FlashFISH: "same day" prenatal diagnosis of common chromosomal aneuploidies

Methods Mol Biol. 2010:659:261-8. doi: 10.1007/978-1-60761-789-1_19.

Abstract

Fluorescence in situ hybridization (FISH) and quantitative fluorescence (QF)-PCR are rapid molecular methods that test for common chromosomal aneuploidies in prenatal diagnosis. While cytogenetic analysis requires approximately 7-14 days before fetal karyotypes are available, these molecular methods release results of sex chromosome aneuploidies, Down syndrome, Edward's syndrome, and Patau's syndrome within 24-48 h of fetal sampling, alleviating parental anxiety. However, specific diagnosis or exclusion of aneuploidy should be available within the same day of amniocentesis. We developed "FlashFISH," a low cost FISH method that allows accurate results to be reported within 2 h of fetal sampling. Here, we report our experience of using FlashFISH in prenatal diagnosis, and we illustrate in detail the protocols used for the purpose in our laboratory.

MeSH terms

  • Adult
  • Amniotic Fluid / cytology
  • Aneuploidy*
  • Chorionic Villi / pathology
  • Chromosomes / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Infant, Newborn
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Time Factors