Clinical Experiences of Molecular Genetic Evaluation of Achondroplasia in Prenatal and Neonatal Cases
Journal of Genetic Medicine
;
: 38-42, 2013.
Article
in English
| WPRIM
| ID: wpr-83943
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 ANDMETHODS:
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Achondroplasia
/
Polymorphism, Restriction Fragment Length
/
Polymerase Chain Reaction
/
Retrospective Studies
/
Counseling
/
Pregnant Women
/
Receptor, Fibroblast Growth Factor, Type 3
/
Fetus
/
Hospitals, General
Type of study:
Diagnostic study
/
Observational study
/
Prognostic study
Limits:
Female
/
Humans
/
Infant, Newborn
/
Pregnancy
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2013
Type:
Article
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