A 31-year-old woman (G2P1) was referred to our antenatal unit at 33 weeks of pregnancy due to an omphalocele and intrauterine growth restriction (IUGR) of her fetus. Her family history was not contributive.
Her previous scan at 12 weeks was normal (nuchal translucency 0.7 mm; CRL 53 mm) and so was her biochemical triple tests.
At 24 weeks, a fetal omphalocele (15 mm in diameter) and IUGR were discovered during ultrasonographic examination. Left renal cyst of 10 mm was also noted. Amniocentesis revealed normal karyotype (46, XY).
Our ultrasonographic examination was performed at 33 weeks and found following abnormalities:
- Abnormal fronto-nasal angle (100°) - Images 1, 2, 3
- Macroglossia - Image 4
- Atypically looking masculine gender (hypospadias was confirmed later) - Images 6-9;
- Thickened right cardiac ventricular wall - Images 12, 13;
- Rhizomelia and micromelia (about 3rd percentile);
- Previously described omphalocele and renal cyst had disappeared.
The baby was delivered at 35 weeks via cesarean section due to absence of fetal movements. An umbilical cord knot was found. Hypospadia and protruding fetal tongue was visible. The baby suffered with severe hypoglycemia (with slow response on fetal treatment) and respiratory distress requiring intubation. Hepatomegaly and posterior helical ear pits were also present. The association of macroglossia, hepatomegaly and hypoglycemia raised suspicion of Beckwith-Wiedemann syndrome, which was confirmed by genetic testing.
A few days later umbilical hernia with secondary intestinal occlusion has developed. The status required three subsequent surgical interventions.
Images 1, 2, 3: 33 weeks; images 1, 2 represent 2D profile of the fetus with abnormal frontonasal angle; image 3 shows 3D scan of the fetal face.
Images 4, 5: 33 weeks; fetal profile with macroglossia (image 4) and thickened prenasal edema (image 5).
Images 6, 7, 8, 9: 33 weeks; abnormal male genital (hypospadia was confirmed later).
Images 10, 11: 33 weeks; normal hands
Images 12, 13: 33 weeks; thickened right ventricular wall of the heart.