Introduction: The second trimester ultrasound remains an important screening tool for detecting fetal abnormalities. This pictorial guide for the second trimester ultrasound is designed to assist practitioners to produce a high quality diagnostic survey of the fetus by demonstrating and describing recommended images. Methods: Each image is discussed in detail and has an associated drawn line diagram to aid in the identification of the important features of that image. There is a description of the salient landmarks and relevant measurements. Result: The authors hope this article may act as a useful guide to all practitioners performing second trimester ultrasounds.
Purpose To evaluate differences in diagnostic yield of intra-uterine foetal (iuMR) and post-mortem MRI (PMMR) for complex brain malformations, using autopsy as the reference standard. Methods In this retrospective, multicentre study spanning 2 years, we reviewed 13 terminated singleton pregnancies with a prenatal ultrasound finding of complex foetal cerebral abnormalities, referred for both iuMR and PMMR. The iuMR and PMMR studies of the brain were reported independently by two groups of radiologists, blinded to each other’s reports. Descriptive statistics were used to compare differences in intracranial abnormalities with autopsy (and genetic testing, where present) as reference standard. Results The median gestational age at termination was 24.6 weeks (IQR 22–29) with median time between delivery and PMMR of 133 h (IQR 101–165). There was full concordance between iuMR and PMMR findings and autopsy in 2/13 (15.3%) cases. Partial concordance between both imaging modalities was present in 6/13 (46.2%) and total discordance in the remainder (5/13, 38.5%). When compared to autopsy, PMMR missed important key findings specifically for neuronal migration and cerebellar anomalies, whereas iuMR appeared to overcall CSF space abnormalities which were less crucial to reaching the final overall diagnosis. Conclusions iuMR should be performed to improve foetal phenotyping where there is a prenatal ultrasound for complex foetal brain abnormalities. Reliance on PMMR alone is likely to result in misdiagnosis in a majority of cases. Electronic supplementary material The online version of this article (10.1007/s00234-019-02218-9) contains supplementary material, which is available to authorized users.
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.
Objective: To assess accuracy of and interobserver agreement on multiparametric MR findings to distinguish uterine leiomyoma (LM) from uterine leiomyosarcoma (LMS) and soft tissue tumour of unknown malignant potential. Methods: Inclusion criteria: All females over 18 years with least one uterine mass measuring 5 cm or more in at least one of the three standard orthogonal dimensions on MR with histopathological confirmation of LM, LMS, or soft tissue tumour of unknown malignant potential (STUMP) in the 3 months following MR. Patients with LMS were drawn from a larger cohort being assessed for MR-guided focussed ultrasound (MRgFUS) suitability. Image evaluation: Assessed variables were: lesion margin, margin definition, T2 signal homogeneity, >50% of lesion with T2 signal brighter than myometrium, haemorrhage, restricted diffusion, contrast enhancement (CE), CE pattern, local lymphadenopathy and ascites. Results: 32 LM, 10 LMS and 1 STUMP were evaluated. Ill-defined (p-value = 0.0003–0.0004) or irregular (p = 0.003–0.004) lesion margin, T2 hyperintensity >50% (p = 0.001–0.004), and peripheral CE (p = 0.02–0.05) were significantly more common in LMS/STUMP than LM for both radiologists. 10/11 (Reader 2) and 11/11 (Reader 1) LMS/STUMP displayed restricted diffusion but so did 63–80% of LM. Agreement was greatest for margin characteristics (κ = 0.73–0.81). Conclusion: Irregular/ill-defined lesion margin best distinguished LMS/STUMP from LM with good interrater reliability. Advances in knowledge: Assessment of agreement regarding MR parameters distinguishing LM from LMS and STUMP has not previously been undertaken in a cohort including a large number of patients with LMS. This will help inform evaluation of females considering minimally invasive LM treatment.
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