Wednesday, April 25, 2012


I've been putting off writing this post but I have a lot on my mind and it's good to just get everything out. At our 20 week scan the Dr. found a 'bright spot' on our baby girl’s heart also called a calcium deposit. This does not affect her heart at all but it is a soft marker for down syndrome. The Dr. stressed that my risk is so low for DS that he is not concerned and they typically go away before the baby is born. When he first told me I was in absolute shock and he didn't give me time to process the information before going on with his day. I walked out to my car and cried while I called my husband. I'm so thankful to have such a supportive husband who calms me down and makes me see the positive of everything. I was too upset to go back to work and went home to process everything.
I decided that I did want to see a specialist and frantically called the Maternal Fetal Clinic. I was in tears and they amazingly had an appointment the next morning at 8AM. I happened to have the day off from work to celebrate my birthday so I jumped on the appointment. Derek decided to take the day off from work to be there with me. The appointment from start to finish was over three hours. The specialist told me that everything looked great and the baby was 'beautiful'. She jokingly said that she sees a lot of baby's that aren't beautiful. My chances of down syndrome went from 1:7,000 to 1:3,500 because of the spot, which she compared my results to an 18 year old.

Most normal people would be satisfied with the confirmation from the Dr. but I still couldn't get my brain to shut off the thoughts about our baby girl having downs. I met with a genetic counselor yesterday where she went over my risks again and gave me two options: The amnio test or a Maternit21 blood screen. I know I was going to turn down the amnio because the risk of miscarriage. I've never heard of the Maternit21 test and was excited to hear my genetic counselor tell me that it's very accurate, she said over 99%. The results will take 10 business days so I'm anxiously waiting for my results. I really want to enjoy my pregnancy and not worry anymore. I pray this test will put my mind at ease.

MaterniT21 is Sequenom's prenatal test for trisomy 21, or Down syndrome. The test operates by sampling free DNA in the mother's blood, which contains some DNA from the fetus. The proportions of DNA from sequences from chromosome 21 can then indicate whether the fetus has trisomy in that chromosome. In a randomized controlled trial of 1,696 pregnancies at high risk for Down syndrome, the test correctly identified 98.6% of the actual cases of Down syndrome (209 out of 212), with a false positive rate of 0.2% (3 of 1471 pregnancies without Down); the test gave no result in 0.8% of the cases tested (13 of 1696).[10] The test can also give an indication of whether trisomy 18 (Edwards syndrome) or trisomy 13 (Patau syndrome) are present, though the accuracy rates have not been determined for these cases as they have been for Down.[11]
The primary advantage of MaterniT21 over the other major high accuracy tests for Down syndrome, Amniocentesis and Chorionic villus sampling, is that MaterniT21 is noninvasive.[10] Because amniocentesis and chorionic villus sampling are invasive, they have a chance of causing miscarriage.[12]

On October 17, new non-invasive prenatal testing for Down syndrome launched. We understand that this is an issue of both interest and concern for families, and we hope the following information will help.
The test was launched by a company called Sequenom, based on research funded by Sequenom and published in Genetics in Medicine documenting the results of its trials. Dr. Brian Skotko, who was not involved in these studies, was kind enough to summarize this research for the Down syndrome community, and his notes include the following:
- a “positive” test means that there is a 98.6% chance that the fetus really does have trisomy 21
- a “negative” test means that there is a 99.8% chance that the fetus really does not have trisomy 21
- approximately 0.8% of patients were not able to receive a result from the test because of insufficient genetic material in the blood sample

- available early as 10 weeks of gestation
- about 10 day turnaround
- $1500-2000 to insurers
- max person will have to pay is $235 out of pocket


  1. Scary scary... praying that you get a negative test result, Irene. No matter what, you will be okay.

  2. I'll be praying for you...10 days must seem like an eternity, but I pray they fly by and you get a negative result!

  3. Always keeping you, Derek & baby A in my thoughts/prayers! I know everything will be ok. You will find out soon enough how perfect your baby girl is :-) Only what, 7 more days now? It will fly by.


  4. Not sure if you're still around or not but I was wondering how you and your baby are doing? And if the MaterniT21 test was accurate for you?

    1. This comment has been removed by a blog administrator.

    2. Hi! Everything is wonderful, M21 was accurate and Audrina is healthy and thriving. :)