Prenatal Fluorescence in situ Hybridization (FISH) Tests

FISH testing is a molecular cytogenetic analysis that identifies specific chromosomal abnormalities by evaluating presence or absence of fluorescent signals in metaphase chromosomes or interphase nuclei. FISH results for rapid diagnosis of aneuploidy are typically provided within 48 hours from the receipt of the specimen.



Clinical Indications For FISH Test

  • Advanced maternal age
  • Abnormal ultrasound
  • Abnormal maternal serum screen
  • Fetal demise
  • Family history of microdeletion/microduplication syndrome
  • Family history of chromosomal abnormality

Samples For Prenatal Chromosome Analysis

  • Amniotic Fluid
  • Chorionic Villi

Requirements Document and Requisition Form

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Types Of Prenatal FISH Studies

  • FISH For Aneuploidy and Polyploidy
  • FISH For Microdeletion/Microduplication Syndromes
  • FISH For Subtelomeric Rearrangements
  • FISH For aCGH Confirmation

Probe List

Advantages and Limitations

  • FISH testing can rapidly detect and characterize submicroscopic chromosome abnormalities.
  • FISH testing has the ability to analyze the abnormalities on metaphase chromosomes from cultured samples as well as interphase cells from specimens that cannot be cultured.
  • FISH testing has high sensitivity and specificity.
  • The main limitation of FISH analysis is that it only provides information about the specific locus or gene tested.