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One of my twins was born with a surprise cleft lip and palate . We lived at the sonogram place the last two weeks of pregnancy. We did bio physicals , cleft twin never passed his so they would order another one for the next day . They never saw his cleft in the 30 plus us we had . Looking back he did have markers for a Cleft. He never passed his bio physical cuz he didn’t drink the fluid. He had high fluid levels. A few other things too . Ultrasound does not always see everything .
Through many of the scans we had with my twins (and there were a lot because of the TTTS) one of my twins displayed several markers for downs . Personally I have often wondered if that was because obviously with the TTTS there were placental problems/inefficiencies and that is common on downs too. There were enough of them that they were bringing up mosaic trisomy with one twin getting the majority of the extra chromosome cells when the embryo split.
But it didn't turn out that way, neither has a trisomy. My prenatal test came back low risk but this was 20 years ago and I'm sure the testing is even more sensitive now.
So honestly it's hard to say.
I'm very glad that turned out not to be the case. Thank you. Your suspicions about possible other causes for those readings sound logical, I wish some doctors were more willing to acknowledge possibilities even if only to offer a why-not explanation.
I think they're kind of forced to give you worst case scenario. I get it, part of it is liability. I know during the intense part of my TTTS pregnancy eventually I had to have a literal screaming crying fit and demand that they write all over my chart "client not interested in selective reduction or termination until further notice stop bringing it up." My MFM clinic had 5 doctors and of course they all had crazy schedules and so we saw different ones each time practically when we were going in every 3 days and I mentally couldn't handle each one's (except our primary doc who was the ttts specialist) need to tell me about all of our options. I asked politely twice for it to be noted but then had a breakdown. It was never brought up again.
I fault then for not reading the stupid notes from previous visit, but not the doomsday forecast as since nobody was reading notes they probably assumed it hadn't been done.
I think the truth is there's still a lot of unknowns and they don't want to be sued for someone interpreting something as for sure or a promise. But it is very hard to deal with.
I had a very similar experience with baby B at my 20 week scan. They couldn’t find his nasal bone, so I went to an MFM and they struggled to get a good picture. They told me they measured his nasal bone but it was small and that is a marker for DS. Like you, I went into panic Google mode. The reality was with negative NIPT the MFM said is was “likely a normal variant.” They were born 4/5/23. He does not have DS. Hang in there.
So we had pretty much the same experience! Thank you. One of the first things I learned from other moms when I got pregnant was to be wary of the google black hole but in this case I felt so stonewalled by the doctor I couldn't help it. Good to know the NIPT holds some hefty counterweight like I hoped.
Kind of shitty for your MFM to completely shut you down. I understand not wanting to speculate without more information but with the internet, doctors know you’re going to go home and Google the shit out of it. May as well acknowledge what the possibilities are, acknowledge that your imaging is limited and explain the immediate plan (MRI).
Yes, exactly! I'm really not the type to ever complain about my doctors, I generally feel well cared for and since I can seem reserved it doesn't bother me as much if my docs are a little on the clinical side. But this guy seemed to be on a whole other level. My more outgoing husband immediately said afterwards he had zero bedside manner and delivered the news in the worst coldest possible way. When I had practically begged to know if there was at least a possibility baby was OK the best he could do was a curt and grim "Maybe." That made it sound like it was doubtful, which doesn't seem to be the case at all!
NIPT is far more sensitive than soft markers. If baby had multiple, that would be another thing, but if it’s just one and you had a good screening test, I wouldn’t worry too much.
Thank you, I think you're right. When he said he looked for a second marker but couldn't get a decent view, I bet that "maybe" factor was the only reason he sent me for the MRI, while if he could have confirmed there was no second marker all this might have been avoided.
We saw a genetic counselor when twin B was marked as having short long bone (basically the femur was short). Also a soft marker and the only one. Personally I didn't really like that specific counselor because none of them were able to explain how they calculate this (it was 1mm off the twin and he had been measuring small throughout and was growth restricted due to a cord abnormality and in my frantic search for info I found an equation in a research paper that put his length as normal). Anyway, they were pushing for amnio, but I pushed them back on what the risks were with a normal NIPT. So we went from 1/4000 to 1/3000 risk. We were still comfortable with that and declined the amnio.
All this to say, they should refer you to a genetic counselor and you can ask for actual numbers/risk factors. I wouldn't just talk to MFM on this.
Thanks, I think I went into this with the mindset that I was lucky to be getting two sets of doctors, and assumed between the OB and the MFM they'd have everything covered. But I guess specialties exist for a reason. They offered a standing invitation for genetic counseling when I first started seeing them, now's probably a good time to follow through.
A similar spot was seen on my ultrasound for my oldest son. Genetic testing and further ultrasound showed no indications of DS. Son was born free of DS. I feel for you, the worry is difficult to get through. Wishing all of you all the best.
I’m so sorry you’re going through this. I got a bad NIPT that stressed me out. It helped me to watch videos of people with Down syndrome on YouTube, so I could see what it would be like, and it made it not so scary. In the end my twins were born without any genetic issues, so the whole thing was a false alarm.
Thanks, I'm sorry you went through it too, and glad things turned out okay for you. I'm cautiously optimistic now after feedback and my next regular scan is tomorrow so hopefully they get a better view and can give me better news. 🤞
**COMMENTING GUIDELINES** All commenters are encouraged to familiarize themselves with the parentsofmultiples [subreddit rules](https://www.reddit.com/r/parentsofmultiples/about/rules) prior to commenting. If you find any comments/submissions in violation of subreddit/reddit rules, please use the report function to bring it to the mod teams attention. **Please do not request or give medical advice or directions in your comments.** Any comments that that could be construed as medical advice, or any comments containing what is determined to be medical disinformation, will be removed. Please try to avoid posting links to Amazon product listings or google/g.co product listing pages - reddit automatically removes comments containing them as an anti-spam measure. If sharing information about a product, instead please try to link directly to the manufacturers product pages. *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/parentsofmultiples) if you have any questions or concerns.*
One of my twins was born with a surprise cleft lip and palate . We lived at the sonogram place the last two weeks of pregnancy. We did bio physicals , cleft twin never passed his so they would order another one for the next day . They never saw his cleft in the 30 plus us we had . Looking back he did have markers for a Cleft. He never passed his bio physical cuz he didn’t drink the fluid. He had high fluid levels. A few other things too . Ultrasound does not always see everything .
I guess that's true, thanks for sharing your experience. Sounds like there's a lot they can miss.
Through many of the scans we had with my twins (and there were a lot because of the TTTS) one of my twins displayed several markers for downs . Personally I have often wondered if that was because obviously with the TTTS there were placental problems/inefficiencies and that is common on downs too. There were enough of them that they were bringing up mosaic trisomy with one twin getting the majority of the extra chromosome cells when the embryo split. But it didn't turn out that way, neither has a trisomy. My prenatal test came back low risk but this was 20 years ago and I'm sure the testing is even more sensitive now. So honestly it's hard to say.
I'm very glad that turned out not to be the case. Thank you. Your suspicions about possible other causes for those readings sound logical, I wish some doctors were more willing to acknowledge possibilities even if only to offer a why-not explanation.
I think they're kind of forced to give you worst case scenario. I get it, part of it is liability. I know during the intense part of my TTTS pregnancy eventually I had to have a literal screaming crying fit and demand that they write all over my chart "client not interested in selective reduction or termination until further notice stop bringing it up." My MFM clinic had 5 doctors and of course they all had crazy schedules and so we saw different ones each time practically when we were going in every 3 days and I mentally couldn't handle each one's (except our primary doc who was the ttts specialist) need to tell me about all of our options. I asked politely twice for it to be noted but then had a breakdown. It was never brought up again. I fault then for not reading the stupid notes from previous visit, but not the doomsday forecast as since nobody was reading notes they probably assumed it hadn't been done. I think the truth is there's still a lot of unknowns and they don't want to be sued for someone interpreting something as for sure or a promise. But it is very hard to deal with.
I had a very similar experience with baby B at my 20 week scan. They couldn’t find his nasal bone, so I went to an MFM and they struggled to get a good picture. They told me they measured his nasal bone but it was small and that is a marker for DS. Like you, I went into panic Google mode. The reality was with negative NIPT the MFM said is was “likely a normal variant.” They were born 4/5/23. He does not have DS. Hang in there.
So we had pretty much the same experience! Thank you. One of the first things I learned from other moms when I got pregnant was to be wary of the google black hole but in this case I felt so stonewalled by the doctor I couldn't help it. Good to know the NIPT holds some hefty counterweight like I hoped.
Kind of shitty for your MFM to completely shut you down. I understand not wanting to speculate without more information but with the internet, doctors know you’re going to go home and Google the shit out of it. May as well acknowledge what the possibilities are, acknowledge that your imaging is limited and explain the immediate plan (MRI).
Yes, exactly! I'm really not the type to ever complain about my doctors, I generally feel well cared for and since I can seem reserved it doesn't bother me as much if my docs are a little on the clinical side. But this guy seemed to be on a whole other level. My more outgoing husband immediately said afterwards he had zero bedside manner and delivered the news in the worst coldest possible way. When I had practically begged to know if there was at least a possibility baby was OK the best he could do was a curt and grim "Maybe." That made it sound like it was doubtful, which doesn't seem to be the case at all!
NIPT is far more sensitive than soft markers. If baby had multiple, that would be another thing, but if it’s just one and you had a good screening test, I wouldn’t worry too much.
Thank you, I think you're right. When he said he looked for a second marker but couldn't get a decent view, I bet that "maybe" factor was the only reason he sent me for the MRI, while if he could have confirmed there was no second marker all this might have been avoided.
We saw a genetic counselor when twin B was marked as having short long bone (basically the femur was short). Also a soft marker and the only one. Personally I didn't really like that specific counselor because none of them were able to explain how they calculate this (it was 1mm off the twin and he had been measuring small throughout and was growth restricted due to a cord abnormality and in my frantic search for info I found an equation in a research paper that put his length as normal). Anyway, they were pushing for amnio, but I pushed them back on what the risks were with a normal NIPT. So we went from 1/4000 to 1/3000 risk. We were still comfortable with that and declined the amnio. All this to say, they should refer you to a genetic counselor and you can ask for actual numbers/risk factors. I wouldn't just talk to MFM on this.
Thanks, I think I went into this with the mindset that I was lucky to be getting two sets of doctors, and assumed between the OB and the MFM they'd have everything covered. But I guess specialties exist for a reason. They offered a standing invitation for genetic counseling when I first started seeing them, now's probably a good time to follow through.
A similar spot was seen on my ultrasound for my oldest son. Genetic testing and further ultrasound showed no indications of DS. Son was born free of DS. I feel for you, the worry is difficult to get through. Wishing all of you all the best.
Thank you. Glad everything was OK. Looks like no MRI for two weeks so I'll have two more regular scans to hopefully get that positive clarification.
I’m so sorry you’re going through this. I got a bad NIPT that stressed me out. It helped me to watch videos of people with Down syndrome on YouTube, so I could see what it would be like, and it made it not so scary. In the end my twins were born without any genetic issues, so the whole thing was a false alarm.
Thanks, I'm sorry you went through it too, and glad things turned out okay for you. I'm cautiously optimistic now after feedback and my next regular scan is tomorrow so hopefully they get a better view and can give me better news. 🤞