J Genet Med.  2013 Jun;10(1):38-42. 10.5734/JGM.2013.10.1.38.

Clinical Experiences of Molecular Genetic Evaluation of Achondroplasia in Prenatal and Neonatal Cases

• Kwak DW
• Kim HJ
• Park SY
• Ahn HS
• Chae YH
• Kim MY
• Lee YH
• Ryu HM

• KMID: 2055577
• DOI: http://doi.org/10.5734/JGM.2013.10.1.38

Abstract

PURPOSE
The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to confirm ACH.
MATERIALS AND METHODS
The medical and ultrasonographic records of 16 pregnant women, who had molecular genetic testing for ACH performed on their fetus or neonate at the Cheil General Hospital between February 1999 and April 2013, were retrospectively analyzed. Detection of G1138A and G1138C mutations of the fibroblast growth factor receptor 3 (FGFR3) gene was accomplished by polymerase chain reaction - restriction fragment length polymorphism analysis.
RESULTS
Of the eight fetuses and two neonates who were suspected of having ACH during pregnancy, four fetuses and one neonate was confirmed to have ACH and they all carried the heterozygous G1138A mutation. Out of 6 cases which had a history of ACH in prior pregnancies, three had genetic information for the previous fetuses while the other three did not. All six fetuses had no mutations at G380R. However, the one fetus of pregnant woman with non-confirmed ACH showed shortened long bone on ultrasound thereafter and the fetus was identified as having oto-spondylo-megaepiphyseal dysplasia after birth.
CONCLUSION
Korean patients with achondroplasia have the heterozygous G1138A mutation that is most commonly defined in other countries. Molecular genetic evaluations of ACH are helpful not only for establishing diagnosis but for appropriate counseling with subsequent pregnancies.

Keyword

Achondroplasia; Prenatal diagnosis; Ultrasonography; Fibroblast growth factor receptor 3 gene

MeSH Terms

Achondroplasia
Counseling
Female
Fetus
Hospitals, General
Humans
Infant, Newborn
Molecular Biology
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Pregnancy
Pregnant Women
Prenatal Diagnosis
Receptor, Fibroblast Growth Factor, Type 3
Retrospective Studies
Receptor, Fibroblast Growth Factor, Type 3