An innovative test reveals the genetic causes of infertility

17 June 2016
300 Views

The causes of unexplained persistent infertility may be revealed by the first genetic test that analyzes mutations in 140 genes related to various forms of male or female infertility.

The test is named Fertilitis® and was designed by scientists of InterGenetics in Athens, who once again are pioneers and address an important gap in the treatment of infertility, which affects one in six couples of reproductive age.
As explained by Dr. Constantinos Pangalos, Director of InterGenetics and former Associate Professor of Medical Genetics at the Medical School of Necker-Enfants Malades at the University Paris V, genetic testing in couples with reproductive problems (inability to conceive, sperm abnormalities, repeated miscarriages, repeated IVF failures, etc.) is designed according to the indications.

«Genetic testing includes several different tests, which are applied systematically in order to investigate the various causes of infertility. However, even after all these tests, there still remains a gap that relates to many gene mutations known to be associated with infertility» said Dr. Pangalos. «InterGenetics is now covering this important gap by proposing a new genetic test that includes several genes associated with various forms of male or female infertility.
Pagalos

The Fertilitis® test explores in depth, making use of advanced genomic analysis through NGS technology, all mutations in 140 genes associated with various causes 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
• transport of the zygote may be disturbed or there may be implantation failure
• abortions due to recurrent chromosomal aneuploidy

«An abnormal result provides valuable diagnostic information, which in turn can reveal the cause of infertility and lead to the formation of personalized reproductive options for a successful pregnancy. The initial results of this new test are very important and encouraging. In many cases the true cause of infertility was revealed and the appropriate reproductive strategy was applied, avoiding further unnecessary testing or IVF procedures which would have been meaningless» stressed Dr. Christopher Konialis, Head of Molecular Genetics and Genomics of InterGenetics.
Τhe Fertilitis® test is performed following classic genetic tests, such peripheral blood karyotype and other specialized tests. Prior to testing, the patients must provide their informed to InterGenetics, where the test is performed. A final clinical report is issued, containing all relevant findings and recommendations for future reproductive actions, where necessary.

In cases with positive findings, the results and reproductive options are discussed in the context of a personalized clinical genetic counseling session.

General facts concerning infertility

Infertility is today one of the most serious and frequent medical and social problems, as 1 in 6 couples experience reproductive problems, 1 in 3 women over 35 are infertile and 1 in 25 men have sperm-related problems.
In ~80% of cases the problem is due to only one of the two partners (shared equally), in ~10% of cases both partners are infertile while in the remaining ~10% of cases the problem is of unknown etiology.
The good news is that in 2/3 of cases where the problem has been diagnosed, there is a solution and the couples succeed in having a child following appropriate interventions.

Exploring the causes of infertility in humans is complex and it involves the collaboration of many disciplines, depending on the indications, such as Obstetrics and Gynecology, Andrology, Genetics, etc. It explores the causes of male or female infertility, the early intrauterine growth problems of the fetus, early pregnancy loss and preimplantation genetic diagnosis.

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