Chromosome abnormalities in human arrested preimplantation embryos: a multiple-probe FISH study

Am J Hum Genet. 1994 Jul;55(1):150-9.


Numerical chromosome abnormalities were studied in single blastomeres from arrested or otherwise morphologically abnormal human preimplantation embryos. A 6-h FISH procedure with fluorochrome-labeled DNA probes was developed to determine numerical abnormalities of chromosomes X, Y, and 18. The three chromosomes were stained and detected simultaneously in 571 blastomeres from 131 embryos. Successful analysis including biopsy, fixation, and FISH analysis was achieved in 86.5% of all blastomeres. The procedure described here offers a reliable alternative to sexing of embryos by PCR and allows simultaneous ploidy assessment. For the three chromosomes tested, numerical aberrations were found in 56.5% of the embryos. Most abnormal embryos were polyploid or mosaics, and 6.1% were aneuploid for gonosomes or chromosome 18. Extrapolation of these results to all human chromosomes suggests that the majority of abnormally developing and arrested human embryos carry numerical chromosome abnormalities.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Aneuploidy*
  • Blastocyst / pathology*
  • Blastomeres / pathology*
  • Chromosomes, Human, Pair 18
  • DNA Probes*
  • False Negative Reactions
  • False Positive Reactions
  • Female
  • Fertilization in Vitro
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Middle Aged
  • Mosaicism
  • Predictive Value of Tests
  • Sex Determination Analysis / methods
  • X Chromosome
  • Y Chromosome


  • DNA Probes