Male reproductive genetic profile

Karyotype

Men with a sperm count less than 10 million/ml may have a problem with their chromosomes so require a Karyotype test to make sure that their Karyotype is 46 XY.

Identifying such problems is important as some problems may have a negative impact on the health of the affected individual and the offspring after successful IVF.

Some of the karyotype problems necessitate Pre-implantation genetic diagnosis (PGD) during the IVF cycle in order to avoid having a baby with congenital defects.

 

Y chromosome analysis

Men with a sperm count less than 5 million/ml may also have a problem with the AZF genes on the Y chromosome. This test may influence the decision on whether or not to perform surgical sperm retrieval.

 

Cystic fibrosis screen (CFTR gene tests)

Mutations of the cystic fibrosis gene are involved in male infertility. Some causes of male infertility such as absence of the vas deferens are considered to be mild incomplete forms of cystic fibrosis disease.

It is of utmost importance to also screen the female partner of the affected male for CFTR gene mutations. If the female partner is found to be a carrier of a CFTR gene mutation, Pre-implantation genetic diagnosis (PGD) is necessary to avoid having a child with the full blown picture of cystic fibrosis disease.