ObjectiveThe objective of the present study is to demonstrate the potential of dedicated neurosonography for the diagnosis of fetal brain involvement in tuberous sclerosis complex.MethodsIn this multicenter retrospective study of fetuses at high risk for tuberous sclerosis complex we review dedicated neurosonographic, fetal MRI and postnatal reports. The data reviewed included reason of referral, gestational age in which the cardiac rhabdomyomas were first suspected and final number of cardiac rhabdomyomas detected in the dedicated scan. We search for tuberous sclerosis complex ‐related brain involvement looking for the presence of one or more of the following findings: a) white matter lesions; b) subependymal nodules; c) cortical/subcortical tubers and d) subependymal giant astrocytoma.ResultsWe found 20 patients at risk, 19 because of the presence of cardiac rhabdomyomas and one because a deletion in chromosome 16 involving the tuberous sclerosis complex gene site. Cardiac rhabdomyomas were diagnosed at a mean gestational age of 27w2d (range 16w0d‐36w3d), the mean number of cardiac rhabdomyomas was four (range 1‐10). Brain involvement was present in 15 fetuses, in 13 cases the disease was confirmed by one or more ways: chromosomal microarray (1), exome sequencing (7), autopsy findings (4), and newborns with clinical tuberous sclerosis complex (4), sibling diagnosed with clinical tuberous sclerosis complex (1). In two cases the disease couldn't be confirmed: lost to follow up (1), autopsy not performed (1). In five cases without brain findings, exome sequencing (2) or autopsy findings (1) confirmed tuberous sclerosis complex; in the two remaining cases, exome sequencing was normal but in one of them they were five cardiac rhabdomyomas and the last case the autopsy was considered normal, representing the only false positive case.ConclusionsContrary to current literature, dedicated neurosonography appears to be effective in the diagnosis of tuberous sclerosis complex brain involvement in fetuses at risk and should be use as the first line approach. Although the number of cases where MRI was performed was small is seems that mainly in the presence of US findings the added value of MRI is low.This article is protected by copyright. All rights reserved.

Routine screening of blood donors for anti-hepatitis C virus (HCV) has been implemented in most developed countries. However, the independent efficacy of such screening has not been established in a controlled, prospective study. We tracked 478 patients transfused with anti-HCV-negative blood by first-generation enzyme-linked immunoassay (EIA) between July 1989 and May 1990 and compared the incidence of transfusion-associated hepatitis and HCV infections with that found among 280 patients transfused with blood unscreened for anti-HCV during the immediately preceding year. Of the 280 patients who had received transfusions before donors were screened for anti-HCV, 27 (9.6%) developed posttransfusion hepatitis and 1 additional patient seroconverted to anti-HCV without evidence of hepatitis, for a risk of posttransfusion HCV infection of 10.7% (28 of 262 recipients seronegative for anti-HCV before transfusion). Of the 478 patients transfused after July 1989 with blood screened for anti-HCV, only 9 (1.9%) developed posttransfusion hepatitis for a risk reduction of 80%. Seven of the 9 residual cases of hepatitis were caused by HCV (7 of 456 recipients seronegative before transfusion or 1.5%) for a risk reduction of transfusion-associated HCV infection of 86%. In retrospect, an anti-HCV positive donor was detected by second-generation immunoassay in 4 (57%) of the 7 HCV cases from the study cohort and in 19 of the 23 (83%) cases from whom all donor samples were available for testing in the historical cohort. No additional infectious donors were detected by third-generation immunoassay or serum HCV-RNA by polymerase chain reaction.(ABSTRACT TRUNCATED AT 250 WORDS)

Short oral presentation abstracts mortem (15) MRI scans were reviewed and a 20-point morphological scale was applied. The phenotypical aspects of both diseases and overlapping features were subsequently characterised and compared. Results: Among the 20 investigated features, we identified the following findings: In trisomy 13 we observed anomalies of the cranial nerves (69.2 vs. 26.1%, p = 0.017) and cortical development (78.6 vs. 19.2%, p = <0.001), while cardiovascular pathologies (46.7 vs. 80.8%, p = 0.038) occurred in trisomy 18. Both entities had a high percentage of ocular anomalies (85.7 vs. 83.3%). Conclusions: As radiologists are increasingly involved in phenotyping of genetical syndromes, the prenatal phenotypical characterisation of trisomies is the first step. MRI phenotyping of trisomies shows a higher frequency of cerebral anomalies in trisomy 13 and cardiovascular anomalies in trisomy 18. Using a proposed 20-point morphological scale, we enable radiologists to more confidently differentiate between Trisomies 13 and 18.