Down Syndrome

Updated on June 08, 2009
K.B. asks from San Diego, CA
10 answers

I had a first trimester ultrasound since I will be over 35 when my baby is born. They checked for all chromosomal deficiencies and all my tests came back normal. I recently had my second trimester ultrasound and my doctor has told me that I need to be re-tested because they couldn't find the nasal bone or the umbilical cord attachment. I've looked these both up and they are huge markers for Downs Syndrome. Has anyone else had this happen where you get a negative test and then a positive later on?

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answers from Las Vegas on


My first son was born when I was 32. My AFP test was normal but one of the later ultrasounds showed some of the markers for downs. I can't remember exactly what (it was 6 years ago). I opted to skip the amnio because I would not have aborted my baby and the chance of miscarriage from the amnio was greater than the risk of downs in my case. For the record, my son does not have downs. He does have autism but that is an entirely different issue and one you wouldn't find on any prenatal test.


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answers from Honolulu on

Do you mean you had an amniocentesis?

Per the physical abnormalities they found at your 2nd trimester ultrasound... I would think it needs to be reviewed by a specialist... or have an amniocentesis if you did not have one.

That is what I did. I was over 35 with my first pregnancy... I had an amniocentesis.. .and ultrasounds. At one point, during the ultrasound, they Doctor said something was wrong with my daughter's heart. We then were referred to a Pediatric Cardiologist, who gave me a more intense ultrasound... and he then found my daughter's heart was fine. She was then born fine and totally healthy/normal. BUT in tandem with this, I had had an amniocentesis... which ALSO confirmed, that my daughter was fine, afterall.

You need to do what you need to do... even if that means more testing. They should have also had you meet with a genetic counselor... that is routine with genetic testing.

I know it is nerve-wracking... but do what tests are recommended... the Doctors are doing their job and following up on any findings that they are not sure of. And it should be discussed with you, and you and Hubby in turn have to discuss it together...

I don't know what tests you are referring to that you had done... you said they checked for all chromosomal deficiencies and all your tests came back "normal." The Amniocentesis is usually done almost near the 2nd trimester, if I remember correctly. To me, this is the most conclusive "test" to check for chromosomal aberrations. An ultrasound will not necessarily pick up these aberrations, and the clarity of the Ultrasound depends on the position of the baby, the shadows etc., because it is all in black and white, and it looks at the physical development of the baby... versus, the amniocentesis analyzes the GENETIC "DNA" make-up of the baby.

All the best to you, discuss any questions with your Doctor...

2 moms found this helpful


answers from Los Angeles on

I have to agree with Susan! There are so many tests and so many things that you could be experiencing. It is always best to address these issues directly with your doctor.

1 mom found this helpful


answers from Los Angeles on

Hello K., sorry you are dealing with this. Being pregnant is a challenge all on its own. I had the AFP test done, with 2nd pregnancy, I was 26, they sent me to counselling for downs. I figured that if my baby was a downs baby, nothing would change. so I did not go for more testing. You need to do what is right for you. When he was born, he was not downs. He was just 9lb 4oz, So, needless to say I have not done another AFP Test on the other 4! Good luck and relax.



answers from Los Angeles on

My labs all came back normal as well, but at the second u/s the radiologist found some abnormalities. I had to see a high risk MD and a genetic counselor. those were the hardest few months ever. Baby was born and he is perfect!
i will be praying for your baby and you. Try not to believe everything online. I know it's hard; we read that our baby would have downs. He is now 12 months old and happy as a clam.



answers from Los Angeles on

HI K.,
I have not had any of the procedures done yet, but I was just given a booklet by my doctor yesterday on the various tests and have read extensively on the subject in all my pregnancy books. From what I have read there is an ultrasound that can be done at a perinatologist's office that measures the neck of the baby to determine if the child has down's syndrome. From what I have read it is very accurate and not as invasive as CVS or Amnio. I would request for your ob/gyn to refer you out to a perinatologist just so you can get some peace of mind from someone who specializes in this area.



answers from Los Angeles on

Hello K.. I haven't had any experience with this personally, but I wanted to offer you some comfort. When I was pregnant, I was in an online group (called March 2009 babies) on This site was nothing but a group of us who were all due in the same month. We used the site to talk about things going on with our pregnancies, and since we were all due in March, we were all pretty much experiencing the same things. That said, I read a TON of posts related to this exact situation. 9.9 times out of ten, each mother said she got a false positive, for lack of a better phrase. Basically, there was a lot of scaring going on, but nothing ever came of it. My thoughts and prayers are with you and your family. If you have a chance, check out the website, find a group of mommies who are due the same month you are, and enjoy some great friendships and advice :)



answers from San Diego on

Hello, I wish only the best for you and your baby. Our youngest grandchild was born with Down's Syndrome almost a year ago. Let me say that she has been a true blessing for our whole family. Our other granchildren are totally in love with her and we all can't get enough of her. My other daughter and I co-babysit, alternating days. I can't wait for my days. Everywhere we go with her, people are drawn to her. I would never say I am glad that she (or any person) has been born with this cross to bear, but I can't imagine loving her any more if she didn't have Down's Syndrome.
We were told that many people have experienced a false/positive from various tests. I know that when our daughter was in her early stages of pregnancy, there were questions about some of her tests, then later her sonograms and measurements of the baby's stomach and femur and such indicated that she had a 90% chance of having it. She never went for the amnio. She felt that if this child was going to have this, she was meant to be.
Good luck with your precious little baby. There are many parents and grandparents out here willing to talk about this.
K. K.



answers from Los Angeles on, and Say Goodbye to Illness by Dr. Devi Nambudripad.

Be well.




answers from Las Vegas on

Hey K.,
I am not sure if you are still looking for more feedback but I am giving it anyway. I have 3 healthy girls, the youngest of which is 18 months. I had the AFP test with the first 2 but opted not to bother with the 3rd. The reality was, I was having a baby-Down's or no Down's.
Relevant to your question, with all 3 of my kids the tech told me the nasal bone was not defined. My youngest had an irregular heartbeat at 20 weeks gestation so we went to a neonatal peds cardiologist who did another (albeit more in-depth) ultrasound and was again concerned that the nasal bone was not seen. In the end - no Down's. I was told by my OB/GYN that the odds of an AFP false negative for abnormalities were about one in 100,000,000. I like those odds.
Being pregnant is not fun for me because I constantly worried about all the things that could go wrong. Everything that seems normal could possibly not be normal and everything that seems abnormal is just fine. Its so confusing. Take care of you. The baby needs you healthy. I wish you luck and hope that you are worrying a little less. (but I bet youre not) :)

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