Case of the Week #621

Lech Dudarewicz (1); Cerine Jeanty (2)
{1) Department of Genetics, Polish Mother's Memorial Hospital, Lodz, Poland; (2) UCSF Health, San Francisco, California, USA

Posting Dates: Jan 31, 2025 - Feb 14, 2025

A woman with no significant medical history presented at 12 weeks gestation. The patient initially had a calculated risk of 1/470 for Down syndrome, though later the noninvasive prenatal testing results were normal. The rest of scan, including limbs, was normal.

Video 1 © 2025 Lech Dudarewicz

At 21 weeks during a follow-up examination, the following images were obtained.

Video 2 © 2025 Lech Dudarewicz
Video 3 © 2025 Lech Dudarewicz

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