Should I consider a sperm genetic test?

Infertility is a disease that affects nearly 8 – 15% of the couples. Male infertility is the main cause of infertility in around 20% of the all infertile couples. It is associated with other causes of infertility in another 30 – 40% of cases.

As we discussed in our blog post, ‘Limitations of Basic semen Analysis’, it has its limitations including the normality of genetic material of the sperms and degree of DNA damage in the sperm cells. The latter tests help in maximising the IVF success rates.

Information on the degree of damage to the sperm genetic material can be measured as Sperm DNA fragmentation Index or Sperm DFI. The normality of the genetic material carried in the sperm cell can be understood by doing Sperm aneuploidy test. It is important that we discuss these tests in more detail.

What is sperm DNA damage and sperm DNA fragmentation index (sperm DFI)?

There is a small amount of detectable sperm DNA damage in most men. This level of DNA damage in the sperms can be corrected by the egg. But in some men, especially with male infertility, the level of the sperm DNA damage is much higher. This is much beyond the repair capacity of the egg cytoplasm.

The genetic normality of the sperm cell is important for healthy development of the embryo either following natural conception or after fertility treatment. High Sperm DFI can result in:

  • Poor fertilisation rate
  • Poor quality of embryos
  • Failure of embryo implantation
  • Miscarriage

Sperm DNA damage can be tested using direct tests such as COMET assay or indirect tests. Over the past few years, a number of tests have been developed that assess the DNA content of sperm. All the versions attempt to analyse the quality of the DNA in the sperm, which may be more informative than just the semen analysis alone.

A high level of DNA fragmentation or damage can be due to various reasons such as:

  • Lifestyle
  • Advanced age
  • Varicocele infections
  • Use of certain drugs
  • Environmental pollutants
Man considering sperm genetic test

A sperm genetic test can be used to assess the damage associated with the infertility.

Surprisingly, high Sperm DFI can be seen in men with normal sperm parameters. This test is performed on the semen sample and would have to abstain for 2-5 days prior. The results might be available usually in three to four weeks’ time.

Men with high Sperm DFI can consider making lifestyle changes such as quitting smoking, abstaining from alcohol or recreational drugs, moderate caffeine intake, and other dietary changes.

They can also consider taking supplements that provide, zinc, selenium, lycopene, vitamin C, vitamin E, acetyl carnitine etc. It usually takes few months of lifestyle changes to notice an improvement in the sperm DFI.

It is also important to remember that some men may not see improvement in the DFI score despite lifestyle changes and antioxidant supplements.

What is sperm aneuploidy?

The term aneuploidy refers to the abnormal number of chromosome (structure inside the cell that carries genes). Nearly 2 to 13% of all sperm in the ejaculate can be genetically abnormal even in fertile men. However, this is increased in men whose partners are having difficulties in conceiving.

Sometimes, abnormalities with this test can be seen in men with normal basic semen analysis. This test is performed on the semen sample and the results may take approximately a fortnight. This test tells us the abnormalities with chromosome 13, 18, 21 and sex chromosome X and Y.

Some of these abnormalities might be reversed by introducing lifestyle changes, but the majority of these are irreversible. It would be advisable to speak to your specialist to understand your treatment options.

By | 2016-11-04T12:50:49+00:00 July 15th, 2016|Fertility|Comments Off on Should you consider a sperm genetic test?

About the Author:

Dr Krishna is Director of London IVF and Genetics Centre. She is a highly experienced Consultant Gynaecologist and specialist in Fertility and reproductive medicine. She manages couples with male or female cause of subfertility across the full range of complexity. She has special interest in managing patients with repeated treatment failures and those who respond poorly. She has published in professional journals and presented at national and international meetings. She is passionate in delivering best possible treatment outcomes and experience, as evidenced by patient feedback.