Answer to the case of the week # 520
June 25, 2020 - July 16, 2020
Dr Ho F.1
, Dr Cuillier F.2
, Dr Dospeux J. 2
, Dr Abossolo T.2
, Dr J-L Alessandri.3
, Dr Fernandez C4
1. Radiologist, private sector, 97400 Saint-Denis, Reunion Island, France.
2. Department of Obstetrics, Felix Guyon Hospital, Reunion Island, France.
3. Department of Paediatrics, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France.
4. Department of Pathology, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France.
This 40-year-old pregnant patient was referred to our hospital for multiple fetal anomalies. Down syndrome screening was normal. Her personal history was marked by an uncontrolled diabetes mellitus which existed before pregnancy. Our US examination between 28 to 32 weeks of gestation revealed the following anomalies.
We also performed a fetal CT scan at 28 weeks of gestation looking for additional bone anomalies anda fetal MR examination looking for additional CNS and visceral abnormalities.
Images 1-6 and videos 1-3: US examination revealed a male fetus with normal estimated fetal weight and roughly normal biometry, a bilateral cleft involving both lip and palate, normal ear, a double inlet single ventricle (2 atrioventricular valves normally inserted associated with an extended VSD, leading to a single ventricle). Both outflow tracts were malposed but not obstructed (not shown). Spinal examination was difficult and non-conclusive in US. We supposed it could be a CHARGE syndrome.