Following exclusion of trisomies 13, 18 and 21, samples are tested using fluorescence in-situ hybridization (FISH) probes specific for the familial rearrangement. This strategy will detect/exclude the major trisomy syndromes and unbalanced products of the parental balanced chromosome rearrangement.
For some carriers of balanced chromosome rearrangements there is an increased risk of chromosome imbalance in their fetus due to the random assortment of the parental derivative chromosomes at meiosis. Our testing strategy enables rapid detection/exclusion of unbalanced products of the rearrangement.
Synonyms or keywords:
Rapid aneuploidy detection, Balanced chromosome rearrangements, Carrier testing, FISH, Prenatal testing, CVS, AF.