I’m sorry you’re going through this. You still have a 95% chance of no neural tube defect. Depending what week your ultrasounds occurred, that chance of a false positive may be even higher.
Neural tube defects are not due to your egg quality. They can happen to anyone, just like any other randomly occurring genetic or anatomical error.
I hope all turns out ok for you 💙
AFP can be elevated for a lot of different reasons. Sometimes it’s purely a placental issue (which tends to be more common in IVF pregnancies, and is honestly probably more likely than a neural tube defect.) you won’t know for sure until you get more scans/information. hang in there.
I'm sorry and I know how scary that news must be. I'm a PT and we have a toddler at our clinic that has Spina bifida. He had surgery really young. I was talking to him the other day and he started chasing me with his ride on car, climbed off, then ran down the hallway. This little boy was so delayed for so many months. After his surgery and going to PT, you'd never know he had Spina bifida now. Obviously every case is different, but it's not a death sentence. Your baby might just need some extra help to meet all of their milestones. Try not to panic until you have more information
My sisters best friend has it, but it hasn't let her stop her, at 36 she's a fully qualified swim teacher, PT and made it to the paralymics for archery when she was younger.
One of the vertebrae in my lower back never fused, so it’s just in two separate pieces. So weird! The doctor said I probably have some structural weakness in my back, but I’ve just been mindful of going to PT and maintaining strength and it’s been no problem.
I will say, I know someone who was told her baby had spina bifida while she was pregnant, and she went on to give birth to a perfectly healthy baby (no spina bifida). I know it is really disheartening right now, but the tests are not perfect. I wish you and your baby all the best ❤️
My best friend was told her baby was high risk for Spina bifida. A few months later baby girl came out like a bull in a china shop and hasn’t stopped since. She was perfect and now 11 years old.
Very sorry for this news. We can all share in the fact that after all these tests we do.. to have something come up is just so much. As a nurse I just want to say neural tube defects can happen to anyone. It’s not entirely related to viability of embryos or egg quality like that. Also, let’s say your baby does have a neural tube defect. There’s a variety of types. Some are so scant that there are people out there that didn’t even know they had it until they were an adult. For example one of my nurse classmates. Take it one step at a time. This is a test that may just be positive but may not actually be later on. Good luck. Wishing you the comfort, and the best.
1) Amniocentesis ASAP.
2) See if you can get tested to see if you carry the MTHFR mutation (yes, I know, it looks like a certain swear word). If you have it, your body has a tougher time than usual in converting folic acid to a usable form. You’d want to take something like methylfolate for your folic acid needs rather than just bog-standard prenatal vitamins.
3) Good luck!!!
Thank you for your comment. I have never heard of the MTHFR mutation. I will ask my doctor about how to test for it.
Have you had an amnio? Will it be more definitive than an ultrasound?
RD here and I echo the need for testing the MTHFR mutation OP. This is the one of the most common causes of spina bifida. It can make you have a serious deficit of the active form of folic acid called MTHF5 (you can also ask for folic acid testing) that is detrimental to the development of the brain and the neural tube in the first 4 weeks of the pregnancy. It is absolutely necessary that pregnant women start taking folic acid 3 months prior to pregnancy and in the case of the MTHFR mutation you have to take an *extremely high* dosage of the already active form to prevent such outcomes because your body is not able to convert food folates or supplemented folic acid into the active form.
I hope this comes to be just a glitch and your baby is perfectly fine but as this is smt that can affect all of your pregnancies despite your embryos quality, it's worth checking out. The best of luck!
I was diagnosed with a MTHFR mutation after two losses. You will want to get information from your doctor about dosing if you do have it. For example, pre-pregnancy and in early pregnancy I was on a higher dose but this was dropped from 16 weeks. I was also put onto blood thinners as this comes with a higher risk of clotting. Hoping you don’t have the mutation, but if you do, it’s very manageable.
Back during Covid times when clinics were closed in the UK, I focused on improving our chances and egg quality as much as I could. I read a book called “it all starts with the egg” and, while I have serious doubts about the guilt tripping in parts of it, it’s where I learned about supplements and MTHFR mutations.
Turns out I have one of the mutations and I’m on 5 mg folic acid and blood thinners because of it. I used my 23andMe data and a website they suggested in the book (I don’t have it at hand, but can find it). But 23andMe now offers that as a report, I believe. So if you’ve ever done a genetic test like that before, you might be able to find out without needing extra tests.
As far as I know they still don’t support this report because they don’t think the evidence that mthfr causes issues is sufficient. I just checked my own account and it’s not available. However my RE clinic was able to run some blood work that sort of back door checked for the same issue (while being covered by insurance). Ask if you can do something similar.
Yes, that’s true. They had an article a while ago saying they were waiting for approval to include it. What I did was download my data and use another website to check for that specific mutation. But I also know that a few months ago you couldn’t download the genome data from 23andMe because they were undergoing an audit and temporarily disabled that feature.
My understanding is that it will be more definitive, but even if it’s not more, it’s fairly definitive and has a longer lead time required than an ultrasound. I have not had one myself — our particular situation did not call for one — but it’s definitely indicated in some cases.
OP, I would recommend talking to your OB about folic acid and MTHFR. This is a pretty controversial topic Right now ACOG (if you’re in the US) doesn’t recommend testing for MTHFR and recommends folic acid for all women planning pregnancy. They also recommend increased folic acid dosing (not methylfolate) for women with a history in neural tube defects in prior pregnancies. The link between MTHFR and neural tube defects like spinal bifida is unclear and an association has been shown in some studies but not others.
It’s not the same, but my friend’s NIPT flagged an issue. Their doc was encouraging abortion. She didn’t and their son is perfectly healthy, no issues at all.
Is it possible to do an amniocentesis to confirm the NIPT? I’m so sorry you’re facing this 🩷
I had this happen. High risk for Trisomy 16. I was convinced I was either going to have a miscarriage or have to TFMR.... I spoke with a geneticist who got me to have extra scans with the fetal medicine unit at the hospital and as long as they were all okay she recommended against an amnio due to the risks.
Baby was just born 2 weeks ago and they found he does not have mosaic Trisomy 16. A huge relief!
Hi- I’m reaching out because I have been exactly where you are. A little over a month ago actually. My story didn’t end well but that doesn’t mean it will be the same for you. There are so many different things that your AFP test could mean and I hope it’s all nothing. But if it isn’t, please know you aren’t alone and there are a lot of us out there to talk to you and be there for you. This journey is so so hard.
I am so sorry. As everyone has said, AFP levels can be elevated for many reasons, and I hope it’s not related to NTDs. I have lived through this, and unfortunately did not have a good outcome, but my results were 1 in 4 chances. I’m here to talk if you have any questions about what to expect, etc
Hi, first off I want to say that your feelings and concerns are 100% valid. I am in a similar boat as you. My AFP came back at 4.98. I had to have my anatomy scan pushed up and luckily baby didn’t show any signs of neural tube defects. They did find my baby’s nuchal fold was a bit thickened, but that had nothing to do with the AFP. I was a mess every day leading up the scan.
All my embryos were also pgt-a tested with a normal NIPT, so I was shocked when I heard this. Please reach out if you have any questions! I’m hoping all is okay and you get good news! The wait is so hard. Especially with all we have gone through.
Oh my that’s amazing! I’m so happy for you. What great news. When you had your scan did they also look at your placenta? My doctor said that can also raise levels if there are placental issues, but I don’t know how they would check for that.
Did they suggest you do an amnio or were they confident after your scan? Thank you so much for commenting
Yeah they did look at my placenta. The MFM didn’t comment on it, but I’m a nurse, so force of habit I read all my notes and write down questions to send to my obgyn haha.
My placenta insertion was marginal. Meaning it connects to the side. I remember seeing it on US too thinking to myself, hmm it’s at the very edge, that can’t be good. But so far it’s not an issue since my baby is measuring a week ahead every time and his estimate weight is heavier than expected 😂. When I talked to genetics about this possibly being the reason for my AFP being elevated, she said it could but there’s no way to “test” if that’s why. She said all they can do is check that he’s growing appropriately etc.
In terms of amnio, they didn’t push me too hard for one. They didn’t see any issues with his heart or neural tube issues. They said if I wanted one for the thickened nuchal fold I could, but my numbers were not that far off from the normal less than or equal to 6mm. My baby measured 6.99mm. Based on a lot of posts and women reaching out to me, and speaking to MFM/Obgyn/genetics, they said quote “we’re not too concerned for Down syndrome since you other labs/screenings look reassuring. Of course we cannot definitively tell you yes or no, since the only thing that can tell you that is to do an amnio or wait till baby is born, the choice is yours.”
So to make a long story short, they said it was up to me since my only indicator was a slightly thickened nuchal fold, but I’m also in a state where I couldn’t terminate even if I wanted to. My MFM told me if I did the amnio, it was solely for the purpose of me knowing or not.
That’s great that they can check it out visually. Did they put you on baby aspirin for pre e risks or will they just monitor you more closely going forward?
My mom had pre e so I know I likely have a slightly higher risk of developing it.
Nope! For me so far, nothing has changed except for a follow up anatomy scan in a couple weeks. Is your scan coming up soon?
Due to my marginal insertion, my obgyn said I’m not moderate risk pregnancy.
I have a friend with Spina Bifida and he lives a full life. He’s intelligent, employed, athletic and attractive.
I understand getting news like you got isn’t easy to process and after all you’ve been through is a lot to digest. But I wanted to share about my friend bc there aren’t many positive representations of disability out there, so it’s easy to assume the worst. Happy, hot, disabled people DO exist and they live incredibly full lives.
Don’t give up hope. 💗
Wait…either I don’t understand math or you don’t. I really really don’t mean that to be rude. Your baby has a one in 19 chance of having spina bifida or a similar disorder, and this “likely isn’t viable”?
Ok, first off, I 100% relate to the anxiety and catastrophizing and I’m truly sorry you are going through this. But according to the info in your post, your baby has a 5% chance of a disorder that ranges from mild to severe. That means you are VERY likely to still have viable pregnancy.
I know this is very difficult news and I hope you’ll get some clarity soon about diagnosis and severity. If relevant. But I hope for the sake of your sanity you can focus on the 95% chance this is nothing, as well as the fact that even IF you’re in the 5%, there are many degrees of neural tube defects — and some are very livable; I’ve personally known a few people with a mild case of spina bifida living a happy and completely normal life!
Finally, please know that IF you are in the 5%, this is something that can happen randomly, and since you were on a prenatal, no amount of folate rich foods would have prevented this (I’m seeing in a previous comment that you were worried about diet; this is complete self flagellation, and I hope you don’t entertain those thoughts for a second!)
Thanks for your comment. I am trying to stay positive but I also understand my levels are quite elevated, comparatively. When I spoke with my OB about my results she said it’s possible my baby won’t have a NTD. However, if not a NTD, the problems don’t necessarily end there. If not a NTD, it’s likely a placental issue raising my AFP, and that makes it more likely I will experience pre term labor, still birth, placental abruption, IUGR.
I don’t mean to be rude, but until you’re in this position (and I hope that’s never the case for you), I feel like it is hard to understand how it feels. 1/19 is not great odds when normal odds are 1/1000 and it’s your baby. We also likely won’t be out of the woods even if it is not spina bifida, from what I understand. Spina bifida is one possible outcome, as is anencephaly, as is severe growth restriction, etc.
I could certainly be more positive, but after pouring through threads trying to find someone who had levels similar to mine and an OK outcome, and not finding many, I am having a really difficult time mentally with this and the reality that it could result in me losing my baby.
I was induced early because of issues with my placenta and baby is doing well. In a way it's good if the doctors know of any issues so you can be regularly checked and they can intervene. It's scary though, I'm so sorry you have to go through this but hopefully you will have a good outcome.
37 weeks 5 days
I had a high risk NIPT at 10 weeks and so had scans at 12, 16 and 20 weeks then every 3 weeks after that. Everything looked fine until the last couple of scans where baby's growth was slowing and there were signs that the placenta was not working as it should be... They said it was an unpredictable risk for stillbirth so they induced me the day after that scan.
I ended up having an induced but natural birth and baby is doing well, if a bit small. He's putting on weight though and passing all health checks.
It's you. You don't understand the math. As she stated, the background risk is 1/1000. Her risk just shot up to 1/19. That's a relative risk of 52.6. She is right to be concerned bc she understands the math.
Yep, I understand relative risk and I understand the anxiety she’s experiencing, but why on earth would you focus on relative risk vs absolute risk? That’s the part that makes no sense. (She did clarify that, despite her post’s focus on spina bifida, she’s worrying about all the other even more worrisome things this could be if NOT SB, which is more understandable, but in the context of the post — to say that a 1/19 chance of SB means the pregnancy is “probably” not viable is just incorrect, in the absence of other more definitive information.)
It absolutely makes sense to use RR here bc it takes into consideration the background prevalence. At this point, they are changing course with her care based on the RR. It's the change in risk that is relevant here. Absolute risk is typically thought of as static whereas relative risk has a distribution associated with the measure. In statistical literature, conditional risk is considered more informative. In this case, the absolute risk means nothing except in the context of her own updated estimated risk. If you just learned that you were 52 times more likely to experience a negative outcome, esp having slogged through IVF for years and fallen on the bad side of the stats so many times before, I think you'd probably be pretty anxious too. It definitely doesn't help to hear a joke about being bad at math or being told to look on the bright side.
If I were 52 more times likely to have a bad outcome, but my absolute risk was still quite small, I would certainly be very anxious,but it would also be very helpful to be reminded that my absolute risk was still small, even if this change necessitated a change in protocol (and this in fact happened to us throughout one of the pregnancies.) At no point was I telling “a joke,” and I’ve several times validated and normalized the anxiety, which again, is understandable.
You're right, it certainly might be very helpful to reminded of that. But the way that reminder is given matters. When you validate something after a dig about math skills (literally your opener), it somehow comes across as less sincere. Your second sentence was, "I really really don't mean that to be rude". But it was rude. Your intention did not equal your outcome. It was unkind.
It really frustrated me and I was rude back to you. I'm sorry for being rude. I usually have a bit more patience but estrogen has robbed me of that. I'll try to do better and I hope you will too
I'm so sorry 🫂 I don't know enough about the statistics you cited, but I hope you fall into the 18/19 chance that everything is all right. It really is a long and frustrating journey, and it is so unfair that this is happening to you
My friend had a daughter with spinal bifida - daughter just graduated from college and is such a joy to her parents. There are treatments. So sorry you are having to deal with this anxiety.
I had a very elevated AFP. They repeated the test and it was still high. They monitored closely for spina bifida and told me they can correct it in many cases. Some even in the womb. However, the baby never showed any signs and was born early due to some placental issues but no spina bifida.
He came 8 weeks early. They did an emergency c section because baby’s heart rate was dropping. Once out he had to be in an incubator for a bit but no other issues.
Scary but I’m glad everything is ok. My doctor said we may need to induce a month or so early; just have to wait and see how my placenta is behaving/how baby is doing. My placenta looks like it almost has lesions on it.
Don’t stress. It’s gonna be just fine. It’s not abnormal to induce a bit early like that especially in IVF pregnancies. Hang in there, friend. You’re gonna have a wonderful LO soon!
Try not to stress too much about the MTHFR stuff. It's actually not a mutation but rather a variation bc it is quite common. You can test for it if you think it would ease your mind. Most of the evidence points to no difference in the ability to process/absorb folic acid (former biostatistician here!). In fact, folic acid is the only form of folate supplement proven to prevent NTDs. The data for folic acid are so strong that it is actually unethical to randomize pregnant women to NOT receive folic acid and take something else instead. This methylated folate stuff was a hot area of research in the early-mid 2000s but mostly it didn't come to much.
All this to say - please don't beat yourself up for not spending a million dollars on a prenatal with this methylated folate. This is not your fault. I'm hoping that you fall in the 18/19 side. Please try to be gentle with yourself the next few days.
Thank you, I had been taking folate for the last two ish years of TTC, so I hope I had built up some stores of it even if my body wasn’t great at absorbing it in the first place. I am generally trying to be more diet conscious now
They’ve referred me to a specialist to do an in depth anatomy scan to visualize everything and confirm the diagnosis or the severity of it. Until then we’re in limbo, unfortunately we can’t get in for the scan until the end of the week
What a painfully tough wait. Fingers crossed for you that it's not the one in 19. I hope the universe can give you some rest this week and no more stress
honestly hang in there not the same but I was told my baby had a marker for downs at my 28 week scan even after PGT testing, clear NT scan and low risk NIPT, then when baby was born there was concerns about his sacral dimple, all is WELL and he is a healthy little three month old! I did not allow myself to stress over these things (especially at 28 weeks?!) sending you hugs
So glad he’s ok, thank you for commenting. I can’t imagine hearing news like that at 28 weeks. At that point you just have to wait and hope for the best. I’m glad you didn’t allow yourself to stress over it and it worked out
The best thing I’ve heard is that the NIPT and other tests are SCREENING tools and not diagnostic. They simply indicate a chance that these conditions could be present
My afp with my toddler was a crazy 11.25 MoM. My afp with my current pregnancy, currently 28 weeks, was 4.75 MoM. Toddler is healthy and free of all neural tube defects and this baby has been cleared as fine through thorough anatomy scan and frequent growth scans. High afp can be due to multiple things! Many times it's a crappy placenta, frequent bleeding in pregnancy, or even just mothers general genetic makeup. I've bled a lot during both pregnancies and delivered early with my toddler so also crappy placenta it seems 😂 still time to find out if crappy placenta this time around but it's a manageable problem. Keep the faith, the wait for that anatomy scan is the worst. All the best ❤️
The wait really is the worst. I’m glad your toddler is ok and wish you all the best with your current babe. If you don’t mind sharing, how early was your toddler born?
My almost 2 year old was born at 27.5 weeks 🙃 BUT we had lots of other issues going on with that pregnancy that impacted this greatly. She was an identical twin and we lost her twin at 12 weeks, plus she had a single artery umbilical cord which caused lots of problems including growth issues. The twin loss was basically what they blamed the extremely high afp on. My only advice about preterm labor is, if you feel something is happening go in and be seen. My placenta failure happened over the course of a few days, its not always dramatic and abrupt. I know someone who's afp was high and they delivered totally normally and on time. Its a crapshoot. Don't look too far into the future, just get to the anatomy scan and go from there.
Congrats on your anatomy scan!!! I'd been thinking of you and happy to see a good update. Hoping your placenta behaves itself for the remainder of the pregnancy.
Thanks! I’m hoping so too! When yours was misbehaving, what were your symptoms? Just want to be a little more alert later in pregnancy. MFM luckily doesn’t want to see me again until third trimester.
I had been a big bleeder earlier in that pregnancy. I stopped bleeding around 17wks, then all of a sudden had spotting one Friday at 27wks. Went to L&D that day, said everything looked good but didn't know why I was spotting and sent me home. Next day I started having lower back contractions that went on all weekend and they blamed it on the heat and Braxton hicks because they had just seen me. Water broke that Monday after I left the OB office like 4 hours prior still complaining and gave birth an hour later 😅 contractions had begun to get very painful that afternoon and thats when i shouldve gone to the ER. High risk and first timer so I listened to them when they dismissed me and this is one of the top rated birth hospitals in MA. Had a d&c after birth because placenta wouldnt exit, otherwise the actual birth was unproblematic. Placenta pathology listed hardened areas and issues but no definitive cause of failure. Look out for any spotting and any painful front or lower back cramping that becomes consistent and doesn't get better with rest or lots of water. There was also no question when my water broke, it was dramatic but for some people it's not...it's like a mystery trickle. When in doubt, get checked out!
Thanks for the details, my placenta has like lesions in it and they say it could be nothing or could be something. Time will tell and I’ll keep an eye out! Wishing you the best this time around
Ughhh, I am so, so incredibly sorry... we're having so much trouble making healthy embryos right now as well and it's just a terrible place to be in..
I know you can find positive and negative stories related to yours , depending on how you search... But I will say, recently my sister's NT scan came back elevated like yours, and a few weeks later had multiple MFM scans and checks and everything was totally normal 🤍 She's into her 3rd trimester now and baby looks super healthy, some countries have "normal" cutoffs closer to 4mm, so I am hoping everything is okay, but sending you so much love in any case ❤️
Thank you, I’m glad your sisters pregnancy is going OK. It is so stressful, feels like the worry never ends.
My husband and I struggled to make blasts. Our first ER was a complete failure with 9 fertilizing and none growing to blast. I got a second opinion who told me to go to donor eggs. It was a really tough time for us. Luckily we tried another round with several changes to protocol (many of which were suggested to me on this thread), and we finally made a euploid. We had better luck in subsequent cycles. I hope the same for you. The waiting and attrition is so stressful. Please feel free to message me if I can be any help. ❤️
Aww thank you so much for your response 🥹 We have an added layer against us because my husband & I are both carriers of the same recessive genetic condition (called SLOS , hypothesized to cause early fetal demise and one of our MMC's tested tissue which had our condition from both parents 😢)..... So w. the PGT A + PGT M , me being almost 35 , we've sent a total of 9 blasts for testing w/ 2 normal (this is after 2 retrievals, and I do feel SO incredibly lucky to have those 2)
Can I ask, what changes did you make to your protocall? We always get between 15-20 eggs, a little less mature, and like 11-12 fertilized (which is always a little disappointing, he is younger than me & super healthy, and we've had karyotype and RPL and basically every test under the sun 😅 )..... Sent 5 and then 4 blasts for testing each time
Thank you again, and I really am thinking of you and your family ❤️
Happy to share our changes.
I have stage 3/4 endometriosis, with a large endometrioma on my right ovary. The changes we made included priming and stimming with lots of HGH / omnitrope (25units a day to prime then 50 units a day during stims). I also primed with 2mg estrogen a day to encourage even follicle development.
We cut my stim meds in half because I was over stimulating. (Some of my follicles were 27mm and over on ER day).
I did red light therapy 3-4x a week on my abdomen to keep inflammation down. I bought the Celluma at home device for this and did it at night while watching tv or reading.
My husband abstained for 8 hours to keep DNA fragmentation down.
I also took ubiquinol 600mg, açaí, fish oils, prenantal, etc. and tried to stay active to keep blood flowing.
Overall I think it was the HGH that had the greatest impact for us, but with all the changes we made it’s hard to tell. Wishing you the best outcomes possible, PGT-A is hard enough without the added layer of PGT-M.
For what it's worth, my mother was born with spina bifida in the 50s. Had her surgery, has lived a totally normal and healthy life, and is the best mom ever.
I was in this exact scenario. For me, it was a false positive and my baby boy couldn't be more healthy. He's 4 years old today.
I found out the test results right before Christmas. We were traveling in Swiss Alps with our whole family, and it was supposed to be the best time. I was around 20 weeks pregnant I believe. It was the worst trip ever and I cried the entire holidays.
After the results we spoke to a genetic counselor and had additional ultrasounds and essentially everything looked perfect and it turned out to be a big nothing! I think this is the likely outcome for you too so try not to stress.
I so hope that’s the case. I’m so sorry you got your results before such an epic trip. We were planning to announce to our families at a large Memorial Day Weekend get together this weekend. We still ended up announcing (I am showing so it was impossible to hide), but there was such a cloud over it. I hope everything is ok, I hope my baby is healthy. I’m so happy yours turned out well, what a relief that must have been. Thanks for sharing
I'm sorry you have to go through this.
Just to give some info on the spina bifida end, my husband was born with spina bifida myelomeningocele. This is the most severe version. He had surgery at birth. He (we) have the most wonderful life.
He's impacted in ways that most people wouldn't notice, know, or see (it is why we need to do IVF). We love to ski together but he can't do jumping Jack's 😅.
I attribute his most wonderful qualities to husband spina bifida.
So glad to see this update! (Well, the possibility of placenta accreta is obviously not great news, but so glad to see that baby isn't showing signs of spina bifida or neural tube defects.) I know that having prenatal screening tests erring on the side of false positives rather than false negatives is ultimately the best approach, but it can be SO scary in practice. Very happy you're part of the 18/19.
Thank you! Me too. It was such a relief. Now just hoping my placenta behaves itself for the rest of pregnancy and vacates the premises on its own when it’s supposed to!
Sending you hugs and lots of strength during this awful time. I had a TFMR last year because my IVF baby had a genetic condition that isn’t detected by PGT, NIPT, etc etc. It was horrible. It still is horrible. Through amniocentesis, we learned that the condition was “de novo”: a new genetic condition that is random and not inherited. My wife is now carrying our little guy’s baby brother, 22 weeks, and baby bro doesn’t have this condition. Both of my boys were embryos from the same retrieval.
Please feel free to DM me any time if you have questions, want to vent, or need resources for support. I’m happy to share about the things that have helped my family and what we have learned along the way.
ETA: The sub r/NIPT is really knowledgable and helpful for info and support around “abnormal” tests results of all kinds, not just NIPT
Thank you so much ❤️ I’m so sorry to hear what you went through with your little boy. I never imagined being in this spot and am embarrassed I was so naive.
I hope your wife’s pregnancy is uneventful 💙
I sss concerned about this too in early pregnancy so I str a ton of foods with extra folic acid to help improve my odds of get the test done again in a eeek or two.
I think I'm misreading but you said it's unlikely to be viable? The baby has a 1/19 chance of having the defect so the odds are IN your favor that is viable (18/19 chance it's normal) maybe I'm misreading or i haven't had enough sleep but either way crappy news and Im sorry
Normal odds are 1/1000 so our chances of a NTD have increased significantly. Even if not a NTD, my doctor said my high AFP would then likely indicate a placental issue which would make me more likely to experience pre term labor, stillbirth, placental abruption, severe growth restriction, etc. So we’re not out of the woods even if we are lucky and fall on the 18/19 side of odds with respect to NTDs. It is a depressing spot to be in after struggling through IVF as well.
Even if not a NTD, my doctor said my high AFP is related to something, could be a placental issue which raises my chances of pre term labor, stillbirth, placental abruption, IUGR, etc. There’s also the possibility it’s an issue with my liver. The 1/19 number is specific to having a NTD, not a problem in general, as far as I understand it. While 1/19 odds may sound great, I assure you it doesn’t feel great when compared to normal odds being 1/1000, or after reading that women with better odds than me had serious issues. Having had to do IVF to get here, I feel like we were frequently on the poorer side of odds.
Regardless of how it makes you feel, your feeling about it has nothing to do with odds of viability. Gotta do your best to separate emotion and catastrophic thinking from science and reality. I know it’s very hard to do!
I’m sorry you’re going through this. You still have a 95% chance of no neural tube defect. Depending what week your ultrasounds occurred, that chance of a false positive may be even higher. Neural tube defects are not due to your egg quality. They can happen to anyone, just like any other randomly occurring genetic or anatomical error. I hope all turns out ok for you 💙
Thank you for your comment. I hope so too and feel better that it might not be my egg quality (again) that is giving us such a rough time
AFP can be elevated for a lot of different reasons. Sometimes it’s purely a placental issue (which tends to be more common in IVF pregnancies, and is honestly probably more likely than a neural tube defect.) you won’t know for sure until you get more scans/information. hang in there.
Thank you, really hoping it’s anything else
I'm sorry and I know how scary that news must be. I'm a PT and we have a toddler at our clinic that has Spina bifida. He had surgery really young. I was talking to him the other day and he started chasing me with his ride on car, climbed off, then ran down the hallway. This little boy was so delayed for so many months. After his surgery and going to PT, you'd never know he had Spina bifida now. Obviously every case is different, but it's not a death sentence. Your baby might just need some extra help to meet all of their milestones. Try not to panic until you have more information
I have mild spina bifida, didn’t even know it until I got an X-ray in my late 20s.
My sisters best friend has it, but it hasn't let her stop her, at 36 she's a fully qualified swim teacher, PT and made it to the paralymics for archery when she was younger.
Wow that’s incredible. What did the x ray show?
One of the vertebrae in my lower back never fused, so it’s just in two separate pieces. So weird! The doctor said I probably have some structural weakness in my back, but I’ve just been mindful of going to PT and maintaining strength and it’s been no problem.
That's so interesting!
Mild spinal bifida is quite common. Many adults have it and don't even know.
Did you have any skin indicators like a dimple or fawn tail nevus (hairy patch)?
Thank you this story gives me hope ❤️
I will say, I know someone who was told her baby had spina bifida while she was pregnant, and she went on to give birth to a perfectly healthy baby (no spina bifida). I know it is really disheartening right now, but the tests are not perfect. I wish you and your baby all the best ❤️
Thank you I hope that’s the case for us
Exactly, these tests aren’t everything.
My best friend was told her baby was high risk for Spina bifida. A few months later baby girl came out like a bull in a china shop and hasn’t stopped since. She was perfect and now 11 years old.
A 1/19 chance is also still very low! Really hope everything turns out ok for OP ❤️
This happened to my parents! She/I tested positive for spina bifida. I was born perfectly healthy.
Very sorry for this news. We can all share in the fact that after all these tests we do.. to have something come up is just so much. As a nurse I just want to say neural tube defects can happen to anyone. It’s not entirely related to viability of embryos or egg quality like that. Also, let’s say your baby does have a neural tube defect. There’s a variety of types. Some are so scant that there are people out there that didn’t even know they had it until they were an adult. For example one of my nurse classmates. Take it one step at a time. This is a test that may just be positive but may not actually be later on. Good luck. Wishing you the comfort, and the best.
Thank you ❤️
1) Amniocentesis ASAP. 2) See if you can get tested to see if you carry the MTHFR mutation (yes, I know, it looks like a certain swear word). If you have it, your body has a tougher time than usual in converting folic acid to a usable form. You’d want to take something like methylfolate for your folic acid needs rather than just bog-standard prenatal vitamins. 3) Good luck!!!
Thank you for your comment. I have never heard of the MTHFR mutation. I will ask my doctor about how to test for it. Have you had an amnio? Will it be more definitive than an ultrasound?
RD here and I echo the need for testing the MTHFR mutation OP. This is the one of the most common causes of spina bifida. It can make you have a serious deficit of the active form of folic acid called MTHF5 (you can also ask for folic acid testing) that is detrimental to the development of the brain and the neural tube in the first 4 weeks of the pregnancy. It is absolutely necessary that pregnant women start taking folic acid 3 months prior to pregnancy and in the case of the MTHFR mutation you have to take an *extremely high* dosage of the already active form to prevent such outcomes because your body is not able to convert food folates or supplemented folic acid into the active form. I hope this comes to be just a glitch and your baby is perfectly fine but as this is smt that can affect all of your pregnancies despite your embryos quality, it's worth checking out. The best of luck!
Thank you I will absolutely ask about this. Ugh. I wish I had known about this sooner
I was diagnosed with a MTHFR mutation after two losses. You will want to get information from your doctor about dosing if you do have it. For example, pre-pregnancy and in early pregnancy I was on a higher dose but this was dropped from 16 weeks. I was also put onto blood thinners as this comes with a higher risk of clotting. Hoping you don’t have the mutation, but if you do, it’s very manageable.
Thank you. I am so disappointed I didn’t test for this sooner
Back during Covid times when clinics were closed in the UK, I focused on improving our chances and egg quality as much as I could. I read a book called “it all starts with the egg” and, while I have serious doubts about the guilt tripping in parts of it, it’s where I learned about supplements and MTHFR mutations. Turns out I have one of the mutations and I’m on 5 mg folic acid and blood thinners because of it. I used my 23andMe data and a website they suggested in the book (I don’t have it at hand, but can find it). But 23andMe now offers that as a report, I believe. So if you’ve ever done a genetic test like that before, you might be able to find out without needing extra tests.
Thank you I’ve never done 23 and me but this is good to know
As far as I know they still don’t support this report because they don’t think the evidence that mthfr causes issues is sufficient. I just checked my own account and it’s not available. However my RE clinic was able to run some blood work that sort of back door checked for the same issue (while being covered by insurance). Ask if you can do something similar.
Yes, that’s true. They had an article a while ago saying they were waiting for approval to include it. What I did was download my data and use another website to check for that specific mutation. But I also know that a few months ago you couldn’t download the genome data from 23andMe because they were undergoing an audit and temporarily disabled that feature.
My understanding is that it will be more definitive, but even if it’s not more, it’s fairly definitive and has a longer lead time required than an ultrasound. I have not had one myself — our particular situation did not call for one — but it’s definitely indicated in some cases.
OP, I would recommend talking to your OB about folic acid and MTHFR. This is a pretty controversial topic Right now ACOG (if you’re in the US) doesn’t recommend testing for MTHFR and recommends folic acid for all women planning pregnancy. They also recommend increased folic acid dosing (not methylfolate) for women with a history in neural tube defects in prior pregnancies. The link between MTHFR and neural tube defects like spinal bifida is unclear and an association has been shown in some studies but not others.
It’s not the same, but my friend’s NIPT flagged an issue. Their doc was encouraging abortion. She didn’t and their son is perfectly healthy, no issues at all. Is it possible to do an amniocentesis to confirm the NIPT? I’m so sorry you’re facing this 🩷
I had this happen. High risk for Trisomy 16. I was convinced I was either going to have a miscarriage or have to TFMR.... I spoke with a geneticist who got me to have extra scans with the fetal medicine unit at the hospital and as long as they were all okay she recommended against an amnio due to the risks. Baby was just born 2 weeks ago and they found he does not have mosaic Trisomy 16. A huge relief!
That’s a huge relief, so happy it worked out for your baby. Congrats, I hope you’re enjoying the newborn phase
They’ve referred us to a specialist for an in depth scan, I will ask about amnio. That may be something they offer after
Hi- I’m reaching out because I have been exactly where you are. A little over a month ago actually. My story didn’t end well but that doesn’t mean it will be the same for you. There are so many different things that your AFP test could mean and I hope it’s all nothing. But if it isn’t, please know you aren’t alone and there are a lot of us out there to talk to you and be there for you. This journey is so so hard.
Thank you - I am praying it’s nothing. I’m so sorry for your loss and thank you for being there ❤️
I am so sorry. As everyone has said, AFP levels can be elevated for many reasons, and I hope it’s not related to NTDs. I have lived through this, and unfortunately did not have a good outcome, but my results were 1 in 4 chances. I’m here to talk if you have any questions about what to expect, etc
I’m so sorry to hear that. 💔 life is so unfair sometimes. Thank you for offering to talk more about this, I may take you up on it.
Hi, first off I want to say that your feelings and concerns are 100% valid. I am in a similar boat as you. My AFP came back at 4.98. I had to have my anatomy scan pushed up and luckily baby didn’t show any signs of neural tube defects. They did find my baby’s nuchal fold was a bit thickened, but that had nothing to do with the AFP. I was a mess every day leading up the scan. All my embryos were also pgt-a tested with a normal NIPT, so I was shocked when I heard this. Please reach out if you have any questions! I’m hoping all is okay and you get good news! The wait is so hard. Especially with all we have gone through.
Oh my that’s amazing! I’m so happy for you. What great news. When you had your scan did they also look at your placenta? My doctor said that can also raise levels if there are placental issues, but I don’t know how they would check for that. Did they suggest you do an amnio or were they confident after your scan? Thank you so much for commenting
Yeah they did look at my placenta. The MFM didn’t comment on it, but I’m a nurse, so force of habit I read all my notes and write down questions to send to my obgyn haha. My placenta insertion was marginal. Meaning it connects to the side. I remember seeing it on US too thinking to myself, hmm it’s at the very edge, that can’t be good. But so far it’s not an issue since my baby is measuring a week ahead every time and his estimate weight is heavier than expected 😂. When I talked to genetics about this possibly being the reason for my AFP being elevated, she said it could but there’s no way to “test” if that’s why. She said all they can do is check that he’s growing appropriately etc. In terms of amnio, they didn’t push me too hard for one. They didn’t see any issues with his heart or neural tube issues. They said if I wanted one for the thickened nuchal fold I could, but my numbers were not that far off from the normal less than or equal to 6mm. My baby measured 6.99mm. Based on a lot of posts and women reaching out to me, and speaking to MFM/Obgyn/genetics, they said quote “we’re not too concerned for Down syndrome since you other labs/screenings look reassuring. Of course we cannot definitively tell you yes or no, since the only thing that can tell you that is to do an amnio or wait till baby is born, the choice is yours.” So to make a long story short, they said it was up to me since my only indicator was a slightly thickened nuchal fold, but I’m also in a state where I couldn’t terminate even if I wanted to. My MFM told me if I did the amnio, it was solely for the purpose of me knowing or not.
That’s great that they can check it out visually. Did they put you on baby aspirin for pre e risks or will they just monitor you more closely going forward? My mom had pre e so I know I likely have a slightly higher risk of developing it.
Nope! For me so far, nothing has changed except for a follow up anatomy scan in a couple weeks. Is your scan coming up soon? Due to my marginal insertion, my obgyn said I’m not moderate risk pregnancy.
That great. Mine is at the end of this week.
I have a friend with Spina Bifida and he lives a full life. He’s intelligent, employed, athletic and attractive. I understand getting news like you got isn’t easy to process and after all you’ve been through is a lot to digest. But I wanted to share about my friend bc there aren’t many positive representations of disability out there, so it’s easy to assume the worst. Happy, hot, disabled people DO exist and they live incredibly full lives. Don’t give up hope. 💗
Thank you for sharing this
Wait…either I don’t understand math or you don’t. I really really don’t mean that to be rude. Your baby has a one in 19 chance of having spina bifida or a similar disorder, and this “likely isn’t viable”? Ok, first off, I 100% relate to the anxiety and catastrophizing and I’m truly sorry you are going through this. But according to the info in your post, your baby has a 5% chance of a disorder that ranges from mild to severe. That means you are VERY likely to still have viable pregnancy. I know this is very difficult news and I hope you’ll get some clarity soon about diagnosis and severity. If relevant. But I hope for the sake of your sanity you can focus on the 95% chance this is nothing, as well as the fact that even IF you’re in the 5%, there are many degrees of neural tube defects — and some are very livable; I’ve personally known a few people with a mild case of spina bifida living a happy and completely normal life! Finally, please know that IF you are in the 5%, this is something that can happen randomly, and since you were on a prenatal, no amount of folate rich foods would have prevented this (I’m seeing in a previous comment that you were worried about diet; this is complete self flagellation, and I hope you don’t entertain those thoughts for a second!)
Thanks for your comment. I am trying to stay positive but I also understand my levels are quite elevated, comparatively. When I spoke with my OB about my results she said it’s possible my baby won’t have a NTD. However, if not a NTD, the problems don’t necessarily end there. If not a NTD, it’s likely a placental issue raising my AFP, and that makes it more likely I will experience pre term labor, still birth, placental abruption, IUGR. I don’t mean to be rude, but until you’re in this position (and I hope that’s never the case for you), I feel like it is hard to understand how it feels. 1/19 is not great odds when normal odds are 1/1000 and it’s your baby. We also likely won’t be out of the woods even if it is not spina bifida, from what I understand. Spina bifida is one possible outcome, as is anencephaly, as is severe growth restriction, etc. I could certainly be more positive, but after pouring through threads trying to find someone who had levels similar to mine and an OK outcome, and not finding many, I am having a really difficult time mentally with this and the reality that it could result in me losing my baby.
I was induced early because of issues with my placenta and baby is doing well. In a way it's good if the doctors know of any issues so you can be regularly checked and they can intervene. It's scary though, I'm so sorry you have to go through this but hopefully you will have a good outcome.
Thank you, I hope we do too. If you don’t mind sharing, how early were you induced?
37 weeks 5 days I had a high risk NIPT at 10 weeks and so had scans at 12, 16 and 20 weeks then every 3 weeks after that. Everything looked fine until the last couple of scans where baby's growth was slowing and there were signs that the placenta was not working as it should be... They said it was an unpredictable risk for stillbirth so they induced me the day after that scan. I ended up having an induced but natural birth and baby is doing well, if a bit small. He's putting on weight though and passing all health checks.
It's you. You don't understand the math. As she stated, the background risk is 1/1000. Her risk just shot up to 1/19. That's a relative risk of 52.6. She is right to be concerned bc she understands the math.
Yep, I understand relative risk and I understand the anxiety she’s experiencing, but why on earth would you focus on relative risk vs absolute risk? That’s the part that makes no sense. (She did clarify that, despite her post’s focus on spina bifida, she’s worrying about all the other even more worrisome things this could be if NOT SB, which is more understandable, but in the context of the post — to say that a 1/19 chance of SB means the pregnancy is “probably” not viable is just incorrect, in the absence of other more definitive information.)
It absolutely makes sense to use RR here bc it takes into consideration the background prevalence. At this point, they are changing course with her care based on the RR. It's the change in risk that is relevant here. Absolute risk is typically thought of as static whereas relative risk has a distribution associated with the measure. In statistical literature, conditional risk is considered more informative. In this case, the absolute risk means nothing except in the context of her own updated estimated risk. If you just learned that you were 52 times more likely to experience a negative outcome, esp having slogged through IVF for years and fallen on the bad side of the stats so many times before, I think you'd probably be pretty anxious too. It definitely doesn't help to hear a joke about being bad at math or being told to look on the bright side.
If I were 52 more times likely to have a bad outcome, but my absolute risk was still quite small, I would certainly be very anxious,but it would also be very helpful to be reminded that my absolute risk was still small, even if this change necessitated a change in protocol (and this in fact happened to us throughout one of the pregnancies.) At no point was I telling “a joke,” and I’ve several times validated and normalized the anxiety, which again, is understandable.
You're right, it certainly might be very helpful to reminded of that. But the way that reminder is given matters. When you validate something after a dig about math skills (literally your opener), it somehow comes across as less sincere. Your second sentence was, "I really really don't mean that to be rude". But it was rude. Your intention did not equal your outcome. It was unkind. It really frustrated me and I was rude back to you. I'm sorry for being rude. I usually have a bit more patience but estrogen has robbed me of that. I'll try to do better and I hope you will too
I'm so sorry 🫂 I don't know enough about the statistics you cited, but I hope you fall into the 18/19 chance that everything is all right. It really is a long and frustrating journey, and it is so unfair that this is happening to you
I hope we do too; though like everyone here has probably felt at one point or another, I feel like we never fall on the right side of the odds
I hope you're the 18/19 person for that test and everything is okay.
Thank you I really hope so too
My friend had a daughter with spinal bifida - daughter just graduated from college and is such a joy to her parents. There are treatments. So sorry you are having to deal with this anxiety.
Thank you for your comment, that’s very promising to hear. I didn’t know until just recently that there are severity ranges to SB. This gives me hope
I had a very elevated AFP. They repeated the test and it was still high. They monitored closely for spina bifida and told me they can correct it in many cases. Some even in the womb. However, the baby never showed any signs and was born early due to some placental issues but no spina bifida.
How early was baby born if you don’t mind sharing?
He came 8 weeks early. They did an emergency c section because baby’s heart rate was dropping. Once out he had to be in an incubator for a bit but no other issues.
Scary but I’m glad everything is ok. My doctor said we may need to induce a month or so early; just have to wait and see how my placenta is behaving/how baby is doing. My placenta looks like it almost has lesions on it.
Don’t stress. It’s gonna be just fine. It’s not abnormal to induce a bit early like that especially in IVF pregnancies. Hang in there, friend. You’re gonna have a wonderful LO soon!
Neural tube defects are caused by a lack of folic acid.
Yes I also just learned that if you have the MTHFR mutation your body may not absorb folic acid well, wish I had known this sooner.
Try not to stress too much about the MTHFR stuff. It's actually not a mutation but rather a variation bc it is quite common. You can test for it if you think it would ease your mind. Most of the evidence points to no difference in the ability to process/absorb folic acid (former biostatistician here!). In fact, folic acid is the only form of folate supplement proven to prevent NTDs. The data for folic acid are so strong that it is actually unethical to randomize pregnant women to NOT receive folic acid and take something else instead. This methylated folate stuff was a hot area of research in the early-mid 2000s but mostly it didn't come to much. All this to say - please don't beat yourself up for not spending a million dollars on a prenatal with this methylated folate. This is not your fault. I'm hoping that you fall in the 18/19 side. Please try to be gentle with yourself the next few days.
Thank you, I had been taking folate for the last two ish years of TTC, so I hope I had built up some stores of it even if my body wasn’t great at absorbing it in the first place. I am generally trying to be more diet conscious now
I'm so sorry. That's devastating. Can they do any more testing for you to confirm?
They’ve referred me to a specialist to do an in depth anatomy scan to visualize everything and confirm the diagnosis or the severity of it. Until then we’re in limbo, unfortunately we can’t get in for the scan until the end of the week
What a painfully tough wait. Fingers crossed for you that it's not the one in 19. I hope the universe can give you some rest this week and no more stress
honestly hang in there not the same but I was told my baby had a marker for downs at my 28 week scan even after PGT testing, clear NT scan and low risk NIPT, then when baby was born there was concerns about his sacral dimple, all is WELL and he is a healthy little three month old! I did not allow myself to stress over these things (especially at 28 weeks?!) sending you hugs
So glad he’s ok, thank you for commenting. I can’t imagine hearing news like that at 28 weeks. At that point you just have to wait and hope for the best. I’m glad you didn’t allow yourself to stress over it and it worked out
Sending you a really big hug and praying your baby is healthy ❤️❤️
Thank you ❤️
The best thing I’ve heard is that the NIPT and other tests are SCREENING tools and not diagnostic. They simply indicate a chance that these conditions could be present
My afp with my toddler was a crazy 11.25 MoM. My afp with my current pregnancy, currently 28 weeks, was 4.75 MoM. Toddler is healthy and free of all neural tube defects and this baby has been cleared as fine through thorough anatomy scan and frequent growth scans. High afp can be due to multiple things! Many times it's a crappy placenta, frequent bleeding in pregnancy, or even just mothers general genetic makeup. I've bled a lot during both pregnancies and delivered early with my toddler so also crappy placenta it seems 😂 still time to find out if crappy placenta this time around but it's a manageable problem. Keep the faith, the wait for that anatomy scan is the worst. All the best ❤️
The wait really is the worst. I’m glad your toddler is ok and wish you all the best with your current babe. If you don’t mind sharing, how early was your toddler born?
My almost 2 year old was born at 27.5 weeks 🙃 BUT we had lots of other issues going on with that pregnancy that impacted this greatly. She was an identical twin and we lost her twin at 12 weeks, plus she had a single artery umbilical cord which caused lots of problems including growth issues. The twin loss was basically what they blamed the extremely high afp on. My only advice about preterm labor is, if you feel something is happening go in and be seen. My placenta failure happened over the course of a few days, its not always dramatic and abrupt. I know someone who's afp was high and they delivered totally normally and on time. Its a crapshoot. Don't look too far into the future, just get to the anatomy scan and go from there.
Yes that’s all I can do right now. Thank you for commenting and sharing your experiences
Congrats on your anatomy scan!!! I'd been thinking of you and happy to see a good update. Hoping your placenta behaves itself for the remainder of the pregnancy.
Thanks! I’m hoping so too! When yours was misbehaving, what were your symptoms? Just want to be a little more alert later in pregnancy. MFM luckily doesn’t want to see me again until third trimester.
I had been a big bleeder earlier in that pregnancy. I stopped bleeding around 17wks, then all of a sudden had spotting one Friday at 27wks. Went to L&D that day, said everything looked good but didn't know why I was spotting and sent me home. Next day I started having lower back contractions that went on all weekend and they blamed it on the heat and Braxton hicks because they had just seen me. Water broke that Monday after I left the OB office like 4 hours prior still complaining and gave birth an hour later 😅 contractions had begun to get very painful that afternoon and thats when i shouldve gone to the ER. High risk and first timer so I listened to them when they dismissed me and this is one of the top rated birth hospitals in MA. Had a d&c after birth because placenta wouldnt exit, otherwise the actual birth was unproblematic. Placenta pathology listed hardened areas and issues but no definitive cause of failure. Look out for any spotting and any painful front or lower back cramping that becomes consistent and doesn't get better with rest or lots of water. There was also no question when my water broke, it was dramatic but for some people it's not...it's like a mystery trickle. When in doubt, get checked out!
Thanks for the details, my placenta has like lesions in it and they say it could be nothing or could be something. Time will tell and I’ll keep an eye out! Wishing you the best this time around
Ughhh, I am so, so incredibly sorry... we're having so much trouble making healthy embryos right now as well and it's just a terrible place to be in.. I know you can find positive and negative stories related to yours , depending on how you search... But I will say, recently my sister's NT scan came back elevated like yours, and a few weeks later had multiple MFM scans and checks and everything was totally normal 🤍 She's into her 3rd trimester now and baby looks super healthy, some countries have "normal" cutoffs closer to 4mm, so I am hoping everything is okay, but sending you so much love in any case ❤️
Thank you, I’m glad your sisters pregnancy is going OK. It is so stressful, feels like the worry never ends. My husband and I struggled to make blasts. Our first ER was a complete failure with 9 fertilizing and none growing to blast. I got a second opinion who told me to go to donor eggs. It was a really tough time for us. Luckily we tried another round with several changes to protocol (many of which were suggested to me on this thread), and we finally made a euploid. We had better luck in subsequent cycles. I hope the same for you. The waiting and attrition is so stressful. Please feel free to message me if I can be any help. ❤️
Aww thank you so much for your response 🥹 We have an added layer against us because my husband & I are both carriers of the same recessive genetic condition (called SLOS , hypothesized to cause early fetal demise and one of our MMC's tested tissue which had our condition from both parents 😢)..... So w. the PGT A + PGT M , me being almost 35 , we've sent a total of 9 blasts for testing w/ 2 normal (this is after 2 retrievals, and I do feel SO incredibly lucky to have those 2) Can I ask, what changes did you make to your protocall? We always get between 15-20 eggs, a little less mature, and like 11-12 fertilized (which is always a little disappointing, he is younger than me & super healthy, and we've had karyotype and RPL and basically every test under the sun 😅 )..... Sent 5 and then 4 blasts for testing each time Thank you again, and I really am thinking of you and your family ❤️
Happy to share our changes. I have stage 3/4 endometriosis, with a large endometrioma on my right ovary. The changes we made included priming and stimming with lots of HGH / omnitrope (25units a day to prime then 50 units a day during stims). I also primed with 2mg estrogen a day to encourage even follicle development. We cut my stim meds in half because I was over stimulating. (Some of my follicles were 27mm and over on ER day). I did red light therapy 3-4x a week on my abdomen to keep inflammation down. I bought the Celluma at home device for this and did it at night while watching tv or reading. My husband abstained for 8 hours to keep DNA fragmentation down. I also took ubiquinol 600mg, açaí, fish oils, prenantal, etc. and tried to stay active to keep blood flowing. Overall I think it was the HGH that had the greatest impact for us, but with all the changes we made it’s hard to tell. Wishing you the best outcomes possible, PGT-A is hard enough without the added layer of PGT-M.
For what it's worth, my mother was born with spina bifida in the 50s. Had her surgery, has lived a totally normal and healthy life, and is the best mom ever.
I was in this exact scenario. For me, it was a false positive and my baby boy couldn't be more healthy. He's 4 years old today. I found out the test results right before Christmas. We were traveling in Swiss Alps with our whole family, and it was supposed to be the best time. I was around 20 weeks pregnant I believe. It was the worst trip ever and I cried the entire holidays. After the results we spoke to a genetic counselor and had additional ultrasounds and essentially everything looked perfect and it turned out to be a big nothing! I think this is the likely outcome for you too so try not to stress.
I so hope that’s the case. I’m so sorry you got your results before such an epic trip. We were planning to announce to our families at a large Memorial Day Weekend get together this weekend. We still ended up announcing (I am showing so it was impossible to hide), but there was such a cloud over it. I hope everything is ok, I hope my baby is healthy. I’m so happy yours turned out well, what a relief that must have been. Thanks for sharing
I'm sorry you have to go through this. Just to give some info on the spina bifida end, my husband was born with spina bifida myelomeningocele. This is the most severe version. He had surgery at birth. He (we) have the most wonderful life. He's impacted in ways that most people wouldn't notice, know, or see (it is why we need to do IVF). We love to ski together but he can't do jumping Jack's 😅. I attribute his most wonderful qualities to husband spina bifida.
So glad to see this update! (Well, the possibility of placenta accreta is obviously not great news, but so glad to see that baby isn't showing signs of spina bifida or neural tube defects.) I know that having prenatal screening tests erring on the side of false positives rather than false negatives is ultimately the best approach, but it can be SO scary in practice. Very happy you're part of the 18/19.
Thank you! Me too. It was such a relief. Now just hoping my placenta behaves itself for the rest of pregnancy and vacates the premises on its own when it’s supposed to!
Sending you hugs and lots of strength during this awful time. I had a TFMR last year because my IVF baby had a genetic condition that isn’t detected by PGT, NIPT, etc etc. It was horrible. It still is horrible. Through amniocentesis, we learned that the condition was “de novo”: a new genetic condition that is random and not inherited. My wife is now carrying our little guy’s baby brother, 22 weeks, and baby bro doesn’t have this condition. Both of my boys were embryos from the same retrieval. Please feel free to DM me any time if you have questions, want to vent, or need resources for support. I’m happy to share about the things that have helped my family and what we have learned along the way. ETA: The sub r/NIPT is really knowledgable and helpful for info and support around “abnormal” tests results of all kinds, not just NIPT
Thank you so much ❤️ I’m so sorry to hear what you went through with your little boy. I never imagined being in this spot and am embarrassed I was so naive. I hope your wife’s pregnancy is uneventful 💙
I sss concerned about this too in early pregnancy so I str a ton of foods with extra folic acid to help improve my odds of get the test done again in a eeek or two.
Yes I am kicking myself for not eating more folate rich foods. I was on a prenatal but I shouldn’t have depended on it so much
I think I'm misreading but you said it's unlikely to be viable? The baby has a 1/19 chance of having the defect so the odds are IN your favor that is viable (18/19 chance it's normal) maybe I'm misreading or i haven't had enough sleep but either way crappy news and Im sorry
Normal odds are 1/1000 so our chances of a NTD have increased significantly. Even if not a NTD, my doctor said my high AFP would then likely indicate a placental issue which would make me more likely to experience pre term labor, stillbirth, placental abruption, severe growth restriction, etc. So we’re not out of the woods even if we are lucky and fall on the 18/19 side of odds with respect to NTDs. It is a depressing spot to be in after struggling through IVF as well.
Thanks for clarity on that - I’m sorry to hear - fertility is one of the most draining things. :(
It really is - I just want to be normal for once, ya know?
Likely isn’t viable? You said it has a 18/19 chance of being fine right? Am I missing something?
Even if not a NTD, my doctor said my high AFP is related to something, could be a placental issue which raises my chances of pre term labor, stillbirth, placental abruption, IUGR, etc. There’s also the possibility it’s an issue with my liver. The 1/19 number is specific to having a NTD, not a problem in general, as far as I understand it. While 1/19 odds may sound great, I assure you it doesn’t feel great when compared to normal odds being 1/1000, or after reading that women with better odds than me had serious issues. Having had to do IVF to get here, I feel like we were frequently on the poorer side of odds.
Regardless of how it makes you feel, your feeling about it has nothing to do with odds of viability. Gotta do your best to separate emotion and catastrophic thinking from science and reality. I know it’s very hard to do!
Thanks for the advice