Second trimester ultrasound screening for chromosomal abnormalities

Prenat Diagn. 2002 Apr;22(4):296-307. doi: 10.1002/pd.307.


The use of prenatal ultrasound has proven efficacious for the prenatal diagnosis of chromosomal abnormalities. The first sonographic sign of Down syndrome, the thickened nuchal fold, was first described in 1985. Since that time, multiple sonographically-identified markers have been described as associated with Down syndrome. The genetic sonogram, involving a detailed search for sonographic signs of aneuploidy, can be used to both identify fetuses at high risk for aneuploidy and, when normal, can be used to decrease the risk for aneuploidy for a pregnancy when no sonographic markers are identified. Combining the genetic sonogram with maternal serum screening may be the best method of assessing aneuploidy risk for women who desire such an assessment in the second trimester. Trisomy 18, Trisomy 13, and triploidy are typically associated with sonographically identified abnormalities and have a high prenatal detection rate. The use of the described sonographic signs in low-risk women requires further investigation, however, patients at increased risk for aneuploidy due to advanced maternal age or abnormal serum screening can benefit from a genetic sonogram screening for sonographic signs of aneuploidy to adjust their baseline risk of an affected fetus.

Publication types

  • Review

MeSH terms

  • Aneuploidy
  • Biomarkers / blood
  • Chromosome Aberrations*
  • Chromosome Disorders / diagnostic imaging*
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 18
  • Down Syndrome / diagnostic imaging*
  • Female
  • Humans
  • Maternal Welfare
  • Pregnancy
  • Pregnancy Trimester, Second
  • Prenatal Diagnosis / methods
  • Risk Factors
  • Trisomy*
  • Ultrasonography, Prenatal / methods*
  • Ultrasonography, Prenatal / standards


  • Biomarkers