Prenatal sonographic diagnosis of skeletal dysplasias - A report of the diagnostic and prognostic accuracy in 35 cases

G. Gaffney, N. Manning, P. A. Boyd, V. Rai, S. Gould, P. Chamberlain

Research output: Contribution to a Journal (Peer & Non Peer)Articlepeer-review

70 Citations (Scopus)

Abstract

Sonographic assessment of the skeleton is a routine part of fetal anomaly scanning. We report a series of 35 cases seen during a 7-year interval in which a skeletal dysplasia was suspected prenatally. In seven (20 per cent) of the 35 cases, a specific diagnosis could not be made either pre- or postnatally. Follow-up was incomplete in one case. In 32 (91 per cent) of the 35 cases, prenatal sonographic examination correctly predicted the prognosis, although in only 11 (31 per cent) of the 35 cases was the suggested prenatal diagnosis proven to be correct. The difficulty of making an accurate prenatal sonographic diagnosis in fetuses with suspected skeletal dysplasias throughout gestation, especially in the third trimester, and the importance of comprehensive multidisciplinary postnatal assessment in these cases are emphasized.

Original languageEnglish
Pages (from-to)357-362
Number of pages6
JournalPrenatal Diagnosis
Volume18
Issue number4
DOIs
Publication statusPublished - Apr 1998
Externally publishedYes

Keywords

  • Prenatal diagnosis
  • Skeletal dysplasia
  • Ultrasound

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