Prenatal ultrasonographic and molecular diagnosis of Apert syndrome

Karen Filkins, Joseph F. Russo, Susan Boehmer, Marianne Camous, Kelly A. Przylepa, Wen Jiang, Ethylin Wang Jabs

Research output: Contribution to journalArticle

Abstract

Apert syndrome is a rare craniosynostosis syndrome with significant bilateral syndactyly of the hands and feet. Usually it is detected by ultrasonography during the third trimester unless there is a family history. We present an interesting sporadic case with features consistent with Apert syndrome detected as early as the first trimester. A first-trimester ultrasound evaluation prior to chorionic villus sampling (CVS) for maternal age 41 was within normal limits except for the suggestion of a 'mitten-like' band and proximally placed thumb. Mid-trimester ultrasound was not diagnostic; however, following the development of polyhydramnios in the third trimester, the evaluation of the digits and facial features were strongly suggestive of Apert syndrome. Amniocentesis was performed and a molecular diagnosis of Apert syndrome was made and confirmed on cord blood.

Original languageEnglish (US)
Pages (from-to)1081-1084
Number of pages4
JournalPrenatal Diagnosis
Volume17
Issue number11
DOIs
Publication statusPublished - Nov 1997

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Keywords

  • Apert syndrome
  • PCR analysis
  • Prenatal ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

Filkins, K., Russo, J. F., Boehmer, S., Camous, M., Przylepa, K. A., Jiang, W., & Wang Jabs, E. (1997). Prenatal ultrasonographic and molecular diagnosis of Apert syndrome. Prenatal Diagnosis, 17(11), 1081-1084. https://doi.org/10.1002/(SICI)1097-0223(199711)17:11<1081::AID-PD198>3.0.CO;2-2