oesophageal atresia
description
this is a rare condition occurring in about 1 in 5000 births. there are six main types only two of which are associated with an absent stomach because there is no communication between the upper gut and trachea. in 80% of cases the oesophagus ends blindly and the stomach is connected to the lower end of the trachea.
diagnosis
polyhydramnios is the most likely alerting feature so the diagnosis is usually made in the third trimester. the absence of a fetal stomach should arouse suspicion that the condition exists but since the majority of cases have a stomach which connects with the trachea this sign is rare. the presence of associated anomalies should always be sought. these will include cardiovascular defects in about 30%, and anorectal and genitourinary in about 15% each. the combination of these anomalies may amount to the vater syndrome which includes vertebral, anorectal, cardiac, oesophageal anomalies, radial aplasia and single umbilical artery. karyotypic abnormalities may also exist and down syndrome has been reported.
differential diagnosis
the absence of fetal stomach is the only ultrasound feature apart from polyhydramnios. a search for the stomach elsewhere, namely in the chest, is important to exclude diaphragmatic hernia. the presence of the stomach apparently on the wrong side should also be considered as is found in dextrocardia.
sonographic features
gross polyhydramnios
absent stomach
associated anomalies – cardiac, chromosomal, vertebral, genitourinary, anorectal
associated syndromes
- apert syndrome (acrocephalo-polysyndactyly)
- charge association
- digeorge
- maternal pku effects
- oculo-auriculo-vertebral syndrome
- opitz-frias (g) syndrome
- trisomy 18
- trisomy 21
- vater/vacterl association
references
estroff ja, parad rb, share jc, benacerraf br second trimester prenatal findings in duodenal and oesophageal atresia without tracheoesophageal fistula j ultrasound med 13; 375-379
harvard ac, macdonald lm oesophageal atresia and other disorders with a similar antenatal presentation br j radiol 64; 557-558
pretorius dh, drose ja, dennis ma, manchester dk, manco-johnson ml tracheoesophageal fistula in utero. twenty two cases j ultrasound med 6 ; 509-513