Aneuploidy or abnormal increase or decrease is chromosome number results in major genetic defects. The detection of chromosomal abnormalities in five specific chromosomes (13,18,21,X and Y) could be done using Fluroscent In situ Hybridization (FISH) to get a result in short time. Karyotyping is useful in identification of numerical disbalance in the number of chromosomes and also detectincting chromosomal structural abnormalities.

A combination of FISH and Karyotyping can help in getting an early answer as well as a comprehensive diagnosis.