Case of the Week # 661

Paola Quaresima (1), Aniello Di Meglio (2), Gabriele Ruffo (2), Basilio Caparello (3), Antonio Novelli (4), Umber Agarwal (5), Lech Dudarewicz (6)
(1) Azienda Sanitaria Provinciale di Cosenza, Cosenza, Italy; (2) Centro Diagnostico Di Meglio, Naples, Italy; (3) Presidio Ospedaliero "Giovanni Paolo II", Lamezia Terme, Catanzaro, Italy; (4) Laboratorio di Genetica Medica, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; (5) Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom; (6) Department of Genetics, Polish Mother’s Memorial Hospital – Research Institute, Łódź, Poland

Posting Dates: Oct 31, 2026 - Nov 14, 2026

A 43-year-old nulliparous woman with an unremarkable personal and family history conceived spontaneously. First-trimester screening performed elsewhere was reported as normal. Non-invasive prenatal testing for trisomies 21, 18, and 13 was low risk (fetal fraction 13%). At 21 weeks and 3 days, an abnormal second-trimester anomaly scan prompted detailed fetal ultrasound assessment. The following findings were identiifed. What is the most likely diagnosis?

Video 1 © 2026 Paola Quaresima
Video 2 © 2026 Paola Quaresima
Video 3 © 2026 Paola Quaresima
Video 4 © 2026 Paola Quaresima

Submit Your Answer

You must be signed in to submit an answer for this case. Sign in here.

Add to Favorites Favorite

Menu