Soft Marker for Down Syndrome

WElcome to Share. I don't have any experience with this but wanted to let you know that I will keep my fingers crossed that everything comes out well.

Hopefully someone with some background will chime in soon.

Hugs,
Jackie

Hello and welcome to Share. I am so sorry for your previous loss and can only imagine how scared you are now. Unfortunately I do not have any experience in this area, but I just wanted to welcome you and let you know I will keep you and your little one in my prayers.

Take good care,
Yolonda

I am very sorry for this difficult time. I don't have any experience with this and I don't have much to add. I just wanted you to know I'm thinking of you and wishing you and baby the best.

Kristyn

Hi Kristy, Jackie

Thanks so much for your support and comforting words. I am hanging there though i haven't had any one who has had the same problems like mine. Wishing you all the best.

Stella

olivia had a soft marker for downs syndrome (dilated kidneys)on all her ultrasounds (i had 3 a day towards the end) and she doesnt have downs syndrome, turned out to be a duplex kidney xxx

im 32 weeks and on my 20 week ultrasound they found that my sons kidneys were dilated and told me not to worry, but didnt give me any information on why or what that could mean. I did some research and found out that it was a soft marker for downs syndrome, of course that worried me and made me lose sleep. They scheduled me for another us at 27 weeks, never called with the results. Just had my regular ob appt a few days ago and found out that the dilation had gone down to a normal size (thank God), but that his femur bone length was short. Again they didnt really give me any info on what that could mean even though i pretty much tried to pry it out of her. I came home and did some more research and come to find out it's another soft marker for ds. Im really freaked out now, and just cant wrap my head around it all. If he has two soft markers, what else could it be other than ds? Im really frustrated because no one has gone over anything with us about ds and our risk, and i feel like they're leaving me in the dark here. I'd really like to know whats going on other than "dont worry about it". Has anyone else's doctors given them the run around about it all? or anyone else had 2 soft markers and everything turned out ok?

Hello and welcome to Share. I am sorry that you are worried about your son. The unkown is very scary. Maybe you can schedule a consultation appointment with your ob where you can express your concerns. I dont know if they do amnio's for peace of mind, but maybe if you mention how the dialted kidneys and the short femur are soft markers for down syndrom and go from there. Hang in there!

Yolonda

hi my baby boy has 3 soft markers for ds, 2 cysts on the brain, a heart defect and is showing up small. I am currently 23 weeks pregnant and i'm going out of my mind with worry. has anyone else had these "markers" for their baby to turn out ok? I am going for a detailed scan on wed, and i am hoping they can give me some further information. i am refusing the amnio, as i feel the risk is too high for my son. Any information from anyone would be greatly appreciated, thanks.

Welcome to Share
I hope the scan gives you a clearer picture of your son. I have known people on here who have had soft markers and their children turned out not to have Downs. Also, I know people whose children had downs including the common heart defect and their children are happy and healthy.

Good luck and please keep us updated.
Ellen

Hi: Iame 32 year ,21 week pregnant with a girl .my dr. told me today my blood work is 1: 35 for DS and refer me to level 2 ultrasound which was normal and they didn't find any soft marks .Is any body have an idea about positive blood work and normal US as the risk of blood work is very high .

Welcome to Share. I know that people here have had positive blood work and children without Down Syndrome but I don't know how "positive" the ratio of their blood work was. Hopefully they will chime in soon. I just wanted to welcome you to share and let you know that people are here to support you, listen (people find blogs very helpful) and get away from everything in the community section.

Please keep us updated.
Ellen

Hello and welcome to Share. I had positive blood work and had level two u/s along with amnio (because I was 35 at the time of my pregnancy and both my husband and I carried the sickle cell trait) and my u/s was normal. There were no markers for Downs and of course the amnio only further confirmed what the u/s showed.

Take good care,
Yolonda

Hello, I just had my first ultrasound done for the IPS testing to test for down sydrome and other chromosonal defects...I was on cloud 9 to see my baby on the screen and to hear the heartbeat...however my world was crushed when the doctor called yesterday and said I had a soft marker on the ultrasound and that the baby showed a thickening on the back of the neck. I am only 11 weeks pregnant and have extreme anxiety and stress over this. Nothing was mentioned about m bloodwork being abnormal - just the thickening of the neck. I was wondering if this has happened to anyone else? And if so- is there still a chance everything could be ok? I am so early in my pregnancy and am only 28 yrs old. Down syndrome does not run in either me or my partners families. So i am just hoping to hear some good news that everything could still be ok. I have to go for a second ultrasound at the hospital next week for a more indepth look - and they have mentioned the amnio - but i am rly worried about this. I have been a complete mess since that phone call. I rly hope someone has some good news for me???

Welcome to Share. I think you are understandably scared. We all expect and deserve smooth pregnancies but you will find here that that is not so for most of the mothers here. I don't know if the initial blood work addresses Down Syndrome. I think you have to ask for extra testing or an amnio to find out, outside of the u/s. It sounds like you will learn more in the next u/s. It is always helpful to make a list of questions for your doctor for your appt and it is ok to show him that you are scared. You don't always have to pretend to be strong for them. Please let us know how the u/s goes. We will keep you in our thoughts and prayers.

take care,
ellen

Hi, I am 30 weeks pregnant and my got confirmation from a ultrasound that my baby shows two markers for DS,
1) absent nasal bone
2) small pinky
can any help me clarify my doubts, for the past days my mind has been lost and I like some of you need Help!

I am sorry but I don't know anything about DS markers from an ultrasound but I do know that with any medical condition it is best to call/ set up an appt with the doctor. Go in with your questions, ie how accurate are the tests, will this change his birth/delivery, what will happen right after delivery (sometimes special tests are done), will he go to my room or the NICU. These are short term/plan type questions. I would also call whoever is going to be your pediatrician to discuss at an appt what this may mean long term, whether their practice handles special needs children etc. It is all too scary for any mom but sometimes getting answers and a plan helps us to focus.
Please keep us posted.
Take care,
Ellen

I am 46 with with 4 healthy boys from 14 to 9. A recent surprise has me 5 months along. At the ultrasound everything was going well untill the doctor noticed a 7mm space. He would not tell me anything except to wait for the amnio. Whenever a doctor refuses to answere I am extremely concerned. My age and my husbands(50) make us very high risk to begin with. Any thoughts?

Hmmm.. I don't know anything about this, but wanted to let you know give you a shoulder to lean on when you need one!

Hugs,
Jackie

HI there,
I've just found out I have 4 markers - bowel, water on brain & heart, and short nasal cavity. Wondering if you have any advice? I'm assuming you got your results back? I have my amnio and another screening on Monday, so the wait is absolutely killing me.

Hi, I am 23 years old and currently 35 weeks pregnant. My baby has a two vessel umbilical cord. We have had no other soft markers of D.S. until my ultrasound today where I was showing with slightly elevated amniotic fluid levels and my little baby girl had a fluid spot on her brain. Does anyone know how this effects my risks for down syndrome? I could not have any tests done to assess my risk earlier in pregnancy due to terrible medical care and my current doctor is extremely reluctant to speculate. The best answer i can get from her is "yes it could be downs but nothing we have seen is conclusive so I am just telling you so you can be prepared if that does happen to be the case." please help! i am so worried!

I don't really have any experience with this but I do know of other people on Share that have said they have had multiple markers and the baby did not have downs. I will keep my fingers crossed that your story is the same.

Hugs,
Jackie

Welcome to Share. As with Jackie I do not have any personal experience with Downs but as she said there have been bpeople with multiple markers (esp ultrasound) that did not have Downs in the end. We will keep our fingers crossed. Please keep us updated.

Take care,
Ellen

Hi Everyone!

So comforting to hear everyone's stories. I'll say a little prayer for all the worried moms on here.

I am 30 years old pregnant w/ my first child and my husband and I are so excited! Then we took the quad screening and was told that we had a 1/55 chance of having a baby w/ DS. Still excited for the baby, but very very stressed and worried too.

Then we sort of got over our fear and just placed everything in God's hands. We were sent to get an ultrasound at a high risk clinic just to take extra precaution.

They found a soft marker for DS which was our babies head width. His head is wider than normal...but the Dr. still assured me that plenty "normal" babies also have wide heads. Which is reasurring, however no he says our risk is now 50%. I can't believe it went from 2% (1/55) to 50%. I'm just tired of getting bad news that I don't want to go back to the specialist for my follow ups anymore. I just want to enjoy this pregnancy and the next 4 months of my life until the love of my life is born and we can deal with whatever surprises he has for us. However I do want to make sure we're prepared. It's all just very confusing.

Does anyone have a similar story as mine? Positive quad screen and a soft marker during an ultrasound?

BTW, here's a link to my blog about my pregnancy so far if you're interested...

Good luck ladies

First 5 months of making a human in my belly

I haven't had a postive screening test - but I did have a soft marker (enlarged kidney - hydronephrosis) on baby A when pregnant with my twins. I was obviously worried - but at that time we had no other factors and we decided against further testing. I knew that we wouldn't do anything differently, however I did read up on things just to be prepared. When my twins were born at 29 weeks - they both tested positive for hydronephrosis and had to be monitored by u/s and eventually have a VCUG to check their kidney functions. This particular soft marker I learned is very common in boys (and of course in preemies). Every thing turned out okay in the end - but it worried me throughout my pregnancy. It did reassure me to know that soft markers are just that - soft markers - and that lots of people have them and go on to have healthy babies.

I think focusing on your baby is an excellent strategy. Try to enjoy this time in you life, and not worry about something you have no control over.

Linds

hi just had my baby on the 23rd of last month at 33weeks he was 4 pounds 10 oz and 18 in long. I did all the testing and they all come back negative and my ultrasounds where all normal nothing wrong with the little one and then all of a sudden after he was born they told me he as DS. im only 22 years old and it was not easy having the doc tell me that my son has DS. but i love him regardless I just have no clue what to do

I am so sorry that you were surprised with your son's diagnosis.
Hopefully some of the other mom's who have experience with this will chime in to give you some advice.

Welcome,
Jackie

Donia,

Welcome to Share. I am sorry that the diagnosis was a surprise to you. We would love to see a picture of your beautiful boy if you would like. Sometimes starting a blog helps you to journal, keep track of milestones and just let your feelings out. I don't have experience personally but I know that for a friend of mine the keys were very similar (we had our children at the same time) to having a preemie: ask questions at the doctors (come prepared with a list), contact early intervention services in your county (the pediatrician can help you with the number and make sure you are comfortable with your pediatrician. The EI people will follow your child and make sure that he gets in any necessary programs for therapy. Lots of our children have been in therapy and it sounded scary but was so helpful for everything from bottle feeding to talking to walking. I know this is so overwhelming as it is for everyone in your situation. For me I tried to take it one thing at a time, one day at a time even though your mind but can't help to flash ahead one, two, twenty years. For me, at first, day to day was all I could handle.

Please take care and keep us updated.
Ellen

I just wanted to encourage you all. I went into the doctors for my 20 week ultrasound and the tech was strangely quiet. When the doctor came in after looking over the pictures- he started off by saying that there were a couple of things that we needed to monitor. then he explained that there was a calcification on the heart and a cyst on the brain. these were markers for DS. I had not had my triple screen and so we would run that and see how it came back and that I would need to have another ultrasound in a few weeks to see how things were going. What?? A few weeks??? I felt nauseated and couldn't believe this was happening to my baby. I loved my baby and it wouldn't matter to me if she had DS- but I didn't want her to have to go through alot of challenges. I had previously miscarried- and to have this news only added to my stress. When my triple screen came back a few weeks later - it said I had a 1/3000 chance- but the specialist I had to see said that with the soft markers it was more of a 1/1000 chance. I was offered and amnio, but I refused since it had the risk of miscarriage. It didn't matter to me if my baby had DS- I still wanted her- so why take the risk of finding out and miscarrying. They took another ultrasound and the brain cyst had cleared up - but the calcification was still there. I said so many prayers- and had people everywhere praying for my little girl.
I had a very long and hard pregnancy with high blood pressure problems- and was induced 4 weeks early. When my baby girl was born- She came out Perfect. NO DS! She is a very happy and beautiful baby developing well and starting to talk and walk.
 I heard from alot of nurses during my pregnancy that doctors needlessly scare women with these results. I think that is the case many times. I hope for all of you that it is needless worry! For those of you with DS children- You are amazing and your children are precious!

After viewing a number of posts and websites when soft markers turned up on my daughters ultrasound, I wanted to share my experience in hopes of giving others some comfort.
My 18 week ultrasound, turned up two large choroid plexus cysts, two echogenic foci and a possible lemon or strawberry shaped head. My OB sent me for a level 2 ultrasound at a GTA hospital followed directly by a meeting with a genetic counsellor.
We had the ultrasound and the technician would not say much, but assured us the genetic counsellor would discuss all results with us immediately after the scan. In our meeting with the counsellor, the radiologist called in a verbal report on the results since there was not enough time between the scan and the appointment to provide the written report. The news was devastating. We had gone from having 2 very common soft markers to being told our baby had: an enlarged cisterna magna and cerebellum, nuchal fold at 6.7mm, ventriculomegaly, slightly lemon-shaped head and two areas in the heart that looked like there may be heart defects. The genetic counsellor told us based on these results there was a very high probability of genetic defects.
We had an amniocentesis the next day and scheduled a fetal echocardiogram the next week. It was the longest two weeks of our lives as we waited for all the results to come back. In the meantime, the radiologist finalized his report and when he did some remeasuring he decided there was no ventriculomegaly, and the cerebellum and cisterna magna were within the normal limits. This left us with potentially having heart defects, the two foci, the two CPCs and a nucal fold slightly over the 6 mm threshold.
All of the test results came back normal. A follow up ultrasound with a specialist in Toronto also assured us that there were no abnormalities on he could see. He said he sees thousands of CPCs and echogenic foci to the point he does not even report on them as they are not a cause for concern.
I gave birth to a healthy baby girl in October. She is almost 6 months now and continues to meet or exceed her developmental milestones.
It helps to remember these soft markers on ultrasounds are not determinative of a defect. And also that mistakes are sometimes made. I hope my story can provide peace of mind to someone in a similar circumstance.

Thank you so much for sharing your story with us! I am so glad that your little girl didn't face any challenges despite the scare with the ultrasound! I'm sure that this will give hope to other moms in the same situation!

Stacy