Fragile X

MrsMommyQ

We went today for our genetic "counseling" session which is mandatory before the NT scan. We found out I'm at the intermediate level for Fragile X. I'm not a carrier, but my number is high. It wont affect our baby, but it could affect the baby's kids (our grandkids). Anyone else have this?

arlegs

Never even heard of it. What is it?

Skruffy

I've never heard of it. It sounds like it should be an episode of Fringe.

Wilwarin

I surprised you two haven't heard of it, but maybe it's because I have a medical background and took lots of biology courses in college. 

MrsMommyQ

Fragile X is caused by an abnormality in the X chromosome. If you are a carrier your child could have mental retardation from severe to slight....as slight as just a learning disability.

I'm not a carrier, but my I'm considered "intermediate". My number was 1 point higher than the normal range.

CinnamonBun

I don't have it, but I have taken a few trainings that have touched on Fragile X. I'm sorry to hear that. Were they able to give you any more information or anything?

Sunflower730

I was told by my doctor if both sides of our family don't carry it thru the generations than they would not test for it.

 

gringa78

It often affects boys more than girls because when you have an XX pair (girls) the sperm X makes up for the woman's fragile X...if you have a fragile X and a Y (boys) there is no healthy X to make up for the poor one.

It is a syndrome that affects cognitive, language, and social development.  It is good that you know your family will be at risk so they can get genetic counseling when it comes time for them to start their families.  They could do IVF with PGD to avoid having a baby with the disorder.

MrsMommyQ

CinnamonBun:

I don't have it, but I have taken a few trainings that have touched on Fragile X. I'm sorry to hear that. Were they able to give you any more information or anything?

Since the only risk to our baby is that he/she MIGHT be a carrier, they just suggested having him/her tested at birth to see if he/she is a carrier.

MrsMommyQ

gringa78:

It often affects boys more than girls because when you have an XX pair (girls) the sperm X makes up for the woman's fragile X...if you have a fragile X and a Y (boys) there is no healthy X to make up for the poor one.

It is a syndrome that affects cognitive, language, and social development.  It is good that you know your family will be at risk so they can get genetic counseling when it comes time for them to start their families.  They could do IVF with PGD to avoid having a baby with the disorder.

I dont think this is entirely true. As a woman I have 2 X chromosomes...one of them is fine and the other is "fragile". So....girl or boy, there is a 50% chance that the baby will get my "bad" X chromosome.  My husband is fine, so whatever he gives, an X or a Y, will be fine.

earthycrunchymama

I'm actually getting tested for it due to patterns of disability in my family. The Geneticist wanted to rule it out cuz it could explain a lot of all my cousins issues (including Autism).

But,  Here is info on What is Fragile X and here is info on What Does It Mean To Be a Fragile X Carrier?

I hope it helps! 

gringa78

MrsMommyQ:

gringa78:

It often affects boys more than girls because when you have an XX pair (girls) the sperm X makes up for the woman's fragile X...if you have a fragile X and a Y (boys) there is no healthy X to make up for the poor one.

It is a syndrome that affects cognitive, language, and social development.  It is good that you know your family will be at risk so they can get genetic counseling when it comes time for them to start their families.  They could do IVF with PGD to avoid having a baby with the disorder.

I dont think this is entirely true. As a woman I have 2 X chromosomes...one of them is fine and the other is "fragile". So....girl or boy, there is a 50% chance that the baby will get my "bad" X chromosome.  My husband is fine, so whatever he gives, an X or a Y, will be fine.

If a child is in the 50% that inherits the Fragile X chromosome, and the male gives a typical Y chromosome, the child will still present with Fragile X due to the Y chromosome not making up for the Fragile X.  Do you see what I'm saying?  The father does not have to be a carrier for the disorder to present itself...the mother is the carrier.  Fathers with Fragile X will pass the gene on to all their daughters, though.

gringa78

Cassie730:

gringa78:

They could do IVF with PGD to avoid having a baby with the disorder.

 Look it up. People do it all the time to avoid passing on genetic disorders.

jcath

I got the blood test screening for Fragile X after talking to the genetic counselor at my NT scan.  I have an now-deceased uncle with unexplained mental retardation.  I haven't gotten my results back yet though.  Did your test take a long time - its been over a week.

 

iris427

MrsMommyQ:

gringa78:

It often affects boys more than girls because when you have an XX pair (girls) the sperm X makes up for the woman's fragile X...if you have a fragile X and a Y (boys) there is no healthy X to make up for the poor one.

It is a syndrome that affects cognitive, language, and social development.  It is good that you know your family will be at risk so they can get genetic counseling when it comes time for them to start their families.  They could do IVF with PGD to avoid having a baby with the disorder.

I dont think this is entirely true. As a woman I have 2 X chromosomes...one of them is fine and the other is "fragile". So....girl or boy, there is a 50% chance that the baby will get my "bad" X chromosome.  My husband is fine, so whatever he gives, an X or a Y, will be fine.

Nope she's right.  That is how X-linked genetic disorders work.