Sandal gap soft marker for Down's

angiet727

At my 19 week second ultrasound, I got the great news that I'm having a baby girl! Everything seemed to look ok but two reported concerns. Her left foot appeared to have a sandal gap. Not only that I was told the her index finger on her right hand looked like it was "missing" as my insensitive doctor described. I am an ICU RN and how this was presented to me was in my opinion inappropriate and insensitive. I asked her well could it be possible that she is bending her finger, or stretching her foot? And she said yes it is, and started telling me that I should have bloodwork done (the maternti21 test) and that I need to schedule an appointment with the high risk doc in maternal fetal medicine to do level 2 ultrasound, because the sandal gap is a soft marker for Down's. She offered the invasive testing but I declined. I'm crying at this point; to hear that there may be anything that would compromise the health of my baby is devastating.

I'm 28 and this is my first baby. Is there anyone out there that is having a similar experience? I have many friends and families with babies and this sort of thing was never concerning. I feel very alone. Id like to add that my significant other is more than supportive, and he and I will love this baby no matter what. I just wish I had another person who can relate.

rklinge0

I didn't have a sandal gap. But at 27 weeks they said my baby had fluid on the brain and short long bones which could be a soft marker for downs. I am currently less than 3 weeks from edd.
I too refused the testing. From what I read is that downs has the most false positives and false negatives. Some drs push for the testing because it is a money maker.
Try not to stress too much. They just may make you have monthly u/s with a specialist until they rule it out. But make sure you like the specialist, if not switch. I had a bad experience with one and my new guy took the time to listen and actually answer my questions. He also took the time to reassure me because I was told 4 different diagnosis. So he helped rule some out.
I will be thinking of you.

angiet727

Thank you for the reply. What diagnosises did they give you? How stressful that must have been to get 4 different diagnosises! I've been reading a lot too and it seems even the moms who report high risk for Down's ends up being false positive. Which btw I've read that the docs are not supposed to advertise the materniti21 tests as positive or negative. Because it's a probability. That day at my ultrasound, she told me it was 99% accurate. And this is false info. I know that this is a relatively new test and some insurances won't even pay for it and she's a young doc no doubt wants to make money, (her people skills and bedside manner are terrible), so that thought has crossed my mind also, med school is quite expensive and she undoubtedly has student loans. One of my coworkers is facing the same issue with her. So idk. I told the nurse I realize that this is a possibility in every pregnancy, but I don't want to see that doc again. We go to see the MFM doc on the 26th, I will feel better once I see my baby again. I will be thinking of you too. Obvi I don't know if you're religious but I will still pray you and your baby.

rklinge0

The mfm said he can't rule out downs until birth. He didn't feel it was very likely. But for me downs was better than the other things that they were telling me, 2 diagnosis were death syndromes for my baby. We are proceeding at time of delivery with a small possibility of downs. It wouldn't change how I deliver anyways.
I am sorry you are going through this. Its just scary with the unknown, hopefully the mfm can be more reassuring.

mrsbelladoyle

I was told at my 20 week ultrasound that my babe had his right pinky curved in. They couldn't get proper views of his heart or face so I have to get a level 2 ultrasound this week and my midwife drew some blood to be sent off.
I totally understand how you feel...husband and I will love this baby no matter what but to be told of these possibilities makes my head spin.
Much of my reading has revealed people worrying for nothing- and I read that 18% of people have a curved in pinky and nothing else wrong.
For now we will wait and pray for our precious son.
Keep us updated and I will too

angiet727

Rklinge0: I am sorry you are going through this also. Thank you so much for your response, it makes me feel not so alone. Do they think your baby might have 13 or 18? Or is it something else ? Is this your first pregnancy?


Mrsbelladoyle: both of the tips of my Pinkies are curved in, so are my sisters, so are my fathers, and we are all Down's free. Yes it's the waiting that kills. It seems like such a huge difference just knowing these answers would make in our lives. I just can't wait to find out for sure, but it seems like you won't unless amnio and actually birth. One of the nurses at work was 35 when she had her son and because of her age, they had her going for lvl 2 ultrasounds on the regular. She told me they are really cool to see because you can see everything. So that part made me excited. My ultrasound at my regular OB was really terrible. We could see her kidneys , heart and brain were normal, but she was moving so much there are no real clear pictures. And they didn't send me home with the one of her supposed sandal gap. I was told that the regular ultrasound they do at the OB office can detect critical anomalies, so if there is something smaller and hard to see i. E. Certain heart defects it will be able to be seen on this lvl 2 ultrasound. So we wait. And make sure u read the link at the bottom about the materniti21 test. My OB advertised this test wrong to me, but if you look on ACOGs website you will see that that OB docs are not supposed to say the test is positive or negative, because the results come back as a probability. I was told it is 99% accurate. How can something be 99% accurate If the result is a probability?? Come on. I just wanted to tell you incase you get a OB like the one they've been putting me with. Good luck to the health of yo and your baby and keep me posted also.

https://www.downsyndromeprenataltesting.com/your-maternit21-test-is-never-positive/

rklinge0

This is my 1st pregnancy and the same age. They had brought up trisomy 13 and 18 but my ob had ruled it out because those babies tend to have organ defects and we have had seen none. The second mfm also said that wasn't what he would have said either.I have been told downs and dwarfism. But my mfm said he didn't think dwarfism was likely.

angiet727

@rklinge0 do you have cases of dwarfism in your family? I was under the impression that this is a genetic ordeal. I just got my maternit21 test back which was negative for 13,18,21. So it was really a relief. They claim its 99.8% accurate, but I've read about one woman who's said it was neg, but her baby did indeed have DS at birth. I guess she's apart of the 0.2%. My nurse said no abnormal chromosomes were detected on this test when I asked her the probability (materniti21). She did tell me however that she has seen one false positive. She also suggested that I still go see MFM and do the lvl 2 U/s only for reassurance for me because she knew how worried I was. A part of me doesn't want to go, but the other part wants to see. I think I will proceed. You will be giving birth any day now!!! You will be in my thoughts. Id like to know how it goes for you!

rklinge0

Thanks, they are inducing midweek. So I will have sone answers. But dwarfism is genetic but as I was researching, 80 percent have normal size parents. So that was a little shocking.

angiet727

Yeah I just read that about the 80% normal sized parents. But I remember from biology that it is typically inherited as a result of one of the parents being a carrier of that particular dominant gene. So that's why I was wondering if you or you spouse were known carriers. It appears not based on your response, and it is an extremely minute chance that this could just happen as a mutation on its own. I suppose anything is possible, but it seems like quite a long shot. I've read about people who have had short long bones in utero and didn't have DS. In fact, one of my coworkers daughters had an issue with large nuchal translucency measurements, and got the whole possible DS scare and nothing came about of it as her baby was born with typical chromosomes. Then you hear about people who had no markers whatsoever, and their baby has DS. It leads me to not have as much faith in all these tests. Pregnancy sure can be stressful for a mother wondering the outcome and health of her beloved child. I have found greater faith in knowing I can't control this outcome.

You had earlier mentioned that they said the baby had fluid in the brain. Did they diagnose your baby with hydrocephalus?

rklinge0

@angiet727 baby was born this morning. It looks like d.s.

mrsbelladoyle

Tiny update- according to my blood work my chances of having a baby with ds are 1 in 20,000. ..
But in any case I go for my ultrasound on Monday. So they can get their missed views of heart and face and check on his pinky. I'll let you know how it goes.
It's been hard to wait so long...but I love this little kicker so much.

PlainJane8350

He'd probably kill me for telling people this, but my husband's feet have that gap and he does not have Down's. I haven't asked his mom about it, but they didn't do as many scans then as they do now. I did ask him if he was born like that or if shoes had somehow done that to his feet, and he said that they've been like that as long as he can remember. Side note, we also did all of the genetic blood tests that we were offered. Completely unrelated to his feet, though!

angiet727

@rklinge0 congrats on your new addition! How do they test for that at birth? I haven't read that far into yet. I know they're are lots of support groups and many people alike that have children with DS. But I'm sure you've read. It eased my mind just visiting those sites.

My maternit21 came back negative for DS, but we went to MFM anyway to see the baby again. The doc said she didn't have a sandal gap and everything looked typical to him. All 10 fingers and 10 toes, measurements of vital organs and long bones typical. This MFM also said the sandal gap is the "softest of the soft markers" and he had told me if he saw that he prob wouldn't have even mentioned it to me.

@rklinge0 Are u home yet? Did they have to keep you and the baby longer? Hope you are feeling well.

rklinge0

They chromosome test when she was born. We don't have official diagnosis but the facial features are pretty consistent with downs. Once I saw her it was pretty evident. We got home but we did spend some time in nicu due to a few small health problems and her not latching or taking a bottle. So that was the hardest part was not being able to hold her.
The pediatrician in nicu actually told me she wouldn't have thought anything with the extra fluid, mild ventricular meglamolmy and was surprised thats why they even said it. I guess at least that way it wasn't a complete shock.
I appreciate you checking up on me.

mrsbelladoyle

So after my scan they have determined that everything is normal. His hands look normal. So even though they had me talk to a genetic counselor and some other doctor and be at the hospital for like 4 hours....All they said is "he is completely healthy and fine."
All that stress and worry for nothing.
If anyone else is reading up on soft markers and such...big emphasis on the soft part!!

angiet727

Yes def big emphasis on soft part, but still. When you hear something like that and to add all those hormones and instincts how could it not bring stress? I think practitioners in this field have different practices when it comes to these sort of things. It seems the older more experienced ones wouldn't mention some soft markers, while the less experienced ones want to tell u everything, with small regard to pregnancy emotions. At least from what I've experienced and read.

@rklinge0 glad to hear you and the babe are home and she must be doing well if you're home and nicu free! Have they gotten the chromosome results back yet?

rklinge0

We won't get those back for 2 to 3 weeks. It will basically confirm it and tell us what kind she has. Basically there are 2 main kinds and one would be something that was underlying in our genes. If that's the case we will definitely have to think a lot about having a second child.

whitlwright1231

I just found this thread. We also have had a soft marker for Down's. Echogenic focus, it's a calcium deposit in one of the heart chambers. We did testing today to be sent off. Called a qnatal? ...... Who has had this happen to them ?

PlainJane8350

I haven't had this happen to me, but I read that calcium deposits are common and usually disappear. I'm sure you can find plenty of stories on this site, but I'd specifically search for "success stories" as to not worry yourself any more. Thinking of you!

*shira*

rklinge0 said:

We won't get those back for 2 to 3 weeks. It will basically confirm it and tell us what kind she has. Basically there are 2 main kinds and one would be something that was underlying in our genes. If that's the case we will definitely have to think a lot about having a second child.

@rklinge0, I just sent you a private message to say hello. The odds of it being a hereditary form of DS are very low, if it helps. The vast majority of DS cases (like probably 95%) are totally random.

cbolton19

whitlwright1231 said:

I just found this thread. We also have had a soft marker for Down's. Echogenic focus, it's a calcium deposit in one of the heart chambers. We did testing today to be sent off. Called a qnatal? ...... Who has had this happen to them ?

I found this thread too (I think from your post based on what I searched). Our little girl has this as well. We found out Friday. We are scheduled for another ultrasound, but I think we will decline any bloodwork. It is making me worry, even with all of the good stories.