Key result
A female fetus with a normal karyotype developed hydrops and died at 20 weeks of gestation due to a complete auriculoventricular septal defect, non-compacted myocardium, and left isomerism.
Case Report (n=1)
This case report highlights a rare presentation of fetal hydrops associated with non-compacted myocardium and left isomerism leading to fetal demise.
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Raises awareness for lethal anomalies in left isomerism; leaves open non-compaction's independent role in fetal hydrops.
We present a case report of a pregnant woman with increased risk for trisomy 21 at first-trimester screening, assessed by ultrasonography, that was sent to our hospital. Amniocentesis was performed at 14 weeks and 2 days to obtain foetal karyotype that was normal (46,XX). At 19 weeks and 1 day, foetal hydrops associated with cardiac malformation was detected by routine scan. Foetal echocardiogram revealed a complete auriculoventricular septal defect, non-compacted myocardium, and a bradycardia of 70-90 beats per minute, which lead to the suspicion of left isomerism. Foetal death occurred at 20 weeks and 3 days. Autopsy was consistent with the prenatal diagnosis.
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Rocha et al. (2010) conducted a case report in Foetal hydrops associated with cardiac malformation (n=1). A female fetus with a normal karyotype developed hydrops and died at 20 weeks of gestation due to a complete auriculoventricular septal defect, non-compacted myocardium, and left isomerism.
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