Esophageal atresia with Trisomy 18

Francesco Contarin MD

Miguel Pérez Carreño Hospital. Caracas. Venezuela.

Case report

This is a case of a 14-year-old G3 P0 who came for a regular ultrasound scan.

The ultrasound examination showed very small, almost absent stomach and the increased amount of the amniotic fluid. Our diagnosis was esophageal atresia with or without proximal tracheoesophageal fistula (type B or type C). Patient delivered at term via cesarean section and the baby died 6 days after delivery. Karyotype of the neonate performed after delivery showed Trisomy 18.

Images 1,2: Coronal and transverse view showing very small, almost absent stomach.

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Images 3,4: Images of the overlapping fingers, characteristic for trisomy 18.

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