|G3/A2 mother, consanguineous marriage. Images of 17-weeker fetus. Head is in the pelvis. Scan pictures provided are that of the heart, and at the level of the abdomen. What is the most likely diagnosis?|
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AV canal defect on 4-chamber view of heart. Fetal karyotyping was performed by cordocentesis for Trisomy 21, and was negative. Though stomach bubble was not seen on the first scan (Fig 2), it was detected on a subsequent re-scan. Patient after counseling decided to terminate the pregnancy. Autopsy confirmed all the findings. Additional truncus arteriosus was found on autopsy. Situs inversus totalis was found on autopsy (suspected on antenatal scan, in view of the fact that in a cephalic presentation, apex was pointing away from transducer).
This is one of the commonest forms of heart disease seen in prenatal
life, accounting for about 17% of cardiac anomalies, and is found usually
in 2 situations: associated with complex cardiac anomalies or associated
with Trisomy 21. When a diagnosis is made, fetal karyotyping should be
performed; prognosis depends on presence of associated cardiac or extra-cardiac