Objective To compare the diagnostic rate and accuracy of 3‐Tesla (T) postmortem magnetic resonance imaging (PM‐MRI) and postmortem ultrasound (PM‐US) in an unselected fetal population. Methods We performed prospectively, in a blinded manner, 3‐T PM‐MRI and PM‐US on 160 unselected fetuses at 13–41 weeks of gestation. All imaging was reported according to a prespecified template, for five anatomical regions: brain, thorax, heart, abdomen and spine. The rates of non‐diagnostic results for PM‐US and PM‐MRI were compared and, for results that were diagnostic, we calculated sensitivity, specificity and concordance rates for each anatomical region, using conventional autopsy as the reference standard. Results 3‐T PM‐MRI performed significantly better than did PM‐US overall and in particular for fetuses ≥ 20 weeks' gestation. Specifically, the non‐diagnostic rates for PM‐MRI vs PM‐US were 4.4% vs 26.9% (7/160 vs 43/160; P < 0.001) for the brain, 5.2% vs 17.4% (8/155 vs 27/155; P < 0.001) for the thorax, 3.8% vs 30.6% (6/157 vs 48/157; P < 0.001) for the heart and 3.2% vs 23.6% (5/157 vs 37/157; P < 0.001) for the abdomen. For the spine, both techniques showed an equally low non‐diagnostic rate. When both postmortem imaging techniques were diagnostic, they had similar accuracy, with no difference in sensitivity or specificity, and similar concordance with autopsy (PM‐US, 79.5–96.5%; PM‐MRI, 81.6–99.1%). Conclusions PM‐MRI performed significantly better than PM‐US in this unselected population, due mainly to a lower non‐diagnostic rate. PM‐MRI should remain the first‐line imaging investigation for perinatal autopsy, but PM‐US could be considered if MRI is not available, albeit with a higher non‐diagnostic rate. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Congenital hydrocephalus is a potentially devastating, highly heterogeneous condition whose genetic subset remains incompletely known. We here report a consanguineous family where three fetuses presented with brain ventriculomegaly and limb contractures, and shared a very rare homozygous variant of KIDINS220, consisting of an in-frame deletion of three amino acids adjacent to the fourth transmembrane domain. Fetal brain imaging and autopsy showed major ventriculomegaly, reduced brain mass, and with no histomorphologic abnormalities. We demonstrate that binding of KIDINS220 to TrkA is diminished by the deletion mutation. This family is the second that associates a KIDINS220 genetic variant with human ventriculomegaly and limb contractures, validating causality of the gene and indicating TrkA as a likely mediator of the phenotype.

Invasive fungal infections are a major cause of mortality among solid organ transplant recipients. Scopulariopsis species and their teleomorph Microascus are molds found in soil and decaying organic matter. We report here the case of a woman who underwent bilateral lung transplantation for severe emphysema. On day 25 after transplantation, endobronchial green-black lesions were detected during routine endoscopy. Endobronchial swabs, biopsies, and bronchoalveolar lavage samples were positive for Microascus cirrosus. This fungal infection developed despite voriconazole given for previous persistent invasive aspergillosis. Treatment consisted of a combination of antifungal medication (voriconazole, terbinafine, amphotericin B, and caspofungin) and endoscopic resection of necrosed bronchial mucosa. A favorable clinical outcome was achieved after 7 weeks of treatment. Seven cases of Scopulariopsis/Microascus infection have been previously described in solid organ transplant recipients. Only two survived after treatment with an antifungal combination therapy including echinocandins, posaconazole, and terbinafine. In immunocompromised patients, infection by Microascus species is a rare but life-threatening event because of innate resistance to most common antifungal drugs. Our patient was successfully cured by combined therapy including intravenous voriconazole and caspofungin, oral terbinafine, and inhaled voriconazole and amphotericin B administered for 7 weeks in association with iterative endoscopic debridement to reduce fungal inoculum.

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