Planning a family is an exciting time in the life of a couple. They’ve built a life together and now that things are settled down from those early days, it’s time to get pregnant. Many couples today opt for genetic testing prior to conceiving, especially if they are in high risk ethnic groups. Having said that, the most common cause of autism in children is the Fragile X gene, which isn’t commonly tested for in routine genetic testing pre or during pregnancy. To find out if either parent is a carrier, a specific test needs to be carried out.
Where to Learn About Fragile X Syndrome
If you have heard of Fragile X Syndrome and are seeking more detailed information, it is suggested that you visit the HealthyChildren.org website powered by the American Academy of Pediatrics. Everything on that site is well-written and in language which can be easily understood by the layperson. You don’t need to be a medical professional to understand what you are reading, unlike so many other sites catering to med students, nurses, and research professionals. There you will learn what you should be concerned with, if at all, and what to do if you or your spouse carries the Fragile X gene.
Is Fragile X Dominant or Recessive?
Here is the $64,000 question which many have sought to answer, but few understand. Some literature classifies it as recessive while others say it’s neither dominant nor recessive. Actually, there is a growing body of evidence that supports the fact that it should be classified as neither. However, what you should know about this particular syndrome is that the mutated Fragile X gene is just that, fragile. Unfortunately, some trigger can set it off and it can replicate itself many times over which, in turn, can lead to a child born with Fragile X Syndrome. Please take note of the fact that it ‘can’ lead to Fragile X Syndrome, but not necessarily.
Testing Preconception May Tell You Nothing – Or Everything
If you have a family history of children born with autism or Down’s Syndrome, you may learn that the potential for a child born with Fragile X Syndrome may increase proportionately if both parents carry the gene! Some specialists suggest amniocentesis to test each baby individually since the syndrome takes place after the egg is fertilized and DNA strands begin to replicate. If the Fragile X marker is going to replicate out of control, this would be where you’d find it.
Separating Fact from Myth
There are many myths surrounding Fragile X Syndrome, so the best thing you can do is sort fact from myth before believing what you read. A pediatrician will be your best source of information, as well as all the information you’ll find on, or linked to, the AAP website. For example, the most prominent myth is that Fragile X only strikes males. That is most definitely false! Having said that, males are almost twice as likely to be born with Fragile X Syndrome than females, but females can be born with the syndrome as well.
In the words of Edgar Allen Poe in The System of Dr. Tarr and Prof. Fether, “Believe half of what you see and none of what you hear.” (Unless of course it’s a reliable source like your pediatrician, then and only then, can you understand this little understood genetic disorder.)