title: Early prenatal diagnosis of skeletal anomalies.
abstract: OBJECTIVE
  To review experience of early prenatal diagnosis of skeletal dysplasias, and to explore diagnostic accuracy and improve management.
  
  
  METHODS
  A retrospective review of fetal medicine unit (FMU) records was performed to identify cases where a skeletal dysplasia was suspected by 14 weeks' gestation. A literature review was undertaken to ascertain cases with a diagnosis of a skeletal dysplasia in the late first or early second trimester.
  
  
  RESULTS
  Fifteen cases were identified from review of FMU records, including ten different dysplasias with a variety of inheritance patterns. Accurate prenatal diagnosis was made only in cases with a positive family history, and in one case each of thanatophoric dysplasia and Roberts syndrome. Review of the literature identified further cases. Increased nuchal translucency was reported in other cases subsequently diagnosed as having a skeletal dysplasia. In early pregnancy, common presenting features included short femora, abnormal skull shape and mineralisation, profile or chest.
  
  
  CONCLUSIONS
  Increasing use of first-trimester combined screening for Down's syndrome, with or without detailed anomaly scanning, will result in early detection of more skeletal dysplasias. Parents must be made aware that detailed postnatal pathological and radiological examination is usually required for accurate diagnosis and prediction of recurrence risks.
authors.affiliation: University College Hospitals London NHS Foundation Trust, London, UK.
authors.forename: Asma
authors.initials: A
authors.lastname: Khalil
authors.forename: Eva
authors.initials: E
authors.lastname: Pajkrt
authors.forename: Lyn S
authors.initials: LS
authors.lastname: Chitty
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology*; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging; D004480:Ectromelia / Q000000981:diagnostic imaging; D005260:Female; D005865:Gestational Age; D006801:Humans; D006972:Hypertelorism / Q000000981:diagnostic imaging; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal