CHARGE syndrome

Emmanuel Julien, M.D. Philippe Juhel, MD.

Centre hospitalier Le Mans, France.


CHARGE stands for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, ear anomalies. The diagnosis is based on the clinical findings and temporal bone imaging. There is currently only 1 gene - CHD7- known to be associated with this syndrome. CHARGE is characterized by various findings and conditions. There must be certain diagnostic major and minor criteria fulfilled to complete the diagnose.

  • Major criteria include: ocular coloboma, choanal atresia, cranial nerve anomaly, ear anomaly.
  • Minor criteria include: genitalia hypoplasia, developmental delay, cardiovascular malformation, growth deficiency, orofacial cleft, tracheoesophageal fistula, distinctive facial features.

CHARGE syndrome should include all four major criteria or three major and three minor ones.

Case report

We report a case of a CHARGE syndrome diagnosed at 22 weeks of pregnancy and confirmed by pathologist after the pregnancy was terminated. This is a G3P2 with unremarkable family or personal history. Cystic hygroma was diagnosed at the first trimester screening, NT measured 7 mm. Karyotype was normal. Ultrasound scan at 18 weeks did not show any abnormalities. On the ultrasound examination at 23 weeks the following findings were diagnosed:

  • Dextrocardia with small aorta
  • Atrial septal defect
  • Azygos vein running parallel and back to the aorta, inferior vena cava is absent
  • Small stomach, normal amount of amniotic fluid
  • Very small ear

The differential diagnosis based on the above findings was CHARGE syndrome. The patient decided for the pregnancy termination at 24 weeks based on the ultrasound findings.

Pathologist confirmed our diagnosis of the CHARGE syndrome. No chromosome abnormalities that disrupt CHD7 gene were found. He described the following findings:

  • Cardiovascular: left isomerism with dextrocardia, atrial septal defect; hypoplasia of the¬†left heart, absent inferior vena cava, azygos vein running parallel and back to the aorta
  • Head: brachycephaly, flat nose, small outer ears, posterior cleft palate, temporal bone abnormalities, absent¬†semicircular canals (based on the X-ray)
  • Brain: absence of the olfactory bulbs
  • Neck and trunk: hypoplasia of the thymus, oesophageal atresia, tracheoesophageal fistula
  • Genital hypoplasia

Images 1,2: Image 1 shows a profile of the fetus, visible corpus callosum. Image 2 shows a small ear, it only measures 14.1 mm.


Images 3,4: Images 3 shows azygos vein running back and parallel to the aorta. Image 4 shows the Doppler imaging of the aortic arch, azygos veins is posterior to the aorta.



Images 5,6: Images shows the azygos vein (blue) which is back to the aorta (red).


Images 7,8: Image 7 shows a transverse view of the fetal abdomen at the level of the stomach, note the small stomach which was later explained by the oesophageal atresia. Image 8 shows a four chamber view of the right sided heart, aorta is descending on the left, note hypoplasia of the left heart.


Images 9, 10: Images show the Doppler imaging of pulmonary veins.



Images 11,12: Image 11 shows a Doppler of the right pulmonary vein. Image 12 shows a Doppler of the left pulmonary vein.



Images 13,14: Image 14 shows a narrow aorta. Image 14 shows a pulmonary artery.



Images 15,16: Image 16 shows a spleen and small stomach (ESTOMAC, RATE = spleen) caused by a oesophageal atresia. Image 16 shows a persistent right umbilical vein.



Images 17,18: Image 17 show a hypoplastic aorta and dextrocardia. Image 18 shows the fetus, note the small ears. 


Images 19,20: Images of the fetus show a very small external ear, flat nose, short neck.



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