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Re: Genetic Testing
I think I'm going to bring uo the NIPT with husband again this weekend, and see how much it will cost / whether it's covered by insurance. I think I'd like to do it to have more info.
Go in today to offer up more of my blood and the doctor pulls us aside. The test for the baby's DNA failed but mine came back and I am a premutation carrier for Fragile X syndrome.
Kinda freaking out tbh.
They took hubby's blood to see if he's a carrier but even so if we have a boy it's a 50/50 chance he will present with symptoms.
@missmcgonnagal I’ve never heard of that. Just googled and I don’t blame you for freaking out!! Hopefully if your LO is a boy he is only a carrier and doesn’t have symptoms.
Based on what I've been able to research this morning, Fragile X is a spectrum. In order to 'have' Fragile X you have to have 200 repeats of the genetic mutation on one or both of your X chromosomes (both if a girl, only one if a boy). If you think of your genetic sequence as a sentence, "The fat cat jumped over the lazy dog," a Fragile X premutation or mutation is more like "the fat fat fat fat fat fat cat jumped over the lazy dog." So you have to have 200 of these repeats in order to get the worst of the syndrome (intellectual disabilities, autism, etc).
I have 55 repeats on one X chromosome, which is the absolute lowest number to be considered a premutation. 54 and below is considered high, but not at a premutation level. People with premutations can sometimes have early onset menopause, ataxia (shaking) over the age of 50, or may be predisposed to anxiety or depression. I have anxiety, so there's that.
So that's the actual genetic abnormality behind Fragile X. Inheriting it is also a bit confusing.
As a woman, I can pass on my mutation and that mutation can grow and spread. So the higher my number of repeats, the more likely that number grows in my child to hit that magic 200. However, since my number is so low, there's something like a 1-3% chance of that happening.
They're screening my husband for it now. We know my husband can't have the mutation, because with only one X chromosome he would be autistic or have some other intellectual impairment if he did have more than 200 repeats. It is possible for him to have a premutation, and considering he is ethnically more predisposed to it and has some disorders that are linked to Fragile X (depression, ADD) we are thinking he might have a premutation.
Unlike women, however, the repeats in men cannot 'grow' as they are passed from one generation to the next. So my husband's premutation couldn't grow into something worse if we have a daughter - the daughter would get exactly what the father had. Basically, our kid would be just like him (which is kind of the point of having kids).
So, all this is to say that our kids might have one or more premutations on their X chromosomes, which means they might inherit my husband's depression and ADD or my anxiety. Basically, our kids are going to be just like us.
I hope this makes sense, and if anyone else finds out they're a carrier for Fragile X, I hope this information is helpful. Still kind of freaking out, but I just keep reminding myself that barring some very unlikely genetic mutations, our kids will just be like us.
Also sounds like regardless of these reaults, the rest of my pregnancy will be a bunch of tests and unknowns. All of my excitement is gone and replaced with fears.
knottie18e7f623e51e4053 im sorry about your NT results. I don't have any advice as I've never had that test done. But please change your screename to something more easily recognizable so we can get to know you better.
PS - If it makes you feel any better, I'm a carrier for 4 pretty awful, neurologically-devastating or metabolic/life-altering conditions (just found out about the 4th this go around)...my husband was tested for 3 (and just sent a sample for the 4th) and by some stroke of luck and probably his genetic variance, was negative for all! I'm hoping it works out similar for you as well.
@gabadoo Thank, I will keep everyone posted. Right now I just keep reminding myself that none of these results indicate that we'll get anything other than children who may have some issues the same as hubs and I have ... which we kind of expected anyway.
One thing that I find interesting about this whole thing is that even if our children do get it, the way it presents is so ... weird. For example, girls who get Fragile X (have it on both X chromosomes) but only have milder cases of it sometimes present with things like excessive shyness, while boys (just on one X) will present with hyperactivity. Those things are basically just personality traits, to a certain extent. I'm really so thankful that my repeat number was so very low, so that even if our kids do get it, it's unlikely they'll get the serious manifestations. Instead they'll be shy or hyperactive, which to me is just who they'll be.
I did my panorama testing on 10/29 and called dr office after 2 weeks asking for results, they said they didn't have enough fetal DNA to get results so they needed to redraw my blood as well. I went the same day for the blood draw, but I was telling the lab tech that I was sad, because we wanted to do a gender reveal on Thanksgiving since all family will be there. Well only time will tell now whether the results will come back in time.
The docs must have put my blood tests to the front of the line since my previous tests failed because it only took them 3 business days to get back to us. The good news is that my Fragile X was NOT passed on to my DAUGHTER. Both copies of her X chromosome were clean, which means hubs can't be a carrier.
There's always the risk that it could be passed on to future children I have, but because of my low number of copies we're not particularly worried about it. IT'S A GOOD DAY!
Hoping for similar turnaround time for my NIPT. Had blood drawn 1 week ago, called the company to confirm receipt early this week and they told me results should be ready by Monday to be released to my doctors. Too bad there's no patient portal for direct access. I'm going to gently nudge/remind the OB in the morning at my appt. that I'm eager to know the results before Thanksgiving! It's also my birthday this weekend, so it would be awesome to have reassuring news.
@knarlytaurus thank you. Hoping I feel better after the appointment.
@dfirstimer Thank you.
DD2- EDD 5/12/2019