Clinical Experiences of Molecular Genetic Evaluation of Achondroplasia in Prenatal and Neonatal Cases
Journal of Genetic Medicine
;
: 38-42, 2013.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Acondroplasia
/
Polimorfismo de Fragmento de Restrição
/
Reação em Cadeia da Polimerase
/
Estudos Retrospectivos
/
Aconselhamento
/
Gestantes
/
Receptor Tipo 3 de Fator de Crescimento de Fibroblastos
/
Feto
/
Hospitais Gerais
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Recém-Nascido
/
Gravidez
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2013
Tipo de documento:
Artigo
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