Bone dysplasias: The prenatal diagnostic challenge

L. F. Escobar, D. Bixler, D. D. Weaver, L. M. Padilla, A. Golichowski

Research output: Contribution to journalArticle

19 Scopus citations


The prenatal diagnosis of bone dysplasias presents difficult challenges for the clinician involved in monitoring pregnancies. Such diagnoses highlights delicate ethical issues and may require difficult decision-making when the differential diagnosis includes a lethal bone dysplasia. Despite the rapid technological advances in ultrasonography, the ability to make prenatal diagnoses within this group of disorders is limited by the restricted ultrasonographic capability to appreciate fully the detailed fetal anatomy. However, we perceive that a significant further limitation involves the lack of a systematic protocol to guide the clinician in the ultrasonographic evaluation of a fetus suspected of having a skeletal dysplasia. In an attempt to aid the clinician who is evaluating these suspected pregnancies, we report here 8 cases and propose a model protocol for the ultrasonographic diagnostic approach to fetal skeletal problems in utero.

Original languageEnglish (US)
Pages (from-to)488-494
Number of pages7
JournalAmerican journal of medical genetics
Issue number4
StatePublished - Aug 3 1990
Externally publishedYes


  • skeletal disorders
  • ultrasonography

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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