Utilization of FISH technology in prenatal diagnosis to detect chromosomal aneuploidy

Improved screening programs and better ultrasound technology identified more pregnant women at an increased risk to have a child with a chromosome abnormality. This creates a greater need for an accurate, reliable testing method that does not involve a prolonged waiting period for results. With the advent of Fluorescent in situ hybridization (FISH) techniques, non-replicating cells can be used to accurately diagnose common chromosomal aneuploidies. FDA approval of a standardized FISH test for chromosomes 13, 18,21, X, and Y has expanded the application in prenatal diagnosis. FISH can provide rapid relief of parental anxiety in high-risk pregnancies and additional genetic information when cytogenetics results are ambiguous. FISH cannot provide information about structural rearrangements and complex mosaicism. Integration of FISH analysis into an ethical prenatal testing protocol will enhance the delivery of genetics services.