IBgen FOP: Ovarian failure genetic Study

Massive sequencing fertigenetic analysis identifies the mutations associated with ovarian insufficiency to offer a correct diagnosis to individualized most adequate assisted reproduction treatments and achieve pregnancy.

Estudio genético del fallo ovárico - Instituto Bernabeu

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What is the premature ovarian failure (POF)?

Is the early depletion of eggs produced due to partial or total stop of the ovary function. About 1% of women under the age of 40 suffer from premature ovarian failure (POF) or also known as primary ovarian insufficiency (POI).

This early menopause main symptom is the lower frequency of the period or its absence (amenorrhea) and the consequent alteration of hormonal levels. It implies the impossibility of achieving pregnancy; and a lack of estrogens that cause hot flashes, insomnia, mood swings, vaginal dryness, lack of sexual desire.

 

How can this fertigenetic test help me?

IBgen POF is a fertgenetic study that performs a diagnostic approach that allows us to identify if there is a genetic cause responsible for primary ovarian insufficiency (POI). If so, it allows the medical team to treat it appropriately in order to design a personalized in vitro fertilization (IVF) treatment.

20% of cases, this pathology can be caused by chromosomal or genetic alterations, autoimmune disorders or external factors. But in most patients the cause is unknown and in up to 80% of cases it could be an undiagnosed genetic cause. Hence the importance of fertigenetic studies to discover new genes involved in primary ovarian failure.

A correct diagnosis of ovarian failure leads us to the origin of infertility; if it is early detected, it allows planning, either early in maternity or deciding to vitrify eggs. And at the same time, prevent problems of early menopause such as osteoporosis or cardiovascular problems.

 

How is genetic analysis for ovarian failure performed and what does it consist of?

Obtaining the sample is very simple, it only requires a blood draw or a saliva sample from the patient. Later in the laboratory, the DNA is processed to know the sequence of the genes included in the fertigenetic study. The bioinformatics analysis then identifies the genetic mutations in the patient that are causing the ovarian failure.

 

The most complete genes analysis

Applying the massive sequencing technology or Next-generation sequencing NGS, is possible to analyse all the possible variants of a total of 512 genes. Therefore, it is the most complete fertigenetic genes study related to the low reserve currently available.

This analysis is supported by the conclusions of the studies carried out by the Instituto Bernabeu’s low ovarian response research group, in which a significant number of patients with an identified family history of low ovarian reserve have been analysed and new candidate genes identified.

 

Exclusive design for your in vitro fertilization (IVF) treatment

The analysis of the NGS massive sequencing panel of genes involved in the development of the ovarian follicle, cell division and DNA repair allow us to offer reproductive fertigenetic advice adapted to the individuality of each patient. Its purpose is to obtain correct therapeutic guidance prior to the design of your assisted reproduction treatment, which allows the best results in the face of pregnancy.

 

Who is the fertigenetic study of ovarian failure recommended for

This study of the genetic variants involved in ovarian failure (POF) is indicated for:

  • Patients who have been diagnosed with premature ovarian failure (POF) or premature ovarian insufficiency (POI).
  • Patients who have a low oocyte response in relation to the age group to which it belongs.
  • Women with a family history of ovarian failure who want to cryopreserve their eggs as a preventive and anticipatory measure for future motherhood.
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