Obstetric Ultrasound/FE Scientific and Case Report Session 1
A case report of ultrasound findings of Thanatophoric dysplasia allowing for expedited delivery planning
Monday, April 8, 2024
9:42am – 9:49am
Location: 410
Authors: Alyssa Stiff, Kirk Kerkorian School of Medicine at UNLV Megumi Akiyama, University of Nevada Las Vegas Heather Sedlacek, UNLV Health
Lethal skeletal dysplasias represents approximately 1 in 10,000 live births. The most common form is Thanatophoric dysplasia accounting for approximately one third of lethal skeletal dysplasias. Accurate prenatal US diagnosis is particularly important for lethal skeletal dysplasias in order to properly counsel patients on the neonatal prognosis, avoid unnecessary invasive interventions and neonatal palliative care planning where family’s preferences are well respected. We present a case of late prenatal diagnosis of Thanatophoric dysplasia that needed rapid intervention and decision making due to severe maternal discomfort and pending obstetric complications. Our patient presented late to care, but initial US evaluation demonstrated classic prenatal findings of Thanatrophoric dysplasia include the cloverleaf shaped cranium due to early fusion of the sutures, macrocephalic head with frontal bossing, a narrow, “bell-shaped” chest, and shortened long bones. Because of these findings along with 3-D US rendering, efficient counseling and shared decision making expedited a safe delivery where the family's wishes are respected.