I am not sure whether you ladies can help me or not, but I thought it was worth a shot. I am right now, 20 wks pg with my first baby. I am 22 years old and DH is 28. Everything seemed okay until I got my 18-20 week u/s results back. Nurse had called and had said that the baby has an EIF (Echogenic intracardiac foci) on his heart. They told me in the beginning that I was so young as well as DH is, and since it didn't run on either side of family I didn't need to do the triple screen. Well, now I am kicking myself in the as* for not. Anyways, they told me that this EIF is a marker for Down's Syndrome. Naturally DH and I are sick. They said in some cases in younger women the spot may be benign and just go away on it's own, but for others the baby may end up having D/S or congenitive heart problems. I was wondering if any of you would happen to know anything about this. I am so very worried and don't know what to do. They are doing another u/s with a genetic specialist on Wednesday, but even then we won't be totally sure. They also told me that it is too late for the trip screen now, and amnioscentisis actually has more chance of causing problems than just letting it go. I am lost, and upset and need some advice or suggestions. Any help would be greatly appreciated!
My fourth daughter, Sadie, had an Echogenic Intracardiac Foci also. When they called me and told me there was a shadow on her left ventricle- I freaked. I went searching the web and found it was either going to be nothing or such a serious heart defect that it could be fatal. I was sick and terrified. They wanted to see us at the genetics office right away- since I was about 24 weeks. When we met with the genetics counselor, she told me that this particular finding would take our chances of having a baby with ds from 1 in 567 to 1 in 100. A 1% chance. We asked about how serious of a defect her heart could have. The counselor told us that it didn't mean she had any defect at all. It was a soft marker for ds and that 5 % of all the population has it. I talked to my ob- who reviewed both ultrasounds and said considering we didn't find any of the other 15 physical markers on the ultrasound, and because 5 % of the population has the foci (they were considering it not even be a soft marker for ds) she told us not to worry aobut it. I talked to many people and so many of my friends had perfectly healthy children with the foci. We just forgot about the whole thing and looked forward to taking home our fourth little girl. As soon as Sadie was born, I knew. She does have down syndrome. It was terrifying at first. I didn't know how I would find the knowledge, strength and ability to care for a special needs child. Sadie just turned 2 and I can tell you, she is the love of our lives. She is the center of our family. She brings us joy and laughter; helps us appreciate live, milestones and brings us closer as a family. There have been some medical issues. We have tried hard to make sure we provide the best for her. She is thriving, she is happy, she is learning, she is adorable and she is more than we ever hoped for. There is so much information, support and help out there. I hope you don't have to go through the heartache every parent with a special needs baby does... but, if you do- it will be hard but it will be worth it! Good luck and may God be with you.
Thank yo so very much for the info. The part that sucks is that we won't KNOW until he is born. It is that not knowing that is killing me. Unless of course they find other markers therefore I will be convinced (altho I am convinced right now). It isn't that I would not love the baby just the same, it's just that I am only 22 years old and having a baby w/o downs and the thought of being a good mother is terrifying, let alone having to be a good mother for a child that needs more. I am glad to hear ur little baby doll is wonderful, I would think nothing less. Just a question. Did you or your DH have it on either side? Or did they say your age affected the chance at all?
Down syndrome can occur three different ways. #1- the most common is spontaneous and at conception. It has nothing to do with family background or how old you are. I've often heard that the reason so many babies are born to older mothers is because they choose not to abort. In my experience, it is about half and half. Half of the mothers are young (even some are teenagers) and half are over 35. #2- is something called translocation. It is when one of the parents is a carrier. If a parent is a carrier, you will have a 1/4 chance of having a baby with downs. #3- is mosaic downs. This occurs in 1% of downs baby. It is when the baby is forming fine, and at the 10th or 13th week, an extra chromosome attaches to the 21st gene. Therefore not all of the cells are affected. I was told by our genetist this is the most mild form of downs- but I have to say, almost everyone in the down syndrome community (mothers and fathers and therapist) would disagree. It really depends on what is affected.
Anyway, if you would like there are many resources with more exact and detailed information. My point is- most of the time, it doesn't matter what your family background is and how old you are. We didn't know Sadie had downs until she was born. I was 31 when I concieved and had a 10 yr. old, 8 year old. and a 5 1/2 year old. Not really a high risk pregnancy. I had never had any miscarriages and except a bad case of everyday sickness- there were no other problems. I was 31 when I concieved which made my chances be 1/567. Not a high risk pregnancy. No we did not have anyone in our family with downs- the only thing they saw, was that both our mothers had several miscarriages.
I liked not knowing- I knew (because I had other children) that there was no way I could reject a baby in my arms. No matter how they looked (my first looked like some wrinkled, peeling fished eyed thing) My husband wished he had been able to prepare a little more. It was kind of intense in the delivery room. About half of the parents I have met know ahead of time. The people who find out before do a lot of research and have also gone through alot of the greving. I choose not to have an amnio because of the risks, I wouldn't do anything about it and I had already been soooooo sick- I wasn't going to do anything to jeoprodize this pregnancy. But, if you really want to be truthful, I didn't want to deal with it right then. I usually am a go getter- but I think deep inside I knew. Anyway, you need to do what makes you feel comfortable. When Sadie was born- I tried to get my ob's attention, when she fiinally looked about me I said, "Nancy... Nancy?" She just looked me right in the face and said, "I don't know, she's got some extra skin on one side of her neck. BUT, YOU KNOW GOD WOULDN'T GIVE YOU ANYTHING YOU COULDN'T HANDLE. YOU WILL CARE AND LOVE THIS LITTLE GIRL NO MATTER WHAT!" She was right. It's hard to hear, but you aren't given any challenges you can't handle.
Chances are (I hate to talk about satistics) you won't have anything to worry about. Go to your ultrasound- there's lot they can look for. Enjoy your pregnancy. Have you picked out a name? I'm not sure I'm allowed to take about other sites on this board- so if your ready, I'll find out a way to get you some more info. You can just lurk and see how wonderful all our little children are!
I totally agree with you. Even if I would have found out in the beginning, I would not have aborted this baby. I think it is morally wrong to abort a baby period. We have picked the name Alexander Justin. I will post you after this u/s, when hopefully I will know a little bit more. I am sure the info that you could give me could be very helpful. Thx!
Well, just got back a couple hours ago from the genetic u/s with the genetic specialist. They said that is the only marker he has, and not to worry. But I am. They told us that he is growing at the right rate, and chances are it should just go away. They told me I can still do the triple screen and amnio, but I opted no. I am having this baby not matter what and I will love him no matter what. Knowing the "statistics" which are wrong half the time anyways isn't going to change if my baby has D/S or not. I am just praying to god everything is okay with him. And I know god will give us what we can handle. Thank you for your support. And the more I know I will post. Take care!
I'm glad to hear everything went well with the ultrasound. Most likely, you will have nothing to worry about. I've been thinking of you and keeping you in my prayers. Good luck with the rest of your pregnancy and enjoy yourself. Focus on getting ready for your baby boy and if he does happen to have ds (and since you have already made a decision not to have the amnio)- deal with it when he is born. If there were any reason to worry about his health- they would have told you after your u/s. So, go do something special for yourself and Alexander- buy him a baby book, a new outfit... just something to celebrate that you are going to have a baby. By the way... when are you due? Congrats, and have fun
My due date is February 4th. I am definately going to try and just enjoy being pg now. I know the worry will be still in the back of my mind there, but I don't want this baby to be stressed on top of everything else. DH and I have been looking at little boy clothes. I thought from the start I was having a little girl, but our u/s's definately show a peepee. : ) As a matter of fact, during the u/s, my son decided to play with it. We have a sonogram of him holding it. All I could think was "You little brat, I am here worrying sick over your health and all you can do is play with yourself!" haha! I guess boys will be boys, even in utero! Oh well, definately daddy's baby! My sis is giving me a lot of my nephew, who is 2 stuff. So, that will be fun! We are getting ready to paint the room too (god willing). Well, I hope you and family are doing well. Thank you for your prayer, we need them! Take care!
I am pg with twins, due in February. Because triple screening results are distorted in twins, I did not have the luxury of that test at 12 wks. I only had the u/s which showed low risk w/ nuchal translucency of both babies.
At 20 wks however, it was found that one of the babies has the EIF and I was just devastated. My OB strongly advised us not to have an amnio due to the risk to the pg (though it is quite low). Also, we struggled to get pg for 3.5 years, have a history of mc and went through numerous rounds of IVF to get here, so if something did go wrong due to amnio, who knows if / when we would have been pg again. However, I wish that I had pushed for the amnio at an earlier date, because I feel so vulnerable with not knowing. I do think we might have used the information to make different decisions had we had it earlier on.....
I have been told that even with the EIF, we are at low risk of DS, but I am not comforted by statistics (especially in the absence of the triple screen data) and 30% of DS babies are born without markers during pg. I was so excited about finally being pg, but I am quite distraught now and try to put it out of my mind. I think that I need to do some research on DS to prepare myself in case it happens. Otherwise, I am so afraid that I will reject the baby when it comes. I need to get to a place where I will know that I will love the child and be the best mother to it no matter what. I have a few months to get there. I feel like such a terrible person, I am so afraid and I don't know what resources to turn to for help. Please can you make some suggestions (message board permitting, of course)
First of all, all your feelings are perfectly normal. The fear of the unknown, the baby that is different than you dreamed for, maybe even feeling let down because you have tried so hard to have a baby. But, I believe that once that baby is placed in your arms (no matter what the outcome be) you will have two choices- to reject it and focus on your feelings or embrace your child and move forward. That isn't saying that you shouldn't work through your feelings, and you have every right to feel whatever you do... but- I think when we are thrown a curve like a baby with special needs, something inside us goes into survival mode and we push forward. I can't imagine what you are going through- most of us would be a nervous wreck having twins!! I would like to get you somemore info.- but I'm on my way to therapy with my sweet little Sadie. However, know this- I have talked with a few parents (one with triplets- girl has ds; one with idential twins with ds; and one with twins one with ds and one typical) and it is amazing how they have coped and found joy in their lives. It starts to become such a part of live- that you honestly forget (which I thought was impossible when I first had her and woke up to screaming in my head saying "Down Syndrome"). It's hard to believe now, but it becomes about rejoicing in what they are doing- not focusing on what they can't. I will come back to the board when I have more time and I can talk to some of my friends, but hang in there and enjoy your little ones. I know it has taken a long time to get pregnant and I would hate for anything to overshadow the joy of carrying these little ones.
Thanks so much for your response, you sound like a special person!
Thank you for offering to take the time to send me some info / to get insight from your friends with multiples. I think it will be very useful.
I agree that theoretically, anything in our lives becomes our own norm, but I need to get to a place of acceptance first.... I am trying.....
I looked at some pictures online of some kids and babies with DS and they looked so happy and delightful that it made it a lot less scary. I guess that my only real exposure to kids with DS has been historically when I have volunteered for events at special needs homes, where they seem more alone and neglected. It must be so different when they are in their own home, with their own parents and siblings. I have always understood kids with DS to be exceptionally affectionate and loving.
I am mom to fraternal twin boys. I did have the triple screen, which came back normal, and like you, I was advised not to have an amnio. We very much wanted to be pg., I really was shocked to have twins, but I wanted both babies very much.
I hope this won't scare you, but my middle boy was born with Down syndrome. I can tell you that we were sad, and grieving, and confused. In the beginning, I wondered a lot if I could be a good mom to my unique son. I was afraid. If I could give you one thing, it would be to take that fear away.
I didn't know, then, that there was nothing to be afraid of. I didn't know how much I would love my children, all of them, and my life. I didn't know that I would, in time, feel like the luckiest woman in the world. I am so very, very grateful that I didn't do anything to put either of my babies at risk. I have the advantage of hindsight, and from where I stand now, I believe all my children are blessings.
So I guess I am your "worst-case scenario," and I can tell you it's not bad at all. In fact, it's lovely. Blessings to you and your family. I know how hard it is to carry twins! Double the worry!! But double the joy.
I wanted to check in with you because you really helped me when I felt very vulnerable in my pregnancy. You helped to give me a lot of courage when I really needed it and helped me see that I would cope with whatever came my way. Thank you so much. I will always remember your generosity and kindness.
We had our twins a few weeks ago and after a pretty challenging pregnancy, our babies arrived at almost 38 wks. We are so blessed to have a son and a daughter, but mostly that both babies are healthy. We are still awaiting the results of the DS chromosome test for our little boy, who is the one that showed the DS marker. Superficially though, he does not appear to have DS. Now of course, I am very grateful that I did not have the amnio which could have placed the twin pregnancy at risk.