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Society for Pediatric Radiology – Poster Archive


Trisomy
Showing 2 Abstracts.

Mcclure Meghan,  Beavers Angela

Final Pr. ID: Poster #: EDU-011

Trisomy 18 (Edwards Syndrome) and trisomy 13 (Patau Syndrome) are the second and third most common chromosomal trisomy disorders, respectively, and their characteristic syndromic features have been well described; however, to our knowledge, no prenatal studies have reported the fetal MR findings of trisomy 13 and trisomy 18. For this reason, typical fetal MR features of trisomy 13 and 18 remain incompletely characterized and its role and limitations in its prenatal evaluation and diagnosis are not established in the literature.

In this cased-based, pictorial educational exhibit, we review the syndromic features of trisomy 13 and 18, and present the prenatal MR findings of six cases of trisomy 18 and three cases of trisomy 13, all confirmed by pre and/or postnatal genetic testing. We will discuss the strengths and weaknesses of prenatal MR imaging in the evaluation of trisomy 13 and 18 by comparing to prenatal ultrasound and utilizing postnatal imaging as a reference standard.

After reviewing this presentation, the learner will: (1) Be able to recognize not only the individual fetal MR appearance of abnormalities associated with trisomy 13 and 18, but recognize them as part of a trisomy syndrome. (2) Understand the strengths, limitations, and pitfalls of prenatal MR in evaluation and diagnosis of trisomy 13 and 18. (4) Become familiar with the key points and measurements that should be used in the assessment and diagnosis of the fetus with trisomy 13 and 18 and be included in the radiology report to best assist the multidisciplinary care teams in counseling the pregnant patient and providing care of the fetus and neonate with trisomy 13 and 18.
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Authors:  Mcclure Meghan , Beavers Angela

Keywords:  Trisomy, Patau syndrome, Edwards Syndrome

Bojicic Katherine,  Hamman Susan,  Hryhorczuk Anastasia

Final Pr. ID: Poster #: EDU-006

TEACHING POINTS
1. Inform radiologists of new paradigms of care for patients with Trisomy 18, emphasizing significant management changes over the past decade as well as the expanding indications for patient interventions.
2. Describe imaging findings and diagnoses encountered among patients with Trisomy 18, including CNS, cardiothoracic, gastrointestinal, genitourinary, and musculoskeletal abnormalities.
3. Explore the value of patient and family centered care while treating children with Trisomy 18, emphasizing family encounters in the radiology department.

TABLE OF CONTENTS/OUTLINE

I. Management of Trisomy 18
A. Historical background
B. Current emphasis on family-centered care
C. Expanding indications for interventions

II. Common manifestations of Trisomy 18
A. CNS: Dandy-Walker spectrum, corpus callosal abnormalities, choroid plexus cysts
B. Cardiothoracic: Cardiac anomalies, tracheobronchomalacia, diaphragmatic hernia
C. GI: Swallowing abnormalities, tracheoesophageal fistula, malrotation and omphalocele, solid organ tumors
D. GU: Horseshoe kidney, renal and ureteral obstructions, reflux
E. Musculoskeletal: Foot abnormalities, hip dysplasia, spinal segmentation abnormalities

III. Future directions
A. Evolving imaging recommendations
B. Opportunities for positive interventions with patients and families within radiology
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Authors:  Bojicic Katherine , Hamman Susan , Hryhorczuk Anastasia

Keywords:  Trisomy 18, Neonatal