Turner syndrome: evaluation of prenatal diagnosis in 19 European registries

Am J Med Genet A. 2004 Aug 15;129A(1):16-20. doi: 10.1002/ajmg.a.30092.

Abstract

This study evaluated the prenatal diagnosis of Turner syndrome by ultrasound examination in an unselected population from all over Europe. Data from 19 congenital malformation registries from 11 European countries were analyzed. Turner syndrome was diagnosed in 125 cases (7.2%) in a total of 1,738 chromosome abnormalities. Sixty-seven percent of cases were detected prenatally by ultrasound examination due to the presence of congenital defects. The most frequent anomalies were cystic hygroma (59.5%) and hydrops fetalis (19%). The most frequent karyotype was 45,X (81.6%) followed by different types of mosaicism (16.8%). Significant differences in congenital defects (P = 0.0003) were observed between 45,X karyotypes and 45,X mosaicism cases. Prenatal counseling for 45,X mosaicism should take into account the expectation of a milder phenotype. In 78.6% of cases diagnosed by ultrasound examination due to congenital anomalies, the pregnancy was terminated. Prenatal detection of Turner syndrome by ultrasound examination was high in this unselected population.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Congenital Abnormalities / diagnosis
  • Congenital Abnormalities / diagnostic imaging
  • Europe
  • Female
  • Gestational Age
  • Humans
  • Karyotyping
  • Maternal Age
  • Pregnancy
  • Registries / statistics & numerical data
  • Sensitivity and Specificity
  • Turner Syndrome / diagnosis*
  • Turner Syndrome / diagnostic imaging
  • Turner Syndrome / genetics
  • Ultrasonography, Prenatal / methods
  • Ultrasonography, Prenatal / standards*