Combined esophageal and duodenal atresias in a fetus with trisomy 21

Waldo Sepulveda, MD

Santiago, Chile

Case Report

A 36-year-old gravida 2 para 1 woman was referred at 23 weeks" gestation for ultrasound assessment because of the detection of abnormal findings at the second-trimester anomaly scan. A first-trimester scan at 8 weeks was in agreement with her last menstrual period and subsequent clinical course was otherwise uneventful. Except for a previous caesarean section, the obstetric and medical histories were unremarkable.

Ultrasound at 20 weeks had revealed increased amniotic fluid volume and marked distension of the stomach and a cystic area in the upper right quadrant of the fetal abdomen, which was subsequently confirmed by a follow-up scan before referral. Targeted ultrasound examination at referral demonstrated a singleton female fetus in cephalic presentation. The placenta was anterior and the amniotic fluid was increased with an amniotic fluid index of 25 cm, above the 95th for gestational age. The abdomen was enlarged owing to a marked distension of the stomach, pylorus and first portion of the duodenum (figure)s. Additional ultrasound findings included mild bilateral pleural effusion, sandal gap, brachicephaly and short long bones (femur and humerus length below 5th centile). Echocardiography ruled out associated cardiac defects.


After counseling the parents opted for prenatal karyotyping, which was performed by fetal blood sampling at the placental cord insertion. Lymphocyte culture revealed a 47,XX,+21 karyotype. The pregnancy progressed uneventfully with resolution of the pleural effusion and adequate growth intervals. However, progressive increasing polyhydramnios was noted but the parents refused any intervention including amniodrainage.

At 35 weeks, a repeat caesarean section was performed because of severe polyhydramnios and premature contractions with cervical changes. A female infant weighing 2435 g with Apgar scores of 9 and 9, at 1 and 5 min, respectively was delivered uneventfully.

External examination of the infant revealed several features of Down syndrome and a distended abdomen. During aspiration, the catheter did not pass to the stomach. A plain film revealed an airless abdomen and a contrast radiograph revealed an oesophageal atresia without tracheo-oesophageal fistula. Abdominal ultrasound confirmed duodenal atresia. On the second day of life, the infant underwent surgery and a duodenostomy was performed. Subsequent evaluation and intraoperative findings revealed that the oesophagus was absent. Only a small portion of the proximal oesophagus was present. Persistent sialorrhea made it necessary to perform an oesophagostomy on day 16. The operation for oesophageal atresia with bowel interposition is planned if the infant reaches 6 k. 

Benacerraf[i] published the same condition in chromosomally normal fetus and the pictures looked exactly the same. It seems that the detection of this finding is pathognomonic of this condition. Moreover, the presence of polyhydramnios at 20 weeks in a fetus with a suspected duodenal atresia should alert on the possibility of combined esophageal and duodenal atresias. Chitty[ii] diagnosed prenatally another case in a fetus with trisomy 21, and Peter Twining from Nottingham, UK presented a euploid case too.



[i] Estroff JA, Parad RB, Share JC, Benacerraf BR. Second trimester prenatal findings in duodenal and oesophageal atresia without tracheoesophageal fistula. J Ultrasound Med 1994;13:375-379.

[ii] Chitty LS, Goodman J, Seller MJ, Maxwell D. Oesophageal and duodenal atresia in a fetus with Down"s syndrome: prenatal sonographic features. Ultrasound Obstet Gynecol 1996;7:450-452.

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