Objective: The aim of this study was to establish the diagnostic accuracy of high-field magnetic resonance imaging (MRI) at 7 Tesla (T) compared with that of stereomicroscopic autopsy for assessing first trimester fetuses.Methods: Nine consecutive cases of first trimester fetuses resulting from spontaneous and therapeutic pregnancy termination were considered. The cases were divided into two groups according to gestational age: the Embryo Group with cases of nine to 10 gestational weeks (GWs) and the Fetus Group with cases of 13 GWs. The first group was scanned using three-dimensional fast imaging with steady state precession (3D FISP), and the second group was scanned using a two-dimensional (2D) turbo spin-echo high-resolution T2-weighted imaging (T2 WI) protocol. A radiologist and two embryologists interpreted the images. All cases were evaluated by invasive autopsy, with pathologist blinded to the imaging results. In total, the database included 270 items for evaluation (9 cases × 30 structures/case). Results:The global agreement between fetal high-field virtopsy and microscopic or stereomicroscopic autopsy was evaluated using 225 evaluation items visible by both methods. Overall, using microscopic examination and stereomicroscopic autopsy as the gold standard, fetal high-field virtopsy had a sensitivity of 94.6% [95% CI, 87.2-98.3] and a specificity of 97.6% [95% CI, 95-98.8]. The positive predictive value (PPV) was 93% [95% CI, 85.7-96.6], and the negative predictive value (NPV) was
Aim: Early diagnosis of cerebral congenital anomalies requires a profound knowledge of the anatomy of the developing human brain. The ganglionic eminences (GE) are crucial structures of the brain, giving rise mostly to the basal nuclei. The aim of this explorative study is to assess the GE within the embryonic and early fetal brain by using 3D transvaginal US. Material and methods: From March 2015 to May 2015, a total of 18 singleton non-malformed embryos and fetuses at 9-13 weeks of gestation were assesed in vivo by transvaginal ultrasound using a Voluson E10, BT 15 scanner (GE Healthcare, Zipf, Austria). The 3D sonography was performed routinely as the subjects were scanned. Inter-observer agreement (concordance) was calculated using the Cohen's kappa statistics. Results: At 9 gestational weeks, no GE was identified. At 10 gestational weeks the GE were identified as mere thickenings in the lateral wall of the cerebral hemispheres, well depicted by 3D transvaginal ultrasound using the HDlive rendering mode and the OmniView® software. Starting with 11 gestational weeks the GE are evident. The results of inter-observer agreement for GE identification were as follows: observed agreement Po=0.94, expected agreement Pe=0.76, kappa coefficient=0.83, which means a very good agreement between the observers. Conclusions: The GE can be clearly visualized by 3D transvaginal sonography, and especially by HDlive rendering mode. This method has become the "golden standard" for in vivo morphological studies of the embryonic and early fetal brain.
AimsA very good knowledge of human embryology is mandatory not only for the correct sonographic assessment of the developing brain, but also for better understanding the origins of congenital anomalies involving the central nervous system. 3D transvaginal sonography may be an effective technique for imaging the developing brain. The aims of this explorative study are to demonstrate the feasibility of imaging the embryonic brain between 7 and 10 weeks of gestation for clinical studies by using a 3D high-frequency vaginal ultrasound transducer and to provide a reference for the morphology of the brain in the embryonic period.Materials and methodsFour embryos of 9 mm, 17 mm, 23 mm and 31 mm crown-rump length respectively were assessed in vivo by transvaginal sonography. We gave a special attention to the embryonic brain. All patients were examined with a Voluson E10, BT 15 ultrasound scanner (GE Healthcare, Zipf, Austria), using a high-frequency 6–12 MHz/ 256-element 3D/4D transvaginal transducer. Three-dimensional sonography was performed routinely as the patients were scanned. The multiplanar display was used after selecting the best volume. The Omni view® software was used for digitally slicing the selected volumes.ResultsWe describe the morphological details of the developing brains of four embryos ranging from 7 to 10 gestational weeks. In the human embryo 9 mm CRL the hypoechogenic cavities of the three primary vesicles (prosencephalon, mesencephalon, rhombencephalon) could be observed on a sagittal section. In the human embryo 17 mm CRL the prosencephalon was divided into the median diencephalon and two telencephalic vesicles, which were partially separated by the falx cerebri. In the human embryo 23 mm CRL the cerebral hemispheres developed and they were completely separated by the falx cerebri. The choroid plexus was evident inside the lateral ventricles and the fourth ventricle. In the human embryo 31 mm CRL the ventral thalamus was evident, and the ganglionic eminence, as the precursor of the basal ganglia, was well seen on the floor of the cerebral hemispheres.ConclusionsStudies of embryology are still needed for a complete understanding of the developing brain. 3D sonography using a high-frequency vaginal ultrasound transducer is feasible for imaging the embryonic brain with an acceptable quality for clinical studies.
We present the first trimester prenatal ultrasonography and pathological assessment of a case diagnosed with limb-body wall complex (LBWC) presenting both exenchephaly and a complex thoraco-abdominal wall defect. Ectopia cordis is demonstrated with a movie showing the heart beating outside the body of the fetus after its expulsion. Also, we discuss the pathogenesis and possible etiology of LBWC and associated malformations and we provide an update of the literature of this very rare anomaly.
Fetal cardiac rhabdomyomas should trigger the awareness of a potential coexisting tuberous sclerosis complex that can lead to a poor neurological outcome. This condition is not only uncommon but can be easily unrecognized prenatally in the absence of a meticulous neurosonogram and MRI. We emphasize that careful consideration of all prenatal facilities is required to confirm the diagnosis of tuberous sclerosis complex as early as possible during pregnancy.
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