Trisomy 18 Scare

Remember that these are only screenings and they are only about 60% accurate if that. Your doctor should have explained that to you before you agreed to take the test. Amnios come with some risks also and you need to be VERY sure that you want this done. When I was pregnant, I opted to not get the triple screen (or quad) done because I had no intention of having an amnio and figured since the acuracy is so low I didn't want to stress. As it turned out, they found a choroid plexus cyst on my baby's brain via u/s and I was told that this could be nothing or it could be non-compatable with life. Nice options! It turned out to be absolutely nothing and I spent the next few months of my pregnancy worrying for nothing. I should have been enjoying this wonderful time! I think that all of this technology is great but no one tells you how much worrying it causes.
Bottom line...the stats are stacked FOR you in these cases. Do what you feel is best but ASK many questions to you OB as well as other OB's to get a feel for what's what. Some OB's feel that those 3-D ultrasounds can detect abnormalites safer than an amnio. (there are certain physical characteristics visible with certain chromosomal disorders.)
Another thing that you have to keep in mind is that the amnio, at best, can determine if there is a chromosomal abnormality...but it CANNOT detect severity! I have a friend whose son has Down's syndrome and he is HIGHLY functional and a GREAT kid!!

When i was prego with my twins. my one test came back high. Then they found out that it was twins. Just make sure that it is not a multple prego. Best of luck. And they have such new tech for things. Just take one day at a time.

Best of luck

V., this must be a rough time for you. You are probably getting very attached to your baby since you are 17 weeks along and these things come as quite a shock. Try to remember that the screening tests are just that - a SCREENING only, they do not diagnose problems and they have very high false positive rates (that means they turn up positive when nothing is actually wrong). The amnio is a diagnostic test. If you choose to have it done you will get a more accurate picture of any genetic abnormalities (your care provider should fully inform you of the risks of miscarriage and complications with this test before performing it). What it still won't tell you is what your individual child will present with.

There are so many variables and 2 people with the same 'diagnosis' can have very different types and severities of problems. Ask yourself why you want this information to help you go forward. Would you abort and under what circumstances (based on the screen, the amnio results, other criteria)? Would you want to know more to prepare yourself if your child was born with problems? Would you keep the baby no matter what and you'd rather not dwell on what problems the baby MIGHT have? Just to be clear, I teach pre-natal classes and these are some of the questions people ask themselves to make their own decisions - I am not asking for answers of you. Best wishes for you and your family whatever you decide.

D.

Hi V.,

I am so sad for you. You, your baby and family are in my thoughts and prayers.

Please know that you are not alone in what you are going through. I too received devastating news re: my unborn son. We ultimately decided to leave things in God's hands and not terminate the pregnancy. I was never so scared in my life. Then when I had him I just had a feeling of peace come over me. (I'm still not sure where that came from) He was my beautiful baby boy, despite his defects. He lived for 17 days. Looking back I wish I didn't know how sick he was so I could just enjoy each little kick that I felt from him. He was a gift and so is your baby.

If I can do anything for you or share more of my experience w/ you please write. My son died 6 1/2 years ago but I have found happiness again when I thought I never would.

Try not to think worst case scenario... it can be very scary to have someone tell you something is wrong with your baby. I had docs tell me my son would have Downs Syndrome and it turned out to be nothing. Try to wait for confirmation that something is wrong before you spend a lot of your time being scared. (easier said than done) I hope all turns out well for you.

I really feel for you. I am 16 weeks pregnant and came back as a positive carrier for cystic fibrosis. we had to have my husband tested and all. I just became very ill and have required many inhalers all which state "cause a risk to the fetus." Birth defects, cleft palate etc. The choice is...do I take the meds so I can breath and not go into resp distress or go with out the meds. We have already been in for multiple US to watch for bleeding etc. I really feel for you, it is hard to understand "why" certain things happen the way they do. I have a girlffriend a few years ago who tested positive (I believe it was either DS or trisomy)and they told her the baby would be deformed etc. The doc who gave the second opionion told her to terminate at 18 weeks. Due to her religious beliefs she continued the pregnancy. They delivered a healthy normal baby (the docs were wrong) She told everyone could you imagine if I would have listened to the dr's and terminated. Not to mention she had a very hard time conceiving.
She went into her pregnancy with a servant loving heart and all turned out well. I must say there is a god. Good luck to you and your family. I am sorry you have to go through this at the holidays.

V. - I am so sorry about your baby's diagnosis.

I went through a very similar situation about two years ago. My quad screen came back with a problem too, and then my U/S showed that the baby had anencephaly, with is where the brain and skull do not form. I was at 19 weeks when I got this info. The Dr.s told me the baby would be still born - would not survive. I went through labor. It was a boy who we named Elliot. It was a comfort to us to have him buried in the family plot in Vermont, we visit him whenever we are in Vermont.

The only advise I can offer is that this will one of the most difficult experiences of your life. TALK, TALK, TALK to whoever you can about your feelings and concerns. Get them out, express them, don't hold them in. Know that the people around you want to give you comfort, and they may say the wrong thing, but be well intentioned.

I was able to have another healthy child almost exactly one year after the loss of Elliot. I know that Elliot is my angel in heaven.

I am praying for you V..

W.

I first have to say that I've been lucky enough to never go through something like this, but I wanted to write to give words of encouragement. It must be so hard, but try to hold off on thinking the worst until you know for certain what the situation is - hopefully the ultrasound will show that all is well. A friend of mine had a false positive on the test for downs syndrome when she was pregnant, but further testing showed that everything was okay.
If the disorder is a reality, then take it a day at a time and follow your heart. I really believe that all things happen for a reason and a baby is always a blessing in whatever way they touch our lives. I will be thinking of you and hoping for the best, no matter what the outcome of the tests later this week.
Take care of yourself.

First, close your eyes and take a deep breath. As if pregnancy isn't stressful enough, here's more for you to deal with, right? And everything you read online will scare the pants off of you. Access to information can be both a blessing and a disaster. I didn't go through the quad screening, but during a sonogram they found something that led them to believe our baby MIGHT have this problem. One of the things I read online was that they look for the baby to open and close their fists during the sonogram because apparently babies w/ this problem are unable to do that. (I'm not sure why.) It took a little time, but after a few minutes we were finally able to see our little one open both fists. I actually kept the sonogram picture where our son was waving, because there were times (even months after) that I needed a reminder that things were okay. Although this isn't information on the syndrome, I hope it helps to know you aren't the first to hear this news but sometimes things can turn out fine. Good luck!

I know that this is scarey, but please believe me when I say,"It could be nothing". My quad came back pos for trisomy 18 also, but when I had other tests done, all was fine. Those tests are extremly sensitve....extremly!It is a scarey thing, honeslty...if I had to experience my child having this disorder, I know that I would be scared out of my mind also....reading information about this disease is going to scare you more....just hold off until you get another positve...take care of yourself....

Hi, when I was pregnant my screen came back positive for Downs Syndrome..only 25, first baby......Jordyn turned out fine..healthy 10month old now...those tests have like a 90% false positive rate, most of the time the baby is healthy, your quad screen is not positive, it just means your at higher risk..for a number of reasons, ur dates could be mixed up or it could be a false positive, they say dr's really shouldn't say the test is a positive for, it's just a higher risk of..good luck...I know how devestating this is, just have faith and everything will be fine

V.,

I don't have any experience with this, but I wanted to let you know that my heart goes out to you. It must be so scary.

When I was a teenager, I worked in a nursery for severely retarded children. Many of these children were abandoned by their families and were wards of the state. They all wore diapers (even at age 20 or 30!) and most needed round-the-clock medical attention. It can be a very difficult thing to take care of a sick child. From my experience working with these children, I learned that if you make them comfortable (dry diapers, fed well) and happy (play games, sing songs, pay attention to them) then they can have a very full and enjoyable life. Their life is very different than a normal child's life - but they know joy and love and that makes it a very complete and fulfilling life.

So even if your baby is born with horrible disease - you can make your baby's life complete and enjoyable - no matter how short or long his/her life is. I wish you the best of luck with your follow-up tests and I will keep you and your family in my thoughts and prayers.

J.
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my experience with quad screen tests is that they are hogwash. Find out your risk factors for this defect (say 1 in 200) and find out the risk factor to the baby with the amnio. It can happen that the baby will not survive the test. I had a quad screen come back positive for downs and it was TOTALLY wrong. That stupid test is so sensitive that it needs to be done preceisly at a certain day in the pregnancy to be accurate. I opted to not have it done with #2 because I spent 20 + weeks worrying about a downs baby that was perfect all along. I also had to choose between amnio and being certain at a chance of 1 in 200 of losing the baby or downs chance of 1 in 200. I chose to have the ultrasound and that was all. After that they may be able to tell you more about the baby's health, it is pretty in depth. As you can tell I don't think this test is a great indicator. Too many false positives that I have heard of.

I feel so bad for you! I know it is awful because I've been there myself. No trisomy 18, but approximately the same outcome, and the same horrible choice to make. I could tell you more, but for now, I'd suggest sitting tight until you get the amnio results back. I'm not familiar with the quad screen, but if there's a chance it could be wrong... I'd say don't start agonizing until you're sure of the situation. PLEASE let us at Mamasource know when you get your results! We care.
W.