In some cases it may be necessary to complete the basic fertility testing with genetic investigations to detect genetic and chromosomal abnormalities that may lead to sterility and infertility.

The development of the intracytoplasmic sperm injection (ICSI) changed the reproductive perspectives of lot of men and stressed the important role that genetic and chromosomal abnormalities play in male sterility or infertility and therefore the need to study them.

Genetic and chromosomal abnormalities may alter sperm production or the seminiferous tubules and hence cause sterility or infertility.

The investigations to determine if there are abnormalities are:

• Karyotype (see "Karyotype")
• Meiosis study (see "Meiosis study")
• FISH on sperm (see "FISH on sperm")
• Specific examinations such as Y chromosome microdeletion or cystic fibrosis test (CFTR).

Les anomalies genètiques poden ser causa d'esterilitat

Estudi de cariotip