In fetuses with normal lungs, FLV distribution against gestational age is easily assessed in utero with fast spin-echo T2-weighted MR imaging. These preliminary findings illustrate the potential for comparing FLV measurements in fetuses at risk of lung hypoplasia with normative values.
Fetal intracranial tumors are rare. The diagnosis is generally made on histology after birth. The aim of this study was to analyze clinical and imaging data in a series of fetal intracranial tumors and emphasize the findings that may help approach the diagnosis antenatally. We retrospectively analyzed imaging and clinical findings in 27 cases of fetal intracranial tumors assessed by ultrasound (27/27) and MR imaging (24/27). A histological diagnosis was always obtained. Main diagnoses included 15 germinal tumors (13 teratomas), 4 glial tumors, 2 craniopharyngiomas and 3 hamartomas. Average gestational age at diagnosis was 27 weeks for teratomas, 21 weeks for hamartomas and 34 weeks for glial tumors. All tumors but one were supra tentorial, and the lesion extended in the posterior fossa in two teratomas. A heterogeneous pattern, which was more frequently seen in teratomas, was better visualized by MR than US imaging. In addition, in two cases of teratomas, MR imaging better assessed the extension of the tumor. Teratomas and gliomas are the most frequent brain tumors in the fetus. US and MR imagings appear complementary in the prenatal assessment of these lesions.
Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases with severe cervical spinal canal narrowing documented by radiography, magnetic resonance imaging (MRI), and autopsy. In all, nine cases of CDPX1 with severe cervical spinal cord compression have now been described. Because these cases account for a large proportion of all reported CDPX1 cases, we believe that an antenatal suspicion of CDPX1 should lead to genetic counseling and to investigations for spinal cord compression. After birth, this complication must be routinely anticipated, and we suggest spinal MRI in all CDPX1 infants. Unless spinal cord compression is confidently ruled out, we recommend that these newborns receive the same care as trauma patients suspected of craniocervical junction disruption.
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