Bone dysplasias: The prenatal diagnostic challenge

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

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

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
Volume36
Issue number4
DOIs
StatePublished - 1990
Externally publishedYes

Fingerprint

Developmental Bone Disease
Prenatal Diagnosis
Pregnancy
Aptitude
Ethics
Ultrasonography
Anatomy
Decision Making
Fetus
Differential Diagnosis

Keywords

  • skeletal disorders
  • ultrasonography

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Bone dysplasias : The prenatal diagnostic challenge. / Escobar, L. F.; Bixler, D.; Weaver, David; Padilla, L. M.; Golichowski, A.

In: American Journal of Medical Genetics, Vol. 36, No. 4, 1990, p. 488-494.

Research output: Contribution to journalArticle

Escobar, LF, Bixler, D, Weaver, D, Padilla, LM & Golichowski, A 1990, 'Bone dysplasias: The prenatal diagnostic challenge', American Journal of Medical Genetics, vol. 36, no. 4, pp. 488-494. https://doi.org/10.1002/ajmg.1320360424
Escobar, L. F. ; Bixler, D. ; Weaver, David ; Padilla, L. M. ; Golichowski, A. / Bone dysplasias : The prenatal diagnostic challenge. In: American Journal of Medical Genetics. 1990 ; Vol. 36, No. 4. pp. 488-494.
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