When can genetic testing be done?

I have NF1 and passed it on to my first child, thankfully it is just mild (so far). I am now pregnant with my second and due in April. Does anyone know at what age genetic testing for NF1 can be done? I refuse to get amnio due to the risk of miscarriage as it took us three years to concieve this time around.

Report post

7 replies. Join the discussion

You can have testing done at 10 to 11 weeks.

Report post

Prenatal test available.

Have your doc fill out the forms for UAB (University of Alabama).

http://medicine.uab.edu/genetics/82633/medgenomics/#testservicehttp://servi ces.medicine.uab.edu/publicdocuments/genetics/images/3%20NF1%20Test%203.pdf

Report post

Thank you KOHare and cardsharp. I will see if my OB is at all familiar with this and if my insurance will cover the cost of the testing to be done.

Report post

The pre-natal test mentioned above is CVS, which is "invasive" like an amnio. I did this and it was a relatively easy procedure, but there is some slight risk of miscarriage so I imagine you might be concerned about this too. If you do go this route make sure you do it with a doctor who is very experienced in performing CVS. Some studies report a higher risk of miscarriage with CVS (vs. amnio) but evidence points to the fact that it is likely due to the fact that the CVS test is done at a time when there is an overall higher miscarriage risk (first trimester) compared to amnio.

Also, in order to do either test you need to have had your own mutation identified via blood work (not just a clinical diagnosis). Have you had this done yet? (It's the blood draw that is sent to University of Alabama). I think the turnaround time varies depending on how quickly they can find your mutation--I believe it took about 3-4 weeks for mine but sometimes can be longer.

I imagine that if you didn't want the prenatal test, but wanted definitive answers about whether or not your child has NF you could have the blood work done soon after delivery.

Report post

>>Just re-read your post and noticed you are due in April, so it would be too late in your pregnancy to have CVS done (think it is done until week 12)

Report post

Thanks not sure if they ever identified the mutation as I was diagnosed at about 5 or 6 years old. I would have to check with my mom and dad on that. I will have the blood work done on our little one ASAP after delivery though.

Report post

hi i have nf1 too and you can have the baby test right after birth they take the blood from the baby cord after they cut cus that what im have done after my son is born

Report post

This discussion is closed to replies. We close all discussions after 90 days.

If there's something you'd like to discuss, click below to start a new discussion.

Things you can do

Support the Neurofibromatosis Network

Help the Neurofibromatosis Network reach its goals and support people like yourself by making a donation today.

Donate to the Neurofibromatosis Network

Discussion topics

Beauty Mark Nation

Beauty Mark Network

Resources from NF Network

Find an NF Walk Near You

Find an NF Walk Near You

Community leaders