Showing 8 Abstracts.
The purpose of this case series is to describe the variable prenatal presentation of lethal and nonlethal hypophosphatasia, obstetrical outcomes, and postnatal course of the nonlethal cases. 5 genetically proven cases of hypophosphatasia were evaluated in our fetal imaging center from 2009 to 2016 and initially imaged between 17 weeks and 34 weeks gestation. The prenatal imaging, prenatal testing, pregnancy outcome, and postnatal or autopsy imaging and genetic testing are reviewed in this case series. All 5 cases were referred with a high suspicion of a skeletal dysplasia. Fetal sonography demonstrated a spectrum of bowing, shortening, and acute fractures of the long bones, variable involvement of the upper and lower extremities, and axial skeleton involvement. Of the 5 cases, 3 were nonlethal. Postnatal imaging in these cases was concordant with the prenatal assessment of variable mild limb shortening and bowing and without involvement of the axial skeleton. Case 4 was terminated at 20 weeks due to severe micromelia and irregular long bones with postmortem radiographs demonstrating shortening and fractures with severe demineralization of the skull. Case 5, first evaluated at 29 weeks gestation demonstrated severe bowing and shortening of the long bones, a small chest circumference with beading of the ribs. Postnatal radiographs demonstrated spurs in the midshafts of the fibula and ulna with severely demineralized skull. The infant died in the immediate postnatal period. Read More
Meeting name: SPR 2017 Annual Meeting & Categorical Course , 2017
Authors: Loomis Judyta, Bulas Dorothy, Rubio Eva, Blask Anna
The purpose of this study is to describe the MR and US prenatal imaging features and associated anomalies of unilateral pulmonary agenesis, as well as characterize the morbidity and mortality in postnatal life. Read More
Meeting name: SPR 2017 Annual Meeting & Categorical Course , 2017
Authors: Rubio Eva, Blask Anna, Loomis Judyta, Bulas Dorothy
To describe the prenatal imaging appearance of Congenital Vertical Talus (CVT) by US and MRI and detail the associated anomalies and outcome. The postnatal imaging appearance will also be discussed. Read More
Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016
Authors: Mehta Nimisha, Bulas Dorothy, Blask Anna, Rubio Eva
Keywords: Congenital Vertical Talus, Rocker bottom foot, Fetal anomalies, Congenital Talipes Equinovarus, Clubfoot
The purpose of this exhibit is to depict the prenatal imaging features of isolated intra-oral lesions, describe delivery course, and correlate with final diagnoses. Read More
Meeting name: SPR 2017 Annual Meeting & Categorical Course , 2017
Authors: Rubio Eva, Blask Anna, Loomis Judyta, Bulas Dorothy
Differentiating levels of small bowel obstruction in the fetus and predicting the outcome remain challenging. Our goal is to characterize imaging details which suggest the level of obstruction or a potentially complex postnatal course. Read More
Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016
Authors: Rubio Eva, Blask Anna, Bulas Dorothy, Badillo Andrea
Keywords: jejunal, ileal, obstruction
To assess if malrotation of the bowel can be detected on prenatal MRI. Read More
Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018
Authors: Fagen Kimberly, Blask Anna, Rubio Eva, Loomis Judyta, Bulas Dorothy
Keywords: Malrotation, Heterotaxy, Fetal MRI
Congenital anomalies causing lower extremity shortening can result from dysgenesis or agenesis of the bones of the thigh, leg or foot; they are generally a very uncommon occurrence, with an incidence on the order of one case per 1,000,000 to one case per 100,000 births. These conditions result in varying degrees of morbidity, ranging from gait dysfunction to complete lack of the ability to ambulate. The accurate characterization of such an anomaly may be challenging prenatally, but can have significant impact on prognosis and treatment planning. We present a collection of cases depicting the spectrum of prenatally diagnosed anomalies of limb development, including proximal focal femoral deficiency, multiple cases of varying degrees of fibular and tibial hemimelia, amniotic band syndrome, benign uterine packing, neurofibromatosis, clubfoot anomaly and rocker bottom foot, all of which were evaluated on prenatal ultrasound and/or fetal MRI. Accurate prenatal diagnosis is extremely important for prognosis, treatment planning and risk-stratification for associated congenital anomalies. The purpose of this poster will be to highlight the imaging features by both fetal MRI and prenatal US, discuss potential diagnostic pitfalls and review the clinical implications of this interesting spectrum of congenital disorders. We will describe a methodical approach to assessment of these patients. Our recommendations include: prenatal US to include a complete set of bilateral long bone and foot length measurements; lateral and footprint views of the fetal foot; views of both tibiae and fibulae bilaterally; views of the spine and upper extremities, a thorough search for other abnormalities; fetal MRI for complex cases or when US findings are limited; and a complete family and maternal history, including notation of family stature. Examples of the classic appearance of these conditions will be presented. Several missed diagnoses and the lessons learned will also be discussed. Counseling points addressed by the orthopedic surgeon will be included. Outcome management will be reviewed. Read More
Meeting name: SPR 2019 Annual Meeting & Postgraduate Course , 2019
Authors: Becker Richard, Rubio Eva, Bulas Dorothy, Blask Anna, Loomis Judyta, Oetgen Matthew
Background: Disorders of sexual development (DSD) resulting in ambiguous genitalia are a rare spectrum of anomalies that have the potential to be diagnosed prenatally using a combination of genetic testing and imaging. The incidence of prenatal detection is rising with the increased use of noninvasive prenatal testing, which can reveal discordance between genotype and phenotype. Sonographic and MR imaging contribute to prenatal assessment of disorders of DSD and may narrow the differential diagnosis and facilitate prenatal testing and postnatal evaluation. The goals of this exhibit are: 1. Review imaging features of normal prenatal male and female genitalia. 2. Review imaging patterns of ambiguous genitalia. 3. Discuss changes in appearance with various pathologies, providing imaging examples. 4. Review different categories of disorders of sexual differentiation and see how imaging may narrow the differential diagnosis. Read More
Meeting name: SPR 2019 Annual Meeting & Postgraduate Course , 2019
Authors: Cielma Tara, Blask Anna, Rubio Eva, Loomis Judyta, Menzel Meg, Bulas Dorothy
Keywords: ambiguous genitalia, dsd, prenatal