Trisomy 18 (Edwards syndrome)

Case contributed by Dr Alexandra Stanislavsky


Code blue at birth. Difficulty passing NG.

Patient Data

Age: Neonate
Gender: Male

There are multiple abnormalities:

  • NG tube coiled in an upper esophageal pouch likely due to a tracheo-esophageal fistula with esophageal atresia
  • sac-like soft tissue density projected over the abdomen, suggesting an anterior abdominal wall defect
  • the heart is not enlarged nor classically "boot shaped", but with an elevated apex suspicious for an underlying cardiac anomaly
  • unusually thin, gracile ribs and long bones

Case Discussion

This is a baby with numerous morphologic abnormalities, all diagnosed at birth. Radiologically evident on this radiograph are:

  • TOF-OA
  • abdominal wall defect (confirmed omphalocele)
  • abnormal looking, thin bones

Although no specific diagnosis can be made on this baby, overall picture is of a syndromic baby.

Other findings were a perimembranous VSD on echo (note again that elevated cardiac apex), cleft lip and palate and an imperforate anus.

FISH analysis revealed Trisomy 18 (Edwards syndrome).  

Following genetic consultation, the baby was palliated.

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