Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe

Ann Genet. 2001 Oct-Dec;44(4):209-17. doi: 10.1016/s0003-3995(01)01091-7.


The objective of this study was to evaluate the prenatal detection of chromosomal abnormalities by fetal ultrasonographic examination in a large database provided by 19 Registries of Congenital Anomalies from 11 European countries. This study included 1738 cases of chromosomal abnormalities, liveborn, stillborn or termination of pregnancy regardless of maternal age from a population of 664,340 births during the period 1996 - 1998. The most frequent chromosomal anomalies were Down syndrome (n=1050), trisomy 18 (n=191), Turner syndrome (n=125), trisomy 13 (n=86), and triploidy (n=56). Fetal ultrasonographic examination resulted in the prenatal detection of 37.7% of the chromosomal abnormalities, thereby resulting in a reduction of 28.6% in their prevalence at birth due to terminations of pregnancy. The detection rate by ultrasound examination varied according to local policies of prenatal diagnosis : it was lower in countries where routine scan were not performed and higher in countries in which at least one routine anomaly scan during the second trimester of pregnancy was performed. The ultrasound detection varied according to the specific chromosomal anomaly and was lowest for Klinefelter syndrome (5.7%) and highest for triploidy (78.6%). For Down syndrome it was 26.4%. Termination of pregnancy was performed in 75.9% of the cases. Among the 655 cases detected by ultrasound, the most frequent ultrasound signs by category of chromosomal abnormalities were analysed. This study shows that ultrasound screening is an important tool in the prenatal detection of chromosomal abnormalities in Europe, leading to a significant reduction in the prevalence of livebirth children with chromosomal anomalies.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Adult
  • Artifacts
  • Chromosome Aberrations / classification
  • Chromosome Aberrations / statistics & numerical data*
  • Down Syndrome / diagnostic imaging
  • Europe / epidemiology
  • Female
  • Humans
  • Lymphangioma, Cystic / diagnostic imaging
  • Pregnancy
  • Pregnancy Outcome / epidemiology
  • Registries
  • Trisomy
  • Turner Syndrome / diagnostic imaging
  • Ultrasonography, Prenatal / statistics & numerical data*