Septo-optic dysplasia: an autopsy study of a 23-week fetus.

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.

A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1.

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.

Prenatal Ventriculomegaly - Diagnosis, Prognostication and Management.

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.

Potential and limitations of angle-independent flow detection algorithms using radio-frequency and detected echo signals.

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.