Genetic screening

A full detailed semen analysis is limited in the information it can provide. While it gives us a lot of information about whether there are sufficient sperm moving well enough to reach the egg, it tells us nothing about the sperm’s ability to bind to the egg once it gets there, and nothing about the genetic integrity of the sperm.

Of course by far the greatest contribution from a sperm to the embryo is that of its genetic constitution, which is key to an ongoing pregnancy. Chromosome (genetic) defects are the major cause for very early embryo loss.

Causes of Genetic Abnormalities in Sperm

  • inherited or congenital defects
  • abnormal sperm development
  • infection and pus cells
  • oxidative stress
  • elevated testicular temperature
  • drug use
  • chemo- or radiotherapy
  • poor diet
  • cigarette smoking, alcohol, caffeine
  • occupational or environmental toxins
  • advanced age
  • varicocoele

Who May Benefit from these Tests?

The tests may be helpful if you have any of the following:

  • poor semen parameters
  • unexplained infertility
  • poor embryo development
  • recurrent failed IVF or ICSI treatment
  • recurrent miscarriage in partner
  • advanced age
  • varicocoele
  • exposure to harmful substances

Fortunately, there are now tests available to assess various aspects of sperm genetic integrity which may give us clues to the male contribution toward failure to conceive or recurrent miscarriage.


Fertility Testing

Have a question?

We understand that fertility is a very personal and private matter. We’re here to answer any questions you may have. Contact us to arrange an appointment or read our FAQs.

  • Blood Chromosomes (Karyotype)

    This test looks for major chromosomal defects. It is useful for prolonged unexplained infertility, recurrent miscarriage and men with sperm counts consistently lower than 5 million/ml.

  • Y-Chromosome Deletion

    This test looks for small areas on the Y chromosome that are missing and could be the cause of sperm counts consistently less than 5 million/ml.

  • Cystic Fibrosis Screening

    As many as 15% men with severely low or no sperm, may be carriers for cystic fibrosis. Men who have been diagnosed with CBAVD (congenital absence of the vas deferens) are at an increased risk of being a cystic fibrosis carrier. If you are a carrier, your partner must also be tested.

  • Sperm DNA Fragmentation

    This is a state-of-the-art test that looks for breaks in the genetic make-up of the sperm itself. There is a direct correlation between sperm DNA damage and pregnancy rates. DNA fragmentation is high in men with male factor infertility, in men with unexplained infertility and in male partners of women with recurrent early miscarriage or failed IVF/ICSI.

  • Sperm Aneuploidy

    This is another state-of-the-art test that checks sperm directly for absences or repeats of entire chromosomes. This test is useful for investigating prolonged unexplained infertility, failed IVF/ICSI, or recurrent early miscarriage.