In a low-risk pregnant patient at 21 weeks' gestation, ultrasound revealed shortening of fetal long bones compatible with achondroplasia. Funipuncture was perfomed 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 certain sonographic diagnosis of fetal de novo achondroplasia is rarely possible prior to viability. The specificity of the FGFR3 causative mutation has added a new diagnostic option which can be applied prenatally for diagnostic validation.
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia / Mesoraca A.; Pilu G.; Perolo A.; Novelli G.; Salfi N.; Lucchi A.; Bovicelli L.; Dallapiccola B.. - In: PRENATAL DIAGNOSIS. - ISSN 0197-3851. - STAMPA. - 16:8(1996), pp. 764-768. [10.1002/(SICI)1097-0223(199608)16:8<764::AID-PD941>3.0.CO;2-M]
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia
Pilu G.
Secondo
;Salfi N.;Bovicelli L.;
1996
Abstract
In a low-risk pregnant patient at 21 weeks' gestation, ultrasound revealed shortening of fetal long bones compatible with achondroplasia. Funipuncture was perfomed 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 certain sonographic diagnosis of fetal de novo achondroplasia is rarely possible prior to viability. The specificity of the FGFR3 causative mutation has added a new diagnostic option which can be applied prenatally for diagnostic validation.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
