I had my amnio yesterday and everything went fine. The baby looked really good and the only thing they saw was an increase in size of the baby's kidneys. Of course I looked it up as soon as I got home last night and scared myself silly. I was a wreck all day. I just got a call from my OB saying the FSH results show that baby has the appropriate amount of chromosomes and everything looks great. Of course this is only 90% conclusive but I think we are good that this point. I am feeling so relieved.
Just a recap of my ordeal, I just turned 40 and this is my second baby, I went in for NIPT testing at 10 weeks with low fetal DNA being observed, after second NIPT testing at 11 weeks, the same result of low fetal DNA came back, we moved our NT scan up and everything with the NT scan looked great with nasal bone present and neck thickness at a normal range. They combined that with a blood test and my risk for downs syndrome came back positive with a 1 and 82 chance. We had to move to either an amnio or CVS test. I felt the the CVS test carried too much risk so opted for the amnio which also has a high risk but much better than the CVS. So here we are, finally done with the amnio and preliminary results show that the baby is fine. I am relieved, I have been so scared and have not even told my boss I am expecting yet. We haven't even told my 3 year old yet and have not done any announcements for fear something may happen.
@MalonT23 I’m so happy for you. What a major relieve! TW when I was pregnant with my triploidy baby, my NIPT also came back low fetal reaction twice. The NT scan showed a lot of serious issues and the CVS showed triploidy. End TW
@jkduer fingers crossed for low risk NIPT results for you!
@MalonT23 so glad you had good results! Was the amnio painful? I’m hoping to avoid one but won’t know what course of action is best til I get my NIPT results next week.
As for my genetic counseling appointment I feel a lot better today than I did prior, but still a little scared which I’m sure is normal. Our risk based on the serum test is 1:44 for T18 but that doesn’t account for the fact we did PGS testing prior to implanting which obviously showed the baby had the correct # of chromosomes. She said our true risk is likely much much lower, especially as false negatives for PGS are less than 1%. Because of the 1:44 risk that means about 97.7% of people in my “results bracket” for the serum test are false positives. Of course I’ve been on the wrong side of statistics before (ivf, sch, a slew of other concerns) so I’m not completely relieved but also not as doom and gloom as I felt prior. Really hoping the holidays make the next week go quicker.
@jkduer The amnio is just a little bit painful, with a kind of a bad cramp but it is very quick. I don't look at what they are doing and just try and focus on a point on the wall and kind of hold my breath. I feel relieved that there are two doctors in the room. My own OB and the Doctor of radiology along with an ultra sound tech so the room is packed with a lot of experience. Hopefully this is a journey you do not have to go on. I can't imagine going through all of the preimplantation prep and still having to go through this. I truly hope this is something that gets resolved soon for you.
@MalonT23 hydronephrosis "swollen kidneys" detected in my son's last ultrasound. He's 3 now and had no issues. We just have to go in for monitoring once a year. So, I hope you aren't too worried about that result.
I got my NIPT (Maternit21) test back and I am low risk!!! That combined with PGS has me feeling very secure. I don’t think I’ll be doing the state screen (Papp-a & hcg) if we are lucky enough to have more babies in the future because the last week has been absolutely terrible.
Thank God we got the test results back and everything came back low risk! I am stopping tonight to get an envelope to find out the sex with my husband tonight. I can't wait!
Late to the game (had to wait until I was at least 13 weeks along to get my Harmony screening apparently) - but my results are in and they're all negative! Woot!
When I asked about the sex the nurse was like "The sex genes are irrelevant because you're having twins." Great. Thanks. I realize if there's Y present in my blood that could mean one OR two boys but c'mon, if there's not any Y then it's 2 girls! SOME information is better than none :P Whatever, I'm seeing my OB on Friday anyway so I can just ask for the details then. Sheesh, some people. You'd think dealing with pregnant women all the time they'd realize we're a neurotic bunch and will happily (and gratefully) accept any information given.
@wishiwaspreggo oh that's kind of weird. You'd think they'd tell you. Now I wonder if the nurse saw the results or not. It's only irrelevant (kind of, but still not really) if there was a Y but who knows if she looked at it.
@wishiwaspreggo and @kvh22 I’m thinking they don’t even list the prescience of x or Y chromosome on the paper the nurse looks at because it’s twins. What I don’t get is how they can know both babies are low risk through fetal DNA, but not know the sex. They have to be able to identify the separate fetal DNA, right? Because your babies are fraternal- they have different DNA. So if they locate the DNA to test for abnormalities, wouldn’t they be able to tell them separately? It’s so confusing to me. Or do they just test for the various trisomnies in the blood and not actually locate the DNA.
Either way, you should be coming in your anatomy scan/Level II soon, right? Or do you have yo wait until 20 weeks even though you are pregnant with twins?
@chloe97 I'm pretty sure that with the harmony test, they're not actually sequencing the DNA but rather are looking for the proportion of certain chromosomes present (not distinguishing between mom and baby). For example, since there are three main chromosomes that tend to have a trisomy disorder, they look to see if the total number of all those particular chromosomes seem to be in line with the non - trisomy chromosomes. If there is a chance the baby has a trisome, then there would be more of that chromosome in proportion to all the others where there are only two sets. That's why the NIPT tests are considered a screening test (is there a very high likelihood of a trisome, like 99% confidence), not a diagnostic test (yes the baby has a trisome for sure or no the baby does not) like CVS or amnio, where the actual baby DNA is sequenced.
@wishiwaspreggo so annoying! When I had my screening last time I only talked to my doctors office and not directly to the company they used, but they told me right away that I was having (at least) one boy. Incomplete information is still information!
@knarlytaurus that’s my (high school science-level) understanding of how it works. That’s how they’re able to screen for the major trisomies, because obviously the mom doesn’t have them, right?
Yes, my understanding is, since it's just a screening, they don't identify which twin would have an anomaly but whether or not either has an anomaly. If there was a high likelihood of a trisomy disorder I would have to undergo more invasive testing to see which baby was in jeopardy. Having twins it would've been horrible to know one would make it and the other would not and have to make the choice to terminate the ill baby so the other has a better chance to survive. I am so, so grateful they're both healthy.
But dammit... I wanna know if I'm having b/g, g/g, or b/b twins I'm having another ultrasound tomorrow. I'll be 16 weeks on Saturday. I am HOPING they'll be able to see something in there that would indicate their sex. I'm going to my family's holiday Christmas party and I wanted to do something cute to reveal the sexes (if it's possible). My parents are bugging the crap out of me because they want to post a Facebook announcement but we're *so* close to knowing the sex that I just want to hold off a little longer until I get some finalized answers. But I feel better knowing they're healthy at the very least.
Not sure if this goes here but i posted in symptoms but feel like it doesn’t belong there
So they found bright spots on the baby’s heart. Echogenic focus? I’m waiting to speak with doctor but the freaking radiology office released the results with “echogenic foci observed: genetic counseling recommended”
so i havent slept and have been a wreck all night. Has anyone experienced this? I’ve had negative NIPT/Maternal Serum/Quad etc but I’m still a disaster right now and need to be talked off a ledge.
@journey721 I responded in the other thread, but try not to worry. Just because a baby has a bright spot does not mean anything definitive. It *could* be an indicator of downs, but it doesn't mean it is for sure.
@journey721 - I've known several women who have found soft markers of DS on ultrasounds and everything was fine. If your tests came back negative it's probably a fluke.
And FWIW - not to insult any radiologists here - but when I went to the ER for my subchorionic hemorrhage bleed the doctor I saw was a radiologist by training and his ultrasound tech was trained in radiology as well. The doctor told me "You may or may not miscarry in the next 2 weeks. Time will tell." And the tech made a note that Baby B had "abnormalities" that I'd need to have investigated. WTF?! I panicked and saw my OB and she said radiologists are not the best with obstetrics so take what they say with a grain of salt. They apparently use the equipment for different purposes so they don't always know what they're looking for. But anyway, Baby B is completely normal and I was assured many times that I would not miscarry and not to worry unless I had severe cramping and bleeding.
@eatinwatermelonseeds funny you say that. She said the report looked like a kindergartner wrote it and wants me to see the MFM to make sure it even there. She said she’s not as concerned about t21 as she is about a potential heart issue. She said the test i had done was the most accurate in the market so that helped my brain a bit.
Not sure if this goes here but i posted in symptoms but feel like it doesn’t belong there
So they found bright spots on the baby’s heart. Echogenic focus? I’m waiting to speak with doctor but the freaking radiology office released the results with “echogenic foci observed: genetic counseling recommended”
so i havent slept and have been a wreck all night. Has anyone experienced this? I’ve had negative NIPT/Maternal Serum/Quad etc but I’m still a disaster right now and need to be talked off a ledge.
Try to stay positive until you speak with your dr. With all the other tests being negative, it could be something else and many heart things can resolve before birth or they fix themselves just after birth. Sorry you have to go through the stress
@eatinwatermelonseeds i just saw it! So far, all of those with negative NIPT and bright spots have had healthy babies from what I’ve read or anecdotal like your friend
I'm a little late to post but earlier this month I got back my NIPT results which were clear. But then I had to wait for my nail biter - genetic testing results for spinal muscular atrophy and hereditary hemocromotosis.
My husband has SMA in his family and they are known carriers. My results came back saying I'm a 1/800 chance to be a carrier. So a very low chance but they couldn't rule it out altogether. However, the Dr felt this was low enough not to test further so that was a big relief! That was the one I was most worried about.
I was identified as being a positive carrier for HH which runs in my family. So when the little one is born he or she will also be tested for HH. For a child to have HH, both parents must be carriers. Because HH is not uncommon for those with French Canadian ethnicity and DH and I both have that, there is the possibility that DH is a carrier too. Thankfully it is treatable and I'm not too worried. Just thankful to have the heads up!
Re: Genetic Testing
Just a recap of my ordeal, I just turned 40 and this is my second baby, I went in for NIPT testing at 10 weeks with low fetal DNA being observed, after second NIPT testing at 11 weeks, the same result of low fetal DNA came back, we moved our NT scan up and everything with the NT scan looked great with nasal bone present and neck thickness at a normal range. They combined that with a blood test and my risk for downs syndrome came back positive with a 1 and 82 chance. We had to move to either an amnio or CVS test. I felt the the CVS test carried too much risk so opted for the amnio which also has a high risk but much better than the CVS. So here we are, finally done with the amnio and preliminary results show that the baby is fine. I am relieved, I have been so scared and have not even told my boss I am expecting yet. We haven't even told my 3 year old yet and have not done any announcements for fear something may happen.
@jkduer hope they can put a rush on the NIPT and get you some answers.
@jkduer fingers crossed for low risk NIPT results for you!
As for my genetic counseling appointment I feel a lot better today than I did prior, but still a little scared which I’m sure is normal. Our risk based on the serum test is 1:44 for T18 but that doesn’t account for the fact we did PGS testing prior to implanting which obviously showed the baby had the correct # of chromosomes. She said our true risk is likely much much lower, especially as false negatives for PGS are less than 1%. Because of the 1:44 risk that means about 97.7% of people in my “results bracket” for the serum test are false positives. Of course I’ve been on the wrong side of statistics before (ivf, sch, a slew of other concerns) so I’m not completely relieved but also not as doom and gloom as I felt prior. Really hoping the holidays make the next week go quicker.
@jkduer sounds like the risk is very low considering the PGS tests. Hopefully NIPT results come back soon with reassuring news.
@knarlytaurus that’s my (high school science-level) understanding of how it works. That’s how they’re able to screen for the major trisomies, because obviously the mom doesn’t have them, right?
So they found bright spots on the baby’s heart. Echogenic focus? I’m waiting to speak with doctor but the freaking radiology office released the results with “echogenic foci observed: genetic counseling recommended”
so i havent slept and have been a wreck all night. Has anyone experienced this? I’ve had negative NIPT/Maternal Serum/Quad etc but I’m still a disaster right now and need to be talked off a ledge.
My husband has SMA in his family and they are known carriers. My results came back saying I'm a 1/800 chance to be a carrier. So a very low chance but they couldn't rule it out altogether. However, the Dr felt this was low enough not to test further so that was a big relief! That was the one I was most worried about.
I was identified as being a positive carrier for HH which runs in my family. So when the little one is born he or she will also be tested for HH. For a child to have HH, both parents must be carriers. Because HH is not uncommon for those with French Canadian ethnicity and DH and I both have that, there is the possibility that DH is a carrier too. Thankfully it is treatable and I'm not too worried. Just thankful to have the heads up!