Showing 2 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
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