Prenatal ultrasonographic and molecular diagnosis of Apert syndrome

Prenat Diagn. 1997 Nov;17(11):1081-4. doi: 10.1002/(sici)1097-0223(199711)17:11<1081::aid-pd198>3.0.co;2-2.

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' hand 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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acrocephalosyndactylia / diagnosis*
  • Acrocephalosyndactylia / diagnostic imaging
  • Acrocephalosyndactylia / genetics
  • Adult
  • Female
  • Humans
  • Polymerase Chain Reaction
  • Pregnancy
  • Pregnancy Trimester, First
  • Risk Factors
  • Ultrasonography, Prenatal*