Genetic testing is one of the most rapidly expanding areas within the treatment of male infertility. There are three genetic tests that are most commonly used in the infertile male.
Karyotyping looks at the big picture of genes. The chromosomes from a cell are literally laid out on a photograph plate and a picture is taken of them. This picture allows for visual confirmation that all the big pieces of genes are present. It looks for large changes, which can be present in up to 10% of males with very low sperm present. The most common syndrome that could be found with karyotyping would be Klinefelter’s. The sperm is sometimes retrievable in patients with this genetic disease. It is important that the couple be aware of this as a possibility before moving forward. Some couples choose not to undergo karyotyping since they feel that these types of changes would not influence their decision of having children. This information however, allows couples to make informed decisions.
Y Microdeletion Analysis Testing:
Y microdeletion analysis can be useful in patients with no sperm in their ejaculate since certain microdeletions make it very unlikely to find any sperm within the testicle. Y chromosomal microdeletions at the azoospermia factor regions have been identified as one cause of unknown male infertility. With advanced infertility treatments such as intracytoplasmic sperm injection (ICSI), the increasing risk of male children genetically inheriting the Y microdeletion makes testing important for the future parents.
Cystic Fibrosis Test:
More than 10 million individuals have cystic fibrosis, without showing any symptoms. A DNA test from a blood sample, or tissue sample (by swabbing the inside of your cheek) can reveal if the male is a carrier or not. If both the male and female partner is a carrier, there is a 25% chance that their child will have cystic fibrosis.