Prenatal Diagnostics and Fluorescence in situ Hybridization

Fluorescence in situ hybridization (FISH) is used as an adjunct to conventional cytogenetic analysis and provides a rapid screen for detecting the most common numerical chromosome abnormalities observed in the newborn such as trisomy 13, trisomy 18, trisomy 21, aneuploidy for X or Y.

Because these studies are performed on uncultured cells, FISH results are available in 1-2 days. FISH tests are also used to detect cryptic gene rearrangements and microdeletions undetected by routine cytogenetic studies; identify marker chromosomes, and rule out chromosomal mosaicism.