Noonan syndrome: prenatal diagnosis in a woman carrying a PTPN11 gene mutation

J Matern Fetal Neonatal Med. 2010 Jul;23(7):688-91. doi: 10.3109/14767050903440455.

Abstract

Objective: To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene.

Study design: Case report.

Results: We detected in a pregnant woman and her child the G<A transition at position 236 in exon 3 of the PTPN11 gene causative of NS. Antenatal diagnosis was possible through ultrasonography in the 24th week of gestation.

Conclusions: Ultrasonography 3D is useful in the antenatal diagnosis of major congenital anomalies. Molecular studies should also be included to confirm the specific diagnosis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Genetic Testing
  • Heterozygote
  • Humans
  • Imaging, Three-Dimensional
  • Mutation* / physiology
  • Noonan Syndrome / diagnosis*
  • Noonan Syndrome / genetics
  • Pregnancy
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*
  • Ultrasonography, Prenatal* / methods

Substances

  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11