Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings

J. C. Ferreira, S. M. Carter, P. S. Bernstein, E. W. Jabs, J. S. Glickstein, R. W. Marion, R. N. Baergen, S. J. Gross

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36 Scopus citations

Abstract

Apert syndrome, an autosomal dominant disorder characterized by craniosynostosis, mid-facial malformations, symmetric bony syndactyly of hands and feet, and varying degrees of mental retardation, is most frequently caused by a de novo mutation. Two missense mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been found to account for the disorder in approximately 98% of affected patients. Seven cases of prenatal ultrasound diagnosis have been reported. Although one earlier diagnosis has been made in a familial case, sporadic cases have not been definitively diagnosed until the third trimester when craniosynostosis is usually detected. We report a second-trimester molecular diagnosis of a sporadic case, based on the ultrasound observation of fetal 'mitten hands' and craniosynostosis. We discuss the approach to such ultrasound features, given the current availability of molecular diagnosis of Apert syndrome.

Original languageEnglish (US)
Pages (from-to)426-430
Number of pages5
JournalUltrasound in Obstetrics and Gynecology
Volume14
Issue number6
DOIs
Publication statusPublished - Dec 1 1999

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Keywords

  • Apert syndrome
  • DNA analysis
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Reproductive Medicine
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynecology

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