First Trimester screening came back positive for Downs Syndrome and I'm freaking out. Anyone else have test?

Question

I had my first ultrasound last week at 12 weeks and they also drew blood for the screening. I got a call today from the midwife who said my test came back positive for Downs Syndrome and Trisomy 13 or 18. She said I have a 1 and 14 chance of my baby having it. I'm only 27 and have done everything right. No one in either of our families has any bit or retardation or genetic problems. Why is this happening and is it a sure thing? Has anyone else had this test and had normal babies? I have to have further testing to see for sure but I need a little reassurance now. Help!

We are going for genetic counseling tomorrow.

Answer 1

hi!...first of all don't freak out! the triple screen test has an 80% chance of giving you a false/positive reading (I went through it 3 times with all my boys). once you see the genetic counselors they will probably want you to have a level 2 or high intesity ultra-sound. in this ultra-sound they are going to measure the fungal fold (kids with ds have a thicker fungal fold) and they will also measure the long bones of the baby (ds kids have shorter long bones) and they will look for congenital heart defects and intestinal defects. if they find any of these markers they will ask if you would like to have an amnio done..this is the only way to know for sure if your child will have down syndrome and which form they may have...such as trisomy 18 also known as edwards syndrome, and mosaic as well as trisomy 21.
I said the same thing when I had to go through all of this "have done everything right" no genetic problems in our family either...sweetie it is a roll of the dice! I have met women as young as 16 yrs old who have a child with down syndrome...it just happens. there is nothing that you did wrong!!!!!!
I also wanted to tell you that I am the mom to a 3 yr old with down syndrome...believe me I was scared in the begining too. but going through everything I have gone through with my son..I have to say I wouldn't change a thing about him...he is the light of my heart and my most precious of gifts! except for the therapies he is just like any other child. he may learn things slower in some areas, but he does learn them. and I am so proud of the accomplishments he has made in his short life so far. If your child has DS or not, I bet you will love them no matter what...that's what parents do.

Answer 2

The rate of false positives for that test is through the roof. I'm so sorry they have givin you such a scare. On the other side of the coin, my mom had the test and it came back saying everything was fine, neg. for everything, and my sister was born with Downs Syndrome. Now she's a happy 18 yr old about to graduate high school. I don't think those tests have much reliability one way or the other. BTW, DS isn't inherited or passed down through family, its just a genetic fluke. There is nothing you can do to cause it. Try not to worry, look at all the people who have gotten that same news and have healthy happy normal babies. and remember, God will never give us more then we can handle. Congrats on your pregnancy, and I wish you a happy healthy 9 months and a happy healthy baby at the end.

Answer 3

The tests are very often wrong. They have been proven to be 20% wrong or more.... much more is what I have seen. Some of our friends were told that their child had brain tumors and several other problems and probably wouldn't live through the birth. The tests were done over and over. Guess what? The baby girl was born perfect. We have known this to happen over and over to friends and acquaintances. Even if your child has Downs, you will still have a sweet child. I know several families with children with either handicaps, Downs or with learning problems and they are wonderful additions to their families. They will try to encourage you to abort but what if the child is fine? What if you will be a better person because you were blessed with a child with needs? Downs children are usually very sweet as long as the parents are not afraid to properly discipline and they treat them as you would other children. They have good schools for them and even job opportunities now. We have a local children's museum and they employ Downs and Challenged individuals and they happily serve customers and do their jobs well. They live full lives now. There are many different levels of Downs too. With some kids you can hardly tell that they have it and they are able to attend regular school. Don't be afraid of what might be the best thing that could have happened to the two of you. No child is truly perfect. Relax and enjoy your child. I will pray for you both.

Answer 4

Congratulations on your pregnancy and please do not freak out until you have some other testing done. I too received a positive result for Downs Syndrome in my last pregnancy. I had a healthy baby boy on March 10, 2006. . I was 39 when I was pregnant and the older you are the more at risk you are to have a baby with Downs.There are other test that you can have, but I chose not to have them as it would not change the outcome.

Answer 5

I also got a similar call on my 21st birthday when I was pregnant with my second daughter....they told me she had a positive test for spina bifida.

First you must know that the false positive rates on this test are very high....which means just because it is positive doesn't necessarily mean that your baby has it. After more testing it proved that my daughter did not have spina bifida and she is now a very healthy 4 1/2 year old.

But it never hurts to prepare yourself just in case. Read, read, read and read some more so that you know all about down syndrome and Trisomy 13 and 18 so you know what to expect just in case.

Sorry to hear you are going through this....good luck!

Answer 6

I am so sorry you are going through this! Try to focus on the positive, it is not a definite thing that your baby has down's syndrome. There are plenty of support groups out there for you as well. Just remember it's nothing you did and there's nothign you could do to prevent it. Unfortunately sometimes these things happen. You and your baby will be in my prayers!

Answer 7

No, you did nothing wrong, sweeite. It just happens. If they have trisomy 13 theres an extra chromosome in #13, same with 18 and down is I think is trisomy #21.
YES! my sister in law was told to think about aborting her baby, it will probably have downs. she decided not to and I now have a 10 year old healthy beautiful neice!
A good friend was told she had a 1 in 30 chance of trisomy 13 or 18. She now has a beautiful wonderful perfectly healthy little 14 mnth old named Adrianna!
sometimes even the tests are not done in exactly the right time, if they are off by a wk on your due date, the levels they are looking at look more off than they really are
also-the amnio could be harmful to the baby and you could hurt your baby and it could be perfectly fine!
try not to worry, say lots of prayers and wait.
I wish you the best of luck

Answer 8

That is several weeks early for that test. They don't usually do that until between weeks 15 and 20... you may want to ask why it was done so soon, it might make a difference.
Most people who fall in this risk group have perfectly healthy babies. I believe the rate of healthy babies is 80%.
There are factors involved that can increase the chances of a positive risk factor. I can't remember them all, but I know smoking or the wrong estimated gestational age can throw off the results. You can google AFP test and find out more info.

Answer 9

Stop beating yourself up. You are not to blame. These tests are not always accurate. No one knows why it may or may not be happening. Things happen. It's time for you and your significant other to sit down and talk about "what if". How expensive would it be to raise a child with Downs. Do you have support from family? Is there a professional support group in the neighborhood. Contact people with a Downs syndrome child and visit with them. Ask them questions. Research the syndrome on the net. Be prepared. From what I have heard, there are varying degrees of Downs, and they can be the sweetest babies in the world.

Answer 10

You can have an amneocentisis done to find out for sure. My ex-mother-in-law had this done and it came back correct. It's dangerous though. It's where they take out a small bit of amneotic fluid with a needle through your abdomen. There's a risk that you can go into premature labor with it.

Have you thought about genetic counseling? They can help you prepare for this type of thing. And even if the outcome is a healthy, normal child, no harm, no foul.