Do you have irregular cycles and finding it difficult to conceive? You visit a gynaecologist to find out your levels of Follicle Stimulating Hormone to be higher-than-normal. In such cases, your doctor may advise you to consult an infertility specialist.
After taking your history and other things into consideration, the specialist may recommend getting tested for Fragile X Syndrome.
Does this sound familiar? Are you wondering what this syndrome is, and why is it important to get tested for it?
Well, if the answer to these questions was a yes, this article will detail everything about this condition and poor ovarian reserve associated with it.
According to Dr. Hrishikesh Pai, MD, Bloom IVF Group, every woman with poor ovarian reserve should be tested for Fragile X Syndrome.
So, let’s understand more about it.
Fragile X syndrome is an inherited genetic disease that causes developmental and intellectual disabilities. This syndrome is caused by a defect in the FMR1 gene located on the X chromosome.
The mutation or defect in this FMR1 gene prevents it from producing the protein called the fragile X mental retardation 1 protein, which is crucial for maintaining the nervous system’s health.
Being a fragile X permutation carrier may increase your risk for various medical conditions, such as premature menopause.
Fragile X-associated primary ovarian insufficiency is one of the three disorders due to a change in the FMR1 gene. In this condition, your ovaries cannot function at a full capacity.
Ovaries are a crucial part of a woman’s reproductive system that contains all the eggs. These eggs are released in the uterine cavity, where they wait to be fertilized. In cases where the eggs aren’t fertilized, they pass out of the body through menstrual blood.
Besides, ovaries also produce hormones essential for the preparation and maintenance of eggs and are vital for fertility. As the woman ages, her ovaries lose certain functions and cannot release eggs. Further, the eggs also age and may not be healthy enough to support the fertilization and development of a baby.
In a woman with Fragile X-associated primary ovarian insufficiency (FXPOI), the ovaries do not function to their optimal capacity and resemble an older woman’s ovaries, both in quality and quantity of eggs.
It is also seen that 4 % – 6 % of women with infertility signs and, if not tested, can have a child with Fragile X Syndrome, which causes intellectual disability and Autism.
So, females with infertility who have got poor ovarian reserve, especially at an early age, need to be tested for Fragile X syndrome so that they can make an informed decision. Normally women with poor reserve have low AMH (anti-Mullerian hormone) levels <1.2 ng/ml, elevated FSH levels and low antral follicle count on ultrasound examination.
Some common symptoms include:
Dr. Hrishikesh Pai, MD, Bloom IVF Group, says, “While women with FXPOI have symptoms similar to those of menopause, it differs from menopause.”
Some differences are as follows:
|Women with FXPOI||Women who have completed menopause|
|Can get pregnant as their ovaries may occasionally function and release viable eggs.||Cannot conceive as the ovaries do not release eggs at all.|
|May experience a return of menstrual periods.||Cannot have menstrual periods again.|
The Fragile X Society-India was set up in 2003 as a support group for families affected with Fragile X Syndrome. Soon their mission grew to spread awareness for this lesser-known inherited condition, which affects millions of people.
“Awareness opens doors for the affected child to receive research-based targeted treatments and empowers the family with reproductive options,” says Shalini Kedia, Chairperson, Fragile X Society.
So, as mentioned earlier, FMR1 premutation carriers may get pregnant. But all carriers have a higher risk of having a baby with FXS. So, it is recommended to meet a genetic counsellor for discussing reproductive issues.
If you conceive naturally, you can do prenatal testing by undergoing a chorionic villus sampling (CVS) test at 10-12 weeks of pregnancy or an amniocentesis at 15 weeks of pregnancy. This can evaluate the genetic status of the pregnancy.
If the pregnancy is having Fragile X Syndrome then one can terminate the pregnancy after proper counselling and advice. In India, the termination of pregnancy is allowed till 20 weeks of pregnancy.
But if the patient cannot conceive naturally, you can discuss various assisted reproductive options with an infertility specialist. They may suggest alternatives such as:
“IVF with your own eggs – in which case the testing of the embryos can be done prior to the insertion of the embryo into the womb. This facility called Preimplantation Genetic Testing
You can check the interview of Dr. Hrishikesh Pai, MD, Bloom IVF Group with Shalini Kedia, Chairperson, Fragile X Society, India, here.
You can also visit here to consult Dr. Hrishikesh Pai and understand if you need to undergo Fragile X Syndrome testing.
Please note that disclosure of sex is prohibited by law and not done here.