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KMID : 0358420140570020151
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Korean Journal of Obstetrics and Gynecology
2014 Volume.57 No. 2 p.151 ~ p.154
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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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Cho In-Ji
Shim Jae-Yoon
Kim Gu-Hwan
Yoo Han-Wook
Lee Eun-Jung
Won Hye-Sung
Lee Pil-Ryang
Kim Ahm
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Abstract
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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.
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KEYWORD
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Fibroblast growth factor receptor 3 gene, Selective termination, Thanatophoric dysplasia, Twins
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