RESUMO
OBJECTIVE: To determine the frequency and nature of copy number variants (CNVs) identified by chromosomal microarray analysis (CMA) in a large cohort of fetuses with isolated increased nuchal translucency thickness (NT) ≥ 3.5 mm. METHODS: This was a retrospective, multicenter study, including 11 French hospitals, of data from the period between April 2012 and December 2015. In total, 720 fetuses were analyzed by rapid aneuploidy test and the fetuses identified as euploid underwent CMA. CNVs detected were evaluated for clinical significance and classified into five groups: pathogenic CNVs; benign CNVs; CNVs predisposing to neurodevelopmental disorders; variants of uncertain significance (VOUS); and CNVs not related to the phenotype (i.e. incidental findings). RESULTS: In 121 (16.8%) fetuses, an aneuploidy involving chromosome 13, 18 or 21 was detected by rapid aneuploidy test and the remaining 599 fetuses were euploid. Among these, 53 (8.8%) had a CNV detected by CMA: 16/599 (2.7%) were considered to be pathogenic, including 11/599 (1.8%) that were cryptic (not visible by karyotyping); 7/599 (1.2%) were CNVs predisposing to neurodevelopmental disorders; and 8/599 (1.3%) were VOUS. Additionally, there was one (0.2%) CNV that was unrelated to the reason for referral diagnosis (i.e. an incidental finding) and the remaining 21 were benign CNVs, without clinical consequence. Interestingly, we identified five genomic imbalances of the 1q21.1 or 15q11.2 regions known to be associated with congenital heart defects. CONCLUSION: Our study demonstrates the benefit of CMA in the etiological diagnosis of fetuses with isolated increased NT. It is worth noting that most (69%) of the detected pathogenic CNVs were cryptic. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.
Assuntos
Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Diagnóstico Pré-Natal/métodos , Adolescente , Adulto , Aneuploidia , Cromossomos Humanos/genética , Feminino , Idade Gestacional , Humanos , Idade Materna , Medição da Translucência Nucal , Gravidez , Estudos Retrospectivos , Adulto JovemRESUMO
The organization and dynamics of chromatin within the interphase nucleus as chromosome territories (CTs) and the relationship with transcriptional regulation are not fully understood. We studied a natural example of chromosomal disorganization: aneuploidy due to trisomies 13, 18 and 21. We hypothesized that the presence of an extra copy of one chromosome alters the CT distribution, which perturbs transcriptional activity. We used 3D-FISH to study the position of the chromosomes of interest (18 and 21) in cultured amniocytes and chorionic villus cells from pregnancies with a normal or aneuploid karyotype. We studied the volumes of nuclei and CTs in both conditions and performed a compared transcriptome analysis. We did not observe any differences between euploid and aneuploid cells in terms of the radial and relative CT positions, suggesting that the same rules govern nuclear organization in cases of trisomy. We observed lower volumes for CTs 18 and 21. Overall genome expression profiles highlighted changes in the expression of a subset of genes in trisomic chromosomes, while the majority of transcriptional changes concerned genes located on euploid chromosomes. Our results suggest that a dosage imbalance of the genes on trisomic chromosomes is associated with a disturbance of overall genomic expression.
Assuntos
Núcleo Celular/ultraestrutura , Transtornos Cromossômicos/genética , Síndrome de Down/genética , Genoma Humano , Transcriptoma , Trissomia/genética , Adulto , Âmnio/metabolismo , Âmnio/patologia , Núcleo Celular/metabolismo , Vilosidades Coriônicas/metabolismo , Vilosidades Coriônicas/patologia , Cromatina/metabolismo , Cromatina/ultraestrutura , Transtornos Cromossômicos/metabolismo , Transtornos Cromossômicos/patologia , Cromossomos Humanos Par 13/genética , Cromossomos Humanos Par 13/metabolismo , Cromossomos Humanos Par 18/genética , Cromossomos Humanos Par 18/metabolismo , Síndrome de Down/metabolismo , Síndrome de Down/patologia , Feminino , Perfilação da Expressão Gênica , Idade Gestacional , Humanos , Hibridização in Situ Fluorescente , Interfase , Cariotipagem , Gravidez , Cultura Primária de Células , Trissomia/patologia , Síndrome da Trissomia do Cromossomo 13 , Síndrome da Trissomía do Cromossomo 18RESUMO
Inverted duplications with terminal deletions are a well-defined family of complex rearrangements already observed for most of chromosome extremities. Several mechanisms have been suggested which could lead to their occurrence, either through non-homologous end joining, non-allelic homologous recombination, or more recently through an intrastrand fold-back mechanism. We describe here a patient with intellectual disability and pharmacoresistant epilepsy, for which array CGH analysis showed the first interstitial case of inverted duplication with deletion on chromosome 1p. Furthermore, SNP array analysis revealed an associated segmental isodisomy for the distal part of 1p, which led us to consider a replicative mechanism to explain this abnormality. This observation extends the range of this once telomeric rearrangement.
Assuntos
Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Aberrações Cromossômicas , Cromossomos Humanos Par 1/genética , Epilepsia/patologia , Deficiência Intelectual/patologia , Adulto , Hibridização Genômica Comparativa , Epilepsia/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/genética , Cariotipagem , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
OBJECTIVES: The objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before and after 1997 when multidisciplinary centers for prenatal diagnosis (MCPDs) were established in France. METHODS: A database of 975 cases of TS diagnosed between 1980 and 2012 was created from 21 French cytogenetics laboratories. For each case, the karyotype indication, maternal age, year of prenatal testing, sampling procedure, karyotype, associated ultrasound findings, and outcomes were recorded. RESULTS: Karyotypes were mainly performed because of abnormal sonographic findings (84%). Before 1997, there were no changes in the rate of termination (90%) of affected fetuses. After 1997, the rate fell to 80%. This decrease was mainly observed in cases of mosaicism, incidental diagnosis, and in later gestations. US abnormalities were more likely to be associated with a full 45,X karyotype. CONCLUSION: There was an evolution in the way genetic counseling was performed following prenatal diagnosis of Turner syndrome that coincided with the opening of MCPDs in France. This resulted in a decrease in the rate of termination of affected fetuses.
Assuntos
Aborto Induzido/estatística & dados numéricos , Síndrome de Turner/diagnóstico por imagem , Adulto , Feminino , França/epidemiologia , Aconselhamento Genético/organização & administração , Humanos , Cariotipagem/estatística & dados numéricos , Medição da Translucência Nucal , Gravidez , Resultado da Gravidez , Estudos RetrospectivosRESUMO
OBJECTIVE: The 22q11.2 deletion (del22q11.2) is one of the most common microdeletions. We performed a collaborative, retrospective analysis in France of prenatal diagnoses and outcomes of fetuses carrying the del22q11.2. METHODS: A total of 272 fetuses were included. Data on prenatal diagnosis, ultrasound findings, pathological features, outcomes and inheritance were analyzed. RESULTS: The mean time of prenatal diagnosis was 25.6 ± 6 weeks of gestation. Most of the diagnoses (86.8%) were prompted by abnormal ultrasound findings [heart defects (HDs), in 83.8% of cases]. On fetal autopsy, HDs were again the most common disease feature, but thymus, kidney abnormalities and facial dysmorphism were also described. The deletion was inherited in 27% of cases. Termination of pregnancy (TOP) occurred in 68.9% of cases and did not appear to depend on the inheritance status. However, early diagnosis was associated with a higher TOP rate. CONCLUSION: This is the largest cohort of prenatal del22q11.2 diagnoses. As in postnatally diagnosed cases, HDs were the most frequently observed abnormalities. However, thymus and kidney abnormalities and polyhydramnios should also be screened for in the prenatal diagnosis of del22q11.2. Only the time of diagnosis appeared to be strongly associated with the pregnancy outcome: the earlier the diagnosis, the higher the TOP rate.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Síndrome de DiGeorge/diagnóstico , Resultado da Gravidez , Ultrassonografia Pré-Natal , Adolescente , Adulto , Autopsia , Síndrome de DiGeorge/epidemiologia , Feminino , Feto , França , Inquéritos Epidemiológicos , Humanos , Pessoa de Meia-Idade , Gravidez , Estudos Retrospectivos , Adulto JovemRESUMO
The authors report the sonographic, computed tomography (CT), and magnetic resonance imaging (MRI) findings in a patient with acquired porphyria cutanea tarda and hepatic multi-nodular focal fatty metamorphosis. There has only been one previous description of an association between these two conditions. The diagnosis was confirmed by histological analysis of a liver biopsy specimen. Symptomatology related to the hepatic abnormality may be due to an inflammatory reaction induced by the presence of uroporphyrin crystals in the liver. Each of the radiological techniques demonstrated unusual hepatic abnormalities and, in particular, MRI showed poorly defined areas in the liver which, on T2-weighted sequences, exhibited a hypersignal with fat saturation. Treatment of porphyria cutanea tarda led to clinical remission and resolution of radiological abnormalities.
Assuntos
Fígado Gorduroso/diagnóstico , Fígado/patologia , Porfiria Cutânea Tardia/patologia , Adulto , Fígado Gorduroso/complicações , Fígado Gorduroso/diagnóstico por imagem , Feminino , Humanos , Fígado/diagnóstico por imagem , Imageamento por Ressonância Magnética , Porfiria Cutânea Tardia/complicações , Tomografia Computadorizada por Raios X , UltrassonografiaRESUMO
Retropharyngeal abscesses in children are unusual and the involvement of the mediastinum is exceptional since the era of the antibiotics. It can be explained by the anatomic continuity between the retropharyngeal space and the retrooesophageal space. We report a case where the CT Scanner allows a complete evaluation of the disease in the mediastinum and a good follow-up.
Assuntos
Abscesso/complicações , Mediastinite/etiologia , Pescoço , Doenças Faríngeas/diagnóstico por imagem , Abscesso/diagnóstico por imagem , Feminino , Humanos , Lactente , Mediastinite/diagnóstico por imagem , Pescoço/diagnóstico por imagem , Fatores de Tempo , Tomografia Computadorizada por Raios X , UltrassonografiaRESUMO
"Milk of calcium" is a rare condition where a diversity of calcium salts are in suspension in a caliceal diverticulum or a renal cyst. This case report details the CT and ultrasound findings of a patient with milk of calcium renal cyst.
Assuntos
Cálcio , Doenças Renais Císticas/diagnóstico por imagem , Idoso , Humanos , Masculino , Tomografia Computadorizada por Raios X , UltrassonografiaRESUMO
The fortuitous discovery of a pulmonary miliary pattern in a asymptomatic child led the authors to the diagnosis of Niemann-Pick disease.
Assuntos
Pneumopatias/diagnóstico por imagem , Doenças de Niemann-Pick/diagnóstico por imagem , Pré-Escolar , Humanos , Masculino , Doenças de Niemann-Pick/diagnóstico , RadiografiaRESUMO
The authors report the main clinical and radiographic aspects of a circumscribed myositis ossificans in a 5 year old child located in the thoracic wall, near the sternum, stimulating a malignant tumor. CT scan was more contributive than MRI, both for diagnosis and survey, because it shows better the progressive peripheral calcification typical of the lesion.
Assuntos
Miosite Ossificante/diagnóstico , Doenças Torácicas/diagnóstico , Calcinose/diagnóstico , Calcinose/diagnóstico por imagem , Pré-Escolar , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Miosite Ossificante/diagnóstico por imagem , Doenças Torácicas/diagnóstico por imagem , Neoplasias Torácicas/diagnóstico , Fatores de Tempo , Tomografia Computadorizada por Raios X , UltrassonografiaRESUMO
BACKGROUND: Hypopituitarism is a rare but well-known complication of cranial trauma. In the absence of overt diabetes insipidus, its recognition is difficult as the onset of clinical symptoms can be very progressive, up to several years. CASE REPORTS: Three children, aged 8, 9 and 2 years, respectively, were admitted after a cranial trauma. Manifestations of diabetes insipidus occurred a few days later in two patients; one of them developed secondary growth hormone deficiency, hypothyroidism and hypogonadism, only evidenced at the age of 14 years. The third patient also developed manifestations of hypothalamic and/or pituitary hormone deficiencies without diabetes insipidus at the age of 12 years-6 months. MRI showed complete severance of the pituitary stalk in two patients and absence of posterior pituitary signal in one of the two patients with diabetes insipidus. CONCLUSION: Growth disorders and/or hypogonadism may occur many years after a trauma that may have been forgetten. Search for such an etiology and dynamic MRI are necessary in identifying heterogenous hypophyseal lesions.
Assuntos
Traumatismos Craniocerebrais/complicações , Hipopituitarismo/etiologia , Criança , Feminino , Humanos , Hipopituitarismo/diagnóstico , Lactente , Imageamento por Ressonância Magnética , MasculinoRESUMO
US and MR features (including MR cholangiopancreatography) of a cystic formation in a duodenal heterotopic pancreas are reported. To our knowledge, MR cholangiopancreatography of this uncommon condition has not been previously described. Imaging showed multiple cysts within a thickened duodenal wall. This thickness of the duodenal wall was related to a heterotopic pancreas with chronic pancreatitis.
Assuntos
Coristoma/diagnóstico por imagem , Duodenopatias/diagnóstico por imagem , Imageamento por Ressonância Magnética , Pâncreas , Cisto Pancreático/diagnóstico por imagem , Pancreatite/diagnóstico por imagem , Biópsia , Colangiopancreatografia Retrógrada Endoscópica , Coristoma/diagnóstico , Meios de Contraste , Duodenopatias/diagnóstico , Gadolínio , Humanos , Masculino , Pessoa de Meia-Idade , Pâncreas/diagnóstico por imagem , Pâncreas/patologia , Cisto Pancreático/diagnóstico , Pancreatite/diagnóstico , Ultrassonografia de IntervençãoRESUMO
The CD-ROM technology allows the production of multimedia works which costs far less than books do. The creation of Internet and the servers World Wide Web has the advantage of distributing those works world wide, without the difficulties and the delays related to books and magazines distribution. The Teachers' Council of Radiology of France (CERF) and the French Society of Radiology (SFR) have opted to use these new media and these information highways to spread a part of their radiology teaching work. Iconocerf is a software program which allows to create, store, read and to exchange digitized radiological cases. It's available free of charge, within the CERF and SFR. The CD-ROMs Iconocerf-Medimag contain 3,500 radiological files with 15,000 images, previously on the videodisc Medimag. The Server of the French Radiology is a W3 server which includes: the CERF directory, a guide for the teachers, the research workers and the students in Radiology and Medical Imaging. It also contains the teaching works on Radiology, and some Iconocerf clinical cases translated onto HTML. The aim of this project is to create an evaluation system for radiology. By using key words, this system allows to consult: radiological clinical cases, located on the server or on CD-ROMs; reference texts; and to have access to the experts' addresses to be able to send them eventually a difficult case through electronic mail.
Assuntos
CD-ROM , Redes de Comunicação de Computadores , Instrução por Computador , Diagnóstico por Imagem , Instrução por Computador/instrumentação , França , Humanos , Materiais de EnsinoRESUMO
The duodenum is the second most common site, after the colon, for intestinal diverticulae. This condition is most often asymptomatic and is usually an accidental finding. Complications, with variable clinical presentations, may occur in up to 5% of such individuals. We report a retrospective analysis of 5 patients who presented with complicated duodenal diverticular disease. The complications, either isolated or multiple, consisted of bezoar formation (n = 2), diverticulitis (n = 2), extrinsic compression of the common bile duct (n = 3), perforation (n = 1), choledocholithiasis (n = 1), and an abnormality of the bilio-pancreatic ductal convergence (n = 1). The radiological aspects, in particular, the magnetic resonance imaging (MRI) features are reviewed. These are, to our knowledge, the first descriptions of MRI and magnetic resonance cholangiopancreatographic (MRCP) findings in complicated duodenal diverticular disease. MRI facilitates precise delineation of the complicated duodenal diverticulum while MRCP allows assessment of the effects on the biliary and pancreatic ducts.