Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia

Alvaro Mesoraca; Gianluigi Pilu; Antonella Perolo; Giuseppe Novelli; Nunzio Salfi; Alberto Lucchi; Luciano Bovicelli; Bruno Dallapiccola

doi: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

Alvaro Mesoraca, Gianluigi Pilu, Antonella Perolo, Giuseppe Novelli, Nunzio Salfi, Alberto Lucchi, Luciano Bovicelli, Bruno Dallapiccola

Research output: Contribution to journal › Article › peer-review

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	https://doi.org/10.1002/(SICI)1097-0223(199608)16:8<764::AID-PD941>3.0.CO;2-M
Publication status	Published - Aug 1996

Keywords

Achondroplasia
FGFR3
Funipuncture
Prenatal diagnosis
Ultrasound

ASJC Scopus subject areas

Genetics(clinical)
Obstetrics and Gynaecology

Access to Document

10.1002/(SICI)1097-0223(199608)16:8<764::AID-PD941>3.0.CO;2-M

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title = "Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia",

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.",

keywords = "Achondroplasia, FGFR3, Funipuncture, Prenatal diagnosis, Ultrasound",

author = "Alvaro Mesoraca and Gianluigi Pilu and Antonella Perolo and Giuseppe Novelli and Nunzio Salfi and Alberto Lucchi and Luciano Bovicelli and Bruno Dallapiccola",

year = "1996",

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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

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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.

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