Cuillier F, MD*, Coignard JP, MD**, Ranjatoelina H, MD***
* Dept of Obstetrics and Gynecology, Hôpital Félix Guyon, Saint-Denis ** Sonographer, Bourbon Avenue, Saint-Andre *** Dept Fetopathology, Saint-Pierre - Reunion Island. France.
The diagnosis of lethal fetal abnormalities might be performed as soon as possible to reduce maternal morbidity due to termination. These high-resolution images obtained by vaginal scans can better visualize the developing fetus during the first trimester. Exencephaly and anencephaly are incompatible with postnatal life and it can be diagnosed easily during the end of the first trimester. Nevertheless, associated anomalies can also be found.
Case report: This is a 35-year-old woman, G3P2, presented in our antenatal unit at 9 weeks for a detailed scan. The sonographer diagnosed an abnormal cephalic pole at 8 weeks. There was no significant past family history of genetic or structural abnormalities. The first scan was done at 8 weeks. Routine abdominal and then transvaginal scans confirmed the gestational age (crown-rump length of 25 mm). The skull and the choroid plexus were not identified. An exencephaly and a omphalocele were suspected. At 11 weeks, the diagnosis was confirmed. The right hand seemed normal, but the left hand seemed abnormal with distortion. We could not also see the outline of the spine. The left leg seemed normal. The finding of cranial and spine anomalies were discussed with the couple. They decided for the interruption of pregnancy, but at 12 weeks, the fetus died. An amniocentesis was performed just before expulsion (46 XY karyotype).
In the pathological examination, the diagnosis of acrania with anencephaly was identified. There was also a complete cervico-dorso-lombo rachischisis. A omphalocele was seen (15 X 10 mm), with liver and gut inside. Otherwise, there was right convex torsion of the cervical skeleton. The left superior member was in an abduction position. The final diagnosis was spondylo-thoracic dysostosis (Jarcho-Levin syndrome), lethal form, associated with a neural tube defect, an abnormal vertebral segmentation and omphalocele. This syndrome has an autosomal recessive inheritance, so there is a recurrence risk of 25% in the next pregnancy.
Sagittal and coronal views at 9 weeks. Note the irregular neural tissue with absent cranium.