Fibrochondrogenesis: Prenatal diagnosis and outcome

G. N. Bekdache, M. A. Begam, F. Chedid, L. Al-Gazali, H. Mirghani

Research output: Contribution to journalReview articlepeer-review

7 Citations (Scopus)

Abstract

We studied 20 cases with fibrochondrogenesis (FCG) diagnosed prenatally. Four cases were diagnosed at our fetal unit, and 16 cases were identified 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 fibrochondrogenesis is feasible. Fibrochondrogenesis is usually a fatal disease and survivors suffer from severe physical and neurological impairment.

Original languageEnglish
Pages (from-to)663-668
Number of pages6
JournalJournal of Obstetrics and Gynaecology
Volume33
Issue number7
DOIs
Publication statusPublished - Oct 2013

Keywords

  • 3D ultrasound
  • Fibrochondrogenesis
  • Outcome
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

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