Many moms keep a “foot in each world” by declining invasive testing even though they get a screening test showing they have higher chances of having a baby with Down syndrome. They are left wondering if their child has Down syndrome/Trisomy 21, but do not want to take the small risk involved with diagnostic testing, such as an amniocentesis or CVS. Many wish to prepare for the possibility so that they can hit the ground running if the baby has Down syndrome. Some ask their doctors to treat the pregnancy as if the baby has Down syndrome. Others simply move forward with there pregnancy without being too concerned.
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.
See Also: Monitoring Your Pregnancy Post-Diagnosis chapter in our book, “Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome.”
Amy Julia Becker’s book, “What Every Woman Needs to Know about Prenatal Testing,” also explores new advances in prenatal testing technology, the ethical implications of testing, different reasons for testing, and how prenatal testing impacts the author from a faith-based perspective. Amy Julia is also the mother of a daughter with Down syndrome and the author of “A Good and Perfect Gift: Faith, Expectations and a Little Girl Named Penny.” Amy Julia’s target audience for “What Every Woman Needs to Know about Prenatal Testing” is pregnant women who have not yet undergone prenatal testing or those who plan to start a family. She explains the range of prenatal tests for Down syndrome (and other conditions) in language that is easy to understand and then explores the reasons why different women may or may not choose to take tests. The approach is informative and balanced — exploring the different practical and ethical issues at hand. Amy Julia has followed up the release of her book with a series of blog posts from women sharing their different perspectives on prenatal testing, including one from our “Diagnosis to Delivery” co-author Nancy Iannone:
Reflections from parents about how they felt about waiting for results, why they chose different testing/screening options, and how they felt about their decision:
From Angel, talking about why she was glad she decided not to undergo an amnio after soft markers were found during her ultrasound:
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 OB 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 Down syndrome 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.
From Susanna, describing how the ultrasound showing an absent nasal bone and a major heart defect allowed her to prepare for and celebrate her daughter’s birth:
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!
From Elissa, explaining how she was glad she didn’t know for certain until she held her daughter in her arms:
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. Holding her in my arms was the best thing for me when hearing the diagnosis as well as not dealing with “what-ifs”.
From Missy, sharing her blog post about “waiting it out” and describing why she’s glad she made that choice:
The whole story of my “waiting it out” can be found on my blog: Yo Mamma Mamma! A Little History of My Pregnancy with Violette…. 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 “To do amnio or not” thread over on the BabyCenter Pregnancy message board – there is a lot of good information to consider!
From Karyn, discussing how doctors strongly suspected Down syndrome after identifying a heart defect and how she wishes she would have celebrated more and worried less:
During a routine ultrasound the radiologist found a small bone in our daughters little finger and brought up the possibility of Down syndrome. 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 Down syndrome. 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 Down syndrome, 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 Down syndrome, I would have had another for sure.
From Patti, sharing her personal blog post and appreciation for her decision to wait:
I journaled about this during my pregnancy at A Perfect Lily: Popular You. I am glad we made the decision we did!
From Jessica, saying she decided not to undergo an amnio because of previous miscarriages:
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 Down syndrome. 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 Down syndrome 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 Down syndrome on the ultrasound (a spot in the heart and one in the liver), and despite my “advanced” age of 36, I put Down syndrome 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 Down syndrome.
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!
From Sandy, talking about how she had soft markers indicating a possible Down syndrome diagnosis during her pregnancy, but she declined further testing and felt a range of emotions:
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 Down syndrome 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 Down syndrome, but instead to my short stature, 5’1) and I’d had 2 previous tubal pregnancies and a miscarriage, so 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 Down syndrome, 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 Down syndrome you can educate yourself and prepare as well as truly enjoy the birth experience. Either way, know that you will love your baby — Down syndrome or not — more than you can possibly ever wrap your head around!
From Dawn, describing how she’s glad that she didn’t know for certain before her daughter was born and feels it allowed her to enjoy her pregnancy more:
We had 1:12 odds based on bloodwork. At 18 weeks I had a level II ultrasound and no soft markers were seen. 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.
From Debby, sharing all the questions she faces while waiting it out and trying to prepare:
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 Down syndrome 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 Down syndrome? Will I be ok if he does have Down syndrome, will I be shocked, will I be disappointed? Will the doctors 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 Down syndrome do bring me a certain sense of respite from the worrying.
From Christina, explaining how she ultimately decided to have an amnio to know for certain:
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 16 weeks had the amnio which told us our son has Down syndrome. 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 large family, and I wanted them to know to get used to the idea as well. It was really helpful to read how other parents loved their baby right away, and in the end it didn’t matter.
From Katie, talking about how her husband wishes they hadn’t undergone screening to find out about their higher chances and worry, but she says she’s grateful for the time to prepare and get better healthcare:
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, and first 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 Down syndrome, but my husband 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. My husband 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. My husband 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 Down syndrome, 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!
From Natalie, talking about how non-invasive prenatal testing allowed her to plan, prepare and research before her son’s birth:
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?
From Hanna, describing how it feels to be a younger mom waiting it out with higher chances from a screening test:
I am in waiting. I am 20 years old, 20 weeks pregnant and have been given the chance 1:8 of my baby having Down syndrome 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 Down syndrome, we will love that baby no matter what.
From Melissa, explaining how she’s glad she was able to get non-invasive prenatal testing so that she could prepare for the birth of her baby and advocate for him:
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 and wondering why I had that stupid test, and yet grateful to have the time to “prepare” if needed. We’ll have a level 2 ultrasound next week and possibly the MaterniT21 test. No amnio, the risks, although slight, aren’t something I’m comfortable with. And then we’ll wait and see, read and 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
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 and hopes and dreams for this little boy, it has given us the opportunity to be prepared and advocate for him even before birth
From Kristin, explaining the turmoil of waiting and wondering and how the more accurate noninvasive tests were a good option for her because she doesn’t like needles:
We were informed yesterday that we had a 1:110 chance of Down syndrome. This is our second baby, and we just hit 20 weeks. 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. Feeling 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 husband 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.
From Todd, describing how it feels to be a dad waiting it out and the stress caused by the testing:
We got sent to a high risk doc because our 20 week ultrasound 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 Down syndrome. We asked if the tests would change any outcome and were told no. 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 had TB and would 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 Down syndrome 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.
From Noritah, saying she wishes she would have undergone noninvasive testing because she feels overwhelmed and worried:
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 baby with Down syndrome. 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.