The role of the second trimester genetic sonogram in screening for fetal Down syndrome

Semin Perinatol. 2005 Dec;29(6):386-94. doi: 10.1053/j.semperi.2005.12.003.


The Genetic Sonogram is an ultrasound examination done on second trimester fetuses that not only evaluates the fetus for structural malformations, but also searches for the sonographic markers of fetal Down syndrome. The main markers that comprise the genetic sonogram include the nuchal fold, short femur and humerus, pyelectasis, hyperechoic bowel, echogenic intracardiac focus, and any major abnormality. The absence of any marker on a second trimester scan conveys a 60-80% reduction in prior risk of Down syndrome based on advanced maternal age or serum screen risk. The presence of sonographic markers, either singly or in combination, will raise the baseline risk of Down syndrome using likelihood ratios calculated for each individual marker. Using this approach, approximately 75% of fetuses with Down syndrome can be identified by modifying the patient's baseline risk according to the results of the ultrasound. The second trimester scan will likely continue to play an important role in the future in the detection of aneuploidy.

Publication types

  • Review

MeSH terms

  • Down Syndrome / diagnostic imaging*
  • Down Syndrome / genetics*
  • Female
  • Femur / diagnostic imaging
  • Femur / embryology
  • Fetal Heart / diagnostic imaging
  • Gestational Age*
  • Humans
  • Humerus / diagnostic imaging
  • Humerus / embryology
  • Intestines / diagnostic imaging
  • Intestines / embryology
  • Kidney / diagnostic imaging
  • Kidney / embryology
  • Nasal Bone / diagnostic imaging
  • Nasal Bone / embryology
  • Nuchal Translucency Measurement
  • Pregnancy
  • Pregnancy Trimester, Second
  • Risk Factors