Discoveries and Data: Specific Conditions



About 1 in 3550 babies is born with tracheo-esophageal fistula and/or esophageal atresia.

bullet-3512934 About 12% have esophageal atresia, where the upper and lower ends of the esophagus (swallowing tube normally running from the mouth to the stomach) are not connected.
bullet-3512934 70% have tracheo-esophageal fistula with esophageal atresia. In this case, the trachea (breathing tube running from the mouth to the lungs) connects to a section of the esophagus, usually the lower segment.
bullet-3512934 About 18% have tracheo-esophageal fistula alone—both tubes are intact but are connected to one another.


These related conditions are due to incomplete division of the respiratory and upper digestive tracts, a process that normally occurs at 4-5 weeks gestation.

Prenatal ultrasound sometimes identifies excess amniotic fluid, which accumulates because the fetus cannot swallow properly. At birth, infants have life-threatening breathing or swallowing difficulties (depending on the configuration of the trachea and esophagus) and require surgery.

About 3/4 of affected children survive to age 1; deaths are often due to associated birth defects. The lifetime cost for medical treatment, educational services and lost productivity averages $145,000.


Over 2/3 of babies with tracheo-esophageal defects have other birth defects or chromosome abnormalities. Many fit within the spectrum of the VATER or VACTERL associations—combinations of defects occurring more frequently than expected. The VATER association is named for Vertebral/rib defects, Anal atresia, Tracheo-Esophageal fistula, Radial and Renal defects; adding Cardiac and Limb defects forms the VACTERL association.

bullet-3512934 Of babies with associated birth defects, 88% had those described in the VACTERL association: 40% had 1, 36% had 2, 16% had 3 and 9% had 4 or more.
bullet-3512934 The most common defects were heart, vertebral and kidney abnormalities.
bullet-3512934 18% of infants with tracheo-esophageal defects had a single umbilical artery (compared to only 1.6% of infants with other types of birth defects).
bullet-3512934 About 1 in 10 had chromosome defects, mostly trisomy 18 or Down syndrome. Chromosome defects were more common in esophageal atresia than in tracheo-esophageal fistula.