Genetic testing

Specific fertility-related genetic tests are requested as part of investigations of severe male infertility (karyotype, microdeletions of Y chromosome, CFTR mutations), ovarian failure (karyotype, fragile X) or as preconceptional investigations to exclude the presence of recessive mutations that could cause recessive genetic disease in the offspring (CGT or carrier genetic testing).

Karyotype (for both partners)

Karyotyping or the checking of the number of chromosomes in a blood cell is simple test, which is often requested before undergoing PGT-A cycles or in case of failed IVF treatments or recurrent pregnancy losses to exclude potential chromosomal abnormalities in both genetic parents. Karyotyping is also requested in women affected by premature ovarian failure, low ovarian reserve or in males with severe oligospermia.

Fragile X screening (for the female)

Fragile X screening is performed in a female patient who is affected by premature ovarian failure or severely diminished ovarian reserve because it could be associated with both conditions and also has implications for the offspring in case of own eggs are used.

Microdeletions of the chromosome Y (for the male)

Screening for microdeletions of the Y chromosome or AZF factor is requested in males who have severe oligospermia (<5M/ml) before undergoing ICSI treatment with their sperm. If the result is positive, genetic counseling is mandatory due to potential implications for the male offspring.  

CFTR screening (for the male or both partners)

CFTR screening or carrier testing for cystic fibrosis mutations is always requested in males which have the suspicion of obstructive azoospermia (due to the congenital absence of their vas deferens). Being a carrier, implies testing of the female partner too, to exclude the possibility of having a child affected by cystic fibrosis which is a severe condition. 

Carrier genetic testing (for both partners)

Carrier genetic testing (CGT) for hundreds of recessive conditions (gene mutations) in both partners (and subsequent evaluation of their reproductive risk) is increasingly used preconceptionally for couples undergoing fertility treatment to diminish the risk of having a child affected by a recessive genetic disease. If the couple is carrier for the same genetic mutation, they need to undergo genetic counselling, and an IVF treatment coupled with PGT-M. For the same reasons, CGT is also highly recommended for patients undergoing treatment with donated gametes (eggs or sperm) so that the risk of having a donor offspring affected by any recessive genetic disease could be mitigated.