Case Report

Trisomy 16 and Tracheo-oesophageal fistula

Bompoula Maria- Sotiria1, Besharat Alexandros2, Pampanos Andreas3, Theodora Mariana2, Daskalakis George2, Pappa Kalliopi2

1National and Kapodistrian University of Athens, School of Medicine, Greece
21st Department of Obstetrics and Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, School of Medicine, Greece

Correspondence: Bompoula Maria- Sotiria, E – mail: sotiriamary@yahoo.gr


Abstract

We report a case of a 40-year-old woman, diagnosed in the first trimester screening with confined placental mosaicism. The result of chorionic villus sampling was trisomy 16 and sequent amniocentesis revealed a normal male karyotype (46XY). Further examinations during pregnancy showed intrauterine growth restriction in the absence of apparent anatomic anomalies. Caesarean section was performed due to fetal distress at the 32nd gestational week. The newborn presented with respiratory distress. Finally, the newborn was diagnosed with a trachea-oesophageal fistula (TOF).

Keywords: tracheo-oesophageal fistula (TOF), intrauterine growth restriction (IUGR), trisomy 16

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