Practical obstetrics info for your women's healthcare practice

Duodenal Atresia – When the “Double Bubble” is Observed on Fetal Ultrasound

WHAT IS IT?

Duodenal atresia results from failure of recanalization of the duodenum after the 7th week of gestation due to an ischemic event or genetic factors.

The classic finding on ultrasound  is the “double bubble sign” which is due to dilated proximal duodenum and stomach associated with lack of bowel gas in the distal intestine.

  • The incidence of duodenal atresia is 1/5000 – 1/10,000 live births
  • Polyhydramnios is present in 80% of cases of duodenal atresia
  • Trisomy 21 / Down syndrome is present in 25-40% of cases
  • Duodenal atresia can be associated with other congenital anomalies including:
    • VATER (vertebral defects, anal anomalies, esophageal atresia and renal anomalies)
    • Malrotation
    • Annular pancreas
    • Biliary tract anomalies
    • Cardiac anomalies
    • Mandibulofacial anomalies

KEY POINTS:

  • When detected, refer for
    • Fetal echocardiogram
    • Genetics consultation
      • ACOG guidance recommends offering invasive testing using microarray in the setting of fetal structural anomalies seen on prenatal ultrasound
    • Pediatric surgery consultation
  • Long term prognosis of isolated duodenal atresia is good, with 90% survival after surgery  

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Learn More – Primary Sources:

Small Bowel Congenital Anomalies: A Review and Update

ACOG Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders

Detection Rate and Sonographic Signs of Trisomy 21 Fetuses at 14-17 Weeks of Gestation

Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies

Locate a Genetic Counselor or Genetics services:

Genetic Services Locator-ACMG

Genetic Services Locator-NSGC

Genetic Services Locator-CAGC

Locate a Maternal Fetal Medicine Specialist

Maternal Fetal Medicine Specialist Locator-SMFM