Validation of radiographic criteria for the diagnosis of down syndrome in stillborn infants

Noel R. Dasgupta, Richard M. Pauli, V. Kim Horton, Catherine A. Reiser

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

We assessed the utility of radiographic findings as aids to the diagnosis of Down syndrome (DS) in stillborn infants. The lilac index may help to confirm the diagnosis of DS in stillborn infants in whom it is suspected clinically, but in whom it cannot be confirmed cytogenetically. It also can serve as a screening procedure to select stillborns in whom fluorescent in situ hybridization of fixed tissues should be completed. An lilac index of 59°differentiates between control and affected stillborns with the highest accuracy, but false positives persist above 55°, and false negatives are common below 64°. We recommend that a conservative cutoff value of 55°be used if the radiographic data serve as the principal means of diagnosing DS in stillborn infants. A cutoff value of 64°may be appropriate if the radiographic data are used to screen stillborn infants for fluorescent in situ hybridization studies.

Original languageEnglish (US)
Pages (from-to)347-350
Number of pages4
JournalAmerican journal of medical genetics
Volume72
Issue number3
DOIs
StatePublished - Oct 31 1997
Externally publishedYes

Keywords

  • Acetabular angle
  • Down syndrome
  • Iliac angle
  • Intrauterine death
  • Lilac index
  • Pelvic measurements
  • Radiographic diagnosis
  • Stillbirth

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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