Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review
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Á¶ÀÎÁö(Cho In-Ji) - University of Ulsan College of Medicine Asan Medical Center Department of Obstetrics and Gynecology
½ÉÀçÀ±(Shim Jae-Yoon) - University of Ulsan College of Medicine Asan Medical Center Department of Obstetrics and Gynecology
±è±¸È¯(Kim Gu-Hwan) - University of Ulsan College of Medicine Asan Medical Center Medical Genetics Center
À¯ÇÑ¿í(Yoo Han-Wook) - University of Ulsan College of Medicine Asan Medical Center Medical Genetics Center
ÀÌÀºÁ¤(Lee Eun-Jung) - University of Ulsan College of Medicine Asan Medical Center Department of Obstetrics and Gynecology
¿øÇý¼º(Won Hye-Sung) - University of Ulsan College of Medicine Asan Medical Center Department of Obstetrics and Gynecology
ÀÌÇÊ·®(Lee Pil-Ryang) - University of Ulsan College of Medicine Asan Medical Center Department of Obstetrics and Gynecology
±è¾Ï(Kim Ahm) - University of Ulsan College of Medicine Asan Medical Center Department of Obstetrics and Gynecology
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.
Å°¿öµå
Fibroblast growth factor receptor 3 gene, Selective termination, Thanatophoric dysplasia, Twins
KMID :
0358420140570020151
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