FISH of sperm cells

Approximately, 2 to 13% of all sperm cells are genetically abnormal also in normally fertile men. There is evidence that this percentage may be increased in men who are subfertile. Studies have shown a relationship between poor sperm parameters and increased sperm cells aneuploidy. There  is no direct correlation between sperm cells morphology and aneuploidy, and indeed,  aneuploidy can also be found in sperms with normal morphology. However, particular types of morphological defects may be linked to a significant increase in sperm aneuploidy rate, including globozoospermia, amorphous heads, severe tail defects and macrocephalic or multiple head defects.

Studies have shown that sperms with a high rate of aneuploidy have a negative impact on pregnancy rate and are associated with recurrent pregnancy loss.

This test uses fluorescent in situ hybridisation (FISH) to label individual chromosomes with specific probes. The test uses the 5 standard probes  (chromosomes 13, 18 and 21, X and Y), although others are available upon specific request. The results are reported showing incidence of disomy or nullisomy for each of the autosomes and for both sex chromosomes. A sex chromosome ratio is also reported.  It usually takes about 7 working days to receive the results.