Journal of Assisted Reproduction and Genetics

, Volume 26, Issue 8, pp 455–460 | Cite as

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

Prenatal diagnosis in FGFR3 gene
  • M. J. Trujillo-Tiebas
  • M. Fenollar-CortésEmail author
  • I. Lorda-Sánchez
  • J. Díaz-Recasens
  • A. Carrillo Redondo
  • C. Ramos-Corrales
  • C. Ayuso



Prenatal diagnosis with ultrasound findings compatible with skeletal dysplasia due to FGFR3 mutations over a 9 year period in pregnancies and abortuses.


54 samples were studied. Aneuploidy studies were carried out on all samples. By sequencing analysis, we determined mutations for achondroplasia (ACH), hypochondroplasia (HCH), and type I and type II tanathophoric dysplasia (TD).


2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs. Neither ACH nor HCH occurred in sporadic cases.


Molecular studies in ongoing pregnancies are indicated in cases with an affected parent, a family history with positive molecular studies (maternal anxiety), and when the US finding demonstrates micromelia with a hypoplastic thorax. A protocol for tissues of abortuses should include an X-ray, pathologic anatomy, and genetic studies.


FGFR3 gene Prenatal diagnosis Skeletal dysplasias Ultrasound finding 



This group is founded by the Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER) [ISCIII, Madrid, Spain]. We would like to thank to the Fundación Ramón Areces and INERGEN (FIS PIC03/05; FIS PI05/0263) for its support.


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Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • M. J. Trujillo-Tiebas
    • 1
  • M. Fenollar-Cortés
    • 2
    • 3
    Email author
  • I. Lorda-Sánchez
    • 1
  • J. Díaz-Recasens
    • 4
  • A. Carrillo Redondo
    • 1
  • C. Ramos-Corrales
    • 1
  • C. Ayuso
    • 1
  1. 1.Department of GeneticsFundación Jiménez Díaz (CIBERER)MadridSpain
  2. 2.Departamento de GenéticaServicio de Análisis Clínicos, Hospital Clínicos San Carlos, C/ Prof Martín Lagos s/nMadridSpain
  3. 3.Predoctoral fellow in Fundación Jiménez DíazMadridSpain
  4. 4.Department of GynecologyFundación Jiménez DíazMadridSpain

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