Probes: Centromere 1 (1p11.1-q11.1) | Centromere 11 (11q12)
Disease(s): Complete molar pregnancy vs. partial mole
This test is available on a global basis only.
Ploidy FISH for Molar Pregnancy analyzes copy number of the chromosome 1 centromere and chromosome 11 centromere to assess triploidy (associated with partial molar pregnancy) vs. diploidy (associated with complete molar pregnancy when pathology is consistent).This is an indirect analysis of products of conception (POC) ploidy based on the assumption that trisomy 1 along with trisomy 11 indicates triploidy. An isolated trisomy 1 is extremely rare event and trisomy 11 is an almost negligible incidence; therefore the presence of a combination of the two in the absence of triploidy is expected to be a nearly non-existent event.
An alternative test that can assess ploidy of multiple chromosomes as well as maternal vs. paternal inheritance is the molecular DNA Fingerprinting Analysis. A maternal blood sample is required for DNA Fingerprinting, but not for Ploidy FISH.
Bone Marrow Aspirate: N/A
Peripheral Blood: N/A
Fresh, Unfixed Tissue: N/A
Paraffin Block: H&E slide (required) plus paraffin block.
Cut Slides: H&E slide (required) plus 4 unstained slides cut at 4-5 microns.
Note: Specimen must contain villi and/or fetal tissue.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.