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PURPOSE: To assess the ability of tumor apparent diffusion coefficient (ADC) values obtained from multiparametric magnetic resonance imaging (mpMRI) to predict the risk of 5-year biochemical recurrence (BCR) after radical prostatectomy (RP). MATERIALS AND METHODS: This retrospective analysis included 1207 peripheral and 232 non-peripheral zone prostate cancer (PCa) patients who underwent mpMRI before RP (2012-2015), with the outcome of interest being 5-year BCR. ADC was evaluated as a continuous variable and as categories: low (< 850 µm2/s), intermediate (850-1100 µm2/s), and high (> 1100 µm2/s). Kaplan-Meier curves with log-rank testing of BCR-free survival, multivariable Cox proportional hazard regression models were formed to estimate the risk of BCR. RESULTS: Among the 1439 males with median age 63 (± 7) years, the median follow-up was 59 months, and 306 (25%) patients experienced BCR. Peripheral zone PCa patients with BCR had lower tumor ADC values than those without BCR (874 versus 1025 µm2/s, p < 0.001). Five-year BCR-free survival rates were 52.3%, 74.4%, and 87% for patients in the low, intermediate, and high ADC value categories, respectively (p < 0.0001). Lower ADC was associated with BCR, both as continuously coded variable (HR: 5.35; p < 0.001) and as ADC categories (intermediate versus high ADC-HR: 1.56, p = 0.017; low vs. high ADC-HR; 2.36, p < 0.001). In the non-peripheral zone PCa patients, no association between ADC and BCR was observed. CONCLUSION: Tumor ADC values and categories were found to be predictive of the 5-year BCR risk after RP in patients with peripheral zone PCa and may serve as a prognostic biomarker.
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Imageamento por Ressonância Magnética Multiparamétrica , Recidiva Local de Neoplasia , Prostatectomia , Neoplasias da Próstata , Humanos , Masculino , Neoplasias da Próstata/cirurgia , Neoplasias da Próstata/diagnóstico por imagem , Neoplasias da Próstata/patologia , Pessoa de Meia-Idade , Estudos Retrospectivos , Recidiva Local de Neoplasia/diagnóstico por imagem , Idoso , Antígeno Prostático Específico/sangue , Medição de Risco , Imagem de Difusão por Ressonância Magnética/métodosRESUMO
Enteric duplication cysts are rare congenital malformations of the gastrointestinal tract. Prenatal diagnosis can be achieved through ultrasound, which may reveal a cystic mass, though the differential diagnosis is broad. We report a case in which the prenatal ultrasound detection of an abdominal cystic mass prompted postnatal magnetic resonance imaging, leading to the diagnosis of an enteric duplication cyst. At 6 weeks of age, the infant developed an obstruction of the small bowel, requiring urgent surgical intervention. This case underscores the difficulties in differentiating abdominal cysts prenatally. Thorough prenatal and neonatal follow-up is crucial, and postnatal magnetic resonance imaging is sometimes essential for accurate diagnosis. The clinical course can be unpredictable, and complications that may arise could necessitate urgent surgical treatment.
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Background Current predictive tools to estimate the risk of biochemical recurrence (BCR) after treatment of prostate cancer do not consider multiparametric MRI (mpMRI) information. Purpose To develop a risk prediction tool that considers mpMRI findings to assess the risk of 5-year BCR after radical prostatectomy. Materials and Methods In this retrospective single-center analysis in 1459 patients with prostate cancer who underwent mpMRI before radical prostatectomy (in 2012-2015), the outcome of interest was 5-year BCR (two consecutive prostate-specific antigen [PSA] levels > 0.2 ng/mL [0.2 µg/L]). Patients were randomly divided into training (70%) and test (30%) sets. Kaplan-Meier plots were applied to the training set to estimate survival probabilities. Multivariable Cox regression models were used to test the relationship between BCR and different sets of exploratory variables. The C-index of the final model was calculated for the training and test sets and was compared with European Association of Urology, University of California San Francisco Cancer of the Prostate Risk Assessment, Memorial Sloan-Kettering Cancer Center, and Partin risk tools using the partial likelihood ratio test. Five risk categories were created. Results The median duration of follow-up in the whole cohort was 59 months (IQR, 32-81 months); 376 of 1459 (25.8%) patients had BCR. A multivariable Cox regression model (referred to as PIPEN, and composed of PSA density, International Society of Urological Pathology grade group, Prostate Imaging Reporting and Data System category, European Society of Urogenital Radiology extraprostatic extension score, nodes) fitted to the training data yielded a C-index of 0.74, superior to that of other predictive tools (C-index 0.70 for all models; P ≤ .01) and a median higher C-index on 500 test set replications (C-index, 0.73). Five PIPEN risk categories were identified with 5-year BCR-free survival rates of 92%, 84%, 71%, 56%, and 26% in very low-, low-, intermediate-, high-, and very high-risk patients, respectively (all P < .001). Conclusion A five-item model for predicting the risk of 5-year BCR after radical prostatectomy for prostate cancer was developed and internally verified, and five risk categories were identified. © RSNA, 2023 Supplemental material is available for this article. See also the editorial by Aguirre and Ortegón in this issue.
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Imageamento por Ressonância Magnética Multiparamétrica , Neoplasias da Próstata , Humanos , Masculino , Próstata , Antígeno Prostático Específico , Prostatectomia , Neoplasias da Próstata/diagnóstico por imagem , Neoplasias da Próstata/cirurgia , Estudos RetrospectivosRESUMO
Tumor ablation is included in several major cancer therapy guidelines. One technical challenge of percutaneous ablation is targeting and verification of complete treatment, which is prone to operator variabilities and human imperfections and are directly related to successful outcomes, risk for residual unablated tumor and local progression. The use of "Prediction Ablation Volume Software" may help the operating Interventional Radiologist to better plan, deliver, and verify before the ablation, via virtual treatment zones fused to target tumor. Fused and superimposed images provide 3-dimensional information from different timepoints, just when that information is most useful. The aim of this study is to evaluate the technical success and efficacy of an ablation treatment flowchart provided by a cone beam computed tomography (CBCT) "Prediction Ablation Volume Software." This is a single-center retrospective study. From April 2021 to January 2022, 29 nonconsecutive evaluable patients with 32 lesions underwent liver ablation with Prediction Ablation Volume Software. Each patient was discussed in a multidisciplinary tumor board and underwent an enhanced computed tomography or magnetic resonance imaging approximately 1 month before the procedure, as well as â¼1 month after. Technical success was defined as treatment of the tumor according to the protocol, covered completely by the Prediction Ablation Volume. Technical efficacy was defined as assessment of complete ablation of the target tumor at imaging follow up (â¼1 month). Technical success, technical efficacy, and procedural factors were studied. Technical success was achieved in 30 of 32 liver lesions (94%), measuring 20â mm mean maximum diameter. The antenna was repositioned in 16 of 30 (53%) evaluable target lesions. Residual tumor was detected at 1 month imaging follow up in only 4 of 30 (13%) of the treated lesion. Technical efficacy was of 87% in this retrospective description of our process. The implementation of a CBCT Prediction Ablation Volume Software and flowchart for the treatment of liver malignancies altered the procedure, and demonstrated high technical success and efficacy. Such tools are potentially useful for procedural prediction and verification of ablation.
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Ablação por Cateter , Neoplasias Hepáticas , Humanos , Estudos Retrospectivos , Micro-Ondas/uso terapêutico , Resultado do Tratamento , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/radioterapia , Neoplasias Hepáticas/cirurgia , Tomografia Computadorizada de Feixe Cônico/métodos , Ablação por Cateter/métodosRESUMO
Dynamic contrast-enhanced (DCE) imaging is a non-invasive technique used for the evaluation of tissue vascularity features through imaging series acquisition after contrast medium administration. Over the years, the study technique and protocols have evolved, seeing a growing application of this method across different imaging modalities for the study of almost all body districts. The main and most consolidated current applications concern MRI imaging for the study of tumors, but an increasing number of studies are evaluating the use of this technique also for inflammatory pathologies and functional studies. Furthermore, the recent advent of artificial intelligence techniques is opening up a vast scenario for the analysis of quantitative information deriving from DCE. The purpose of this article is to provide a comprehensive update on the techniques, protocols, and clinical applications - both established and emerging - of DCE in whole-body imaging.
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Neoplasias , Imagem Corporal Total , Inteligência Artificial , Meios de Contraste , Humanos , Imageamento por Ressonância Magnética/métodosRESUMO
OBJECTIVE: We report the first case in which the onset of omphalocele was after the spontaneous rupture of an allantoic cyst. We hypothesize a causal link between the spontaneous rupture of the cyst and the herniation of the viscera. Case Presentation. A 36-year-old woman was diagnosed with an allantoic cyst during the first trimester. The allantoic cyst underwent spontaneous rupture during the 32nd week of gestation, and an omphalocele developed secondary to the cyst's rupture. Two days after birth, the peritoneum covering intestinal loops broke spontaneously and the newborn underwent successful urgent surgery. CONCLUSIONS: This case may suggest that the relative benignity of the allantoid cysts may recommend a close ultrasound follow-up in order to identify the onset of any complications, as a late third trimester onset of omphalocele. Prenatal diagnosis of such complications may allow multidisciplinary management of the pregnancy with planned cesarean section, prenatal pediatric surgery consultation, and neonatal surgery.
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BACKGROUND: Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia. CASE PRESENTATION: A G1 at 21w + 3d came to our institution for the second-trimester ultrasound and a skeletal dysplasia with prevalent involvement of limb's rhizomelic tracts was suspected. Amniocentesis followed by CGH-array was performed, with normal results. An examination by NGS of some genes associated with skeletal dysplasias showed a novel pathogenic variant of the ACAN gene: c.2677delG. CONCLUSION: Sequence variations of ACAN were never described as a possible cause of fetal skeletal anomalies to date. In this case report, we describe the first prenatal diagnosis of skeletal dysplasia associated with a pathogenic variant of ACAN.
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Agrecanas , Doenças do Desenvolvimento Ósseo/genética , Mutação/genética , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal , Adulto , Amniocentese , Feminino , Retardo do Crescimento Fetal/genética , Feto , Humanos , Gravidez , Ultrassonografia Pré-NatalRESUMO
Heterotopic cervical pregnancy is a rare and potentially dangerous condition where the challenge is the removal of the ectopic pregnancy while preserving the intrauterine one. We present the case of an otherwise healthy 36-year-old woman with heterotopic cervical pregnancy after an IVF cycle for tubal infertility. At 6.5 weeks after a consultation with gynecologists and interventional radiologists, the patient agreed to undergo microwave ablation of the cervical pregnancy. Monthly ultrasound examination showed the persistence of non homogeneous and vascularized tissue in the cervix. Intrauterine pregnancy continued without complications until 37 weeks when a cesarean section was performed for sudden and profuse bleeding, in the presence of uterine contractions. A healthy baby girl was delivered, and the postoperative course was otherwise uncomplicated. Heterotopic cervical pregnancies are rare, and no consolidated and risk-free treatments are available at the moment. Here, we present a case of heterotopic cervical pregnancy treated successfully and without complications with microwave ablation.
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Técnicas de Ablação , Transferência Embrionária/efeitos adversos , Fertilização in vitro/efeitos adversos , Micro-Ondas/uso terapêutico , Gravidez Heterotópica/cirurgia , Adulto , Feminino , Humanos , Gravidez , Gravidez Heterotópica/diagnóstico , Gravidez Heterotópica/etiologia , Resultado do TratamentoRESUMO
BACKGROUND: May-Hegglin anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described. CASE PRESENTATION: We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30 years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders. CONCLUSIONS: To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.
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Cistos/diagnóstico por imagem , Perda Auditiva Neurossensorial/genética , Complicações na Gravidez/genética , Terceiro Ventrículo/anormalidades , Trombocitopenia/congênito , Adulto , Cistos/embriologia , Cistos/genética , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Recém-Nascido , Gravidez , Complicações na Gravidez/diagnóstico , Resultado da Gravidez , Gravidez de Gêmeos , Trombocitopenia/diagnóstico , Trombocitopenia/genética , Ultrassonografia Pré-NatalRESUMO
Interventional radiology plays a key role in the treatment of symptomatic herniations of intervertebral discs. Through image-guided techniques, it is possible to use minimally invasive procedures with a percutaneous approach that are usually proposed before classic surgery. Thanks to imaging guidance, it is possible to significantly increase accuracy and decrease complication rates. The pivotal principle of these mini-invasive techniques is to remove a small amount of volume of the nucleus of the intervertebral disc which results in a significant reduction in intradiscal pressure; allowing for a consequent reduction in compression of the nervous structures that generate spinal pain. However, it must be considered that this type of treatment is only addressed to contained disc herniations previously diagnosed with a suitable neuroimaging examination. There are different types of treatment using a variety of chemical, thermal or mechanical processes that result in partial removal of the nucleus pulposus. The purpose of this technical note is to illustrate mechanical disc decompression treatment via a percutaneous approach using the DISKOM device (DISKOM percutaneous discectomy probe, Biopsybell, Mirandola, Italy). Indications, complications and various methods of use are described in relation to the different levels of the spine to be treated.
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Deslocamento do Disco Intervertebral , Descompressão Cirúrgica , Humanos , Deslocamento do Disco Intervertebral/diagnóstico por imagem , Deslocamento do Disco Intervertebral/cirurgia , Itália , Vértebras Lombares/cirurgia , Resultado do TratamentoRESUMO
INTRODUCTION: High-flow priapism is a persistent partial penile tumescence, related to high flow arterial blood into the corpora. In the treatment of high flow priapism, super-selective embolization is considered treatment of choice when conservative treatment fails as reported in the "EAU Guidelines on Priapism", but there are only few series reporting the outcome, the efficacy of different embolic materials and these studies are uncontrolled and relatively small. OBJECTIVES: The aim of this study is to review the literature to outline the state of the art of this interventional treatment and to analyse the outcome of the different embolic agents. METHODS: Through Medline database we searched all the English-language published articles related to priapism. Keywords were chosen according to MeSH terms. We selected case-series from 1990 to 2020 including at least five cases of high-flow priapism.The variables extracted from the selected articles were: number of patients, mean age, diagnostic imaging modality, mono or bilateral involvement of the arteries, embolization material, technical success, clinical success, complications, recurrence rate and type of reintervention, mean follow up, onset of erectile dysfunction. RESULTS: We analyzed 11 papers.A total of 117 patients, mean age of 30 years, were studied during a period of 8 to 72 months. Technical success average was 99%, varying from 93 to 100%. Clinical success average was 88%, varying from 56 to 100%. After two or more treatments, resolution of priapism was obtained in all patients. No major adverse events registered. Recurrence rate of 21%(25/117) was observed, and only 4 pts underwent surgery. A total of 17 pts (15%) developed erectile dysfunction (ED). CONCLUSION: Our data suggested comparable outcomes using different types of materials.In line with the last evidences we suggest that the choice of the embolic material should be selected basing on the expertise of the operator, the characteristic of the fistula and characteristic of the patients.
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Priapismo , Adulto , Humanos , Masculino , Pênis/diagnóstico por imagem , Pênis/cirurgia , Priapismo/diagnóstico por imagem , Priapismo/terapia , Radiologia Intervencionista , Resultado do Tratamento , Ultrassonografia Doppler em CoresRESUMO
BACKGROUND: Prostate cancer is the first cancer diagnosis in men. European Association of Urology (EAU) Guidelines for Prostate Cancer underline the importance of screening, performed through PSA testing on all men with more than 50 years of age and before on men with risk factors. The diagnosis is still histopathologic, and it is done on the basis of the findings on biopsy samples. MATERIALS AND METHODS: Fusion biopsy is a relatively new technique that allows the operator to perform the biopsies in office instead of the MRI gantry, without losing the detection capability of MRI. The T2-wighted images obtained during a previous mpMRI are merged with the real-time ones of the TRUS. RESULTS: Fusion biopsy in comparison with the systematic standard biopsy has a better detection rate of clinically significant cancers and of any cancers. CONCLUSION: EAU 2020 guidelines still do offer a list of indications of when the biopsy should be performed, but it still appeared to be overperformed. The aim of our study is to underline how, in accordance with the recent literature result, fusion biopsy has showed a better detection rate of any cancer and clinically significant disease with a reduced numbers of samplings, and no substantial difference between the multiple software.
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Biópsia Guiada por Imagem , Neoplasias da Próstata , Biópsia , Humanos , Imageamento por Ressonância Magnética , Masculino , Neoplasias da Próstata/diagnóstico por imagem , SoftwareRESUMO
This proof of concept is to evaluate the utility of perfusion cone-beam computed tomography (CT) in patients undergoing prostatic artery (PA) embolization (PAE) for benign prostatic hyperplasia (BPH) with moderate or severe-grade lower urinary tract symptoms (LUTS). PAE is a novel minimally invasive therapy and is both safe and effective procedure with low risks and high technical successes, making this procedure as the best alternative to surgery. A lot of technical changes would compromise clinical outcomes after procedure, including a variable prostate vascular anatomy, thin PA, and extensive atherosclerotic disease. The purpose of our study is to exploit the advantages of Perfusion Cone Beam Computed Tomography (CBCT) that could impact treatment and help interventional radiologists for treatment planning, diagnosis and for assessing the technical feasibility during PAE, mitigating the risk of nontarget embolization and suggesting clinical outcomes. Qualitative and quantitative clinical pre- and post-treatment values will be compared, to reach the best possible results.
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Embolização Terapêutica , Hiperplasia Prostática , Artérias , Tomografia Computadorizada de Feixe Cônico , Humanos , Masculino , Perfusão , Hiperplasia Prostática/diagnóstico por imagem , Hiperplasia Prostática/terapia , Resultado do TratamentoRESUMO
Bone metastases are a common cause of cancer-related debilitating pain, especially when -localized in the vertebral column and not responsive to standard treatment. In such cases, various treatment options are available; among these is Radiofrequency, whose role has been rapidly growing over the past few years. In this study, we used the innovative Osteocool RF Ablation System (Medtronic) on a patient with a painful bone metastasis localized in the 5th lumbar vertebra, with encouraging results. The radiofrequency ablation of bone metastases with palliative aim represents an excellent treatment option, as it is a minimally invasive and safe procedure, and can be repeated multiple times.
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Ablação por Radiofrequência , Neoplasias da Coluna Vertebral , Humanos , Dor , Cuidados Paliativos , Neoplasias da Coluna Vertebral/cirurgia , Tecnologia , Resultado do TratamentoRESUMO
Fetal lymphangioma is a rare congenital malformation of lymphatic system that involve the skin and the subcutaneous tissue. The vast majority of the lymphangioma occurs in the neck. More rarely lymphangiomas may occur in the axillary region, including chest wall. Our consecutive case series study included three cases of fetal chest wall cystic lymphangiomas. In our cohort, fetal chest wall cystic lymphangiomas were the 18.8% of the all cases of lymphangiomas of axillary region. In all the three cases no other fetal abnormalities were evaluated, and the chest wall cystic lymphangiomas were unilateral, honeycombed in appearance, with multiple echo-free area of varying size in the mass, with no color flow on Doppler sonography, and with a trend to increase during the gestation. The incidence of chromosomal abnormalities was 33.3%, with one case out of the three being trisomy 21.The literature review revealed only seven cases of fetal chest wall cystic lymphangiomas. The cases were not associated with other abnormalities, nor with abnormal karyotype and only one case of fetal death was reported. Three women delivered vaginally. In summary, fetal chest wall cystic lymphangioma is a very rare malformations with only seven cases reported in the literature. This malformation is usually not associated with abnormal karyotype or other abnormalities and the neonatal outcome is favorable after surgical removal. Spontaneous vaginal delivery may be a safe approach for delivery women with fetal chest wall cystic lymphangioma. CONDENSATION: Fetal chest wall cystic lymphangioma is a very rare malformations with only seven cases reported in the literature. This malformation is usually not associated with abnormal karyotype or other abnormalities and the neonatal outcome is favorable after surgical removal. Spontaneous vaginal delivery may be a safe approach for delivery women with fetal chest wall cystic lymphangioma.
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Doenças Fetais/diagnóstico por imagem , Linfangioma Cístico/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico por imagem , Parede Torácica/diagnóstico por imagem , Adulto , Feminino , Humanos , Itália , Gravidez , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: Placental mesenchymal dysplasia (PMD) is a rare vascular and connective placental anomaly, which is often associated with severe fetal and/or maternal complications. The diversity of presentation of PMD challenges diagnosis and effective pregnancy management. OBJECTIVE: We aimed to review cases presenting at 7 tertiary centers worldwide over the last decade and to study the occurrence of obstetric and neonatal complications. STUDY DESIGN: Pathology databases from 7 tertiary hospitals were screened for cases of PMD (between 2007-2017). Pregnancy history, outcomes and ultrasound images were then reviewed for each case. RESULTS: Twenty-two cases of PMD were identified. Mean gestational age at diagnosis was 23 weeks (16-39 weeks). Prenatal biochemical screening was abnormal in 8 cases (36%). Of the 12 cases that underwent invasive genetic testing, 4 were abnormal. Six patients (27%) developed maternal complications (preeclampsia/gestational hypertension). Fetal growth restriction was identified in 11 cases (50%) and fetal death in 4 (18%). Four (18%) pregnancies were terminated, 9/14 (64%) delivered preterm and only three (14%) progressed normally. Fourteen babies were born alive; 5 (35%) died in the first sixty-one days after birth, 5 (35%) had transient thrombopenia and 1 (7%) had developmental delay at last follow-up. Our series identified four potential new associations with PMD: placental triploidy mosaicism, CHARGE syndrome, fetal pleuropulmonary blastoma and fetal skeletal dysplasia. CONCLUSIONS: PMD was substantially under-diagnosed before delivery in this cohort. Sonographers, fetal medicine specialists, obstetricians and pathologists should all suspect PMD in cases of an enlarged placenta and should look for fetal abnormalities. Diagnostic genetic testing should be discussed to exclude partial molar pregnancy. Close pregnancy follow-up is indicated due to the high risk of associated fetal or maternal adverse outcomes.
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Doenças Placentárias/patologia , Placenta/patologia , Adulto , Feminino , Idade Gestacional , Humanos , Doenças Placentárias/diagnóstico por imagem , Gravidez , Complicações na Gravidez/etiologia , Complicações na Gravidez/patologia , Ultrassonografia Pré-NatalRESUMO
The objective of our study is to describe the sonographic findings of an extremely rare pathology. We therefore present two case reports of prenatal diagnosis of fetus-in-fetu (FIF) with a review of the literature. FIF is a benign disorder, unlike the teratoma with which often enter into the differential diagnosis, localized in most cases in the retroperitoneal space. Prenatal diagnosis is based mainly on ultrasound and radiological characteristics. The treatment of choice is surgical excision. The importance of prenatal diagnosis of fetus-in-fetu and the effect on subsequent management are described.
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Gêmeos Unidos , Aborto Eugênico , Adulto , Cesárea , Feminino , Doenças Fetais/diagnóstico por imagem , Humanos , Gravidez , Gravidez de Gêmeos , Gêmeos Unidos/cirurgia , Ultrassonografia Pré-NatalRESUMO
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies. METHODS: We retrospectively analyzed 104 fetuses with CCD undergoing MRI between 2006 and 2016. Corpus callosum, cavum septi pellucidi, biometry, presence of ventriculomegaly, gyration anomalies, cranio-encephalic abnormalities and body malformations were evaluated. Results of genetic tests were also recorded. RESULTS: At MRI, isolated CCD was 26.9%, the rest being associated to other abnormalities. In the isolated group, median gestational age at MRI was lower in complete agenesis than in hypoplasia (22 vs 28 weeks). In the group with additional findings, cortical dysplasia was the most frequently associated feature (P = 0.008), with a more frequent occurrence in complete agenesis (70%) versus other forms; mesial frontal lobes were more often involved than other cortical regions (P = 0.006), with polymicrogyria as the most frequent cortical malformation (40%). Multivariate analysis confirmed the association between complete agenesis and cortical dysplasia (odds ratio = 7.29, 95% confidence interval 1.51-35.21). CONCLUSIONS: CCD is often complicated by other intra-cranial and extra-cranial findings (cortical dysplasias as the most prevalent) that significantly affect the postnatal prognosis. The present study showed CCD with associated anomalies as more frequent than isolated (73.1%). In isolated forms, severe ventriculomegaly was a reliable herald of future appearance of associated features. © 2016 John Wiley & Sons, Ltd.