Information about Sperm Aneuploidy


Chromosomal abnormalities may be somatic cell in origin, in which case they can be detected by a simple blood karyotype analysis. However, most sperm chromosome anomalies arise as a result of errors during meiosis, which cannot be detected by a blood karyotype analysis. These anomalies can only be detected by looking at the sperm chromosomes directly.

 

Sperm Aneuploidy and Semen Parameters

Approximately 2 to 13% of all sperm are genetically abnormal 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 aneuploidy. There  is no direct correlation between sperm morphology and aneuploidy, and indeed, sperm aneuploidy can also be found in sperm 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.

 

High Rates of Sperm Aneuploidy and Pregnancy

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

 

Measuring sperm aneuploidy

This test uses fluorescent in situ hybridisation (FISH) to label individual chromosomes with specific probes. Hundreds of sperm are assessed from one  ejaculate. There are limitations to the test as only 5 probes are currently used routinely for analysis (three of the 22 autosomes: chromosomes 13, 18 and 21, and the sex chromosomes, 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 14 days to receive the results.

 

Indications for male patients who may benefit from the test

  • unexplained infertility
  • multiple failed IVF/ICSI treatment
  • recurrent miscarriage in partner
  • raised FSH
  • oligoasthenoteratozoospermia
  • severe teratozoospermia

Causes of sperm aneuploidy

  • cigarette smoking
  • caffeine
  • alcohol
  • certain drugs
  • chemotherapy and radiotherapy treatment within the last 2 years
  • exposure to environmental and occupational pollutants
  • exposure to ionising radiation
  • advanced age

Treatment

A change in lifestyle may help to reduce these levels in sperm. However, some abnormalities may be irreversible. A recent study indicates that high folate intake may maintain lower aneuploidy rates. There are some studies to show that the use of hyaluronic acid for the selection of genetically healthy sperm for ICSI may be beneficial.

Additional information downloads:
Sperm DNA Fragmentation and Aneuploidy/Sample Information Sheet and Request Form (Word doc, 56Kb)

 

 

 

REFERENCES

 

Ramasamy R, Besada S, Lamb DJ (2014) Fluorescent in situ hybridization of human sperm: diagnostics, indications, and therapeutic implications. Fertil Steril 102(6):1534-9.


Templado C, Uroz L, Estop A (2013) New insights on the origin and relevance of aneuploidy in human spermatozoa. Mol Hum Reprod 19(10):634-43.


Emery, BR (2013) Sperm aneuploidy testing using fluorescence in situ hybridization. Methods Mol Biol 927:167-73.


Worrilow KC, Eid S, Woodhouse D, Perloe M, Smith S, Witmyer J, Ivani K, Khoury C, Ball GD, Elliot T, Lieberman J. (2013) Use of hyaluronan in the selection of sperm for intracytoplasmic sperm injection (ICSI): significant improvement in clinical outcomes--multicenter, double-blinded and randomized controlled trial. Hum Reprod. 28 (2):306-14.


Harton, GL and Tempest, HG (2012) Chromosomal disorders and male infertility. Asian J Androl. 14 (1):32-9. 


Templado, C; Doante, A; Giraldo, J; Bosch, M and Estop, A (2011) Advanced age increases chromosome structural abnormalities in human spermatozoa.Eur J Hum Genet 19 (2):145-51. 


Zhou, D; Xia, Y, Li, Y; Song, L; Hu, F; Lu, C; Zhou, Z, Sha, J and Wang, X (2011) Higher proportion of haploid round spermatids and spermatogenic disomy rate in relation to idiopathic male infertility. Urology 77 (1):77-82. 


Ioannou D and Griffin DK (2011) Male fertility, chromosome abnormalities, and nuclear organization. Cytogenet Genome Res.133 (2-4):269-79. Review.


Tempest HG and Martin RH (2009) Cytogenetic risks in chromosomally normal infertile men. Curr Opin Obstet Gynecol. 2 1(3):223-7.


Young SS, Eskenazi B, Marchetti FM, Block G and Wyrobek AJ (2008) The association of folate, zinc and antioxidant intake with sperm aneuploidy in healthy non-smoking men. Human Reprod.23 (5):1014-22. 


Carrell DT (2007) The clinical implementation of sperm chromosome aneuploidy testing: pitfalls and promises. J Androl. 29 (2):124-33. 


Huszar G, Jakab A, Sakkas D, Ozenci CC, Cayli S, Delpiano E, Ozkavukcu S (2007) Fertility testing and ICSI sperm selection by hyaluronic acid binding: clinical and genetic aspects. Reprod Biomed Online 14 (5):650-663.


Robbins WA, Elashoff DA, Xun L, Jia J, Li N, Wu G and Wei F (2005) Effect of lifestyle exposures on sperm aneuploidy. Cytogenet Genome Res.;111(3-4):371-7. Review.


Harkonen K (2005) Pesticides and the induction of aneuploidy in human sperm. Ctyogenet. Genome Res. 111 (3-4): 378-83.


Celik-Ozenci C, Jakab A, Kovacs T, Catalanotti J, Demir R, Bray-Ward P, Ward D and Huszar G (2004) Sperm selection for ICSI: shape properties do not predict the absence or presence of numerical chromosomal aberrations. Human Reprod. 19 (9):2052-2059.


Burrello N, Vicari E, Shin P, Agarwal A, De Palma A, Grazioso C, D'Agata R, Calogero AE. (2003) Lower sperm aneuploidy frequency is associated with high pregnancy rates in ICSI programmes. Hum Reprod. 18 (7): 1371-6.


Carrell DT, Wilcox AL, Lowy L, Peterson CM, Jones KP, Erickson L, Campbell B, Branch DW, Hatasaka HH.. (2003) Elevated sperm chromosome aneuploidy and apoptosis in patients with unexplained recurrent pregnancy loss. Obstet Gynecol. 101 (6):1229-35.


Robbins WA (2003) FISH (fluorescence in situ hybridization) to detect effects of smoking, caffeine and alcohol on human sperm chromosome. Adv. Exp. Med. Biol. 518:59-72.