Trisomy 18 - New York,NY

I think that today's technology is a double edged sword--it can detect problems but scares so many women to death and robs the joy from their pregnancies. Frankly, I've had two friends (at separate times) who were told their babies were likely to have Down syndrome, and both delivered normal infants. Another was told about a genetic problem that did not materialize--I forget what it specifically was. The chances of a baby being healthy are greater than its not being.

Hi L.,

I did have a big scare. They told me I tested positive for Trisomy 18 with my third child (no issues with my first two pregnancies). A level 2 sono turned out to be inconclusive, so we opted for an amnio. The piece of mind from the amnio was absolutely priceless. After going through the mental anguish of the ordeal, I found out that the tests (specifically the AFP test) given to detect birth defects is extremely sensative... it can be affected by what you have eaten and the date at which you take the test. Meaning if you are off by a week in your calculations of when you got pregnant or if you miss your first appointment for the test and reschedule, this can greatly effect outcome of the test. Apparently, the AFP must be conducted in a small window of time or the results can be off. Needless to say, after the amnio came back fine, a load was lifted from our shoulders however, we still had worries until the day she was born.... and she was absolutely perfect.

Best of luck for your friend!
K.

Hi L.,
I had a false positive result come back from the Level 2 U/S performed to determine the risk factors for Trisomy and Down's. I had to have a CVS test done where they perform a procedure similar to an amnio, except for they go into the placenta a take placental fluid and then test the chromosomes. The results from the CVS came back completely normal, and my son was born in perfectly good health. I, too, had a very different pregnancy experience with that pregnancy than I did with the first pregnancy. Also, in a trisomy baby, they can see the baby not developing properly, so if your friend is going in for a CVS test (which I think happens around 14 weeks or so), they will be able to make a pretty strong determination while they are performing the test, which of course will be confirmed with the results of the genetic testing.

Best of luck to her, I know how she feels and have been through her exact experience.

I had the same experience after being screened for birth defects with my second child - she's now 9 weeks old. I opted for an amnio to know for sure. The results came back negative - the original screening was a false positive. I would highly recommend having an amnio done to be sure. I could not have made it through my pregnancy wondering every day if I was going to lose my baby. It was such a relief - after a horrible 2 weeks of waiting - when we recieved the results of the amnio!

Hi L.. I had a similar thing happen to me. During my 2nd trimester screen I was told that there was an increased risk that my baby would have Downe's Syndrome due to a larger than normal measurement of her nucal fold (a measurement on the back of the baby's neck). I really struggled with this and was in the office twice for an amnio and both times walked out without it. I didn't want to risk any complications (however rare they are) from the amnio and the results would not change that I was having the baby no matter what. After 20 weeks of not knowing I delivered a healthy baby girl. Alot of tests are inconclusive and I believe are more worrisome than good. Plus I later found out that the measurement was out of the normal range by 1 tenth of a millimeter!! How can you even measure that? While this is a very hard time for your friend, tell her not to give up hope, and if she wants to know for sure before the baby is born then go ahead and do the testing. Either way my prayers are with her.

L.,
Offer my prayers for your friend. I was told at my first ultrasound at 20 weeks that my baby had two indicators for down syndrome (calcium deposit in the bowels and cysts on the head), I was terrified. I had to get a level two ultrasound also and I ended up getting an amnio the day of the level two ultrasound because the indicators were still there. For days my husband and I cried waiting for the results and it came back everything was normal and on May 23rd I gave birth to a healthy baby boy.
I found out later on that many of my friends went through a similar experience. I think nowadays doctors are so afraid of a lawsuit that they are scaring moms to be to death so they don't get blamed for not telling you that "there may be a problem" with the baby.
Since I had the two indicators and given my age (33) the doctor said I had a 1 in 100 chance of having a baby with a genetic disorder, so that is why I opted for the amnio. If your friend wants to know for sure she should get the amnio.
Just be there for her because I assure you she is terrified. My prayers are with her.

I know of two people who had this same scare and everything turned out to be fine. Both ended up with healthy babies. Tell her not to let the doctors scare or pressure her.

Dear L.,

I actually have no experience with Trisomy 18, but I know what it is and how devastating it is for the family. I know you wanted advice but I just wanted to tell you I'm sending out prayers and positive thoughts to your friend and to you, because if it is the case that the baby does have it she'll need a good friend like you to rely on. I desperatly hope it's a mis diagnosis. A. B

My brother & sister in law's 2nd child was thought to have Trisomy 18. My sil had 2 amnios, first showed a chromosomal problem, the second came back clear. Not knowing which test to believe, they chose to believe in their hearts- and had a perfect boy who is 6yrs old.
My sil is not a very spiritual person, but she says she just knew that everything would be okay.

My prayers are with your friend.

http://www.trisomy18.org/site/PageServer?pagename=parents...

L.,

They also SUSPECTED downs and trisomy for my son, i also had low progesterone and bleeding.

we did the testing and the downs lowered by HALF and the trisomy only by 3 points.

my baby is the SMARTEST of all 3 of my boys.and no TRISOMY

DOCTORS DON'T AND WON'T REALLY KNOW FOR SURE TIL THE BABY IS BORN, EVERYTHING ELSE IS JUST SPECULATION,

m

http://www.trisomy18.org/site/PageServer

here is a site that i located with an abundance of information and support group. this should help. T.

PS I will be praying for your friend and her unborn child

My sisters Dr. told her that there was a possibility of Trisomy 18 as well, she went on to give birth to 2 healthy twins! No Trisomy, so there is hope!!! We will pray for your friend!

You don't say how many weeks your friend is. The only way to know for sure is with a chromosome scan, such as the CVS, (usually done in the 1st trimester), or amnio (2nd trimester). There are many things that can lead a doctor to suspect a trisomy, but chromosome scans will tell you for sure. I wish your friend the best. Come back and let us know the results.

L.,
I have had two friends who both got positive results on that test, and neither were true. One ended up being twins! That's why the levels were so high. The other was just false. I didn't even have the test done, because it comes out false positive a lot. Hope this helps,brings a little hope. Good luck to your friend.

a friend of mine was thought to be carrying a baby with trisomy 18 when his 19 week ultrasound revealed a sac of some sort in his brain. it was devastating to hear as they were told that if the baby did have trisomy 18, he would not survive. they had a second ultrasound a few weeks later (opted not to get an amnio) and the cyst had resolved... was nowhere to be found. they have a perfectly healthy baby boy today. i hope that this is what turns out to be the case for your friend.

we had a scare like that , but wasn't just a scare. our baby had trisomy 18 and was born full term with a great pregnancy. he was still born. our only option when we found out he had trisomy 18 was a late termination, basicly they drug you and stop your baby's heart and then you deliver. we couldn't do it. it was a very hard time for us, it has been 7 yearsand it still hurts. people who had miscarriages thought they knew what we were going through, but it's not the same. i hope your friend's baby is healthy, but it's not the end of the world if her baby has trisomy 18, the baby can survive. also, we had a DNR on our baby, that was a horrible decision to make, too. i hope all goes well

I really hope everything turns out for the best for you friend. I had a friend who's baby turned out to have trisomy 18, they ended up doing a late term termination. the dr. basically said the baby would not be compatible with life. be prepared to be there for your friend.

L., This must be a scary time for your friend. I hope she gets good news at her next appointment. I am a social worker at North Shore University Hospital where we have several programs. One program is to help patients & their families if they terminate or have a pregnancy or infant loss; and another one gives support to patients should they decide to continue their pregnancy even if there is a serious diagnosis or genetic anomaly. Please let me know if you or your friend would like more information and I can give it to you.