@kayforever I didn’t get an NT scan either. Not sure if office doesn’t do it or my insurance just doesn’t cover it. With my first pregnancy, really the only ultrasound I got was the 20 week anatomy scan and they was really because they fudged a little on my measurements for insurance to cover it. This time since i am over 35 (almost 40) a few more ultrasounds are covered but not just for routine basis.
@kayforever My OB recommended NIPT and had blood drawn at week 10. I asked if we could also do NT scan and he said he doesn’t do them or recommend them because NIPT is more accurate at 99% and he doesn’t like if NT shows something different and patient will have a hard time forgetting those results over NIPT. My results of NIPT were available in 11 business days
@kayforever also, just in case it helps, at my first appointment at wk 8, they took blood to test for various illnesses like measles, confirm my blood type and do the Horizon test which is to check if one is a carrier for cystic fibrosis, duchene, etc. They also did a test to confirm no STI’s and checked sugar and protein levels. At wk 10 I gave blood for NIPT (Panorama) then wk 12 was just another US and check up plus urine and blood test because I have thyroid issues and chance for me to ask more questions. At wk 16 will do test to see risk of spinal bifeda and other similar issues and then a anatomical scan at wk 20
Thank you everyone! I'm pretty sure my first appointment blood work was very similar to yours @dbfirstimer.
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.
@kayforever FWIW, I did the Counsyl prenatal NIPT, and my dr said they don't do an NT ultrasound if you do the NIPT. The ultrasound tech said they still informally look for the same markers in an ultrasound around that same time (in my case, 10 weeks), so they felt confident from that. My Counsyl NIPT was not covered by insurance but will cost just $199 out of pocket.
So I got my progeny blood drawn and was told over the phone that the test failed and they needed new blood. Cool, whatever.
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.
@kayforever your insurance probably won’t cover it bc you are 27 unless you have some genetic risk factors in your family history. But as others have said you can call and get an out of pocket price.
@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.
@missmcgonnagal I am so sorry for your news. That is hard to swallow. I am hoping that it all works out and your baby does not present with symptoms. Can they test the fetus ahead of time? Will it show up in the fetal DNA testing?
@kayforever it completely depends on your practice, risk level, and likely state (or maybe county?) plus perhaps insurance. In California, it's standard. Literally everyone can get it. The blood work that's associated is run by/through the state so they have all of the records for statistical purposes (which doesn't bother me but you can opt out).
@missmcgonnagal I am so sorry for your news. That is hard to swallow. I am hoping that it all works out and your baby does not present with symptoms. Can they test the fetus ahead of time? Will it show up in the fetal DNA testing?
They can do an amnio later on to test for it. Honestly, though, the more I'm reading the luckier I'm realizing I am. This is kind of confusing but if you're interested about Fragile X, stay with me.
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.
@missmcgonnagal Ahhhhh that is very very helpful information. And probably not something you ever would have realized if you hadn't had the testing done.
@missmcgonnagal sorry I missed your first note about that. It looks like you've done some great research. Will you also get to talk to a genetic counselor? I definitely freaked out about my cystic fibrosis carrier diagnosis but since DH ended up not having it, we just need to worry about our children being carriers for *their* children. My cousin is a carrier, as is my sister but they found out after my test. While I'm sure it's scary, it's great that you were able to get a good understanding of the possible outcomes. While I'm sure no one would wish anxiety, depression, ADD, etc. on their children, it sounds like you'd be great parents to any children with those issues.
@missmcgonnagal did they test out further than the initial? I was a permutation carrier but they did further testing to discover it was negligible and my son is completely normal- not a carrier at all. I forget what it’s called but something with alleles and testing repeats. Ask your geneticist!
My NT came back abnormal with a measurement of 3.4. I have not gotten my blood test results back yet but I got the serum test and the NIPT. I’m 30. It’s been a horrible time waiting.
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.
@missmcgonnagal Im so sorry about the results. But great job doing your research! Nobody would blame you for freaking out.
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.
@missmcgonnagal, sorry about those results...but, agree 100% that the research that you did and the bordering pre-mutation status that you're currently in overall means a VERY LOW risk of either a boy or girl child of yours having the actual condition. That's great news to hold onto and stay optimistic! Once you have your husband's carrier status, I'm sure the genetic counselor and your OB will advise you further re: amnio vs. testing of the baby once they're born. Stay hopeful and please keep us posted!
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.
@journey721 They haven't done any tests beyond the initial so far. I'm going to call the genetic counselor on Tuesday. We're waiting for my husband's results to come back atm. I'm thinking I'm pretty low-risk because of my low number of repeats. Hearing your experience definitely helps put me at ease!
@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.
Wow @missmcgonnagal sorry for those results. Great information and I'm glad to hear you have such a low occurrence, plus the encouraging similar stories from others.
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!
@missmcgonnagal, AMAZING news! So glad to hear that the baby doesn't had a critical number of repeats and that the lab worked so fast to get you these reassuring results.
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.
@missmcgonnagal I was happy for you before but after watching an episode last night of a show where a child had Fragile X, I am EVEN MORE happy for you and this baby
I just got the call from my midwife that my serum screen (not nipt testing) came back as an increased risk for Trisomy 18. I now have to follow up with an NIPT test. I feel pretty blindsided because we already did a preimplantation genetic screening (pgs) on the embryo before I got pregnant when we did IVF and obviously according to that genetic test the baby is perfectly healthy. Trying to remain positive but it’s not working. I have a genetic counseling appointment Wednesday to discuss risk.
@jkduer so sorry you are having to go through this. We did pgs and then the nipt - we skipped a serum test - nipt was covered since I am over 35. Prayers that everything comes back okay!
@bpietronicco I had fully intended on skipping the serum test but the tech at my NT scan scared me into it. Wishing now I had stuck to my plan and just gone straight to NIPT.
@knarlytaurus thank you. Hoping I feel better after the appointment.
@knarlytaurus The appointment is just for the genetic counseling but my lab is always open for drop ins so I’m sure I can do both. That’s what I’m hoping at least. I’m also hoping they expedite tests for prior positive screenings.
@jkduer. With DD1, that test came back high risk for Trisomy 18. I think 1 in 81 chance. Did NIPT and she is perfectly fine. I believe that tests has a high rate of false high risk screens.
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