Today is Marie's first pregnancy check up. She is very excited to have her first child!
I haven't decided on a name yet, but I’m kind of leaning towards Emily if it's a girl or Jacquess if it's a boy
Marie is going in for her prenatal genetic screening test because he family has a history of Fragile X Syndrome. These tests are used to find out the chances of the child being affected.
Hey, Mrs. Nightson, are you ready for the testing?
I'm so psyched doc!
Genetic tests are performed on a sample of blood, hair, skin, or other tissues. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder which in this case would be Fragile X syndrome.
So what exactly is Fragile X Syndrome (FXS)?
FXS is a genetic disorder caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1. This gene is needed for brain development. With changes in that gene, it causes learning disabilities, low IQ, and late development of basic thinking skills.
There is no cure for FXS. However, therapy can help people with this disorder learn to walk, talk, and interact with others. This disorder affects 1 in 7000 males and 1 in 11000 females. This makes Fragile X Syndrome the most common inherited intellectual and developmental disability.
Fragile X Syndrome is inherited in an X-linked dominant pattern . X-linkedmutations are located on the Xchromosome, one of the two sex chromosomes. If the father was a carrier, then he would never give his son the gene. If the mother is a carrier then both a son and daughter could inherit the gene, either premutation or full mutation. If it was premutation, the offspring would just be a character. If it was full mutation, then the offspring would have the disorder.
Marie right now is veryconcerned about what might happen if the child does have Fragile X Syndrome.
I really hope these results comeback negative. I would have to change my whole life to take care of this child. I would have to take them to therapy and get all of the medicine and treatment they needed for it, this would be very expensive.
Since Marie is very worried about what might happen, she decided to look up some information about the Community Resources for people dealing with Fragile X Syndrome.