Hii, all !!!!!!!!,  very sad, nobody yet posted any comment on my very first post...while reading about Fragile X, one question stroke in my mind---mothers with no knowledge of fragile X will may have many questions in their mind before and after their genetic test...so, today I am posting some Questions which may come to your mind and their answers...

Q.1 What is my risk of being a fragile X carrier?
About 1 in 200 women is a fragile X carrier. Your chances of being a fragile X carrier may be much higher depending on your family history. If you have a family history of fragile X syndrome or of intellectual disability from an unknown cause, you are more likely to be a fragile X carrier.

Men can also be fragile X carriers, but it's usually only when the woman is the carrier that the children get full fragile X syndrome.


Q.2 Should you or your future child be tested for fragile X?
If you are pregnant and a fragile X carrier, you may want to have a prenatal test for fragile X syndrome. Fragile X testing also should be considered for anyone who has a chromosome test that shows fragile X. The chromosome test is no longer performed routinely, but if someone in your family was positive for this test in the past, that family member should consider DNA testing to confirm the results.


Q.3 Should a child with intellectual disability be tested for fragile X?
Fragile X testing should be considered for any child who has been diagnosed with intellectual disability, developmental delay or autism. This is especially true if there is a family history of fragile X or some other form of intellectual disability from an unknown cause, or if the child has any physical features that would suggest fragile X syndrome.


Q.4 If I have the fragile X gene, can I have children who don't have it?
If you are a woman carrying a fragile X pre-mutation, you have a 50% chance of passing on the affected gene to each child you have. If you are a man with a pre-mutation, you will pass it on to your daughters, but not your sons. In the unlikely event that both parents carry a pre-mutation, the chances of getting a changed gene are 100% for their daughters and 50% for their sons.


Q.5 While I'm pregnant, can I determine the risk my baby has of developing fragile X?
To discover whether your unborn child has inherited changes in the fragile X gene, you and your partner can get prenatal testing. Prenatal DNA testing is available if you have a family history of fragile X or of unexplained intellectual disability. There are two common ways of obtaining DNA from fetal cells:

   1. Chorionic villus sampling is performed early in the pregnancy — between 10 and 13 weeks. A physician takes a sample of chorionic villus cells from part of the placenta that contains fetal cells.
   2. Amniocentesis is performed after 15 weeks. The physician obtains fetal cells from the amniotic fluid that surrounds the fetus.

You can also get tested before a pregnancy using preimplantation genetic diagnosis (PGD). PGD is done by in vitro fertilization (IVF). Each fertilized embryo is tested to see if it has the fragile X mutation. Only the embryos without a mutation are implanted into the mother.

Talk with your obstetrician or a genetic counselor about your options.


Q.6 If I am a fragile X carrier, could I give birth to a girl with the disease?
There is a 100% chance a male pre-mutation carrier would pass on the gene, but his daughter would only be a carrier and not have the disease. There is a 50% chance that a female pre-mutation carrier will pass the expanded gene on to her daughter. If the number of repeats stays the same, the daughter also will be a pre-mutation carrier. If the number of repeats increases to the more than 200, then the daughter might be affected. Also, a girl with a full mutation might have symptoms of fragile X, including intellectual disability, but symptoms are less severe in girls because they have an extra X chromosome to fall back on.


Q.7 If I DON'T have the fragile X gene, can I have children who DO have the gene?
If you're not a carrier, then your children cannot inherit the gene from you. But there is always the possibility that the number of repeats in the gene could increase from one generation to the next. We all have some repeats in the FMR1 gene. It would be very unusual, however, for the gene to expand from a normal number of repeats to a full mutation in one generation.


Q.8 Is there any harm in finding out if I am a carrier?
Possibly. You may feel upset if you learn that you carry a gene that could potentially cause intellectual disability in your future children. However, it is important to note that carriers generally have normal intellectual abilities and normal appearance.

Well, i tried to cover up all probable questions, but if you have any , feel free to ask me here, and I'll also try to post some more,,,,,,,byeeee have a nice weekend.....:-)