ARRS 2022 Abstracts


E1730. Don’t Stress, Do Your Best: Case-Based Review of Common (and Some Uncommon) Fetal Genetic Anomalies
  1. Hassan Abou-Ghalia; University of Washington
  2. Deepashri Basavalingu; University of Washington
  3. Alp Oztek; University of Washington
  4. Sakura Noda; Seattle Children's Hospital; University of Washington
  5. Douglas Katz; NYU Langone Hospital – Long Island, NYU Long Island School of Medicine
  6. Mariam Moshiri; Vanderbilt University Medical Center
The terms "syndrome" and "genetic abnormality" outline overlapping domains of pathologies. Although a syndrome describes pathologically related findings originating from a single event, genetic abnormalities represent abnormalities of the DNA make-up, including a change in the chromosome structure or number. In this exhibit, we will review the imaging features of the most commonly encountered genetic abnormalities as well as the role of imaging in their management.

Educational Goals / Teaching Points
This exhibit aims to review the classic imaging findings of the commonly encountered genetic anomalies;.illustrate the imaging findings of the commonly encountered syndromic associations;.highlight the role of imaging in narrowing the differential diagnosis in complex fetal malformations; review the clinical and imaging approach with suggested timelines for follow-up and re-imaging to clarify findings; and discuss the role of the radiologist in the management team.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
This exhibit will discuss genetic abnormalities including: numerical chromosomal abnormalities (aneuploidies: extra- or missing chromosomes, such as trisomy 21, 18, and 13 and monosomy x; polyploidies: extra set of chromosomes, such triplodies, and molar pregnancies); structural chromosomal abnormalities (these are commonly implicated in the pathogenesis of several inherited syndromes, such as Meckel–Gruber syndrome, Beckwith–Wiedemann syndrome, OEIS complex, skeletal dysplasias); and syndromes with unclear genetic predisposition (VACTERL syndrome, Pentalogy of Cantrell, and prune belly syndrome).

There is a wide spectrum of genetic abnormalities that can be detected prenatally. Ultrasound is the imaging screening modality of choice in this context, especially when interpreted in view of laboratory evaluation targeting detection of the associated biochemical alterations. Proper understanding of the imaging features that suggest an underlying genetic abnormality is essential to reach the appropriate diagnosis and guide patient management.