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.
| Original language | English |
|---|---|
| Pages (from-to) | 764-768 |
| Number of pages | 5 |
| Journal | Prenatal Diagnosis |
| Volume | 16 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - Aug 1996 |
Fingerprint
Keywords
- Achondroplasia
- FGFR3
- Funipuncture
- Prenatal diagnosis
- Ultrasound
ASJC Scopus subject areas
- Genetics(clinical)
- Obstetrics and Gynaecology
Cite this
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia. / Mesoraca, Alvaro; Pilu, Gianluigi; Perolo, Antonella; Novelli, Giuseppe; Salfi, Nunzio; Lucchi, Alberto; Bovicelli, Luciano; Dallapiccola, Bruno.
In: Prenatal Diagnosis, Vol. 16, No. 8, 08.1996, p. 764-768.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia
AU - Mesoraca, Alvaro
AU - Pilu, Gianluigi
AU - Perolo, Antonella
AU - Novelli, Giuseppe
AU - Salfi, Nunzio
AU - Lucchi, Alberto
AU - Bovicelli, Luciano
AU - Dallapiccola, Bruno
PY - 1996/8
Y1 - 1996/8
N2 - 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.
AB - 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.
KW - Achondroplasia
KW - FGFR3
KW - Funipuncture
KW - Prenatal diagnosis
KW - Ultrasound
UR - http://www.scopus.com/inward/record.url?scp=0029801595&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029801595&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1097-0223(199608)16:8<764::AID-PD941>3.0.CO;2-M
DO - 10.1002/(SICI)1097-0223(199608)16:8<764::AID-PD941>3.0.CO;2-M
M3 - Article
C2 - 8878289
AN - SCOPUS:0029801595
VL - 16
SP - 764
EP - 768
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
SN - 0197-3851
IS - 8
ER -