Fibrochondrogenesis: prenatal diagnosis and outcome.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY(2013)
摘要
We studied 20 cases with fi brochondrogenesis (FCG) diagnosed prenatally. Four cases were diagnosed at our fetal unit, and 16 cases were identifi ed through a review of literature (in English). The prenatal diagnosis of FCG was made in 4/20 (20%). Six (30%) patients opted for termination of pregnancy (TOP). A total of 13 cases delivered at term. Four (30.8%) had a caesarean section. Four neonates (30.7%) were stillborn and seven (53.8%) neonates died within 3 months. Two infants survived beyond 3 years of age, but both had severe global developmental delay. A molecular study of the surviving children revealed two null homozygous mutations in COL11A1 [c.4084C > T (p.R1362X) and c.3708 + c.437T > G]. We concluded that the prenatal diagnosis of fi brochondrogenesis is feasible. Fibrochondrogenesis is usually a fatal disease and survivors suff er from severe physical and neurological impairment.
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关键词
3D ultrasound,fibrochondrogenesis,outcome,prenatal diagnosis
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