Clarification of premature menopause – the first genetic test in Austria to identify premature infertility

Overview

The first genetic test in Austria to identify premature infertility.

Many women already experience reduced ovarian function before the age of 40, which makes it difficult to get pregnant naturally. Premature ovarian failure (POF) is defined as the premature onset of menopause and affects about 1 to 2% of women. POF leads to complete ovarian dysfunction before the age of 40, causing symptoms normally associated with menopause to occur, such as lack of menstruation, hot flashes, sleep disorders, mood swings, and loss of libido.

Many factors can lead to premature menopause; however, the actual cause often remains unclear. Potential risk factors for developing POF include environmental influences, autoimmune diseases, genetic changes, etc.

Large international studies have identified several genetic alterations that may be associated with premature ovarian failure (Study 1, Study 2, Study 3, Study 4). Our Genetics Department at the Wunschbaby Institute Feichtinger has compiled the most important genetic factors related to premature ovarian insufficiency into one genetic test. Using state-of-the-art genetic sequencing technology called "Deep Sequencing", or Next Generation Sequencing (NGS), we can screen for these genetic factors.

Advantages

Ovarian dysfunction is conventionally diagnosed with ultrasound and is due to hormonal imbalances in the blood (high FSH and low AMH). However, the traditional diagnostical method only helps to identify ovarian insufficiency that has already manifested and is causing infertility. If ovarian function is already significantly decreased, the chance of having a successful pregnancy, as well as the chance of becoming pregnant, are extremely reduced, even after receiving fertility treatment.

Genetic testing increases the probability of diagnosing POF before the first symptoms even appear.

Women with positive test results can start making decisions in advance about their future and regarding their family plans. It’s possible to have your eggs frozen in order to maintain fertility. It is also possible to plan preventive measures for certain health risks associated with early menopause. Also, depending on the results, it may be possible to administer supportive hormones to maintain ovarian function, and there's always the option to receive egg cell donation. Your doctor will provide you with information regarding all the options available to fulfill your current or your future desire for children.

Indications

We recommend our genetic screening for premature menopause to all women currently trying to get pregnant, and those hoping to have children in the future. We especially recommend our FERTIFATE test to women with one of the following conditions:

• A relative with premature menopause
  
• Women already experiencing symptoms of premature menopause before the age of 40 (changed hormonal balance)

We also highly recommend this genetic screening to women under the age of 30 to improve life- and family planning.

Workflow

• 
  1. Blood draw
• 
  2. Chromosomal analysis
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  3. Results
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  4. Discussion of results

It usually takes three to four weeks after the date you had your blood drawn to receive your results.