The clinical application of interphase FISH in prenatal diagnosis

Prenat Diagn. 2000 Mar;20(3):215-20.


Fluorescence in situ hybridization (FISH) for five chromosomes (13, 18, 21, X and Y) detected 87 of 107 (81%) of the chromosome aberrations identified by conventional chromosome analysis applied to fetal interphase cells obtained by chorionic villus sampling or amniocentesis. The choice of FISH was solely determined by prospective parents after formal genetic counselling concerning the advantages and disadvantages of FISH analysis. Excluding known familial chromosome aberrations, if FISH analysis revealed normal signals, there was an overall residual risk of 1 in 149 for an undetectable chromosome aberration. This risk varied according to the indication for prenatal diagnosis: 1 in 177 for women of advanced maternal age; 1 in 60 for women at increased risk for Down syndrome based on maternal serum screening; and, 1 in 43 for women whose ultrasound examination revealed fetal anomalies. There were 20 cases of discordance between the FISH results and standard karyotype analysis: four were the outcome of a failure to apply the appropriate FISH probe; 16 were not detectable by the available FISH probes. Of these 16, nine were chromosome abnormalities with clinical significance and seven were familial. If FISH is to become a standard part of prenatal genetic diagnosis, genetic counselling that is sensitive to patient health needs must be based on accurate information about the biological and obstetrical implications of the results of FISH analysis.

MeSH terms

  • Adult
  • Amniocentesis
  • Chorionic Villi Sampling
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 18
  • Down Syndrome / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Interphase
  • Karyotyping
  • Maternal Age
  • Pregnancy
  • Pregnancy, High-Risk
  • Prenatal Diagnosis*
  • Risk Factors
  • Trisomy
  • Ultrasonography, Prenatal