Molecular cytogenetics: an essential component of modern prenatal diagnosis

Am J Obstet Gynecol. 1996 Aug;175(2):352-6; discussion 356-7. doi: 10.1016/s0002-9378(96)70145-x.

Abstract

Traditional cytogenetic studies with high-resolution banding techniques have been the mainstay of prenatal diagnosis for > 20 years. However, this approach is limited by the resolution of light microscopy, and it requires cultured cells, necessitating a significant delay in obtaining chromosome studies. The advent of molecular cytogenetics, or fluorescence in situ hybridization, has added an adjunctive tool to overcome both these limitations. During a 16-month period 35 prenatal diagnosis cases had molecular cytogenetic studies performed; 71% of the evaluations were informative. We present five of these cases to illustrate the benefits of this technique for clinical prenatal diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Aberrations / diagnosis
  • Chromosome Disorders
  • Cytogenetics
  • Female
  • Genetic Diseases, Inborn / diagnosis*
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Pregnancy
  • Prenatal Diagnosis / methods*