BACKGROUND AND PURPOSE: Ganglionic eminence abnormalities on fetal MR imaging are associated with cerebral malformations. Their presumed genetic basis and associated postnatal outcomes remain largely unknown. We aimed to elucidate these through a multicenter study. MATERIALS AND METHODS:Between January 2010 and June 2020, seven hospitals in 2 countries performing fetal MR imaging examinations identified fetal MR imaging studies demonstrating ganglionic eminence enlargement, cavitation, or both. Cases with no genetic diagnosis, no whole exome sequencing, or no outcome of a liveborn child were excluded. Head size was classified as large (fronto-occipital diameter . 95th centile), small (fronto-occipital diameter ,5th centile), or normal.RESULTS: Twenty-two fetuses with ganglionic eminence abnormalities were identified. Of 8 with large heads, 2 were diagnosed with MTOR mutations; 1 with PIK3CA mutation-producing megalencephaly, polymicrogyria, polydactyly, hydrocephalus (MPPH) syndrome; 3 with TSC mutations; 1 with megalencephaly capillary malformation syndrome; and 1 with hemimegalencephaly. Cardiac rhabdomyoma was present prenatally in all cases of TSC; mutation postaxial polydactyly accompanied megalencephaly capillary malformation and MPPH. Of 12 fetuses with small heads, 7 had TUBA1A mutations, 1 had a TUBB3 mutation, 2 had cobblestone lissencephaly postnatally with no genetic diagnosis, 1 had a PDHA1 mutation, and 1 had a fetal akinesia dyskinesia sequence with no pathogenic mutation on trio whole exome sequencing. One of the fetuses with a normal head size had an OPHN1 mutation with postnatal febrile seizures, and the other had peri-Sylvian polymicrogyria, seizures, and severe developmental delay but no explanatory mutation on whole exome sequencing.CONCLUSIONS: Fetal head size and extracranial prenatal sonographic findings can refine the phenotype and facilitate genetic diagnosis when ganglionic eminence abnormality is diagnosed with MR imaging.
Uterine scarring increases the risk of uterine rupture during labour, which can result in significant maternal and fetal morbidity and mortality. There is insufficient evidence for a clear recommendation on the safety of vaginal delivery in the context of a patient with both a uterine perforation and a previous lower uterine segment caesarean section. We present the case of a woman with a history of one previous caesarean section and uterine perforation with a uterine manipulator, who subsequently had an uncomplicated normal vaginal delivery.
Radiation-induced osteogenic sarcoma is recognized as a long-term complication of radiation therapy. The authors report a case of rib osteosarcoma which developed after successful treatment of adenocarcinoma of the lung.
Introduction: Fetal dural sinus malformation is a rare but important finding during pregnancy as it has the potential for significant complications.Methods: Here we present a case of fetal dural sinus malformation and review the current literature relevant to this condition. Results: We present the case of a 33-year-old woman who had fetal dural sinus malformation containing thrombus diagnosed at morphology ultrasound and confirmed on fetal magnetic resonance imaging (MRI). Serial ultrasounds demonstrated the sinus to reduce significantly in size over the course of the pregnancy. The woman delivered a healthy, term baby and there was no evidence of any neurological compromise in the early neonatal period. Discussion: This case is in keeping with a recent systematic review, which identified 78 previous cases of fetal dural sinus thrombosis and reported good outcomes in most cases. Conclusion: It therefore appears reasonable, in most cases of isolated dural sinus malformation, to monitor the progress of the lesion and continue managing the pregnancy as usual.
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