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

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

Research output: Contribution to journalArticle

35 Citations (Scopus)

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
StatePublished - 1999

Fingerprint

Acrocephalosyndactylia
Craniosynostoses
Second Pregnancy Trimester
Prenatal Diagnosis
mutations
Hand
Receptor, Fibroblast Growth Factor, Type 2
Syndactyly
Third Pregnancy Trimester
disorders
Missense Mutation
Intellectual Disability
Foot
Early Diagnosis
fibroblasts
Observation
genes
availability
Mutation
Genes

Keywords

  • Apert syndrome
  • DNA analysis
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

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

Cite this

Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. / Ferreira, J. C.; Carter, S. M.; Bernstein, Peter S.; Jabs, E. W.; Glickstein, J. S.; Marion, Robert W.; Baergen, R. N.; Gross, S. J.

In: Ultrasound in Obstetrics and Gynecology, Vol. 14, No. 6, 1999, p. 426-430.

Research output: Contribution to journalArticle

Ferreira, J. C. ; Carter, S. M. ; Bernstein, Peter S. ; Jabs, E. W. ; Glickstein, J. S. ; Marion, Robert W. ; Baergen, R. N. ; Gross, S. J. / Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. In: Ultrasound in Obstetrics and Gynecology. 1999 ; Vol. 14, No. 6. pp. 426-430.
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