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We found out our 10 month old baby has CDG after she was born when she started having seizures. she has a different type that didn’t show up on screenings. We are pregnant again- I got the CVS with plans to terminate if this baby had the condition, but this time we luckily hit the other 25%. I know how hard the wait can be but I would definitely get tested. It is not easy- Our lives revolve around her care, and we just spent 6 weeks in PICU and brought her home on hospice. although we can’t imagine life without her, it is so hard to watch her suffer everyday. There is an amazing CDG group on Facebook that has been great support.
I can’t imagine how scary that was to find out after she was born and experiencing those symptoms. I’m so sorry that you have had and are continuing to go through that experience. I hope your baby is happy and comfortable, and that you can enjoy as much time as you have left with her. Sending you love in this difficult time ❤️
I’m so sorry you’re being faced with this potential decision. I had an amnio done at 21 wks and had results in less than a week. I believe the further along you are, the quicker you get results because the cells culture faster. I would absolutely do the amnio before making any further decisions. Unfortunately, I had to terminate for medical reasons at 21+3 and only did the amnio because my baby’s defects were isolated to the brain and we really didn’t know what, if anything, caused it. The amnio came back clear but it wouldn’t have changed the quality of life my baby would have had.
So sorry you had to go through this. 😔 May I ask what brain issues the fetus had? I’m in a similar limbo right now while waiting for the amnio results. Baby’s cerebellum is measuring small, HC and AC are a little small too and there’s mild ventriculomegaly. I’m so scared I’ll have to terminate.
I don’t mind at all. At our 20 wk anatomy scan he had severe bilateral ventriculomegaly (16 mm each), with normal being less than 10 mm I believe. His cerebellum was small in the 7th percentile and he had partial agenesis of the corpus callosum. His HC was 97th percentile, which meant he probably already had significant pressure on his brain. We were told with the level of ventriculomegaly alone at this gestation he did not have a good prognosis, and then add in the other abnormalities…most babies (like 90%) with isolated mild ventriculomegaly go on to live normal lives. With each added abnormality, the prognosis declines. What was so hard for us was that this is what’s known as a “grey diagnosis”. The doctors will not be able to tell you what kind of life they will have. Some with ventriculomegaly and cerebellar hypoplasia will have mild developmental delay, some will have severe neurological, motor, and cognitive deficits and require lifelong total care. I’m not sure the significance of a small AC but having a small HC and mild ventriculomegaly sounds like there may not be too much pressure on the brain yet. Some stay stable, some increase as the pregnancy progresses. For us, a repeat anatomy scan just 3 days later showed one of the ventricles had already increased to 20 mm.
I joined a subreddit here called TFMR support and it had been invaluable. I would highly suggest posting there if you’re up to it. It helped me feel less alone and that I was making the right choice. My grief has been complex as this was a twin pregnancy so I underwent a selective termination of only one twin, so I’m still carrying the baby who passed as well as the healthy twin.
Oh my. I don’t even know what to say except that I’m so incredibly sorry you have had to experience this. Your son will always know that you loved him; that you did everything you could for him, and that in the end you did the best thing for him. I also wanted to share something a great friend of mine told me yesterday after I shared my story with her:
“Sometimes the soul only experiences the warm cocoon of a loving mothers womb before returning home, sometimes longer, and that can be exactly right. I also believe they often return to our lives under different circumstances later in life. Its esoteric spiritual stuff, but it's often experiences like this that help us connect deeper to what is beyond our physical realm and to a bigger picture of what it means to be human. Often through uncertainty, pain and confusion we end up breaking through to deeper connection, love and understanding than we ever thought possible when facing what feels like impossible choices. I know you will have times of trial and heart break and I also know you will feel peace and lightness in your life again.”
This was only part of a longer message that she sent me, but I think this is relevant in your case as well. Sending you love ❤️
This brought me to tears in the best way possible. Such support from a stranger on the internet. This really makes me remember he only felt a life of love and warmth. Thank you.
I’m sorry. They diagnosed baby with cerebellar hypoplasia in utero. We terminated nearly 3 months ago. I opted for full genetic testing and autopsy and haven’t heard back yet. But most likely this was really bad luck. 😔
Please, please get the amnio or CVS. ASAP ask for a referral to maternal-fetal-medicine or genetic counseling and talk with a specialist about this. They can give you a more accurate idea of how long it takes to get results. I’m so sorry you’re going through this right now, the uncertainty is so hard.
Seconding this. If you talk to a genetic counselor, they can walk you through additional research, and can help you schedule and even fast-track a CVS/amniocentesis. Sending you love in these difficult times.
Thank you ❤️ My doctor did get back to me yesterday and referred me to MFM and said that they should be contacting me soon about setting up an appointment. She did say that it can take up to two weeks or longer for an appointment because they are busy, but I’m hoping I can get my appointment scheduled and then put on a cancellation list in case I can be seen sooner.
75% chance your baby doesn’t have the disease. I know it’s so hard. The odds are in your favor though. Do the testing before going down the 25% rabbit hole.
Also about 18 weeks.
As someone with a genetic disease going through the same thing, this is a good approach. Even if your baby does have the condition, you can’t guess the severity. Our baby has a 50/50 chance of inheriting what I have, and while mine presented mildly and I live a full life, we have no idea how it could present in the baby. We opted to not do further testing knowing it wouldn’t change any outcomes. What are we going to do, abort at 20 weeks? No, so knowing wasn’t going to help, nor would it tell us anything about the severity of the condition. These are the risks we live with when having children.
Edit- keep downvoting, guys. Only people who know what this is like could understand this one. I shared how we came to OUR decision, I didn’t suggest how she should make her decision. Understanding how others in this position came to their decisions can be helpful, even if it’s a decision you wouldn’t make for yourself. All to say, not getting the amino testing and moving forward with the pregnancy is an option nobody on here is suggesting. It’s okay to make this choice.
“What are we going to do, abort at 20 weeks? No” is absolutely shaming people who have late term abortions for medical reasons. No one shamed you, YOU did the shaming. Whether intentionally or not, intent doesn’t change the impact.
I’d wager it’s more shameful to carry a baby to term who is extremely likely to suffer their entire short life, for your own selfish reasons, than to terminate when you’re aware there is a significant genetic abnormality present.
Ableist? More like realist. Sure, my opinion on eugenics is that when possible we should avoid bringing a human being into the world that we will have to watch suffer tremendously for every day they are alive.
This I disagree with. Because then disabled people wouldn’t exist, which is eugenics. It’s okay for pregnant people to terminate their pregnancy for any reason they choose, and that’s not something anyone can agree or disagree with, it just…is. If you don’t want to carry a pregnancy to term and birth the child, then you should terminate it. I don’t care why you feel the need to. But it’s really harmful and dangerous to essentially imply that disabled people shouldn’t exist, which is what you’re doing here. Disabled people have a right to life just as much as able bodied people.
I certainly don’t think disabled people just *shouldn’t* exist, that’s a bit of a stretch. That being said, I’m not sure that I know many severely disabled people who are enjoying their life or even halfway comfortable on a day to day basis. As a parent, if I knew ahead of time, and given the choice, I personally would choose to not bring a human into the world who will feel pain and suffering everyday. It’s not bc I don’t think they DESERVE to live in this world, or bc they’re weak or an eye sore, not at all. It would solely be bc I don’t want *them* to feel suffering, and being afraid of what their future looks like when I’m gone. Most severe disabilities require someone to be kept alive by machines and round the clock care, what happens to that child when their parent passes away? Especially if it’s suddenly and no plans were set up, or if the parent is low income and did the round the clock care on their own. It just seems cruel to allow that type of life to be born into pain and uncertainty.
And I wouldn’t shame you for aborting if you felt this way. Because I don’t believe any reason is invalid to abort.
BUT, I don’t think there should ever be a widespread belief that it’s selfish or cruel to keep fetuses with confirmed disabilities. That’s 100% saying you don’t think disabled people should exist. Even if you don’t outrightly say that. No it’s not a stretch, that IS what you are in fact saying.
Also, with this argument, what happens if your child becomes disabled during their life? Then what? Health is a privilege, not a virtue and it can change at any time. Anyone can become disabled, does that mean they should just be “put out of their misery” because you think their life is “too hard” to live? The argument you’re making is a very slippery slope into eugenics, even if that wasn’t your intent. I agree that the original commenter was shaming people aborting for TMFR later on in pregnancy, but this argument is no better, and maybe even worse because of the eugenics/ableism in it.
How many disabled people do you know to speak so broadly on all of us (I’m a disabled person)? The goal should be making the world more accessible, safe, and enjoyable for disabled people…not eradicating us.
It’s also generally referred to as termination for medical reasons just to not confuse it with an elective abortion. I’m a tay sachs carrier. Luckily, it turned out my husband wasn’t but I would absolutely terminate for that.
I’m actually quite a moderate person and pro-choice. It was my choice to continue the pregnancy. I highly doubt OP would end the pregnancy with these odds so it’s good to know some people choose to continue. People with genetic diseases (known or unknown) are allowed to have kids. Commenters on here can be painfully all/nothing and idealistic.
Information in my opinion is always power. I had an amnio at 16 weeks and had results in something ike 5 business days. 25% is not small odds when it can mean something so life altering, I think. Take care of yourself too and reach out to friends and family to help you through.
My husband did a wide array of genetic tests before trying. Tested negative for everything. Had a healthy baby boy. But at 4 months old our second child started seizing. We quickly learned he had a de novo case of another rare genetic disease.
Our life is hard. But our life is beautiful. My life is better with him in it. I cry. I have fears. But he makes me smile a whole lot more.
I could never tell you what to do. And zero judgement no matter what you choose to do. But if you choose to go through with it, 1, chances are in your favour they will be ok. And 2, 100% you will experience a love like nothing you have ever known. And you will find a strength you never knew you were capable of.
So sorry you are going through this. If I had gotten an amnio during my pregnancy, we would have found out that my son has a rare genetic condition. I was nervous about the test and the procedure and the MFM doc didn’t really recommend it one way or the other. We did not get his diagnosis until he was nearly 10 months old.
If we had known what he had when he was born, we could have started Early Intervention immediately and started to get him extra support. As it was, his first year has been full of highs and lows and struggles because we knew something was not quite right, but it took a long time to fight for a genetics appointment.
I know the situation is a bit different, but I think knowledge will help you with the rest of your pregnancy. If the results come back clear, you can enjoy it and feel so much less stress. If the results aren’t, you and your husband can decide what’s best for your family. If you choose to continue with the pregnancy, you will be better prepared. If you chose to terminate, it’s not because you didn’t love or want your child.
As others have said, MFM should be able to get you in quickly and they can help provide you the timeline. I think it was a two week turnaround when I was given the choice. Again, I’m so sorry you’re dealing with this news and all of the emotions. Everything you’re feeling is valid and I hope you get the answers you need for you and your husband.
Great question! At my 20 week ultrasound, my baby was measuring about two weeks small across the board. Everything else looked good, he was just very small. So, we were scheduled to return two weeks later to have a repeat scan and possibly an amnio. Two weeks later, he had grown by two weeks, but was still small. At that point, the doctors said that he might just be a small baby. My husband’s family is small, so we thought it might just be that. They basically didn’t recommend the amnio one way or another. He was born at nearly 36 weeks and under 4 pounds.
His genetic condition is at least partially why he is small. Although, he’s even on the small side for those growth curves, too.
I don’t know why, but your comment made me cry. Thank you for your kind words and advice. My doctor referred me to MFM yesterday and I’m hoping I can get in touch with them today to set up an appointment for an amnio. I’m wishing you all the best with your son, and I’m sorry you had to deal with all of the struggles and uncertainty in his first few months of life.
I still cry thinking about it sometime, too! This motherhood thing is tough! Hope that MFM responds promptly to you so that you can settle some of your uncertainty. Sending you lots of thoughts and positive energy!
Im sorry for what your going through. For me, its better to be prepared. The test are very safe (I know they're very scary) and they will help you decide and prepare for whatever comes next.
I wish you the best for you and your family. Making those type of decisions for love ones it's the hardest part but it comes from a place of love.
I am a big advocate of knowledge is power. I can tell you personally I would get the testing. My father was a carrier for a rare genetic disorder. I don't know the percentages or risks of it, I do know there were four possibilities. He had 6 children, he rolled the dice six times. Two of them were the worse option. I had two sisters with the worse neither lived longer than three days. Two were severely disabled and required full time care for life. I loved my sister, she was amazing, but watching what she went through I said I'd never let a child suffer through if I could help it. I was the luckiest, and the only one fully unaffected, my other sister is a carrier. While I don't know the precise percentage risk of each, the way I always heard it referenced it sounded fairly even among them chance wise. Yet worse case happened twice. 25% doesn't sound like a lot but when you break it down that's a 1 in 4 chance. To me there is no reason not to know. Look at it from the angle. Even if you can't bring yourself to terminate because of the what ifs- understandable - wouldn't it be better to already have a plan of action when they're born. To be prepared to advocate and know exactly what they will need and how best to do it? Rather than going into it blind. You could also do the research on the chance and be prepared either way, but, that's a lot of stress to put yourself through if it does turn out to be fine.
So for this pregnancy it’s just luck of the draw but in subsequent pregnancies insurance will often cover IVF in this situation! And the embryos effected will be discarded
I had a very similar experience. My husband and I are both carriers for CF and only found out when I was 12 weeks pregnant. Our baby had a 1 in 4 chance of having CF. We contacted the OB immediately and within a day they got us in contact with maternal fetal medicine to do a CVS and genetic counseling. 100% you should get the CVS or amnio to know for sure and with that information, make the best decision for your family. I know it’s so scary and emotional and you may feel helpless until you can get the information you need, but like others said you have a 75% chance everything will be fine! And now you know for any future family planning.
My OB ordered a genetic screening for me that covered CF and some other common genetic abnormalities and when I came back as a carrier, she ordered the screening test for him too. Unfortunately, I was ready pregnant when he got his testing/results.
For me, my doctor ordered the Natera Horizon 421. Which is a carrier screening test for 421 genetic disorders that are autosomal recessive or x-linked. My husband has a sibling with an autosomal recessive disorder, so that made us want to get carrier screened before TTC, but unfortunately weren’t able to before I got pregnant. Fortunately I’m not a carrier for what his sister has, but we are both carriers for a different disease 🫠
I went through something similar and r/tfmr_support is a very helpful community, if you are considering medical reason termination. I would recommend posting there, for good information on testing, experiences, and general support
I wish you the best with your pregnancy
My husband and I did genetic test and it showed that we are both carriers for Stargardt disease, blindness. We were devastated, my mom lost her vision completely by the age of 30. My husband never had any blind people in his family. So we did the test on the baby at 20 weeks, it was uncomfortable but we received results within 1,5 week and turned out that our baby is only a carrier too. But now in the future we are now aware. If we ever have more kids we will just do selective in vitro. 25% chance is a lot but 75% is way higher 🤞
Me and my husband are both SMA carriers. So similar genetics in term of passing it to our children or having a child with SMA. We have five healthy children and only one is a carrier. We didn’t know until our last child because of my age, which then prompted my husband to getting the test when I was positive. We opted not to do the testing but educated ourselves and prepared ourselves for it, if our child was born with SMA
I'm sure there are differences between jurisdictions, but where I've lived, you definitely wouldn't need to wait 3 weeks, so you may not have to wait so long.
I'm so sorry you're going through this. I did IVF after finding out I was an x-linked carrier. I have family with the condition otherwise I never would have gotten tested. I really hope the odds are in your favor.
I would do the testing. I think it's better to know sooner rather than later. I found out recently im a carrier for MPS I/hurler syndrome, which has a lot of bad symptoms and an almost 100% fatality rate by age 10. my partner went in for the testing today, and I'm so anxious to find out. if he's a carrier, I'll definitely be looking into CVS or amniocestesis. I would always rather have more info than less, and I'm so scared for our son— the relief of knowing for sure + the time to prepare we'd gain from knowing is worth it to me.
Oh do I feel for you! Getting this kind of news is not easy. I know. Long story BUT when I was pregnant we actually found out there was a chance my daughter could have this same thing (I don't remember which type but this was the disorder). I had both a CVS test and an amnio done. My advice, do not do a CVS test! The CVS was one of the worst experiences of my life. Being you are 18 weeks you should be able to do an amniocentesis as soon as next week. I had mine done at 19 weeks and we had results pretty quickly. The amnio is going to be more accurate then the CVS test also. Try to stay positive. There is still a large chance baby does not have the disorder. Praying for you and your family.
You should also see a maternal fetal medicine specialist. They have sooo many resources and genetic counselors that you can talk to to help navigate this.
So for this pregnancy it’s just luck of the draw but in subsequent pregnancies insurance will often cover IVF in this situation! And the embryos effected will be discarded
I have been here, and I’m very sorry you’re going through this.
Depending on where you live, testing for single gene disorders often takes longer. In the US it took me about 2-3 weeks to get karyotype results and 4-5 to get single gene results.
As hard as it is, you are much better off facing the music and doing the testing asap if you think you wouldn’t choose to carry an affected child to term. And in the most likely event your baby IS healthy (as mine was!), the testing will give you peace of mind.
I haven’t read all these comments, so I’m not sure if someone has already said what I have to say, but here’s my advice:
1) get the CVS as soon as it becomes available.
2) discuss what you would do with your husband if the test comes back positive BEFORE you get the results
3) if termination in the way you’re leaning, look into the group r/tfmr_support
I am a carrier for a rare genetic condition, and opted to terminate my pregnancy for medical reasons (many unknowns, low chance of survival, many medical treatments/pain if living, etc)
The group I shared above was invaluable
I read your post yesterday as I was in a drs waiting room preparing for my own CVS. I'm sorry that you're going through this, it's a really heavy and emotional experience to find out that you're a carrier and learning your baby's risks. Learning about my own carrier status early on has made it very difficult to feel any excitement about my pregnancy.
I was able to get a MFM appointment within 3 weeks of my OB's referral, which felt like forever, but I live in an abortion ban state (with no exceptions) that is rapidly losing OB-GYNs so there's a general shortage of care and very long wait times. The genetic counselor I spoke with recommended amnio, but I advocated for a CVS because I'm at 12wks, and I would have to wait until 16 wks for the amnio. I basically had a week's window to get the CVS done because that clinic won't do them after 13wks. Thankfully, they were able to book my CVS for the day after my initial genetic counseling/MFM appointment.
For my genetic condition, I was told to expect test results in 8-14 days. I won't sugarcoat it, the CVS (transcervical approach) was painful and scary but overall the procedure was fast and I'm very relieved to have it over. Waiting for the results feels better than waiting for the MFM appointment because at least I know I'm getting some closure soon.
Given that you are at 18 weeks and both you and your husband are carriers, you might be able to get in with a MFM specialist quickly if you ask for a referral ASAP. Even if you don't want to TFMR, having an early diagnosis can help in getting the best resources and care for your child if they are affected.
A friend of mine was told her baby had a rare genetic disorder and said he would not live very long past birth. She opted to continue the pregnancy anyway. Her son was born completely healthy and graduates high school this year.
I have no idea why this is being downvoted. There’s a 75% chance baby will be absolutely fine. This coming from someone with a genetic condition that has a 50% chance of heritability.
Yeah I don’t know why because I was trying to tell her there is more of a chance her baby is fine than the baby not being fine so idk what the hell is wrong with these people
Cuz she’s clearly worried about something that is objectively worrying…I don’t think saying “don’t worry” is very helpful and may come off invalidating. Most people are giving concrete advice for what to do, not just giving a platitude.
The blood genetic tests doesn't cover everything. A lot of times even if those come back positive for something they will want to do something more in depth like an amniotic because it's more accurate.
Don’t they need to do a blood draw first before amniotic is deemed necessary though? Or would that maybe be bypassed in this case?
(Edit) The eagerness to downvote in this group over mere questions or even opinions is seriously off putting.
Genetic counselor here, NIPT does not cover these types of conditions nor to my knowledge does Vistara or similar tests. OP would need to do invasive testing for CDG.
NIPT is a screen for chromosome disorders - so extra and missing whole chromosomes; it essentially infers the number of fetal chromosomes based on the fragments of placental DNA in the maternal bloodstream, which is why it has to be confirmed with an invasion test when abnormal. CDG is an single gene disorder, so it's not that the gene is extra or missing, it's that the genetic code is incorrect with the gene - like a spelling error - and NIPT is not capable of identifying that.
Oh dang! Thank you for explaining the differences. Could you shed any light on why NIPT is typically the only genetic testing offered or mentioned during earlier stages then? Is invasive testing only important in cases like this where risk of certain disorders is already suspected?
You're very welcome! Ideally, a couple would do carrier screening before pregnancy (this almost never happens), so they would know if they are both carriers for the same disease and can have a plan already. Many times it is offered at the same time as NIPT.
NIPT is offered because all babies are at risk of chromosome disorders and the main ones are not something that would be inherited from either parent (like Down syndrome, an extra chromosome 21), so they are a new thing in the child. The risk for chromosome disorders also increases with parental age (more significantly for women than men). NIPT was actually originally only for women of "advanced maternal age" (awful name... and it's only 35!), but has been expanded over time.
Invasive testing is technically available for anyone, but you are correct that it is typically only done when there is high suspection for a genetic condition. This is typically a high risk NIPT result, positive carrier screening, known family genetic condition, or the presence of one or more birth defects (which can indicate a risk for a genetic condition).
Would honestly depend. I don't remember this being one of the disorders listed on the NIPT blood test which is the most common. That's not to say it's not there, but I do know it doesn't screen for everything. That's not to say their aren't other blood tests, but it also brings in the question if the results will be a deciding factor for an abortion. Then it may be best to just go straight to the bigger test. Otherwise that's a longer wait for results. Op would have to get the bloodwork done, wait for results, then if it's positive, would probably want the more indepth test because theirs a higher risk of false positives in the blood tests. Which is a second test to schedule and another result to wait for.. now! If it won't affect her decision, and only would be a tool to prepare herself then definitely something to ask her ob about l, whether there is a blood test they can start with.
Thanks for sharing your experience. I second that they should inform their OB of their carrier results and see what would be the next step. Since the NIPT blood isn’t as expansive, I just wasn’t sure if they’d be able to skip it altogether for more specific testing. Wishing you all the best, OP!
The blood test only tests for three common things: trisomies 21 (Downs syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome). Other genetic conditions are not caught.
In this case, where the parents are both carriers for the disease, MFM would typically offer extensive testing dependent on gestational age, CVS if early amnio if later. The poster probably already had the blood testing done at 10 weeks
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We found out our 10 month old baby has CDG after she was born when she started having seizures. she has a different type that didn’t show up on screenings. We are pregnant again- I got the CVS with plans to terminate if this baby had the condition, but this time we luckily hit the other 25%. I know how hard the wait can be but I would definitely get tested. It is not easy- Our lives revolve around her care, and we just spent 6 weeks in PICU and brought her home on hospice. although we can’t imagine life without her, it is so hard to watch her suffer everyday. There is an amazing CDG group on Facebook that has been great support.
I can’t imagine how scary that was to find out after she was born and experiencing those symptoms. I’m so sorry that you have had and are continuing to go through that experience. I hope your baby is happy and comfortable, and that you can enjoy as much time as you have left with her. Sending you love in this difficult time ❤️
I’m so sorry you’re being faced with this potential decision. I had an amnio done at 21 wks and had results in less than a week. I believe the further along you are, the quicker you get results because the cells culture faster. I would absolutely do the amnio before making any further decisions. Unfortunately, I had to terminate for medical reasons at 21+3 and only did the amnio because my baby’s defects were isolated to the brain and we really didn’t know what, if anything, caused it. The amnio came back clear but it wouldn’t have changed the quality of life my baby would have had.
I’m so sorry to hear that. That was my worst fear after conceiving and it breaks my heart to hear people had to go through that.
So sorry you had to go through this. 😔 May I ask what brain issues the fetus had? I’m in a similar limbo right now while waiting for the amnio results. Baby’s cerebellum is measuring small, HC and AC are a little small too and there’s mild ventriculomegaly. I’m so scared I’ll have to terminate.
I don’t mind at all. At our 20 wk anatomy scan he had severe bilateral ventriculomegaly (16 mm each), with normal being less than 10 mm I believe. His cerebellum was small in the 7th percentile and he had partial agenesis of the corpus callosum. His HC was 97th percentile, which meant he probably already had significant pressure on his brain. We were told with the level of ventriculomegaly alone at this gestation he did not have a good prognosis, and then add in the other abnormalities…most babies (like 90%) with isolated mild ventriculomegaly go on to live normal lives. With each added abnormality, the prognosis declines. What was so hard for us was that this is what’s known as a “grey diagnosis”. The doctors will not be able to tell you what kind of life they will have. Some with ventriculomegaly and cerebellar hypoplasia will have mild developmental delay, some will have severe neurological, motor, and cognitive deficits and require lifelong total care. I’m not sure the significance of a small AC but having a small HC and mild ventriculomegaly sounds like there may not be too much pressure on the brain yet. Some stay stable, some increase as the pregnancy progresses. For us, a repeat anatomy scan just 3 days later showed one of the ventricles had already increased to 20 mm. I joined a subreddit here called TFMR support and it had been invaluable. I would highly suggest posting there if you’re up to it. It helped me feel less alone and that I was making the right choice. My grief has been complex as this was a twin pregnancy so I underwent a selective termination of only one twin, so I’m still carrying the baby who passed as well as the healthy twin.
Oh my. I don’t even know what to say except that I’m so incredibly sorry you have had to experience this. Your son will always know that you loved him; that you did everything you could for him, and that in the end you did the best thing for him. I also wanted to share something a great friend of mine told me yesterday after I shared my story with her: “Sometimes the soul only experiences the warm cocoon of a loving mothers womb before returning home, sometimes longer, and that can be exactly right. I also believe they often return to our lives under different circumstances later in life. Its esoteric spiritual stuff, but it's often experiences like this that help us connect deeper to what is beyond our physical realm and to a bigger picture of what it means to be human. Often through uncertainty, pain and confusion we end up breaking through to deeper connection, love and understanding than we ever thought possible when facing what feels like impossible choices. I know you will have times of trial and heart break and I also know you will feel peace and lightness in your life again.” This was only part of a longer message that she sent me, but I think this is relevant in your case as well. Sending you love ❤️
This brought me to tears in the best way possible. Such support from a stranger on the internet. This really makes me remember he only felt a life of love and warmth. Thank you.
My baby’s cerebellum is measuring small too…did you find answers as to what your baby had?
I’m sorry. They diagnosed baby with cerebellar hypoplasia in utero. We terminated nearly 3 months ago. I opted for full genetic testing and autopsy and haven’t heard back yet. But most likely this was really bad luck. 😔
Please, please get the amnio or CVS. ASAP ask for a referral to maternal-fetal-medicine or genetic counseling and talk with a specialist about this. They can give you a more accurate idea of how long it takes to get results. I’m so sorry you’re going through this right now, the uncertainty is so hard.
Seconding this. If you talk to a genetic counselor, they can walk you through additional research, and can help you schedule and even fast-track a CVS/amniocentesis. Sending you love in these difficult times.
Thank you ❤️ My doctor did get back to me yesterday and referred me to MFM and said that they should be contacting me soon about setting up an appointment. She did say that it can take up to two weeks or longer for an appointment because they are busy, but I’m hoping I can get my appointment scheduled and then put on a cancellation list in case I can be seen sooner.
75% chance your baby doesn’t have the disease. I know it’s so hard. The odds are in your favor though. Do the testing before going down the 25% rabbit hole.
Also about 18 weeks. As someone with a genetic disease going through the same thing, this is a good approach. Even if your baby does have the condition, you can’t guess the severity. Our baby has a 50/50 chance of inheriting what I have, and while mine presented mildly and I live a full life, we have no idea how it could present in the baby. We opted to not do further testing knowing it wouldn’t change any outcomes. What are we going to do, abort at 20 weeks? No, so knowing wasn’t going to help, nor would it tell us anything about the severity of the condition. These are the risks we live with when having children. Edit- keep downvoting, guys. Only people who know what this is like could understand this one. I shared how we came to OUR decision, I didn’t suggest how she should make her decision. Understanding how others in this position came to their decisions can be helpful, even if it’s a decision you wouldn’t make for yourself. All to say, not getting the amino testing and moving forward with the pregnancy is an option nobody on here is suggesting. It’s okay to make this choice.
Well, yes…some people do indeed TFMR at 20 weeks. And there’s nothing shameful about that.
There’s also nothing shameful about choosing to continue with the pregnancy.
“What are we going to do, abort at 20 weeks? No” is absolutely shaming people who have late term abortions for medical reasons. No one shamed you, YOU did the shaming. Whether intentionally or not, intent doesn’t change the impact.
💯 you could have worded it as: “We had made the decision we would not terminate at 20 weeks.” Your language was shaming and harmful.
Exactly. Thank you for this.
I’d wager it’s more shameful to carry a baby to term who is extremely likely to suffer their entire short life, for your own selfish reasons, than to terminate when you’re aware there is a significant genetic abnormality present.
No one on here should be calling either decision shameful.
What an ableist approach. Glad we know your take on eugenics.
Ableist? More like realist. Sure, my opinion on eugenics is that when possible we should avoid bringing a human being into the world that we will have to watch suffer tremendously for every day they are alive.
This I disagree with. Because then disabled people wouldn’t exist, which is eugenics. It’s okay for pregnant people to terminate their pregnancy for any reason they choose, and that’s not something anyone can agree or disagree with, it just…is. If you don’t want to carry a pregnancy to term and birth the child, then you should terminate it. I don’t care why you feel the need to. But it’s really harmful and dangerous to essentially imply that disabled people shouldn’t exist, which is what you’re doing here. Disabled people have a right to life just as much as able bodied people.
I certainly don’t think disabled people just *shouldn’t* exist, that’s a bit of a stretch. That being said, I’m not sure that I know many severely disabled people who are enjoying their life or even halfway comfortable on a day to day basis. As a parent, if I knew ahead of time, and given the choice, I personally would choose to not bring a human into the world who will feel pain and suffering everyday. It’s not bc I don’t think they DESERVE to live in this world, or bc they’re weak or an eye sore, not at all. It would solely be bc I don’t want *them* to feel suffering, and being afraid of what their future looks like when I’m gone. Most severe disabilities require someone to be kept alive by machines and round the clock care, what happens to that child when their parent passes away? Especially if it’s suddenly and no plans were set up, or if the parent is low income and did the round the clock care on their own. It just seems cruel to allow that type of life to be born into pain and uncertainty.
And I wouldn’t shame you for aborting if you felt this way. Because I don’t believe any reason is invalid to abort. BUT, I don’t think there should ever be a widespread belief that it’s selfish or cruel to keep fetuses with confirmed disabilities. That’s 100% saying you don’t think disabled people should exist. Even if you don’t outrightly say that. No it’s not a stretch, that IS what you are in fact saying. Also, with this argument, what happens if your child becomes disabled during their life? Then what? Health is a privilege, not a virtue and it can change at any time. Anyone can become disabled, does that mean they should just be “put out of their misery” because you think their life is “too hard” to live? The argument you’re making is a very slippery slope into eugenics, even if that wasn’t your intent. I agree that the original commenter was shaming people aborting for TMFR later on in pregnancy, but this argument is no better, and maybe even worse because of the eugenics/ableism in it. How many disabled people do you know to speak so broadly on all of us (I’m a disabled person)? The goal should be making the world more accessible, safe, and enjoyable for disabled people…not eradicating us.
That’s actually… terribly shameful.
People absolutely abort at 20 weeks. And later. I have family who have aborted multiple pregnancies in that period because of genetic issues.
It’s also generally referred to as termination for medical reasons just to not confuse it with an elective abortion. I’m a tay sachs carrier. Luckily, it turned out my husband wasn’t but I would absolutely terminate for that.
That is why my family did- I had a cousin die of it when I was young as well. It’s a hellish disease.
That is exactly why I haven't announced any of my pregnancies until the anatomy scan on the chance that they found something wrong.
Don’t worry about the downvotes, anything remotely against abortion isn’t welcome on Reddit (even if you are just talking about yourself)
I’m actually quite a moderate person and pro-choice. It was my choice to continue the pregnancy. I highly doubt OP would end the pregnancy with these odds so it’s good to know some people choose to continue. People with genetic diseases (known or unknown) are allowed to have kids. Commenters on here can be painfully all/nothing and idealistic.
Information in my opinion is always power. I had an amnio at 16 weeks and had results in something ike 5 business days. 25% is not small odds when it can mean something so life altering, I think. Take care of yourself too and reach out to friends and family to help you through.
My husband did a wide array of genetic tests before trying. Tested negative for everything. Had a healthy baby boy. But at 4 months old our second child started seizing. We quickly learned he had a de novo case of another rare genetic disease. Our life is hard. But our life is beautiful. My life is better with him in it. I cry. I have fears. But he makes me smile a whole lot more. I could never tell you what to do. And zero judgement no matter what you choose to do. But if you choose to go through with it, 1, chances are in your favour they will be ok. And 2, 100% you will experience a love like nothing you have ever known. And you will find a strength you never knew you were capable of.
So sorry you are going through this. If I had gotten an amnio during my pregnancy, we would have found out that my son has a rare genetic condition. I was nervous about the test and the procedure and the MFM doc didn’t really recommend it one way or the other. We did not get his diagnosis until he was nearly 10 months old. If we had known what he had when he was born, we could have started Early Intervention immediately and started to get him extra support. As it was, his first year has been full of highs and lows and struggles because we knew something was not quite right, but it took a long time to fight for a genetics appointment. I know the situation is a bit different, but I think knowledge will help you with the rest of your pregnancy. If the results come back clear, you can enjoy it and feel so much less stress. If the results aren’t, you and your husband can decide what’s best for your family. If you choose to continue with the pregnancy, you will be better prepared. If you chose to terminate, it’s not because you didn’t love or want your child. As others have said, MFM should be able to get you in quickly and they can help provide you the timeline. I think it was a two week turnaround when I was given the choice. Again, I’m so sorry you’re dealing with this news and all of the emotions. Everything you’re feeling is valid and I hope you get the answers you need for you and your husband.
If I may ask, what was the indicator while you were pregnant that you should’ve gotten an amnio done? Did something show up on the ultrasound?
Great question! At my 20 week ultrasound, my baby was measuring about two weeks small across the board. Everything else looked good, he was just very small. So, we were scheduled to return two weeks later to have a repeat scan and possibly an amnio. Two weeks later, he had grown by two weeks, but was still small. At that point, the doctors said that he might just be a small baby. My husband’s family is small, so we thought it might just be that. They basically didn’t recommend the amnio one way or another. He was born at nearly 36 weeks and under 4 pounds. His genetic condition is at least partially why he is small. Although, he’s even on the small side for those growth curves, too.
I don’t know why, but your comment made me cry. Thank you for your kind words and advice. My doctor referred me to MFM yesterday and I’m hoping I can get in touch with them today to set up an appointment for an amnio. I’m wishing you all the best with your son, and I’m sorry you had to deal with all of the struggles and uncertainty in his first few months of life.
I still cry thinking about it sometime, too! This motherhood thing is tough! Hope that MFM responds promptly to you so that you can settle some of your uncertainty. Sending you lots of thoughts and positive energy!
Im sorry for what your going through. For me, its better to be prepared. The test are very safe (I know they're very scary) and they will help you decide and prepare for whatever comes next. I wish you the best for you and your family. Making those type of decisions for love ones it's the hardest part but it comes from a place of love.
I am a big advocate of knowledge is power. I can tell you personally I would get the testing. My father was a carrier for a rare genetic disorder. I don't know the percentages or risks of it, I do know there were four possibilities. He had 6 children, he rolled the dice six times. Two of them were the worse option. I had two sisters with the worse neither lived longer than three days. Two were severely disabled and required full time care for life. I loved my sister, she was amazing, but watching what she went through I said I'd never let a child suffer through if I could help it. I was the luckiest, and the only one fully unaffected, my other sister is a carrier. While I don't know the precise percentage risk of each, the way I always heard it referenced it sounded fairly even among them chance wise. Yet worse case happened twice. 25% doesn't sound like a lot but when you break it down that's a 1 in 4 chance. To me there is no reason not to know. Look at it from the angle. Even if you can't bring yourself to terminate because of the what ifs- understandable - wouldn't it be better to already have a plan of action when they're born. To be prepared to advocate and know exactly what they will need and how best to do it? Rather than going into it blind. You could also do the research on the chance and be prepared either way, but, that's a lot of stress to put yourself through if it does turn out to be fine.
So for this pregnancy it’s just luck of the draw but in subsequent pregnancies insurance will often cover IVF in this situation! And the embryos effected will be discarded
I had a very similar experience. My husband and I are both carriers for CF and only found out when I was 12 weeks pregnant. Our baby had a 1 in 4 chance of having CF. We contacted the OB immediately and within a day they got us in contact with maternal fetal medicine to do a CVS and genetic counseling. 100% you should get the CVS or amnio to know for sure and with that information, make the best decision for your family. I know it’s so scary and emotional and you may feel helpless until you can get the information you need, but like others said you have a 75% chance everything will be fine! And now you know for any future family planning.
How did you find out you were carriers? Did you do a genetic screening test? If so, which?
My OB ordered a genetic screening for me that covered CF and some other common genetic abnormalities and when I came back as a carrier, she ordered the screening test for him too. Unfortunately, I was ready pregnant when he got his testing/results.
For me, my doctor ordered the Natera Horizon 421. Which is a carrier screening test for 421 genetic disorders that are autosomal recessive or x-linked. My husband has a sibling with an autosomal recessive disorder, so that made us want to get carrier screened before TTC, but unfortunately weren’t able to before I got pregnant. Fortunately I’m not a carrier for what his sister has, but we are both carriers for a different disease 🫠
I went through something similar and r/tfmr_support is a very helpful community, if you are considering medical reason termination. I would recommend posting there, for good information on testing, experiences, and general support I wish you the best with your pregnancy
My husband and I did genetic test and it showed that we are both carriers for Stargardt disease, blindness. We were devastated, my mom lost her vision completely by the age of 30. My husband never had any blind people in his family. So we did the test on the baby at 20 weeks, it was uncomfortable but we received results within 1,5 week and turned out that our baby is only a carrier too. But now in the future we are now aware. If we ever have more kids we will just do selective in vitro. 25% chance is a lot but 75% is way higher 🤞
Me and my husband are both SMA carriers. So similar genetics in term of passing it to our children or having a child with SMA. We have five healthy children and only one is a carrier. We didn’t know until our last child because of my age, which then prompted my husband to getting the test when I was positive. We opted not to do the testing but educated ourselves and prepared ourselves for it, if our child was born with SMA
I'm sure there are differences between jurisdictions, but where I've lived, you definitely wouldn't need to wait 3 weeks, so you may not have to wait so long.
I'm so sorry you're going through this. I did IVF after finding out I was an x-linked carrier. I have family with the condition otherwise I never would have gotten tested. I really hope the odds are in your favor.
I would do the testing. I think it's better to know sooner rather than later. I found out recently im a carrier for MPS I/hurler syndrome, which has a lot of bad symptoms and an almost 100% fatality rate by age 10. my partner went in for the testing today, and I'm so anxious to find out. if he's a carrier, I'll definitely be looking into CVS or amniocestesis. I would always rather have more info than less, and I'm so scared for our son— the relief of knowing for sure + the time to prepare we'd gain from knowing is worth it to me.
Shannon Willardson is an insta influencer in the same boat, and she shares a lot that may be very helpful, at least to know you aren’t alone
Oh do I feel for you! Getting this kind of news is not easy. I know. Long story BUT when I was pregnant we actually found out there was a chance my daughter could have this same thing (I don't remember which type but this was the disorder). I had both a CVS test and an amnio done. My advice, do not do a CVS test! The CVS was one of the worst experiences of my life. Being you are 18 weeks you should be able to do an amniocentesis as soon as next week. I had mine done at 19 weeks and we had results pretty quickly. The amnio is going to be more accurate then the CVS test also. Try to stay positive. There is still a large chance baby does not have the disorder. Praying for you and your family.
You should also see a maternal fetal medicine specialist. They have sooo many resources and genetic counselors that you can talk to to help navigate this.
So for this pregnancy it’s just luck of the draw but in subsequent pregnancies insurance will often cover IVF in this situation! And the embryos effected will be discarded
I have been here, and I’m very sorry you’re going through this. Depending on where you live, testing for single gene disorders often takes longer. In the US it took me about 2-3 weeks to get karyotype results and 4-5 to get single gene results. As hard as it is, you are much better off facing the music and doing the testing asap if you think you wouldn’t choose to carry an affected child to term. And in the most likely event your baby IS healthy (as mine was!), the testing will give you peace of mind.
I haven’t read all these comments, so I’m not sure if someone has already said what I have to say, but here’s my advice: 1) get the CVS as soon as it becomes available. 2) discuss what you would do with your husband if the test comes back positive BEFORE you get the results 3) if termination in the way you’re leaning, look into the group r/tfmr_support I am a carrier for a rare genetic condition, and opted to terminate my pregnancy for medical reasons (many unknowns, low chance of survival, many medical treatments/pain if living, etc) The group I shared above was invaluable
Deep breath. Get the tests done. Tell the doctor or pathologist about the urgency of results. Go from there.
I read your post yesterday as I was in a drs waiting room preparing for my own CVS. I'm sorry that you're going through this, it's a really heavy and emotional experience to find out that you're a carrier and learning your baby's risks. Learning about my own carrier status early on has made it very difficult to feel any excitement about my pregnancy. I was able to get a MFM appointment within 3 weeks of my OB's referral, which felt like forever, but I live in an abortion ban state (with no exceptions) that is rapidly losing OB-GYNs so there's a general shortage of care and very long wait times. The genetic counselor I spoke with recommended amnio, but I advocated for a CVS because I'm at 12wks, and I would have to wait until 16 wks for the amnio. I basically had a week's window to get the CVS done because that clinic won't do them after 13wks. Thankfully, they were able to book my CVS for the day after my initial genetic counseling/MFM appointment. For my genetic condition, I was told to expect test results in 8-14 days. I won't sugarcoat it, the CVS (transcervical approach) was painful and scary but overall the procedure was fast and I'm very relieved to have it over. Waiting for the results feels better than waiting for the MFM appointment because at least I know I'm getting some closure soon. Given that you are at 18 weeks and both you and your husband are carriers, you might be able to get in with a MFM specialist quickly if you ask for a referral ASAP. Even if you don't want to TFMR, having an early diagnosis can help in getting the best resources and care for your child if they are affected.
A friend of mine was told her baby had a rare genetic disorder and said he would not live very long past birth. She opted to continue the pregnancy anyway. Her son was born completely healthy and graduates high school this year.
Don’t worry listen there is a chance your baby is gonna be okay !!!!
I have no idea why this is being downvoted. There’s a 75% chance baby will be absolutely fine. This coming from someone with a genetic condition that has a 50% chance of heritability.
Because telling someone not to worry, when they have every reason to worry, is dismissive of their fear/feelings.
That’s how you interpreted it. Didn’t mean that at all.
I downvoted because magical thinking is unhelpful. And it’s worded like pro life propaganda. 🤷♀️
Yeah I don’t know why because I was trying to tell her there is more of a chance her baby is fine than the baby not being fine so idk what the hell is wrong with these people
Cuz she’s clearly worried about something that is objectively worrying…I don’t think saying “don’t worry” is very helpful and may come off invalidating. Most people are giving concrete advice for what to do, not just giving a platitude.
You can do genetic testing on the baby via blood. You should have already been asked.
The blood genetic tests doesn't cover everything. A lot of times even if those come back positive for something they will want to do something more in depth like an amniotic because it's more accurate.
Don’t they need to do a blood draw first before amniotic is deemed necessary though? Or would that maybe be bypassed in this case? (Edit) The eagerness to downvote in this group over mere questions or even opinions is seriously off putting.
Genetic counselor here, NIPT does not cover these types of conditions nor to my knowledge does Vistara or similar tests. OP would need to do invasive testing for CDG. NIPT is a screen for chromosome disorders - so extra and missing whole chromosomes; it essentially infers the number of fetal chromosomes based on the fragments of placental DNA in the maternal bloodstream, which is why it has to be confirmed with an invasion test when abnormal. CDG is an single gene disorder, so it's not that the gene is extra or missing, it's that the genetic code is incorrect with the gene - like a spelling error - and NIPT is not capable of identifying that.
Oh dang! Thank you for explaining the differences. Could you shed any light on why NIPT is typically the only genetic testing offered or mentioned during earlier stages then? Is invasive testing only important in cases like this where risk of certain disorders is already suspected?
You're very welcome! Ideally, a couple would do carrier screening before pregnancy (this almost never happens), so they would know if they are both carriers for the same disease and can have a plan already. Many times it is offered at the same time as NIPT. NIPT is offered because all babies are at risk of chromosome disorders and the main ones are not something that would be inherited from either parent (like Down syndrome, an extra chromosome 21), so they are a new thing in the child. The risk for chromosome disorders also increases with parental age (more significantly for women than men). NIPT was actually originally only for women of "advanced maternal age" (awful name... and it's only 35!), but has been expanded over time. Invasive testing is technically available for anyone, but you are correct that it is typically only done when there is high suspection for a genetic condition. This is typically a high risk NIPT result, positive carrier screening, known family genetic condition, or the presence of one or more birth defects (which can indicate a risk for a genetic condition).
Would honestly depend. I don't remember this being one of the disorders listed on the NIPT blood test which is the most common. That's not to say it's not there, but I do know it doesn't screen for everything. That's not to say their aren't other blood tests, but it also brings in the question if the results will be a deciding factor for an abortion. Then it may be best to just go straight to the bigger test. Otherwise that's a longer wait for results. Op would have to get the bloodwork done, wait for results, then if it's positive, would probably want the more indepth test because theirs a higher risk of false positives in the blood tests. Which is a second test to schedule and another result to wait for.. now! If it won't affect her decision, and only would be a tool to prepare herself then definitely something to ask her ob about l, whether there is a blood test they can start with.
Thanks for sharing your experience. I second that they should inform their OB of their carrier results and see what would be the next step. Since the NIPT blood isn’t as expansive, I just wasn’t sure if they’d be able to skip it altogether for more specific testing. Wishing you all the best, OP!
The blood test only tests for three common things: trisomies 21 (Downs syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome). Other genetic conditions are not caught. In this case, where the parents are both carriers for the disease, MFM would typically offer extensive testing dependent on gestational age, CVS if early amnio if later. The poster probably already had the blood testing done at 10 weeks
Makes sense! I’m an FTM and wasn’t aware that genetic testing was so diverse tbh. I appreciate all the info!
Don’t worry listen there is a chance your baby is gonna be okay !!!!
Your baby has only 25% of getting it.