The World Health Organization (WHO) defines infertility as the inability of a couple to achieve conception despite regular and unprotected sexual intercourse over a period of 12-24 months. Infertility affects approximately 15-20% of couples and can be due to female factors, male factors, or causes present in both partners.
Causes of infertility can range from environmental and general factors, immunological factors, endocrine causes, infections, endometriosis, varicocele, testicular pathologies, neuroendocrine pathologies, alterations in cervical mucus, anatomical and functional defects, acute and chronic infections of the urogenital system, to genetic causes. In 25-30% of cases, a cause cannot be identified.
In gynecology, multidisciplinary pathways for the diagnosis and treatment of infertility are increasingly being developed. Currently, assisted reproductive technology (ART) pathways are also available.
At the Genetics Laboratory of Arsbiomedica Clinic, various types of tests for male and female infertility can be performed:
For all infertile couples, cytogenetic analysis of an individual’s chromosomal complement investigates the presence of structural and/or numerical alterations in chromosomes that may lead to fertility impairment, whether male or female.
Cystic Fibrosis (CF) is a serious and common condition caused by mutations in the CFTR gene, located on chromosome 7, which encodes for a chloride channel. The transmission mechanism follows an autosomal recessive pattern, whereby two mutated copies of the CFTR gene are necessary to cause the condition, while in cases where only one of the two copies of the CFTR gene is mutated, individuals are carriers. A couple of carriers has a 25% risk of transmitting both altered copies to their children, and therefore of having an affected child. In Italy, there is a high prevalence of CF carriers, estimated at around 1/30. Such analysis is recommended for all infertile couples.
The test consists of the analysis of three microdeletions on the long arm of the Y chromosome (Azoospermia Factor: AZFa, AZFb, AZFc), which have been found in 7.5% of males with infertility and are particularly associated with azoospermia or severe oligozoospermia. This analysis is indicated exclusively as a diagnostic test in patients with azoospermia or severe oligozoospermia (< 5 million/ml) and normal karyotype.
The Fragile X Syndrome is one of the most prevalent hereditary diseases in the general population, characterized by intellectual disability and neurobehavioral disorders. The genetic test for Fragile X Syndrome evaluates the expansion status of CGG repeats in the FMR1 gene and is recommended for women with premature ovarian insufficiency (POI), as approximately 20% of women with a premutation allele of the FMR1 gene have been found to have POI.
Fragile X Syndrome is transmitted in an X-linked manner, so the condition generally manifests in male subjects, while female subjects are carriers of the gene without displaying symptoms.
Why undergo a genetic test for infertility?
Genetic tests for infertility are valuable for assessing the possible existence of a genetic cause underlying couple infertility. Additionally, if pathological results emerge, individuals would have more information on how to best manage their reproductive risk in any future pregnancies.
When is it recommended?
The test is advised in cases where investigating the causes of infertility is desired and is indicated within the context of assisted reproductive technology.
How is the genetic test for infertility conducted at Clinica Arsbiomedica?
For the execution of the test, a blood sample is required. Prior to and following the test, a consultation with a Geneticist is scheduled to provide all pertinent information.
How to prepare?
Fasting is not necessary. It is recommended to bring along any clinical examination reports related to infertility that have been previously conducted.
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