A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.

Ryanodine receptor type 1-related disorder (RYR1-RD) is the most common subgroup of congenital myopathies with a wide phenotypic spectrum ranging from mild hypotonia to lethal fetal akinesia. Genetic testing for myopathies is imperative as the diagnosis informs counseling regarding prognosis and recurrence risk, treatment options, monitoring, and clinical management. However, diagnostic challenges exist as current options are limited to clinical suspicion prompting testing including: single gene sequencing or familial variant testing, multi-gene panels, exome, genome sequencing, and invasive testing including muscle biopsy.

Utilization of 3-T fetal magnetic resonance imaging in clinical practice: a single-institution experience.

Background: As the safety and efficacy of fetal magnetic resonance imaging (MRI) at 3 tesla (T) continues to evolve, understanding its potential benefits and limitations is becoming increasingly important.

Objective: We aim to compare the image quality of fetal MRI between 1.5 T and 3 T in routine clinical practice.

Imaging in the presence of meroanencephaly.

Meroanencephaly occurs when there is an incomplete open median calvarial defect. This condition, which is in the spectrum of anencephaly, results in ectopic brain without skin covering and a normal foramen magnum. We present a rare case of a female fetus with meroanencephaly referred to our institution at 24 weeks and imaged with both prenatal ultrasound and MRI, demonstrating an open neural tube defect in the high parietal area and lack of visualization of the supratentorial ventricular system.

Fetal and postnatal MRI findings of Blake pouch remnant causing obstructive hydrocephalus.

Blake pouch remnant, also known as Blake pouch cyst or persistent Blake pouch, is a posterior fossa embryologic anomaly that is often seen in isolation with most affected patients being asymptomatic. However, even in isolation, Blake pouch remnant can result in obstructive hydrocephalus requiring early neurosurgical intervention making it an important diagnosis for the fetal radiologist to consider. We present a rare case of a patient with prenatally diagnosed "inferior vermian hypoplasia" on fetal MRI that went on to develop progressive obstructive hydrocephalus in infancy secondary to what was determined to be a Blake pouch remnant.

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.

Proteus syndrome is a mosaic genetic overgrowth disorder caused by a postzygotic, mosaic activating mutation in AKT1. Rare prenatal presentations include segmental tissue overgrowth, and skeletal and CNS anomalies. We present the first report of prenatally diagnosed and molecularly confirmed Proteus syndrome.

Magnetic resonance imaging of the fetal brain in monochorionic diamniotic twin gestation: correlation of cerebral injury with ultrasound staging and survival outcomes.

Background: The current staging system of twin-twin transfusion syndrome (TTTS) is based on the ultrasound criteria and does not consider the cerebral injury.

Objective: To assess the incidence of cerebral damage on fetal MRI and correlate abnormal cerebral diffusion-weighted imaging (DWI) findings with survival outcome and the ultrasound staging of TTTS.

Materials And Methods: We conducted a retrospective review of MRI/DWI of fetal brains and the electronic medical records in monochorionic diamniotic twin gestations.

Fetal magnetic resonance imaging of skeletal dysplasias.

Background: Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited.

Objective: The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias and to report MRI findings associated with specific diagnoses.

Materials And Methods: This retrospective study was approved by the institutional review board; informed consent was waived.

Prenatal aqueduct stenosis: Association with rhombencephalosynapsis and neonatal outcome.

Background And Purpose: To examine prenatal MRI and postnatal imaging in fetuses with congenital aqueductal stenosis (CAS) to determine the frequency of association of rhombencephalosynapsis (RES) and how it may affect neonatal intensive care unit (NICU) course.

Materials And Methods: A single center IRB-approved retrospective study of children with CAS was performed. Prenatal MRI, postnatal images, and clinical data were reviewed.

Decreased rectal meconium signal on MRI in fetuses with open spinal dysraphism.

Objective: To evaluate rectal meconium signal in fetuses with open spinal dysraphism and correlate findings with postnatal exam.

Methods: This is a single-institution Institutional Review Board-approved Health Insurance Portability and Accountability Act (HIPAA) compliant retrospective analysis of fetal MRIs of open spinal dysraphism from 2004 to 2016. Fetuses with diagnostic T1-weighted images and postnatal follow-up at our institution were included.

Congenital aqueduct stenosis: Progressive brain findings in utero to birth in the presence of severe hydrocephalus.

Purpose: To evaluate the effects of progressive hydrocephalus on the developing brain in a cohort of fetuses diagnosed with congenital aqueduct stenosis by comparing prenatal magnetic resonance imaging and postnatal imaging.

Methods: This IRB approved single center retrospective review of prenatally diagnosed children with congenital aqueduct stenosis interrogated changes in the brain between prenatal and postnatal imaging and analyzed statistics using SAS software package version 9.3.

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.

Fetal ventriculomegaly is a common referral for prenatal MRI, with possible etiologies being hydrocephalus and hydranencephaly. The underlying cause of hydranencephaly is unknown, but many have suggested that the characteristic supratentorial injury is related to idiopathic bilateral occlusions of the internal carotid arteries from an acquired or destructive event. Fowler syndrome is a rare genetic disorder that causes fetal akinesia and a proliferative vasculopathy that can result in an apparent hydranencephaly-hydrocephaly complex.

Abnormalities Associated With the Cavum Septi Pellucidi on Fetal MRI: What Radiologists Need to Know.

Objective: Screening the cavum septi pellucidi (CSP), more commonly referred to as the "cavum septum pellucidum," is a required component of the fetal anatomic survey during second-trimester ultrasound (US). The inability to identify the normal appearance of this structure warrants further evaluation because septal insufficiency is associated with multiple brain malformations. In this article, we discuss embryology, normal anatomy, and prenatal evaluation of the CSP as well as the differential diagnosis of associated abnormalities.

Congenital overinflation: prenatal MRI and US findings and outcomes.

Objective: The purpose is to describe fetal MR and US findings of congenital overinflation (CO) and to correlate with postnatal outcome.

Methods: Two radiologists reviewed fetal MR and US images in 25 fetuses diagnosed with CO. Lesion size, appearance, location, and presence of hydrops were documented.

Guidelines for scanning twins and triplets with US and MRI.

Multiple-fetus gestations have an increased risk of discordant anomalies, aneuploidy and growth restriction compared to singleton pregnancies. In addition, twins sharing the same placenta are at risk for developing specific conditions that are potentially amenable to surgical management. In those scenarios, patients might need to be evaluated not only with US but with fetal MRI as well.

Extrafetal Findings on Fetal Magnetic Resonance Imaging: A Pictorial Essay.

Although US is the mainstay of fetal imaging, magnetic resonance imaging (MRI) has become an invaluable adjunct in recent years. MRI offers superb soft tissue contrast that allows for detailed evaluation of fetal organs, particularly the brain, which enhances understanding of disease severity. MRI can yield results that are similar to or even better than those of US, particularly in cases of marked oligohydramnios, maternal obesity, or adverse fetal positioning.

Imaging Evaluation of Fetal Megacystis: How Can Magnetic Resonance Imaging Help?

Evaluation of the kidneys, bladder, and amniotic fluid volume forms part of any standard obstetrical ultrasound. When a fetal genitourinary anomaly is suspected, a more detailed evaluation is necessary. This detailed imaging can be challenging in the setting of decreased or absent amniotic fluid or large maternal body habitus, and in complex malformations.

Imaging evaluation of fetal vascular anomalies.

Vascular anomalies can be detected in utero and should be considered in the setting of solid, mixed or cystic lesions in the fetus. Evaluation of the gray-scale and color Doppler US and MRI characteristics can guide diagnosis. We present a case-based pictorial essay to illustrate the prenatal imaging characteristics in 11 pregnancies with vascular malformations (5 lymphatic malformations, 2 Klippel-Trenaunay syndrome, 1 venous-lymphatic malformation, 1 Parkes-Weber syndrome) and vascular tumors (1 congenital hemangioma, 1 kaposiform hemangioendothelioma).

Congenital salivary gland anlage tumor - in utero and postnatal imaging.

We present a case of an infant with congenital salivary gland anlage tumor, with fetal and postnatal imaging. To the best of our knowledge, this is the first case describing the in utero imaging findings of salivary gland anlage tumor. A fetal MRI was performed secondary to the clinical finding of polyhydramnios, which identified a nasopharyngeal mass.

Prenatal Diagnosis of Infantile Myofibroma with Postnatal Imaging Correlation.

Infantile myofibroma is the most common fibrous tumor in infancy. A majority of these lesions are solitary and occur in the head and neck region. Unless visceral sites are involved, the clinical course is typically benign.

Congenital peribronchial myofibroblastic tumor: prenatal imaging clues to differentiate from other fetal chest lesions.

We present a prenatal case of congenital peribronchial myofibroblastic tumor referred as a congenital pulmonary airway malformation (CPAM) with hydrops and polyhydramnios at 30 weeks' gestational age. US and fetal MRI findings did not fit with the referral diagnosis, raising the possibility of intrinsic lung tumor. Fetal hydrops worsened and the baby was successfully delivered by ex utero intrapartum treatment (EXIT) to resection at 31 weeks' gestational age.

Fetal MRI of cloacal exstrophy.

Background: Prenatal ultrasonographic (US) diagnosis of cloacal exstrophy (CE) is challenging.

Objective: To define the fetal MRI findings in CE.

Materials And Methods: We performed a retrospective review of eight patients with CE.

Prenatal counseling for cloaca and cloacal exstrophy-challenges faced by pediatric surgeons.

Introduction: With the advance of prenatal imaging, more often pediatric surgeons are called for prenatal counseling in suspected cases of cloaca or cloacal exstrophy. This presents new challenges for pediatric surgeons since no specific guidelines have been established so far. The purpose of this review is to analyze our experience in prenatally diagnosed cloaca or cloacal exstrophy and to provide some guidelines for prenatal counseling of these complex congenital anomalies.

Prenatal imaging of amniotic band sequence: utility and role of fetal MRI as an adjunct to prenatal US.

Background: Amniotic band sequence and its US manifestations have been well-described. There is little information, however, regarding the accuracy and utility of fetal MRI.

Objective: To describe the MRI findings in amniotic band sequence and to compare the diagnostic accuracy of MRI and US.

'Benign' ovarian teratoma and N-methyl-D-aspartate receptor (NMDAR) encephalitis in a child.

N-methyl-D-aspartate receptor (NMDAR) encephalitis is a life-threatening paraneoplastic neuropsychiatric encephalitis that predominantly affects young women and has a strong association with ovarian teratomas. Removal of the ovarian teratomas improves the prognosis and decreases the risk of recurrence. We present an 11-year-old girl with NMDAR encephalitis with small bilateral teratomas not initially appreciated on abdominal CT or pelvic MRI.

Prenatal imaging of congenital malformations of the brain.

This article represents an overview of ultrasound (US) and magnetic resonance imaging (MRI) of the normal fetal brain during the second and third trimesters, followed by the description of congenital pathologic conditions. Fetal imaging of the brain requires an understanding of embryology that defines the normal anatomy of the brain at each gestational age. Without knowledge of the normal developmental milestones, it is impossible to accurately diagnose prenatal central nervous system (CNS) disorders.