Trisomy 18??!!

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Cathmomof6

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I had just today started a thread about “knowing” when you are “done” having babies. Well God may have just answered that for me Himself! I am almost 37 expecting my seventh baby and late today I received a call that my afp test came back positive for trisomy 18. I understand that this is just a screening test, and there are many false positives, but they have referred me to a maternal fetal specialist for more advanced testing! I am very upset over this. My husband is away on business until Thursday, and I do not want to break this news to him over the phone - actually I don’t want to tell him at all. I know he will be more upset than me and will not be comforting or supportive. He tends to blame himself for everything and gets depressed easily- that is the last thing I need! I am tryi g to keep myself together so my kids don’t suspect anything!

I guess I am asking for your prayers. We had a peekaboo ultrasound done last week and found out he was a boy, but they were not checking for abnormalities and didn’t mention anything else. I have felt this pregnancy was different from the beginning. I felt movement super early, gained more weight than usual, popped out really fast, and have been super exhausted!! I actually suspected twins, which two ultrasounds have since rules out! Now I am 19 weeks and don’t really feel anything but fat! I don’t know much about trisomy 18, but my Internet research is scary! I assume now I will be pushed for more invasive testing, like amnio, etc. I don’t know what to do but am very scared! I am hiding from my kids right now because I can’t help but cry! I have a strong feeling something is wrong! Please pray for our baby and family!!!
 
CathMomof6, perhaps you should wait for your husband to come home. I know that I would not want to get news like that over the phone. He can’t do anything anyway but worry. Trisomy 18 is serious business and you and your baby and your family will be in my prayers. God bless. :gopray:
 
As a father of a 15 year old child with trisomy 21 I understand the heartache, grief and fear you may be going through right now.

Of course nothing might be wrong. But that just adds to the anxiety in some way.

In some ways certainty is better. Except that it’s not really…😦

Praying for you, and your baby and your family.
 
I’m so sorry and I hope your husband will be home soon! Is there anybody you can talk to (that your husband wouldn’t mind hearing first) while you wait?
 
Cathmomof6 said:
I had just today started a thread about “knowing” when you are “done” having babies. Well God may have just answered that for me Himself! I am almost 37 expecting my seventh baby and late today I received a call that my afp test came back positive for trisomy 18. I understand that this is just a screening test, and there are many false positives, but they have referred me to a maternal fetal specialist for more advanced testing! I am very upset over this. My husband is away on business until Thursday, and I do not want to break this news to him over the phone - actually I don’t want to tell him at all. I know he will be more upset than me and will not be comforting or supportive. He tends to blame himself for everything and gets depressed easily- that is the last thing I need! I am tryi g to keep myself together so my kids don’t suspect anything!

I guess I am asking for your prayers. We had a peekaboo ultrasound done last week and found out he was a boy, but they were not checking for abnormalities and didn’t mention anything else. I have felt this pregnancy was different from the beginning. I felt movement super early, gained more weight than usual, popped out really fast, and have been super exhausted!! I actually suspected twins, which two ultrasounds have since rules out! Now I am 19 weeks and don’t really feel anything but fat! I don’t know much about trisomy 18, but my Internet research is scary! I assume now I will be pushed for more invasive testing, like amnio, etc. I don’t know what to do but am very scared! I am hiding from my kids right now because I can’t help but cry! I have a strong feeling something is wrong! Please pray for our baby and family!!!
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It is extremely normal to have a “different” pregnancy like that at your age. I was *totally *convinced I was having twins when i was pregnant at 35 and 43, and all the rest… looking so pregnant so early…

This is very difficult–I will pray for you and your baby and your family.
 
I am so sorry to hear about this; you must be stressed out of your mind. And to hear this news–which is, of course, only a possibility, but still terrifying–while your husband is out of town makes it much worse than it already is. Is there any way you can get to church tomorrow, preferably on your own, so you can be alone with Jesus for a while? Do you have a friend you can call so you can cry on her shoulder? I know it might sound weird telling someone before you tell your DH, but I know that if I heard that kind of news while my DH was on a business trip, I’d definitely want to be able to tell him in person, and he wouldn’t be at all hurt that I needed a good cry in between. If anything, he’d be glad that I had someone who could let me cry and vent while he wasn’t there.

At a bare minimum, you only have another day to get through before he returns. Hang in there, ok? Feel free to post back here, if only to vent. :console:
 
I thought I was ok. I put my kids to bed and all the crazy night fears came rushing at me. I cried for 2 hours straight, listened to an audio rosary and then tried to sleep but my head was pounding so bad from crying that it was difficult. Finally did sleep maybe an hour and then it all came at me even stronger. My eyes are about swollen shut and my head is hurting so bad but I can’t stop crying. The only people I would tell would be my mom and sister but they already worry so much about this pregnancy with my crazy hips. I am so afraid I did something to cause this. We went on vacation the week before I found out I was pregnant and I had a lot of margaritas and I have been taking different supplements that a naturopath prescribed me for my hips, like glucosamine, etc. My naturopath said they were okay during pregnancy but now I wonder if he is just a quack. I have not eaten nearly as well as I should be. I drink coffee and diet pop. I just feel sick over all this. I want to take Tylenol for my throbbing head but am going to endure it so I don’t mess anything else up.😦

I will try to make it to church tomorrow while my older kids are in school. I doubt I will go to mass since it is at 8:15 and my eyes will still be swollen terribly. But maybe stop in with my 3 year old and 1 year old. They laugh at me when I cry like a crazy lady!!
 
They do tend to have a lot of false positives. But I will be praying for you!
 
Cathmomof6 said:
I thought I was ok. I put my kids to bed and all the crazy night fears came rushing at me. I cried for 2 hours straight, listened to an audio rosary and then tried to sleep but my head was pounding so bad from crying that it was difficult. Finally did sleep maybe an hour and then it all came at me even stronger. My eyes are about swollen shut and my head is hurting so bad but I can’t stop crying. The only people I would tell would be my mom and sister but they already worry so much about this pregnancy with my crazy hips. I am so afraid I did something to cause this. We went on vacation the week before I found out I was pregnant and I had a lot of margaritas and I have been taking different supplements that a naturopath prescribed me for my hips, like glucosamine, etc. My naturopath said they were okay during pregnancy but now I wonder if he is just a quack. I have not eaten nearly as well as I should be. I drink coffee and diet pop. I just feel sick over all this. I want to take Tylenol for my throbbing head but am going to endure it so I don’t mess anything else up.😦

I will try to make it to church tomorrow while my older kids are in school. I doubt I will go to mass since it is at 8:15 and my eyes will still be swollen terribly. But maybe stop in with my 3 year old and 1 year old. They laugh at me when I cry like a crazy lady!!
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Oh, honey. You did NOT cause this, if indeed the baby has it. It’s just a genetic condition; nothing to do with you. Please take care of yourself and use whatever medicines the doctor thinks is safe–including Tylenol–and don’t punish yourself.
 
I have 5 kids and had my last at 37 too, back in 1987. I also failed my AFP on the low side–positive for one of the trisomies of course. Back then, we didn’t have level 4 ultrasounds to check for the extra nuchal fold and look at arm and leg length etc and I was afraid of the amnio back then as it was far less routine than today. No ultrasound though–even a really high level one today–can absolutely rule out a trisomy defect. Amnio or chorionic villi sampling are the only ways to know for sure–and amnio, again, is the more routine and least invasive in my personal opinion. So anyway, in my case and back then, I decided to just do nothing and hope for the best–but I lived with the continual fear of something being wrong for the rest of my pregnancy. And that was perfectly horrible on a day to day basis. It was my first thought in the morning and my last as I went to sleep. It effected my attention to things going on in my other kids’ lives, because inside I was so worried about the baby that it messed with my concentration and ability to enjoy things. She was born in September and I swear, that entire summer is still a blur to me–it’s like I was there but not really–if that makes sense to you–and it was all unnecessary. My baby girl is a perfectly healthy 27 year old woman now. No trisomy. She is perfectly fine and it was a false positive. That particular test has MANY false positives–though at your age, it is certainly worrisome and there’s just no doubt about that fact.

I guess I have no real advice. You and your husband need to set down and talk when he gets home and decide what is right for you–cause that’s really what it boils down to. If I had to do it again, I’d have the amnio. It’s not a question of whether I’d have terminated the pregnancy if she really had been afflicted with a trisomy–because I would have carried her anyway–it would have made no difference. However, if I’d have found out she did have a trisomy, I could have used the remaining part of my pregnancy to prepare myself, my kids and even grandparents and other family and friends for the entire spectrum of health issues that would’ve been involved. I could’ve had the best neonatologists available and in hospital when I delivered to immediately evaluate and take care of her. Everyone would have been prepared. That would’ve been so much better than having them all expecting a perfectly normal baby and then getting a terrible surprise. I could have also researched myself–learned everything I’d need to know etc., arranged for extra help–many things.

Since my girl was fine as it turned out, what it would have meant in my case, is that I’d have enjoyed the last half of what was my last pregnancy so much more because I’d have not worried about it 7/24 for 21 weeks. Which is, of course, exactly what I did–and as it turned out–for no reason! And I’m with you–when I went through that scare–and even finding out in the end, at her birth, that she was physically perfect–I knew it was time for me to quit having babies, as the risk for the next baby—when I’d have been even older-would increase even more. For me, I just knew that while I love all my kids and would love one with a handicap too, that I simply wasn’t willing to invite catastrophe. I looked at the facts, decided that God had blessed me with 5 healthy kids and for me, I didn’t want to throw the dice at my age again. So I quit-- I have 5 and that was enough for us.

Having said that, what was right for me–or what I’d do now, is not right necessarily for you. Can your husband deal with standing 21 weeks of worrying and not knowing for sure–or would he deal with knowing the truth up front and having time to work through it mentally better? What about you–how do you deal with things best? I assure you that amnios are very safe now days. They are done using an ultrasound for guidance, you are “numbed” first so it’s not painful–you may feel a little pressure or tugging but not pain, there’s virtually no risk in real life and they are done all the time. So you don’t need to be afraid of the procedure. (HONESTLY!) It’s done and over with in usually less than 30 minutes, you’ll probably be told to rest a little for 24 hours, and within a very few days, the results come back. The results are almost 100% accurate and then you know for sure. But it all boils down to what you and your husband decide is best in your case. There’s no one right or wrong decision for everyone and you know you and your husband better than any of us on this forum possibly could. My prayers are with you–I know how afraid you are right now–believe me.
 
And Heidi is absolutely RIGHT! You did NOT cause this even if it turns out that the baby does have Trisomy 18. Margaritas, coffee, a vacation–NONE of these things cause a Trisomy. It’s strictly a genetic error. There is a greater risk with older women because you have older eggs–and the older you are, the greater the risk–which is why I quit after my 5th. But short of not getting pregnant with this baby at all, there is absolutely nothing that you could have done or not done to impact this pregnancy and whether or not this child has Trisomy 18. And tylenol is always safe in pregnancy–and just for the record, so are the particular herbal supplements you mentioned. I double checked just to be sure. IT IS NOT YOUR FAULT!!! And you don’t even know if it’s even true yet. I hope your husband will be home soon so you guys can talk–and so you won’t be so alone with this whole worry and fear. Try to just relax a little for now.
 
I’m sorry you are going through this! 😦 the only time I did the AFP test was with my son even though I was only 24 at the time. It has such a high false positive rate and I think it gets worse as you get older.

I’m 33 and am due Feb 6th with my 4th. I’m also terrified of having a child with a chromosome abnormality. I have a daughter who as an X duplication and although it was a random event I was only 26 when I got pregnant with her. I didn’t have any blood work done with that pregnancy nor with my current one…just the anatomy ultrasounds.

Typically with Trisomy 18 there are lots of markers that show up on the ultrasound. I’m not sure what kind of ultrasound you had but maybe look through the pics and look up markers for Trisomy 18 or something to compare.

There could be lots of reasons for the AFP to be off…duplications or deletions in chromosomes could throw a “positive” result…and these things don’t always affect everyone the same either. I know of a lady who has partial trisomy 18 ( a duplication) and she has minimal issues…however she has a son who inherited it from her and he has several problems. so it’s hit and miss.

I will say a prayer for you and your family!
 
Thank you for all the kind words. I am kind of a mess right now. The ultrasound we had was basically just to find out gender and get cute pictures. My regular ultrasound was not scheduled until nov 18, and I was very impatient to find out gender and if there was more than one. I’m not sure if she would have mentioned any abnormalities to me anyways since this was basically a gender reveal. The pictures are really not that great! The head was not always a nice clear shape but she said that was the placenta on top of the head. I have read that trisomy 18 babies have clenched fists, and I do have one picture of him giving a very clear peace sign with his two fingers held up! At the time we thought that was so cute, but it now means so much more to me than that!!

The specialist just called and said they could get me in November 20!!! So I have to go like a whole month thinking something is wrong with our baby. I broke down when she told me that so she said she will give papers to someone else and see if I can get in earlier! I was hoping like today!!!

Starrsmother -
So you would suggest the amnio even if my level 2 ultrasound comes back okay to completely rule trisomies out? I thought I would decline amnio if ultrasound was okay because I don’t think I could live with myself if I caused any more damage!! But I cannot live like this another 20 weeks thinking something is wrong. I cannot physically keep it from my kids who are 12, 10, 8, 5, 3, and 1. I would be a mess and the older ones would surely catch on. I don’t want them to worry for no reason though and I would also hate for them to be expecting this perfectly healthy baby only to be faced with a very sad outcome. I would honestly be more concerned with helping them deal with this than myself!!
 
Cathmomof6 said:
I thought I was ok. I put my kids to bed and all the crazy night fears came rushing at me. I cried for 2 hours straight, listened to an audio rosary and then tried to sleep but my head was pounding so bad from crying that it was difficult. Finally did sleep maybe an hour and then it all came at me even stronger. My eyes are about swollen shut and my head is hurting so bad but I can’t stop crying. The only people I would tell would be my mom and sister but they already worry so much about this pregnancy with my crazy hips. I am so afraid I did something to cause this. We went on vacation the week before I found out I was pregnant and I had a lot of margaritas and I have been taking different supplements that a naturopath prescribed me for my hips, like glucosamine, etc. My naturopath said they were okay during pregnancy but now I wonder if he is just a quack. I have not eaten nearly as well as I should be. I drink coffee and diet pop. I just feel sick over all this. I want to take Tylenol for my throbbing head but am going to endure it so I don’t mess anything else up.😦

I will try to make it to church tomorrow while my older kids are in school. I doubt I will go to mass since it is at 8:15 and my eyes will still be swollen terribly. But maybe stop in with my 3 year old and 1 year old. They laugh at me when I cry like a crazy lady!!
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It’s been said before but **IF **your baby has trisomy 18 it’s because of something at the most basic level during meiosis.

When the DNA strand splits there is some “stickiness” and it takes an extra copy of one of the chromosomes with it to join with the other half of the other DNA strand.

It has nothing to do with alcohol or supplements.
 
I’m so sorry - I would suggest trying to move up the next ultrasound as much as possible. That way, if there is a false positive, you won’t be worrying for as long a period of time. Hopefully your doctor will be aware of the stress that a false diagnosis would create for you, and will try to clarify asap.

I have a friend whose son was diagnosed with Trisomy 18 while she was pregnant. She was advised to abort, and as she was young and unmarried she considered it, but ultimately decided to keep the baby after having our priest bless her pregnancy. At her next ultrasound the baby, who they had told her would have a host of other medical problems as well, was perfectly healthy. He is now a healthy 5 year old boy. Have your pregnancy blessed and also try to keep in mind the frequency of false positives. And talk to someone - if not your husband, then maybe a parent, sibling or friend. I will be praying for you and your baby!!
 
Our ultrasound actually was just for gender and cute pictures. We requested it and paid $100 for it because we couldn’t wait another month to find out. Insurance was not involved. They offer these “peekaboo” ultrasound packages for neurotic people like me at my doctors’ office. The same tech does it that does the regular 20 week ultrasound. I thought about calling her just to see if she may have noticed anything out of the ordinary in light of this screening result just to put my mind at ease but maybe that is not allowed since I specifically signed something indicating this was not a diagnostic ultrasound:shrug:
 
Cathmomof6 said:
Our ultrasound actually was just for gender and cute pictures. We requested it and paid for it because we couldn’t wait another month to find out. Insurance was not involved. They offer these “peekaboo” ultrasound packages for neurotic people like me at my doctors’ office. The same tech does it that does the regular 20 week ultrasound. I thought about calling her just to see if she may have noticed anything out of the ordinary in light of this screening result just to put my mind at ease but maybe that is not allowed since I specifically signed something indicating this was not a diagnostic ultrasound:shrug:
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Firstly, a huge hug, from far away. These big things are so much harder to deal with alone.

I’d call the ultrasound tech and ask. The worst is that she can’t say anything to help you…but she may well be able to, she may even be the person you can speak to and cry with before you draw your husband, mom and sister into that group of support people.
 
I’m so sorry you’re going through this and will certainly pray for you.

The PPs are right - you did NOTHING to cause this. Trisomy 18 (also called Edwards syndrome) occurs when there is an extra chromosome in pair 18. This occurs at the moment of conception and is most common in older parents.

There is one thing in your favour - your baby is a boy. Most cases of this syndrome occur in girls.

Depending on the test you had done, it may be the case that there is a greater probability of trisomy 18, rather than an actual positive. Often, if there is just a greater probability, the test ends up being a false positive.

An amnio is usually not your only option - sometimes they are able to find fetal cells in the mother’s bloodstream, so they can do a simple blood test. They’ll do something called “karyotyping” with the blood, which means they actually take a photograph of the baby’s chromosomes. Babies with trisomy 18 also have characteristic facial features, and you will often see malformations of the hands and “rocker-bottom” feet (they look like the bottom of a rocking horse). These may be visible on ultrasound.

Sadly, if your baby does have trisomy 18, the outlook is not good. Less than 10% of babies with trisomy 18 survive to age 1, as they often have multiple heart and abdominal organ problems. Sometimes they are stillborn. However, if this is the case, you can prepare your children in advance. If the baby is stillborn, you might consider holding the baby and taking some pictures to remember him by. I will pray for you.
 
VivienneJ said:
I’d call the ultrasound tech and ask. The worst is that she can’t say anything to help you…but she may well be able to, she may even be the person you can speak to and cry with before you draw your husband, mom and sister into that group of support people.
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^^^this

from what you’ve said, this was a regular ultrasound tech employed at a Dr.'s office and not one of those walk in shops in the mall which are just for fun. If she had seen anything alarming odds are she would have told your doctor then and there since doctors are the only ones who can actually tell you what’s up with ultrasounds. Your doctor most likely would have called if something serious showed up…I had my 20 week one 6 weeks ago and the tech pointed out some things but the doctor was the one to go over the pics and inform me that baby looked great but that my placenta was low.
 
My ultrasound was done at my doctors office by the same tech who will do my mid pregnancy ultrasound here in a couple weeks. She even said “looks like a healthy baby” so I am hoping she would have at least mentioned if there were any obvious abnormalities.

I told my sister who immediately called my mom who came over and made me leave the house - even though my eyes are still nearly swollen shut from crying. That is exactly why i didn’t want to tell them but it did help some. My mom was told at my age that my youngest brother had downs syndrome and he was completely fine so she understands.
Maternal fetal medicine was able to get me in tomorrow at 8 so at least I will have some answers then. I had to tell my husband over the phone since my appt is tomorrow. His flight leaves late tonight and he should be in by tomorrow morning so he will hopefully make it! Please continue to pray for us!!!
 
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