The purpose of this genomic test is to determine whether one or both reproductive partners, depending on indications and prior reproductive history, harbor potentially pathogenic mutations in any of the ~140 genes associated with gonadal dysfunction, or other abnormalities linked to unexplained infertility, early pregnancy loss and repeated assisted reproduction (IVF) failures.
Approximately 1 in 4 couples is affected by infertility and the causes are equally attributed to the female and male partner. Although in ~70% of cases the underlying cause is eventually uncovered, in the remaining ~30% the true cause remains mostly unknown, leading to empirical and often frustratingly ineffective reproductive strategies. In unexplained infertility genetic abnormalities are likely to be present, but are usually not detected by current methods.
The Fertilitis® genomic test analyzes, through massive parallel sequencing, the DNA of ~140 carefully selected genes (gene list to be updated and expanded depending on new scientific knowledge), which are known or suspected to be linked to various forms of female and/or male infertility, such as:
- the oocyte is not released at the optimum time for fertilization,
- the oocyte may not enter the fallopian tube,
- the sperm may not be able to properly fertilize the oocyte,
- implantation failure
Knowledge of the cause of infertility in a couple, by identifying a causative gene mutation in any of the tested genes through application of the Fertlitis® genomic test, following expert clinical genetic evaluation for each case, may permit the design of a personalized reproductive protocol and the subsequent birth of a child.
Testing is preceded by a personalized counseling session of the couple with our medical genetics team, in order to communicate the nature, purpose and limitations of the test and to provide written consent (informed consent).
Testing requires a biological sample (blood or saliva) from the reproductive partner to be tested. The sample(s) is shipped to our laboratory where genomic DNA is extracted, followed by exome enrichment for the ~140 genes and massive parallel sequencing (also known as Next Generation Sequencing – NGS). Sequence reads are then aligned and mapped to the human genome reference sequence and all variants and putative mutations are prioritized through a proprietary in-house bioinformatics pipeline.
Only known pathogenic or obligatory pathogenic (nonsense, frameshift, consensus splice-site) mutations will be reported, together with a full clinical assessment and clinical genetic evaluation.
A final clinical report is released, containing all the relevant findings and recommendations for further actions, where applicable. Positive findings and reproductive options are discussed in the context of a personalized genetic counseling session.