Can an amnio be wrong??

[Nikki2ol6]

At 20 weeks we were given devistating news our baby has major heart defects and did we want to end the pregnancy we decided we wanted to know if there was anything else wrong as our chance of a chromosome abnormality was 1in5. We had an amnio done and it all came back normal! We decided we would continue the pregnancy. I'm 34 weeks now and had a scan at 28 weeks and my baby was measuring a little behind but the dr said well your amnio was normal so that is reassuring.... I though reassuring I thought it was 100%!!!! But I didn't think this till after wards so now my bump isn't measuring up well and has shrunk and my midwife said she can feel my baby too easily and thinks I have low fluid levels so I have a scan in 2 days so naturally I googled low fluid and read it can be because the baby has problems with his kidneys. Now I'm freaking out because in my amnio one of the things they wanted to check was degeroge syndrome and I know this can cause kidney issues.... does anyone know if an amnio can say all is well when infact it's not??

An amino can only test for certain things - chromosomal and genetic conditions which show up in the baby's DNA

While these account for most developmental issues, there are sadly other problems which aren't caused by genes or chromosomes

Sometimes there can just be a mistake when the baby is growing, and one or more organs don't develop properly
Sometimes there can be a problem with the placenta or your body which causes issues but won't show up with an amino

Have you been seen by a Fetal Medicine consultant? If not, ask your midwife if you can see one and also get an extra scan with them

Good luck and hope it is all ok

Yes I see them often for scans and talks. It my last app was at 28 weeks when all they said was my baby was a little small for dates and I see them again in just over 1 week for another scan and update and talk about induction.

The amnio has looked for specific genetic conditions and hasn't found them, which is great.
However, that doesn't mean that the baby can't have other genetic problems or illnesses that can't be tested for.
When a baby has a major heart problem, it is more common for the baby to be small or have growth restriction. Being small correlates (often) with less fluid. Obviously you are having a scan soon to look more accurately. They are also likely to look at the baby's kidneys again if the scan is done by a fetal medicine specialist.
I'm sure this is all very stressful for you and your family. Thinking of you

The amnio will only test for chromosomal/genetic issues. If your baby has a heart defect that can be caused by lots of things, one being chromosomal issues. I think what the doc meant was it's reassuring that, although your baby has heart issues, they won't be caused but a chromosomal issue (which usually results in lots of other additional issues)

If your amnio has come back clear for everything (I presume you had 2 sets of results, the rapid ones within 48 hours for the major trisomies and then a later one for a full karyotype screen?)

I am by no means a medical professional but a heart defect may well lead to smaller growth and other issues.

Have you called ARC? They are a charity supporting those with an antenatal diagnosis, I'm sure they could offer you some advice or support, or simply someone a bit more knowledgeable to chat to.

Yea I had results back the next day then more results 2 weeks later and all are normal. They said on all my scans they can see no other problems but to be honest I'm probs just a bit paranoid

I'm not surprised you're a bit paranoid, you've had a stressful antenatal diagnosis, been through an amnio and wait for results and now a slightly worrying scan.

My opinion is that they would be much more proactive if they thought there was an additional problem. Having been on the receiving end of bad news I know they definitely won't try to shy away from bad or difficult prognosis.

It sounds like you've had a really rough time, on top of normal pregnancy worry. Try arc, they really are brilliant. Sometimes someone to chat to is what you need when you're stressed. Alternatively you should have a screening midwife who might be another person to talk to, I know mine were brilliant and we're happy to just chat when I was stressed.

Nikki may I ask what heart defect your baby has? I am 24 weeks along with our baby. We did not have amnio as we chose to have the Harmony test which showed low risk for Chromosomal Abnormalities. The fetal cardiac ultrasound showed that our baby has a major heart defect like yours. Ours has complete transposition of the great arteries as well as a small hole in the heart. Our baby will need open heart surgery soon after they are born. The scan at 20 weeks showed that all other organs looked at that point to be normal. I did notice that the measurements were all on the lower side of normal. Our consultant did say that baby may be smaller than average as the heart is working harder and can make growth slower. We are expecting a small baby (not least because it will be delivered at 38 weeks by C-section due to my previous emergency section). Did you get a number for the fetal cardiac nurses who will be looking after you and baby. We were given a number for two nurses who work together and are very practical, informative and caring. If I have any questions then I know that they will be very happy to talk through my concerns, they have a little more time for it than the consultants do. Perhaps that is worth a try?

My daughter has 22q11 deletion (DiGeorge Syndrome). If you ever need to know anything.....feel free to pm me :)

Hi butterpuff my baby has a double outlet right ventricle, this means both the vessels are in the same side of his heart, he has a large VSD. His plumonary is too wide so too much blood will flood his lungs and his aorta is too slim not allowing enough oxygen blood around his body and the blood won't be "full oxygen" because of the vessels being in the wrong places and there being a VSD. He will need heart surgery within days to put a band around his plumonary and to open up his aorta but this is not open heart surgery they said they will go in through his arm pit area. Then at a later date when he's stronger he will need open heart surgery to correct the rest.
Yes I have a number for the nurses at the heart hospital and I have met up with them and they took me and my partner on a tour of their wards. They said I can ask them anything I like from after the birth... but they don't know much about before the birth.
I met with my consultant again the other day for my final scan and to talk about the delivery, my baby is a little small but his tummy is very large so I have had a GTT test and awaiting results, we have decided to let me go into labour naturally so my baby can get bigger and stronger, I have an induction date set but it's after my due date so I will most certainly have delivered by then so I have 4 weeks left and I'm so scared about the birth! All the people who will be there how my baby will be once he comes out and what if he can't cry and breath. I have asked them how will he be but they don't know for sure so are going to be there ready for whatever may happen. I really hope I'm well enough to travel with him to the other hospital I can't imagine him being taken miles away and having surgery without me by his side

Hi Nikki, I just saw your message. You must be getting very close now. Is this your first baby? It sounds very complicated, but the doctors have a plan and that is good. How did you get on with your GTT? I hope all was well. I hope you are feeling reassured and have found people to talk to. As nobody has indicated that your babies heart condition is linked to any other syndrome and the amnio came back clear that it is just the heart problems you need to get past. Like us. We were warned with our first, who had no problems that she may be silent, and as I had an emergency section there may be breathing problems. These are things that doctors deal with daily. Its distressing, but the doctors do know what they are doing. In all honestly, they never know what to expect when a baby is born under any circumstances. But are prepared. I would expect that you will be fine to travel within 48 hours of birth under normal circumstances so should be able to travel with baby. I was in for three days after the birth of my daughter because we were both on IV antibiotics. But that would still have fitted with the time scales. The doctors will do all that they can to keep you and baby together. Even with my section which is now booked for this baby they are expecting me to be recovered enough to be discharged at the same time baby is transferred for its operation. Have you tried any of the hypnobirthing and relaxation techniques? I have been told to find out about them to help not just with the birth but with all that will happen after baby arrives as the midwives know that it will be a stressful time. Ill be thinking of you, I hope you will find the time to check back in and let me know how you have got on. I am focusing on the good news that everyone concerned knows what is wrong with babies heart and there is an excellent plan for its care. That gives me comfort, I hope that knowing that gives you comfort too. You and your baby could not be in better hands.

Hi, I'm having an induction in 2weeks if he hasn't arrived on his own but ideally they want him to come on his own terms as it will be less stressful for him and less chance of a section because they said if his heart starts fluctuatin at all it will be a section. They have also said his pulmonary is twice as wide as his aorta now so he will need that first op very soon after birth to put a band around the pulmonary then to open up his aorta more. I'm so scared about it and I know when the day finally arrives I will be terrified and most likely break down once I get into delivery suite so I feel sorry for the midwife who will be having me as I feel I will let it all out there and the , all the fears Iv been building up all these months. But I'm so pleased the Drs know about this and will be there and ready for him coming out. This gives him the best chance and I couldn't be more greatful to the midwife who done my 20wk scan and seen this. So I am excited about labour and meeting my baby but I'm terrified that once he's out he's no longer safe and has an awful long road ahead of him. My GTT was fine and I need to cut down on the unhealthy foods and drinks so less chocolate and Pepsi 😔

I'll keep my fingers crossed for you that he comes on time and its a strait forward labor. A Christmas Baby will be so lovely. I really recommend the relaxation technique to keep you calm during labor and afterwards. Its mixed feelings isn't it. For most people the worrying bit it when labor will happen and how. When baby has to have treatment after its all about what is to come, I'm feeling the same with our little one. You must be excited though, so close. I will keep an eye out for updates.

Iv spent the last few months researching and learning about defects and what to expect so I feel I'm prepared and know a fair amount about. What will be happening. And the not knowing the date is better as having a set date I would be dreading is worse. He's my 5th baby my other 4 were all normal straight forward pregnancies and deliveries so at 20wks we got such an awful shock. How many weeks are you now?

I'm 27 weeks and will be having a planned section at 38 weeks. We only have one other but it was such a strait forward pregnancy that like you we had a bit of a shock when they said all was not well. We expected to turn up for the scan (it was our dating scan we found out) get some pictures go home and tell everyone the good news. Not get taken into the side room to have the news broken. But it sounds like our baby while it will have a tough start will do well in the end. Loads of research here too. I kind of know what to expect practically. But not sure what to expect emotionally. How well I will cope. Given your history it sounds like you have a good chance of him arriving on time and simply which is really great news. I don't know if its a bit of a defense mechanism but rather than stressing about what baby is going to go through I keep stressing about leaving dd for a couple of weeks while me and baby are in hospital. Ive only been apart from her for 1 night in two years. But we just have to get on with it really don't we.

Yes we expected the same go for our scan get some pics and go home but they kept scanning his heart and saying he's moving too much we arnt getting a good imagine but after 20 mins I knew something was up, the when she asked if her colleague could come in and take a look I knew there something was seriously not good, she broke the news during the scan asking if we had anything to tell her.... like what I said?? She asked about our screening and if it was low risk I said it was very low risk so she went on to say have you ever heard of a hole in the heart. I felt relief that's all that was wrong then she told us the vessels were the wrong sizes and in the wrong places. We were in that scan room ages and I kept thinking maube he was moving too much and they have made a mistake. But the Drs from the heart hospital have been coming over to the fetal medicine unit scanning me and learning about his heart and they will be there when he is delivered. I feel happy about this because they know exactly what is wrong and I feel safe with them there. And my youngest is almost 2 and I'm dreading leaving him for all this time he's still like a baby to us where as my other children are older and I have explained the baby is poorly and we will be in hospital for a while and they are fine about this. And I'm not sure either how I will cope once he's wheeled out of that door and I'm lying in the bed wishing I was well enough to walk out after him

We had a very similar experience. Though our investigation was triggered through the nucual fold measurement being really high at 12 weeks. So it was amnio or cvs or harmony test. Results showed low risk so off to UCL for a fetal heart ultrasound, which took ages and ages with lots of come on baby stop hiding. Then the bad news that babies tubes were plumbed in wrong. Since then we have had a few scans at ULC carried out by the team from Great Ormond Street to confirm and keep checking. They are so relaxed about it that it seems a smaller deal than it is. Apparently in our case the surgery baby needs is carried out twice a week at Great Ormond Street so that has to be good news. Our DD is also coming up 2, in fact she will be 2 while baby and I are in hospital so I wont be there for her birthday. I hope she can visit us. Its probably better (if very hard) that they get wheeled away without us so that the doctors can concentrate on what they need to do. So long as we get back to them as soon as possible. I'm really hoping to Breast Feed again, but I know that will be a really hard journey because of baby being quite weak and in NICU initially.

I want to breastfeed too but they have told me he will
Most likely be tube fed as he will be weak but I can express but how will that work if he's miles away in another hospital 😔 I packed my bag and a seperate bag for my baby with only nappies wipes and milk incase I can't be with him, also some hats scratch mitts and a blanket. They told us he won't need any clothing as there will be too many wires on him and he will be in an incubator. You see it on tv all the time but I can't imagine that being my baby in there. My baby will be in cardiac intensive care and they showed us around and it was so daunting and gloomy. There is 1 nurse at the end of each bed who stands there watching the machines at all times, there was a very poorly baby in there too and the midwife who showed us around said our baby will be on More machines than this! So I am getting a bit panicky now about it all as I'm 38wks today and it could be any time now

There is a poster on here, TikTok, who is very knowledgeable about breastfeeding, Nikki - she might be able to give you more information about how it would work.

I would assume that you will be able to use a breast pump at the hospital you are in, and the milk could be stored in sterilised bottles and transported to the hospital where your baby is (maybe your partner or a friend or family member will have to take it), and it can be given to your baby via whatever way they are being fed.

Even if all your milk doesn't end up being fed to your baby, you will be keeping your supply going, so that, when you are discharged and can go to be with your baby, you'll be able to carry on pumping, and hand the milk over directly.

I used to be a nurse, and I absolutely understand how terrifying all the machines look - especially when they are connected to someone you love. But the nurses will talk you through them, and understanding what each one is doing for your baby, will ease that particular worry.

I will be keeping you and your baby in my thoughts and prayers over Christmas. {{{hugs}}}

Nikki you would have to double check with a midwife but I expressed for my poorly baby before she was here to get a head start on a supply for her to be supplemented with.

I was about to say the same as Frank Nikki we were given a leaflet by the midwives about BF and how to get stared with expressing before baby arrives. From around 38 weeks. The midwife said it can help as your at home and comfortable when you start your supply going so its more likely to continue once you are in hospital among the bright lights and beeping machines. I was also told baby may be tube fed as he or she will be quite weak to start with.

I know what you mean, we haven't had our tour of the NICU yet but I've seen the pictures on TV and my SIL who works in neonatal care has explained the machines too me. I think it will help to know what we are going to see but having your own baby linked up in them is terrifying.

I'll be thinking of you Nikki. Wishing you and your baby well.

Hi Nikki,

I've been thinking of you. Just wondering how you are doing. I hope all is well.

x

I'm 23 weeks pregnant and they couldn't get the measurements at my 20 week scan so I was transferred to Manchester where a specialist scanned me and he said the baby has stopped growing also he did amnio I'm waiting on the results but he said I'll scan you again in 2 weeks to see if the baby's grown if he has grown your probably going to be induced and going to have to have a c section but my baby will only be 25 weeks I'm so scared😭

Yes in a word ! Mine was!