Predictive value of fetal ultrasonography in the diagnosis of a lethal skeletal dysplasia

Joseph H. Hersh*, Brad Angle, Marcello Pietrantoni, Vernon D. Cook, Joseph A. Spinnato, Ann L. Clark, James T. Kurtzman, Robert W. Bendon, Alexandra Gerassimides

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Background. Certain ultrasonographic findings identified in a fetus suspected of having a skeletal dysplasia may be predictive of a lethal outcome. Methods. We evaluated 27 fetuses suspected of having a skeletal dysplasia using targeted ultrasonography between 16 and 31 weeks' gestation. Clinical examination and skeletal radiography were done after delivery. Results. A skeletal dysplasia was confirmed and a diagnosis established in all but one case. The skeletal dysplasia was lethal in 23 cases and, in each case, the outcome was accurately predicted prenatally; however, three of the infants survived several months. In 11 of the 23 cases (48%), the specific diagnosis was correctly determined before birth. Ultrasonographic findings not considered to reflect a lethal outcome, were accurately predicted in two other cases. In an additional two, sonographic examination suggested a lethal osteochondrodysplasia, though both survived. Findings consistent with a lethal skeletal dysplasia included a femur length <1st centile, combined with either a bell-shaped thorax, decreased bone echogenicity, or both. Using these criteria provided a positive-predictive value for neonatal deaths of 80% (20/25), and 92% (23/25) if the three that died in infancy were included. Conclusions. In the fetus suspected of having a skeletal dysplasia, certain findings on targeted ultrasonography frequently are predictive of a lethal outcome; the ability to predict this appears greatest when more than one of these abnormalities is present.

Original languageEnglish (US)
Pages (from-to)1137-1142
Number of pages6
JournalSouthern Medical Journal
Volume91
Issue number12
DOIs
StatePublished - Jan 1 1998

ASJC Scopus subject areas

  • Medicine(all)

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