and/or massive ascites5 .
References
Figure 3 Photograph of autopsy specimen from a fetus with tracheal atresia, showing that the distal part of the trachea ends in a blind pouch; note lack of a tracheoesophageal fistula.
tissue without any cartilage. The findings on autopsy met the morphological criteria of Faro tracheal agenesis type G.
Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.
1. van Veenendaal MB, Liem KD, Marres HA. Congenital absence of the trachea. Eur J Pediatr 2000; 159: 8–13. 2. Scott JN, Trevenen CL, Wiseman DA, Elliott PD. Tracheal atresia: ultrasonographic and pathologic correlation. J Ultrasound Med 1999; 18: 375–377. 3. Demircan M, Aksoy T, Ceran C, Kafkasli A. Tracheal agenesis and esophageal atresia with proximal and distal bronchoesophageal fistulas. J Pediatr Surg 2008; 43: e1–3. 4. de Hullu JA, Kornman LH, Beekhuis JR, Nikkels PG. The hyperechogenic lungs of laryngotracheal obstruction. Ultrasound Obstet Gynecol 1995; 5: 271–274. 5. Vidaeff AC, Szmuk P, Mastrobattista JM, Rowe TF, Ghelber O. More or less CHAOS: case report and literature review suggesting the existence of a distinct subtype of congenital high airway obstruction syndrome. Ultrasound Obstet Gynecol 2007; 30: 114–117.
Ultrasound Obstet Gynecol 2014; 43: 717–718.
