Playing the “waiting game”

July 24, 2014 in Diagnosis, Emotions

Did you decline invasive testing, but had a higher chance that your baby has Down syndrome? Many moms keep a “foot in each world,” wondering if their child has Down syndrome, but unwilling to take the risk of diagnostic testing. Many wish to prepare for the possibility so that they can hit the ground running if the baby has Down syndrome. Others ask their doctors to treat the pregnancy as if the baby has Down syndrome. Are you a waiting mom? What challenges has the not knowing caused you? What concerns do you have as you wait? Experienced moms who waited for answers, do you have any advice?

New non-invasive prenatal screening tests, such as the MaterniT21™, Verifi®, Harmony™, and Panorama™ tests, have also changed the “waiting game” for many expectant moms who can get a result that is now more accurate than previous screening tests (though false positives and negatives do occur). We are finding many who are using those results as confirmation for their pregnancy planning purposes without going on for an amnio or CVS. The amnio and CVS are still considered the most accurate (diagnostic) but also have a very small risk of miscarriage. In fact, one recent study showed that the percentage of women getting an amnio or CVS has dropped since the new tests have been introduced. What are your thoughts on how the new blood tests have (or would have) impacted the “waiting game” in your pregnancy?

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25 Responses

  1. Angel Dockendorf says:

    We decided to wait it out and not do any invasive testing. We had 2 ‘soft markers’ (a bright spot on the heart, and a bright spot on the bowel). I just didn’t want to spend my whole pregnancy worrying, and I didn’t want any risks with an amnio. Also, my OBGyn had a great way to look at it. She asked us if it would change the outcome of this pregnancy, we said no, so she said it really didn’t make a difference to the safety of my child if we waited until birth.
    I am very glad we waited. I felt like the Ds diagnosis was much easier to handle when I was able to hold my baby in my arms as I went through the process. I didn’t have to deal with ‘what-ifs’ when he was right there in front of me.

  2. Susanna says:

    Our baby girl was found to have an absent nasal bone and a major heart defect about halfway through my pregnancy. We did not follow up the ultrasound with an amnio, as we did not want to risk losing her. Since Down syndrome was the most likely explanation for both these markers, we just went with that assumption. We were glad to have had so many months to accept it and to prepare. When she was born, the grieving was all far behind us, and we were full of celebration!

  3. Elissa says:

    We decided to wait it out when we found out our “high-risk” (1:175) for Down Syndrome. I was more fearful of the amnio or CVS than I was worried about having a baby with Down Syndrome. We did find out that our daughter had Down Syndrome about seven hours after her birth.

    To be truthful, I feel like knowing would have caused more fear for me, and it probably would have consumed the end of my pregnancy. I was glad that we waited.

    I agree with Angel that holding her in my arms was the best thing for me when hearing the diagnosis as well as not dealing with “what-ifs”.

  4. Missy says:

    The whole story of my “waiting it out” can be found on my blog here: http://bit.ly/62thnG

    I can tell you that for me, not knowing in advance was totally the right answer. For other mothers, knowing in advance is the right decision.

    Even after I made my decision, I know there were times when I would waiver back and forth slightly if I made the correct decision. If that reminds you of you, I suggest you look at this thread over on the Baby Center Pregnancy message board – there is a lot of good information to consider: http://bit.ly/9QUZhI

  5. Karyn says:

    During a routine ultrasound the radiologist found a small bone in our daughters little finger and brought up the possibility of DS. Earlier we had a nuchal scan which came back normal so we weren’t worried.

    At another scan they identified her heart defect and told us that they were now 99% sure she had DS. I refused an amnio because I had lost several babies by miscarriage and didn’t want to risk her.

    So there was still a possibility that everyone was wrong until her birth. When I looked at her I knew she had DS but she was beautiful and really looked very much like her older sister did when she was born.

    Five years down the track I can say that if I knew then what I knew now I would have celebrated – told my friends and family we were going to face some challenges but they would be more worthwhile than we could ever imagine!!

    I didn’t have another child after her (she was my fourth) but the reason was fear of miscarriage. If the doctors could have guaranteed a live child with DS I would have had another for sure.

  6. Patti says:

    I journaled about this during my pregnancy here:
    http://babynumber10.blogspot.com/2009/10/popular-you.html
    I am glad we made the decision we did:)

  7. Katie says:

    I declined all testing, but I had a 3-d ultrasound to check for a bone abnormality that runs in my family to know whether to have a specialist on hand or not. During the 3-d ultrasound the tech noticed that Auriana had a heart defect, and also noticed she had no nasal bridge, thick nuchal fold, small arm and leg bones, kidney spots, and they thought she was missing parts of her brain. They originally told us that she would be born with Trisomy 13 or 18 and would die at birth…. the doctor said slight possibility we might get lucky and she have Down Syndrome instead and be able to live, but still she’d have a bad life and be “severly disabled”. I still refused amnio and told them that God was in control.

    I was hospitalized for over a month due to toxemia and pre-eclampsia. They advised me to “end the pregnancy…. I still refused. They told me that “this handicapped baby isn’t worth you damaging your kidneys and risking your life.” I continued my pregnancy. I was induced at 35 weeks when my body shutting down started affecting her growth. The doctor put an order stating that I was not to have a c-section even if the baby was dying. I ended up demanding a c-section when her heart stopped during the induction.

    That was 2 years ago! When the nurse finally came in and told me “we have some bad news…. your daughter has Down Syndrome”, I started screaming “Thank you God, Thank you God!!”…. that nurse had to think I was insane… but I knew that our prayers had been answered and our daughter would live! And that she does, every day, with the biggest smile ever on her little face!! I am so glad I trusted that God would take care of her. She’s had lots of medical problems, but she never ceases to amaze us and she’s almost always smiling! Such a blessing!

  8. Robyn says:

    We chose to pass on any testing, even the low risk blood tests that scanned for disabilities. When we asked the OB if there were any benefits to the baby to have the testing, he said no. I am glad I didn’t know until our son was born, because I didn’t have the chance to worry. However, I realize that if I did know, I would have requested more testing for health issues and my son would have been born at a different hospital. We had another child after our son with DS was born. We did not do any genetic testing, but we did have higher level ultrasounds to look for any health concerns that might be caused by DS.

  9. Jessica says:

    I had had a miscarriage, so I was nervous about amnio and CVS, and didn’t want to risk the pregnancy. After much thought and discussion with friends and family, I opted to forego any testing at all for DS. I wanted this baby no matter what. When I did the test for spina bifida, I specifically had them not do any additional tests for DS at that time either. (I only did the SB test because you can plan the birth for a safe delivery and surgery if necessary.) Even though there were a few soft signs for DS on the ultrasound (a spot in the heart and one in the liver), and despite my “advanced” age of 36, I put DS out of mind. The first time I heard it again was the morning after my son was born and the pediatrician came in and said they suspected he had DS. I was upset and worried, but only for his health and well-being, not because he was “defective” in any way. The first time I held him in my arms after I found out, he was still the most perfect little boy I’d held in my arms in those moments just after he was born, and he continues to be that perfect boy to this day 18 months later. I would make the same decision again for him, and will for any future children, as what I want more than anything is to be a mother. If I get another child with extra needs, well, that’s just more love I will get to shower on my babies, and I don’t see anything wrong with that!

  10. Sandy says:

    My son’s femur measured behind by about a week for my entire pregnancy and it was the only soft marker. His nuchal fold was “perfect” according to my OB; and although my quad screen signaled a chance for DS at 1/250, my OB told me the stat was skewed because of my age — 38.

    Since the baby didn’t present with any markers (my OB believed the femur was not related to DS, but instead to my short stature, 5’1) and I’d had 2 previous tubal pregnancies and a miscarriage, we decided to wait it out. In the months leading up to the delivery, on several occasions I’d wished we’d gone through with the amnio, because I just wanted to know…definitively. All the uncertainty was difficult to be with. Imagine my surprise when my son was born and I’d been right about DS, and not my OB with 30+ years of experience delivering babies. In hindsight though, not knowing about the diagnosis prenatally allowed Lucas to grow and thrive in a healthy, stress-free environment for my entire pregnancy, which was completely uneventful.

    Choosing to play the waiting game is such an incredibly personal decision, but my opinion is that if you feel you HAVE to know…then find out so if the baby has DS you can educate yourself and prepare as well as truly enjoy the birth experience. Either way, know that you will love your baby — DS or not — more than you can possibly ever wrap your head around!

  11. Dawn says:

    We had 1:12 odds based on bloodwork. At 18 weeks I had a level II ultrasound and no soft markers were seen. As a previous poster wrote, our OB also asked us if knowing would change the outcome of our pregnancy. We knew we would not terminate. Based on some other things (2 vessel cord, which is often associated with heart or kidney defects; shorter femur length on 30 week ultrasound; her movements were “off” to me) I told myself in the back of my mind that it was a good possibility our little girl would have Down syndrome, but looking back now, I know that I was able to enjoy my pregnancy. We declined the amnio after the level II ultrasound.
    Even though we knew there was a good chance, I won’t lie: it was still a shock at birth, I just figured we would have a typical, healthy baby. But we fell in love with her immediately. I bonded with her the second I saw her, whereas with our older daughter it took quite a while.
    It is a personal choice, but I am glad we didn’t know. We had a great family vacation a month before her early birth and I thoroughly enjoyed my pregnancy. I think for me, knowing ahead of time would have been too much stress for me and her and she may have been born even earlier.

  12. Debby says:

    I am a mom in waiting. I am waiting it out with 1:10 odds based upon a thickened NT measurement (3.9) and bloodwork results at my 12 week scan. At my 19 week anatomy ultrasound an EIF spot was found on the heart, the lateral ventricle measurements were high and my amniotic fluid was too high. At 26 weeks an ultrasound noted a dialated left kidney. We are a Catholic family and are not comfortable with any risk to our child’s life so therefore declined the CVS and/or amnio that was offered.

    A foot in both worlds is really what it is. My major challenge is how do I prepare? Emotionally one day I am convinced my son does not have Ds and the next day I am convinced he does. Do I tell my other children? What if we are worrying them for nothing? Will my baby be able to go to the same childcare center as my other young son? How do I reserve a spot not knowing? If he can’t go where will he be able to go and will I be comfortable with that child care center? How will I handle delivery day? Will he be ok? Will the first thought that crosses my mind be does he have Ds? Will I be ok if he does have DS, will I be shocked, will I be disappointed? Will the doctor’s and nurses know and be sensitive to the situation? Also not having the testing leaves the doubts in everyone’s minds so everyone is convinced everything is fine and I feel like no one else in my everyday life validates my concerns.

    On the other side of the spectrum the days when I doubt that he does have Ds do bring me a certain sense of respite from the worrying.

  13. christina says:

    This is my first attempt at looking at DS websites. I caanot tell you all how helpful it is to read what you all have posted, so I thank you. I had a 1/62 based on my bloodwork at 13 weeks. We had no other markers but decided we needed to know and so at 16weeks had the amnio which told us our son has DS. For me, mentally preparing and educating myself was very important. This is my first child and have no idea what to expect. it was very stressful at first but not knowing would have driven me crazy. Also i have a lg family and I wanted them to know to get used to the idea as well. It was really helpful to read how alot of you loved your baby right away and it the end it didnt matter.

  14. I am currently 20 weeks pregnant with my 5th child and was given a 1:5 risk based on my age (41), the nuchal scan & 1st trimester bloodwork. I had my 20 week scan last week and two more markers were evident (echogenic bowel and enlarged kidneys). I have another scan in two days with the perinatiologist. We’ve decided to forego amnio and it is a very strange place I find myself in at the moment. I think I’ve accepted that we will have a baby with DS, but my DH is of the opinion that we won’t know until we know and so it isn’t something he chooses to discuss. Interestingly, I had a baby last year and the nuchal scan was not available at that time. Last year I declined all blood tests and although it was in the back of my mind, I had a relatively stress free pregnancy. This year, the nuchal scan was offered and I accepted – it seemed so easy and since I was 40 last year and it all worked out, I thought it would be nice to have no lingering doubts this time around. DH now wishes we’d never had the NT test – would the sonogropher have found the additional markers if she didn’t know my risk was 1:5? Her attitude towards me completely changed once she had that information and she became quite efficient and business-like rather than affable and friendly. DH simply doesn’t want the stress today – not when it isn’t certain. He’d rather enjoy the pregnancy and find out later. The midwives & doctors have all been very supportive of my decision not to have amnio, but I do feel like I am now a high risk pregnancy (scans every four weeks, frequent trips to the OB). I live in the UK (though am American myself) and this level of treatment is very unusual under the National Health Service. The one good thing about knowing my risk now is that I have had a lot of time to connect with other women who have babies/children with DS and it has encouraged me a great deal. I am still scared (more about my own inadequacies, but also about the long term health issues for my son) but I feel hopeful at the same time that this will all work out for the best. We’ve chosen not to tell out other children for now and tell other people selectively (We’ve told our parents, closest friends and our vicar). We definitely have a foot in both worlds!

  15. Natalie says:

    I took the Verifi test. I wouldn’t have done any invasive testing, but it would’ve killed me not knowing for 5 months! I am so glad that I received our diagnosis with months to plan, prepare and research. I know I am so much better able to prepare all that I need, not to mention our hearts have been opened to this. I think receiving a diagnosis at birth would be so hard because you have to go through a mourning period, and who wants to do that with a new baby in hand?

  16. HannaC says:

    I am in waiting. I am 20 years old, 20 weeks pregnant and have been given the chance 1:8 of my baby having DS from my blood work. It’s scary. There’s no history in either my husband or my history. And we are both very active and fit. It’s frustrating but we believe God will deliver us a healthy baby and if he/she has DS we will love that baby no matter what.

  17. Dominique says:

    I’m 22 pregnant w my second child I’m 20 wks my blood test reveled I was high risk for my child to be born w ds they haven’t given me any ratios yet just a follow up appt. to double check. I’m so scard I’ve been researching all over the web since I got the news 6-24-13 and every web site is helpful however I am panicking :-( please someone advice is really needed

  18. Stephanie says:

    The hands-down best people to talk to are Missy on the BabyCenter Down Syndrome Pregnancy board and, of course, a genetic counselor. However, please try not to worry too much about the results of a blood test because those are probability scores that are in no way definitive. For more information about Down syndrome itself, you can go to http://www.lettercase.org for a free digital book.
    http://community.babycenter.com/groups/a14515/down_syndrome_pregnancy?
    All our best to you, and please let us know if you have any further questions.

  19. Melissa says:

    I’m in the waiting game right now – got the call yesterday that the quad screen shows i have a 1:6 chance for baby to have Down’s. 16 weeks pregnant & wondering why I had that stupid test, and yet grateful to have the time to “prepare” if needed. We’ll have a level 2 US next week & possibly the MaterniT21 test. No amnio, the risks, although slight, aren’t something I’m comfortable with. And then we’ll wait & see, read & learn, and welcome baby with open arms in June. The only benefit to the testing is that our small town hospital will need to be bypassed for big city hospital if baby has any needs it cannot meet during/after delivery

  20. Kristin says:

    We were informed yesterday that we had a 1:110 chance of ds. This is our second baby and we just hit 20 wks. I went in for the level II ultrasound today and I’m hoping the techs are right. They couldn’t find any markers so my odds are now 1:306. Even though I’m 32 and our daughter is way smarter than both of us, my husband couldn’t forgoe the blood work test. There’s no way I could do amnio. I have a severe phobia of needles, to the point of not getting the epidural with the first baby. In about ten days or so we should get the results. They say the results are 99% accurate. I know for me it changes nothing. Feelin the baby kick and roll around makes me happy. I can’t end that just because it might be hard to care for the baby. I don’t know if my hb feels the same. I honestly don’t want to ask. Not out of fear of him saying it does but more for the fight that would entail if it’s not necessary. Honestly I think not knowing would be too hard for me and leave too many questions at this point. Had I never heard we were high risk it wouldn’t even be a thought.

  21. Todd says:

    We got sent to a high risk doc because our 20 week US was showing constriction in the bowels and measuring 3 weeks small. We went yesterday to the high risk doctor and there were 2 spots on the abdomen and we were told 2 things. First thing was our daughter would have to have surgery shortly after birth to open the blockage in the small intestine. The other thing was that this is marker for DS. We asked if the tests would change any outcome and were told no as many of you mentioned above. We refused to have any tests done to “know” our chances as we are having our child no matter what the outcome. We really don’t want to know especially if it is any invasive type of procedure. We went through this before with my 7 year old son and they told us he has TB and will be wheelchair bound for life. He has neither of the above so much so that he played tackle football this past fall. I wish in a way that DS wasn’t even mentioned at the appointment because that is all I can think about. My wife is calm overall and is more concerned of where she will have to deliver our daughter or where our daughter will have to go for surgery and care. Main reason is because all of the places are over an hour from our town.

  22. Noritah says:

    I am 41 and pregnant with my first child. I had noninvasive testing for birth defects a few days ago. I received a call today from my doctor that I have a 1 in 7 chance of a DS baby. Very overwhelmed, but trying to be positive. I am going to review with my doctor my options in a few days in person. Worried about anything invasive because of my age. Prayer is all I can do now. I really wish I opted to not have the testing, so I wouldn’t worry so much…

  23. Melissa says:

    I had posted above – we did receive a confirmation of T21 via MaterniT21 testing. While there have been days I’ve wished I was blissfully unaware, I consider it a huge blessing to know. Our little guy has had at most, one soft marker at any ultrasound. I think if our only look was the anatomy scan, his diagnosis would have been missed, and we would not be able to do everything possible to get him here safe & sound (including giving birth at hospital 1.5 hrs away from home, instead he’d have had to be lifeflighted after birth if needed any special care at all, from rural hospital). We’ve opted NOT to have an amnio, due to slight risk, so we’ll know for sure at birth (1% or so chance that the NIPT is incorrect), but we’re planning to welcome a little boy in June, who happens to have Down syndrome. I was an “it won’t change anything” prior to testing, and I know that while it hasn’t changed our plans & hopes & dreams for this little boy, it has given us the opportunity to be prepared & advocate for him even before birth

  24. Liz says:

    We’re in the waiting game. I’m 37, and 16 weeks along with our first child (IVF after four years of TTC). The NT scan measured 3.9mm, giving us a 1:7 chance of DS. I had a scan this week with a specialist, who found no major heart defects or soft markers. We aren’t comfortable with amnio or CVS due to the small chance of miscarriage, but were thankful to be able to go ahead and do the Harmony blood test. Awaiting results next week (we hope). My husband is confident that we have a healthy baby boy on the way; I’m mostly at peace, but definitely grieving even the possibility of DS. We know that we will deeply love this child either way, but it’s a tough weight to deal with after trying for so long to conceive in the first place.

  25. Cindy says:

    I am in a very similar place. We were told 1 in 4 chance and then had the panorama blood test. We have been told that our baby girl will most likely (99.9% chance) be born with Down Syndrome. While there are days I wish I hadn’t done any testing, I’m grateful for all of the care we can plan for to make sure her medical needs will be taken care of to the best of the doctor’s ability for what we know. I have declined any invasive testing for fear of miscarriage and it doesn’t change the outcome of the pregnancy. I was even told that the false positive rate was .03%, so it’s as close to diagnostic testing as we can get until we have her in our arms.

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