Assuntos
Cavidades Cranianas/anormalidades , Insuficiência Cardíaca/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Circulação Cerebrovascular , Cavidades Cranianas/diagnóstico por imagem , Cavidades Cranianas/embriologia , Feminino , Insuficiência Cardíaca/congênito , Insuficiência Cardíaca/embriologia , Humanos , Ilustração Médica , Morte Perinatal , GravidezRESUMO
Septo-optic dysplasia is a rare congenital anomaly with an incidence of 1 in 10,000 live births. Recognizing this anomaly early can help parents take an informed decision. There are very few reports of pathological descriptions of this anomaly. We present neuropathological findings at autopsy following medical termination of pregnancy of a 23-week fetus with septo-optic dysplasia (SOD), optic nerve hypoplasia, absent septum pellucidum with aplastic posterior pituitary.
Assuntos
Encéfalo/anormalidades , Displasia Septo-Óptica/patologia , Autopsia , Feminino , Feto , Humanos , GravidezRESUMO
OBJECTIVE: With this case report, we would like to highlight the importance of a multidisciplinary approach and atypical findings of congenital high airway obstruction sequence (CHAOS), anhydramnios, and renal dysgenesis in the prenatal diagnosis of Fraser syndrome (FS). CASE REPORT: A 25-year-old primigravida at 19 weeks of routine anomaly scan revealed abnormal sonographic findings such as fetal bilateral dysplastic small kidneys and gross oligohydramnios. The further detailed evaluation revealed that both fetal lungs were hyperechogenic with prominent (dilated) trachea and bronchi suggestive of CHAOS. Based on these findings, a diagnosis of FS was suspected. The couple was counseled and the pregnancy was terminated. The postmortem evaluation and novel homozygous variant in the FRAS1 gene confirmed the diagnosis of FS. CONCLUSION: The diagnosis and counseling of the patient were supported by a well-coordinated, multidisciplinary approach involving an obstetrician, a fetal medicine specialist, a medical geneticist, and a fetal pathologist.
Assuntos
Obstrução das Vias Respiratórias/congênito , Proteínas da Matriz Extracelular/genética , Síndrome de Fraser , Oligo-Hidrâmnio , Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/métodos , Anormalidades Urogenitais , Adulto , Feminino , Síndrome de Fraser/diagnóstico por imagem , Síndrome de Fraser/genética , Humanos , Túbulos Renais Proximais/anormalidades , Oligo-Hidrâmnio/diagnóstico por imagem , Oligo-Hidrâmnio/genética , Gravidez , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/genéticaRESUMO
Fetal ventriculomegaly (VM) refers to the abnormal enlargement of one or more ventricles of the brain in-utero. The enlargement may or may not be related to ventricular obstruction and increased intracranial pressure; therefore, the term "hydrocephalus" is not used. VM is diagnosed usually in the mid-trimester when the atrial diameter (AD) of the lateral ventricle is more than 10 mm on one or both sides. A thorough workup is then required to identify the cause as the etiology is diverse. Fetal magnetic resonance imaging (MRI) may yield additional information. Serial ultrasound follow-up would be required to assess its progression with advancing gestation. The prognosis and long-term outcomes greatly depend upon the etiology, the severity at diagnosis, progression, and associations. This article reviews the definitions, diagnosis, and workup of fetal VM, discusses follow-up protocols and prognosis, and examines the role of fetal therapy, including fetoscopic surgery in its prenatal management.
Assuntos
Hidrocefalia , Malformações do Sistema Nervoso , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/cirurgia , Imageamento por Ressonância Magnética , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-NatalRESUMO
New techniques to estimate local blood and tissue velocities have been developed by several groups, including our own. The performance of these techniques is ultimately limited by the characteristics of ultrasonic imaging systems that determine the second-order statistics of speckle. These statistical parameters vary widely depending on the dimension of analysis in the image plane (lateral or axial) and on the echo input signal (radio-frequency or detected data). We use experiments and theory to examine these factors and describe their impact on the performance of our correlation-based technique for angle-independent tracking of blood or tissue motion. The results indicate that the second-order statistics determine the performance of our correlation-based algorithm and can be used to predict the performance of other angle-independent flow detection techniques.