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

Keywords: dysplasia, Fetal, skeletal

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

Keywords: extremity, anomaly, fetal

Bowel ultrasound is a critical component of gastrointestinal evaluation. Serial examination allows real-time assessment of disease progression or improvement, and assists the clinician in therapeutic decision making and clinical management. The goals of this exhibit are: 1. Describe the technical approach of performing bowel ultrasound. 2. Review tips, and up to date technology that assist in optimizing studies. 3. Discuss sonographic appearance of various pathologies. 4. Review future potential techniques and applications including utility of Doppler flow and contrast enhanced ultrasound. Read More

Meeting name: SPR 2019 Annual Meeting & Postgraduate Course , 2019

Authors: Cielma Tara, Durfee Teela, Bulas Dorothy, Loomis Judyta, Adeyiga Adebunmi, Bandarkar Anjum

Keywords: gastrointestinal disorder, inflammatory bowel disease, bowel