Questions & Answers

Hello, I went through this last year. I was 40 and at my 12 weeks scan my babys nuchal fold was 9mm. My bloods also suggested high for downs, and was given a 1:2 chance. I went to London to have a CVS test, didn't hurt at all, just like an itch inside your tum you cant scratch, and also an hour long scan. My little girl did have downs, that wasn't the problem for me. She also had very severe heart problems and was told she wouldn't have made it to term. My partner and I made the heartbreaking decision to end the pregnancy. Still heartbroken. I'm now pregnant again exactly a year after I conceive my little Poppy. To be honest I hope my baby is healthy, but if downs comes up again and the baby has a chance of survival, i'll continue. Sending you lots of love and support. xx

I am opposed to something invasive like amnio because 2% just doesn't seem worth the risk to me-2 out of 100 women lose a potentially healthy baby just to do the test. I don't like that. I think the more in depth screening mentioned in a previous comment and the additional blood test if covered are enough to tell you the severity if anything at all is abnormal. You will know how much research you should do-those scans are really amazingly detailed. Best of luck, keep us posted!

Thinking of you mamajay...*hugs all around you*!! I know how difficult it is to think something could be wrong with your little one. I am thinking of you! xoxo

(continued) come to terms with what you and your baby are facing. There are alot of options for therapy in early infancy with Downs to improve their quality of life later on. It also gives you time to educate your family about what to expect and how to handle your baby. I used to be a medical assistant and ive seen many varying levels of severity with Downs. Even if you have the amnio, and even if it comes back positive, that doesn't necessarily mean your baby will have a severe case of it. You just dont' know until they are born. But preparing yourself with information and education ahead of time can't possibly be a bad thing! I believe its far better than wondering whats going to happen when the baby is born and then possibly facing something you haven't prepared yourself for. Do the amnio, get yourself educated and then look forward to your baby's birth with joy :-)

I went through this with my first pregnancy, when i was only 24. My AFP test came back positive and an ultrasound showed a hole in the baby's heart, which is a common side effect of Down's. I decided to do the amnio because i wanted to be prepared when he was born. The idea of not knowing until the actual birth what i and he was facing, was not appealing to me! The actual statistical risk of miscarriage with amniocentesis is only about 2%. The doctors have to tell you the risk is there to cover all their bases, but it rarely happens. It was a scary procedure, but it was quick and when it came back negative for down's with my son, i was glad i did it. I would have worried for the entire pregnancy otherwise. Even if it had come back positive, i would have still been glad i did it because it would have givin me time to prepare mentally and emotionally for what was coming. I would strongly advise you do it! If it comes back positive, you have time to educate yourself and come (continue)...

I was against all testing till they told me my baby has a chance of a hard life so I hope he doesn't buy ill always love him and so will his daddy but I have thought about getting test so I could know and study and get everything I need I want to thank you all its alittle scary hearing such news

Before or after testing you might be interested in reading www.kellehampton.com She didn't know her daughter had Down's until she was born; she wrote a book called Bloom but her blog is equally beautiful. I think she has a place where you can contact her on her blog to discuss as well. She has two other kids without Down's as well so the nice thing about her perspective is she understands what it's like to experience the shock and unexpectedness of the diagnosis.

I agree with the others that you can have performed what is called "cell-free fetal DNA testing" which just tests your blood. Here are some FAQs about it: http://www.ucsfhealth.org/education/cell-free_fetal_dna_testing/

My personal decision, currently, is not to test for any sort of aneuploidy like Down's. I might talk to my doctor about it though and I might change my mind!

(continued) trying to get pushed into the testing to be covered by insurance. It is basically an optional blood test that you cant get done. It cycles down the blood all the way down to the fedal DNA to test it for downs. It is about 95% accurate. It is not as perfect as the amnio but it is a great way to know, or get piece of mind. My husband and i have blue cross blue shield and they covered the test completely, so you can contact your insurance and see what they have to say. Luckily our baby girl got a clean bill of health thus far. The MaterniT21 came back negative on the three things they test for and all of her measurements were perfect! She is now due in the next 3-6 weeks, July 24th, and we are so excited and happy to meet her!!!

Mamajay101, I went through this just a few months ago with my baby girl. I was petrified when my OB called me and said that my quad screening came back abnormal for down-syndrome. My hubby and I were very strongly against the amnio test.....the doctors even told us that the amnio was usually done by people who, if it came back positive they were prepared to just terminate the pregnancy altogether. Either way we were going to keep and love our little girl no matter what....she is our first child and no matter what the outcome she was our baby. Our other options were to have her closely monitored by specialists every 6 weeks with an in depth ultrasound where they look for key markers that could pinpoint possible downs. We had four of these appointments and every single time her bone, head, organ, and spinal measurements were coming back perfect. During one of our visits we also had them draw my blood to run the test called MaterniT21. This is a not so new test that they are (continue)

*hugs* we're all here for ya mamajay. I'd imagine getting that news was pretty difficult for you and your partner. However, the test is optional. My husband and I talked about this before we even got pregnant, because I knew i didn't want that done. We decided that if the baby had downs, he had it. From what I've read there's not much you can do about in the womb anyways, so knowing for sure or not wasn't really necessary for me. we decided if our blood test came back saying there was a high chance, then we would study up and be as prepared as we could be, but obviously it would be a challenge. I guess I would advise you to read up on the risks and benefits of the test, and finding out more, so you and your partner can make a decision you're both comfortable with, and not one you feel you need to make even though it scares you. You know you'll love your boy no matter what, and that's the most important thing to be sure of. :)
Much love and prayers!!