|* ||Department of Gynecology, Félix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France;|
|** ||Department of Gynecology, Hospital center, 96400 Mamoudzou, Mayotte island, France;|
|*** ||Department of Neonatology, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.|
A 26-year-old woman (G1P1), with negative medical history, was referred to our antenatal unit at 28 weeks of her gestation due to a polyhydramnios. Her previous ultrasonographic scans at 13 and 22 weeks were reported to be normal, but nuchal translucency was not measured and the triple test was not done.
Our ultrasonographic examination found a female fetus with polyhydramnios and a few other findings:
Hypertrophic cardiomyopathy with ventricular septal defect and hyperechoic atrioventricular valves (rigidly moving, but without insufficiency);
Dilated umbilical vein (but without agenesis of the ductus venosus);
Multiple hepatic calcifications.
An amniocentesis was done revealing normal karyotype (46, XX). Serological tests (TORCH, Parvovirus, and Chikungunya) were negative and so was the Kleihauer-Betke test. Our suspected diagnoses were a metabolic or a genetic anomaly (Noonan syndrome?).
At 33 weeks a cardiac insufficiency occurred and the pregnancy was terminated. The newborn was delivered at 33 weeks and 2 days and the prenatal findings were confirmed. Additionally an interruption of the vena cava inferior and an abnormal hepatic circulation were diagnosed. Genetic examination confirmed the diagnosis of Noonan syndrome. The baby died 60 days after delivery due to the cardiac insufficiency.
Images 1, 2: 3D images showing the fetal face (Image 1) and female gender of the fetus (Image 2). Note the characteristic features of the fetal face that can be often seen in the Noonan syndrome: downslanting palpebral fissures, low nasal bridge (epicanthal folds are slightly indicated), prominent, protruding upper lip.