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 journalArticlepeer-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 languageEnglish
Pages (from-to)764-768
Number of pages5
JournalPrenatal Diagnosis
Volume16
Issue number8
DOIs
Publication statusPublished - Aug 1996

Keywords

  • Achondroplasia
  • FGFR3
  • Funipuncture
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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