Article
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia.
Prenatal diagnosis - 1 Aug 1996
Mesoraca A, Pilu G, Perolo A, Novelli G, Salfi N, Lucchi A, Bovicelli L, Dallapiccola B
Abstract excerpt
In a low-risk pregnant patient at 21 weeks' gestation, ultrasound revealed shortening of fetal long bones compatible with achondroplasia. Funipuncture was performed and DNA analysis of fetal blood demonstrated the presence of the GR380R fibroblast growth factor receptor 3 (FGFR3), which is specifically associated with achondroplasia. After termination of the pregnancy, necropsy confirmed the prenatal diagnosis. A...
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