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

Prenatal diagnosis in FGFR3 gene

  • GENETICS
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

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

Methods

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).

Results

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.

Conclusions

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.

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Acknowledgements

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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Authors and Affiliations

  1. Department of Genetics, Fundación Jiménez Díaz (CIBERER), Madrid, Spain

    M. J. Trujillo-Tiebas, I. Lorda-Sánchez, A. Carrillo Redondo, C. Ramos-Corrales & C. Ayuso

  2. Departamento de Genética, Servicio de Análisis Clínicos, Hospital Clínicos San Carlos, C/ Prof Martín Lagos s/n, Madrid, 28040, Spain

    M. Fenollar-Cortés

  3. Predoctoral fellow in Fundación Jiménez Díaz, Madrid, Spain

    M. Fenollar-Cortés

  4. Department of Gynecology, Fundación Jiménez Díaz, Madrid, Spain

    J. Díaz-Recasens

Authors
  1. M. J. Trujillo-Tiebas
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  2. M. Fenollar-Cortés
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  3. I. Lorda-Sánchez
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  4. J. Díaz-Recasens
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  5. A. Carrillo Redondo
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  6. C. Ramos-Corrales
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  7. C. Ayuso
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Corresponding author

Correspondence to M. Fenollar-Cortés.

Additional information

Capsule Molecular cytogenetic studies are indicated and complementary to ultrasound in familial cases involving mutations in the FGFR3 gene.

Trujillo-Tiebas and Fenollar-Cortés contributed equally to this work.

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Trujillo-Tiebas, M.J., Fenollar-Cortés, M., Lorda-Sánchez, I. et al. Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience. J Assist Reprod Genet 26, 455–460 (2009). https://doi.org/10.1007/s10815-009-9339-1

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  • DOI: https://doi.org/10.1007/s10815-009-9339-1

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