Truncus arteriosus communis: report of three cases and review of literature

Background: Truncus arteriosus communis (TAC) is a congenital heart defect in which the physiologic arterial common trunk was not divided into aorta and pulmonary artery trunk.Objectives: In this paper, we report on three observed cases from which we looked for (in conjunction with literature review) the different causes of TAC many of which have genetic origins.Methods: We collected three clinical files of fetuses having a TAC. Two of them were examinated after a medical termination of pregnancy motivated by severe cardiopathy. The malformation had been diagnosed based on different techniques: echocardiography, skeletal radiography, arteriography, fetal autopsy, karyotype and fluorescence in situ hybridization (FISH).Results: Imaging and fetopathological examination revealed the presence of TAC type 3 and 4 in the Van Praaghs classification. FISH analysis showed a 22q11.2 deletion in one fetus in favour of Digeorge syndrome. The karyotype analysis performed in two cases was normal.Conclusion: Truncus arteriosus is a rare pathology caused by numerous etiologies from which many of them have genetic origin. This malformation can be diagnosed early during prenatal period. Postmortem fetopathological examination allows a better diagnosis approach and eventually a genetic counseling in recurrent cases such as case of consanguinity.Keywords: Truncus arteriosus, conotruncal heart malformation, congenital heart defect, genetic etiologies

Immunohistochemical study of the phenotypic change of the mesenchymal cells during portal tract maturation in normal and fibrous (ductal plate malformation) fetal liver

International audienceBACKGROUND: In adult liver, the mesenchymal cells, portal fibroblasts and vascular smooth muscle cells can transdifferentiate into myofibroblasts, and are involved in portal fibrosis. Differential expression of markers, such as alpha-smooth muscle actin (ASMA), h-caldesmon and cellular retinol-binding protein-1 allows their phenotypic discrimination. The aim of our study was to explore the phenotypic evolution of the mesenchymal cells during fetal development in normal liver and in liver with portal fibrosis secondary to ductal plate malformation in a series of Meckel-Gruber syndrome, autosomal recessive polycystic kidney disease and Ivemark's syndrome. RESULTS: At the early steps of the portal tract maturation, portal mesenchymal cells expressed only ASMA. During the maturation process, these cells were found condensed around the biliary and vascular structures. At the end of maturation process, only cells around vessels expressed ASMA and cells of the artery tunica media also expressed h-caldesmon. In contrast, ASMA positive cells persisted around the abnormal biliary ducts in fibrous livers. CONCLUSION: As in adult liver, there is a phenotypic heterogeneity of the mesenchymal cells during fetal liver development. During portal tract maturation, myofibroblastic cells disappear in normal development but persist in fibrosis following ductal plate malformation

Analyse morphologique, immunophénotypique et ultrastructurale des sarcomes développés par les souris knock-in CDK4 R24c

BORDEAUX2-BU Santé (330632101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Occupational Exposure to Ultrafine Particles and Placental Histopathological Lesions: A Retrospective Study about 130 Cases

International audienceUltrafine particles (UFPs) are particles smaller than 100 nanometers that are produced unintentionally during human activities or natural phenomena. They have a higher biological reactivity than bigger particles and can reach the placenta after maternal exposure. One study has shown an association between maternal occupational exposure to UFPs and fetal growth restriction. Yet few studies have focused on the effects of UFP exposure on placental histopathological lesions. The aim of this study was to investigate the association between maternal occupational exposure to UFPs and histopathological lesions of their placenta. The analyses were based on data from the ARTEMIS Center. A job-exposure matrix was used to assess occupational exposure to UFPs. The histopathological placental exam was performed by two pathologists who were blinded to the exposure of each subject. The examination was conducted in accordance with the recommendations of the Amsterdam consensus. The study sample included 130 placentas (30 exposed, 100 unexposed). Maternal occupational exposure to UFPs during pregnancy is significantly associated with placental hypoplasia (the phenomenon affected 61% of the exposed patients and 34% of the unexposed ones, p < 0.01). Further research is needed to explain its pathophysiological mechanisms

Incidence of obstetrical thrombotic thrombocytopenic purpura in a retrospective study within thrombocytopenic pregnant women. A difficult diagnosis and a treatable disease

International audienceBackgroundThrombotic thrombocytopenic Purpura (TTP) defined as ADAMTS-13 (A Disintegrin And Metalloprotease with ThromboSpondin type 1 domain 13) activity <10 % is a rare aetiology of thrombocytopenia during pregnancy, although the precise incidence is unknown. During pregnancy, the diagnosis of TTP is crucial as it has high feto-maternal morbidity-mortality and requires urgent plasma exchange. The purpose of this study was to assess the incidence of TTP retrospectively and to describe case presentations and follow-up.MethodsA monocentric retrospective study (2008–2009) was conducted among pregnant women followed in a tertiary care obstetrical unit who experienced at least one episode of severe thrombocytopenia (platelets ≤75 G/L) during 2008 and 2009. In cases of uncertain aetiology of thrombocytopenia, ADAMTS-13 activity was assessed by the full length technique.ResultsAmong 8,908 deliveries over the 2 year period, 79 women had a platelet count nadir ≤75 G/L. Eighteen had a known aetiology of thrombocytopenia and 11 were lost to follow-up. Among 50 remaining patients, ADAMTS-13 activity was undetectable (<5 %) in 4, consistent with the diagnosis of TTP. Platelet count spontaneously normalized in 3 patients after delivery. None presented focal cerebral involvement. Three of the four, who were primipara patients, had a sustained severe deficiency in the absence of anti-ADAMTS-13 antibodies, and ADAMTS-13 gene sequencing indicated a constitutive deficiency. The fourth, a multipara patient, had an acquired, auto-immune TTP. Placental pathology in the three primipara patients showed severe and non-specific ischemic lesions. Two patients lost their babies shortly after birth. In subsequent pregnancies in these two patients, prophylactic plasma infusion initiated early with increasing volume throughout pregnancy prevented TTP relapse, improved placental pathology, and led to normal delivery.ConclusionsThe prevalence of TTP among thrombocytopenic pregnant women is high, up to 5 % in a tertiary unit. Platelet count normalization after delivery does not eliminate TTP. Clinicians should be aware of TTP during pregnancy, and, even if assessed retrospectively, ADAMTS-13 assessment is of particular importance for identifying patients with congenital TTP. In these patients, preventive plasma infusion and/or exchange can dramatically improve foetal prognosis, resulting in successful childbirth

Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data

Abstract Objectives The antenatal phenotypic spectrum of Noonan Syndrome (NS) requires better characterization. Methods This multicenter retrospective observational included 16 fetuses with molecularly confirmed NS admitted for fetopathological examination between 2009 and 2016. Results Among 12 pathogenic variants (PV) in PTPN11 (80%), 5 (42%) fell between position c.179 and c.182. Ultrasound showed increased nuchal translucency ( n = 13/16, 93%), increased nuchal fold after 15 weeks of gestation ( n = 12/16, 75%), pleural effusions ( n = 11/16, 69%), polyhydramnios ( n = 9/16, 56%), hydrops ( n = 7/16, 44%), cardiovascular ( n = 6/16, 38%) and cerebral ( n = 4/16, 25%) anomalies. Fetopathological examination found dysmorphic features in all cases, cardiovascular anomalies ( n = 12/15, 80%), pulmonary hypoplasia ( n = 10/15, 67%), effusions ( n = 7/15, 47%) and neuropathological anomalies ( n = 5/15, 33%). Hydrops was significantly ( p = 0.02) more frequent in the four fetuses with RIT1 , NRAS and RAF1 PV versus the 12 fetuses with PTPN11 PV. Conclusions Increased nuchal translucency and nuchal fold is common in NS. Noonan Syndrome antenatal phenotype showed high in utero fetal death, hydrops, prenatal pleural effusion and pulmonary hypoplasia, although the inclusion of only deceased fetuses will have selected more severe phenotypes. Non‐specific cardiovascular and neurological abnormalities should be added to NS antenatal phenotype. Next generation sequencing will help detect more genotypes, clarifying the prenatal phenotype and identifying genotype‐phenotype correlations