Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome.

Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic DNA analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome.

Transvaginal Doppler assessment of fetal intracranial venous flow.

OBJECTIVE: To investigate physiologic blood-flow-velocity waveform patterns of the fetal cerebral venous system during normal pregnancies by transvaginal Doppler studies and to evaluate cases with abnormal venous-flow patterns. METHODS: Internal cerebral veins and the three dural sinuses, those of the superior sagittal sinus, vein of Galen, and straight sinus, were examined in normal cephalic-presenting fetuses of 20-40 weeks' gestation. For analysis, the venous index was defined as maximum minus minimum velocity divided by maximum velocity. Different cases with intracranial abnormalities were evaluated with emphasis on abnormal venous blood-flow patterns. RESULTS: Internal cerebral veins had pulsatile patterns with a venous index of 0.22 in 47.6% of fetuses, whereas all fetuses had pulsations in the dural sinuses. The vein of Galen had a significantly lower venous index (0.31) than the superior sagittal sinus (0.39) and the straight sinus (0.36), indicating that the amplitude of the intracranial venous pulsation might increase as the flow runs from the periphery toward the proximal portion. Significant regression lines of venous index were obtained, indicating the stability of the pulsation during pregnancy. A flat pattern of superior sagittal sinus flow was found in three cases of hydrocephalus and one of craniosynostosis. CONCLUSION: We showed the normal patterns of fetal cerebral venous blood-flow velocity and the abnormal patterns which might be associated with increased intracranial pressure. Doppler assessment of the intracranial venous system enabled us to evaluate intracranial abnormalities accompanied by increased intracranial pressure that might have prognostic clinical importance.

Transvaginal sonography of the fetal brain: detection of abnormal morphology and circulation.

AIM: To analyze the incidence, transvaginal detection age, sonographic appearance, clinical course, and outcomes of pregnancy in cases with abnormal fetal brain structure and/or circulation, and to evaluate the clinical significance of sonographic abnormalities. METHODS: Serial observation of the fetal brain and intracranial Doppler assessment by transvaginal approach at four-week intervals were performed in 306 singleton fetuses from the first trimester and 13 referral cases at our ultrasound units from January 1996 to December 1997. Detection of abnormalities was followed by subsequent serial scans every one or two weeks. RESULTS: Morphological abnormalities were found in 66 cases: open neural tube defect (9 cases), disorders of prosencephalic development (2), ventriculomegaly with cerebellar hypoplasia (1), hydrocephalus (1), craniosynostosis (1), unclassified brain anomaly (1), brain atrophy (1), isolated choroid plexus cysts (19), choroid plexus cysts with cerebellar hypoplasia (2), lateral ventricular asymmetry (26), and subependymal cyst (3). Chromosomal aberration was found in 4 cases. Artificial abortion was performed in 10 cases and fetal demise occurred in 2 cases. Isolated choroid plexus cysts, isolated ventricular asymmetry and subependymal cyst were not clinically significant. Two abnormal flow patterns of superior sagittal sinus, sharp doubled pulsatile pattern, and disappearance of normal pulsatile pattern were found in different situations. CONCLUSION: Serial transvaginal observation of the fetal brain provided evidence of hitherto unreported intracranial abnormalities: subependymal cyst, craniosynostosis, medullary kink in Chiari malformation, brain damage, and abnormal venous flows. Venous flow assessment may be of great potential in predicting fetal neurological well-being.