Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review
Obstetrics & Gynecology Science
;
: 151-154, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-228427
ABSTRACT
Thanatophoric dysplasia (TD) is caused by mutation of the gene that encodes fibroblast growth factor 3 (FGFR3). Owing to the poor prognosis for TD, prenatal diagnosis is critical to optimal perinatal management. We report here a case of TD in twin pregnancy, which was prenatally diagnosed by DNA analysis following amniocentesis at 15 weeks, and was managed by selective fetal termination. Prenatal ultrasonography and molecular analysis to detect TD-specific mutations enable accurate diagnosis of FGFR3-related TD in utero and appropriate obstetrical management at early gestation during twin pregnancy.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Segundo Trimestre da Gravidez
/
Diagnóstico Pré-Natal
/
Prognóstico
/
Displasia Tanatofórica
/
Gêmeos
/
DNA
/
Ultrassonografia Pré-Natal
/
Redução de Gravidez Multifetal
/
Diagnóstico
/
Fator 3 de Crescimento de Fibroblastos
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Inglês
Revista:
Obstetrics & Gynecology Science
Ano de publicação:
2014
Tipo de documento:
Artigo
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