Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population

Prenat Diagn. 2010 Jan;30(1):49-56. doi: 10.1002/pd.2411.

Abstract

Objective: To review the prevalence and perinatal management of cases of arthrogryposis delivering at our hospital over a 6-year period.

Methods: This was a retrospective review of cases of arthrogryposis managed at a UK teaching hospital. Cases were identified from the regional congenital anomalies register and departmental databases. Case notes were reviewed and analysed.

Results: From 2002 to 2007, there were 27 cases of arthrogryposis. Sixteen (59.3%) were Caucasians, 7(25.9%) Asians and 4(14.8%) Afro-Caribbean; 17(63%) were nulliparous. In eight (29.6%) cases, there was a family history of congenital anomalies. Three had previously affected siblings and in three cases the parents were affected with arthrogryposis. Five (18.5%) were from consanguineous families. Eighteen (66.7%) cases were diagnosed prenatally at a mean gestational age of 21 weeks. Twelve (57%) were delivered by caesarean section. There were 18 live births. Sixteen (59%) cases were reviewed by clinical geneticist. Following detailed review and investigation including post-mortems, 20 (74%) of our cases had a formal diagnosis or likely cause identified.

Conclusions: Suspected cases of arthrogryposis require multi-disciplinary management to optimise the possibility of making a diagnosis and providing parents with accurate information to enable them to make informed choices regarding the pregnancy and providing information regarding likelihood of recurrence.

MeSH terms

  • Adolescent
  • Adult
  • Arthrogryposis / diagnosis
  • Arthrogryposis / ethnology*
  • Arthrogryposis / therapy*
  • Asians / ethnology
  • Blacks / ethnology
  • Ethnicity*
  • Family Health
  • Female
  • Gestational Age
  • Hospitals, Teaching
  • Humans
  • Infant, Newborn
  • Pedigree
  • Pregnancy
  • Pregnancy Outcome
  • Prevalence
  • Retrospective Studies
  • Ultrasonography, Prenatal
  • United Kingdom / epidemiology
  • Whites / ethnology
  • Young Adult