Prenatal screening for chromosome abnormalities

Br Med Bull. 1998;54(4):839-56. doi: 10.1093/oxfordjournals.bmb.a011733.

Abstract

An abnormal chromosome complement (aneuploidy) contributes significantly to fetal loss during pregnancy, as well as to perinatal morbidity and mortality. The contribution of chromosomal abnormalities to fetal loss decreases as pregnancy continues with an estimated 50% of first trimester spontaneous abortions due to chromosomal abnormalities, but only 5% of stillbirths (after 28 weeks). Prenatal screening for aneuploidy (in particular Down syndrome) can be undertaken using maternal serum biochemistry, fetal ultrasound or a combination of both. In this chapter the advantages and disadvantages of screening programmes currently in use, or undergoing evaluation, will be reviewed.

Publication types

  • Review

MeSH terms

  • Biomarkers / analysis
  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Down Syndrome / diagnosis
  • Female
  • Fetal Diseases / diagnosis*
  • Genetic Testing / methods*
  • Humans
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Ultrasonography, Prenatal

Substances

  • Biomarkers