EP07.03: Early insights: unravelling unique Trisomy 18 patterns in 11–14 week scans

Early detection of trisomy 18 during the 11–14-weeks is crucial for providing parents with accurate information and facilitating decision regarding pregnancy management. In this case, the presence of unusual manifestations on ultrasound prompted further confirmatory testing, ultimately leading to the diagnosis of trisomy 18. We present a 32-year-old gravida 2, para 1 woman presented for first trimester scan with unremarkable medical history. Ultrasound examination at 13 -14 weeks showed increased echogenicity of thalamus, midbrain and brainstem (see figure 1). Dilated lateral ventricles (see figure 2) seen with ratio of length of choroid plexus to length of lateral ventricles being 0.4. Hands seen kept in persistent clenched position (see figure 3). Fixed flexion deformity seen at bilateral hip and right knee joints (see figure 4). Face showed bilateral small sized orbits (see figure 5). Ears were low placed (see figure 6). Cleft of the palate also observed (see figure 7). Cardiac screening revealed AVSD, calcification of interventricular septum, ventricular walls and tricuspid valve (see figure 8). Based on the poor prognosis, parents opted for termination. Autopsy (see figure 9) revealed the same findings as seen on ultrasound and fetal brain showed white chalky calcification and fluid between skull vault and cerebrum. Cardiac chambers and tricuspid valve also showed calcification. On histopathology, trisomy 18 with associated dystrophic calcification was seen (see figure 10). Recognising unusual brain manifestations of trisomy 18 on ultrasound during the 11-14 week gestational period can aid in timely diagnosis and comprehensive prenatal counselling for affected families. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.