If you and your partner are struggling to have a baby, you are not alone. If you have been actively trying to get pregnant for 12 months or more (and you are under the age of 35), or 6 months (and over the age of 35), there are various testing options – like genetic testing – that may be able to explain why you are having difficulties.

Infertility is most often defined as not being able to get pregnant after one year of frequent unprotected intercourse.

If either you or your partner have a family history of certain genetic conditions or health problems, it may be beneficial to consult with a healthcare specialist early in your reproductive journey. Some factors, either personal or in your family history, that may increase your risk for infertility include:

  • A personal or family history of multiple miscarriages
  • A history of irregular periods
  • A history of absent, low, or irregular sperm
  • A personal diagnosis of a genetic condition, such as Turner syndrome, Klinefelter syndrome or cystic fibrosis

Male infertility can be caused by low sperm production, abnormal sperm function or blockages that prevent the delivery of sperm. Evaluation for males with infertility involve a thorough medical history, physical exam, semen analysis, blood work, and possibly ultrasound exams. These tests include:

Genetic testing: Genetic testing can be done to determine whether you carry a genetic change that could be impacting your fertility. The three main types of genetic testing available for men experiencing infertility are:

Genetic carrier screening (including the gene for cystic fibrosis): This test can identify individuals and couples at risk to have a child with a genetic condition by analysing their DNA to see if they are a carrier for a variety of genetic conditions. Carriers of genetic conditions typically do not have the condition themselves, but could pass it on to their children. Many carrier screening panels include the gene for cystic fibrosis (CF). Men who carry certain genetic changes in the gene for CF may have absent vas deferens, which would not allow for sperm to be transported.

Karyotype: A blood test to analyse the number and structure of one’s chromosomes. A karyotype can detect Klinefelter syndrome and chromosome rearrangements.

Y chromosome micro-deletion studies: A blood test to target if specific regions of the Y chromosome that impact sperm development are missing.

Semen analysis: A test that analyses the quantity and quality of sperm by measuring the amount of semen, the total number and concentration of sperm, and sperm movement and appearance. The semen sample is typically collected in an office setting as the analysis needs to occur within one hour of collection.

Hormone testing: A blood test to measure hormones follicle-stimulating hormone (FSH) and testosterone (T) that control sperm production. Either an excess amount or a decrease in these hormones can cause issues with sperm production.

To find out more about Genetic Screening call us today to book in for a consultation.