Key result
Prenatal ultrasound and 3D helical computed tomography successfully identified signs of achondroplasia, which was confirmed by DNA testing.
Case Report (n=1)
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Prenatal ultrasound combined with 3D-HCT and molecular methods can effectively diagnose achondroplasia.
Liao et al. (2012) conducted a case report in Achondroplasia (n=1). Ultrasound, 3D-HCT, and DNA testing was evaluated on Diagnosis of achondroplasia. Prenatal ultrasound and 3D helical computed tomography successfully identified signs of achondroplasia, which was confirmed by DNA testing.
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