I've tested postive as a carrier of Fragile X Syndrome - anyone with this experience? — The Bump
High-Risk Pregnancy

I've tested postive as a carrier of Fragile X Syndrome - anyone with this experience?

I'm 11 weeks pregnant and just recieved my results for genetic testing, positive for premutation Fragile X syndrome. This disorder is carried on the X chromosome so essentially if I'm having a boy, I'm in the clear. The disorder manifests as autism, of which I have no history in my family. 

Unfortunately my relationship with the father has gone south, he's falsely accused me of being unfaithful based on no evidence, he's emotionally inept and I have been supporting him financially. I'm in my mid 30s so even as a single Mom, i'm still happy and excited to go through with this pregnancy. 

Should I have him tested for this disorder or just wait and see? It's such a complicated dilemna and concept. Is terminating based on negative genetic testing results common? 

I guess I'm just interested to hear the experience of other based on genetic testing results and subsequent courses of action. 

Re: I've tested postive as a carrier of Fragile X Syndrome - anyone with this experience?

  • I work with someone who just went through this. She ended having a healthy baby girl. Which I believe you may have it mixed up I think the X chromosome is for a girl, and if I remember right she said when they found out she was having a girl it wasn’t such an issue as girls aren’t affected by the traits but are just carriers. I do remember her spouse getting genetic testing to help with determining more but unsure of how it helped. I’d ask but she is still on her maternity leave.
    I’m so sorry you’re going through this and don’t have support from the the father I hope your genetic counselor and doctor can be helpful to you in helping answer some of your other questions.
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