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Society for Pediatric Radiology – Poster Archive


Trisomy
Showing 3 Abstracts.

Germaine Colton,  Tocchio Shannon

Final Pr. ID: Poster #: EDU-036

Overview:
Fetal Hydrops is a rare complication of pregnancy, occurring in approximately 1 in 1700 to 3000 pregnancies. Given the generally poor outcomes in neonates with fetal hydrops, including high rates of miscarriage, still birth and neonatal death, early detection in these cases can be essential in helping guide decision making during pregnancy and beyond. While ultrasound is the primary screening tool in these patients, fetal MRI provides vital information in cases of hydrops that can help guide management. Few resident radiologists are exposed to these types of MRIs, many of which often have critical findings essential to guiding patient care. In this educational exhibit we will demonstrate the imaging findings of fetal hydrops on prenatal MRI with a focus on fetal hydrops in suspected trisomy 21, noting that up to 35% of fetuses with hydrops have trisomy 21. Additionally, we will review common ultrasound findings in fetal hydrops and discuss considerations for management in these cases.

Outline:
Overview of Fetal Hydrops
Review of association of fetal hydrops and trisomy 21
Discussion of early detection and screening with Ultrasound
Prenatal MRI evaluation in a case of fetal hydrops in a patient with suspected trisomy 21, using images obtained at the University of New Mexico
Checklist of commonly affected structures and findings to improve detection and patient management
Brief discussion of potential prenatal/fetal surgical interventions in these cases

Goals:
Improve awareness and recognition of the imaging findings in fetal hydrops
Provide a potential search pattern for trainees in tackling these complex cases
Discuss the association of fetal hydrops with trisomy 21
Review the utility of imaging on planning of interventions when hydrops is identified
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Authors:  Germaine Colton , Tocchio Shannon

Keywords:  Fetal MRI, Trisomy 21, Surgical Planning

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