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.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Segundo Trimestre del Embarazo
/
Diagnóstico Prenatal
/
Pronóstico
/
Displasia Tanatofórica
/
Gemelos
/
ADN
/
Ultrasonografía Prenatal
/
Reducción de Embarazo Multifetal
/
Diagnóstico
/
Factor 3 de Crecimiento de Fibroblastos
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Inglés
Revista:
Obstetrics & Gynecology Science
Año:
2014
Tipo del documento:
Artículo
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