title: Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review.
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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Inji
authors.initials: I
authors.lastname: Cho
authors.affiliation: Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea. ; Medical Genetics Center, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Jae-Yoon
authors.initials: JY
authors.lastname: Shim
authors.affiliation: Medical Genetics Center, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
authors.affiliation: Medical Genetics Center, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
authors.affiliation: Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Eun Jung
authors.initials: EJ
authors.lastname: Lee
authors.affiliation: Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Hye-Sung
authors.initials: HS
authors.lastname: Won
authors.affiliation: Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Pil Ryang
authors.initials: PR
authors.lastname: Lee
authors.affiliation: Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Ahm
authors.initials: A
authors.lastname: Kim
keywords: Fibroblast growth factor receptor 3 gene; Selective termination; Thanatophoric dysplasia; Twins