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Sperm retrieval further testing

Men with azoospermia are at higher risk for certain inherited conditions, so the following additional tests are recommended:

Karyotyping (chromosomal analysis)

We perform a complete chromosomal analysis to check for gain or loss of any chromosomes as well as structural defects, including rearrangements (translocations), duplications, deletions and inversions. Paternal transmission of chromosome defects can result in pregnancy loss, birth defects, infertility in male offspring and other genetic conditions. Example conditions can include Klinefelter syndrome (XXY sex chromosomes) and the male XX syndrome.

Y microdeletions

Genetic defects on the Y (sex) chromosome are troublesome because they’ll inevitably be transmitted to sons. Men with non-obstructive azoospermia will be advised to check for gene deletions on their Y chromosome. If these deletions are present, it will lead to infertility or sterility in male children when they reach adulthood.

Cystic fibrosis

Cystic fibrosis (CF) is a serious congenital disease leading to severe respiratory problems in infants. Two in three men with CF will have a congenital absence of the vas deferens. In such cases we’ll test both partners for CF gene mutations. If the male is a carrier of the CF gene mutation but the female is not, the risk of their offspring developing CF is 1 in 300 (the risk in the general population is 1 in 600). If both partners carry the CF gene mutation then preimplantation genetic diagnosis (PGD) is recommended. In all such cases, we recommend having specialist genetic counselling, which is something we can arrange for you.