Downs Syndrome or Another Genetic Disorder

[babifever]

Just wondering if anyone has been told this, or received conflicting information, etc?

In my situation I was first told I had a chance our baby would have DS or another genetic disorder. This was based on NT Scan which revealed extra fluid behind neck. I believe it was like 3.0mm. We then got the Harmony Test, which came back all negative.

Well yesterday I go to get a Anatomy Scan at 16 weeks and a white spot was seen on his heart (Echogenic intracardiac focus). I was then told that regardless of the negative Harmony results, that it does not cover EVERYTHING (nor is as accurate as Amino). I was told this is now the second indication of DS or another Genetic Disorder.

No more determinations were made during the Anatomy Scan because he wouldn't fully cooperate and they said it was too earlier. I'm scheduled to go back in my 19th week. Amino was offered but I fiqure it's no use because we are going to keep the baby regardless.

 

[AnnieMac2]

Good luck. I don't have experience with this, but one of my friends did. I don't know the details of all the tests. For both of her first two children, a doctor said they had a 50/50 chance of having Down's and did they want to abort (!?). Both boys had some soft markers as well. They turned down the amnio. Oddly, neither of her sons ended up having any health problems at all. The doctor who gave her this info was very well-regarded as well. Things can still be ok And that's not to say things aren't ok if your baby does have DS. I know some fabulous children with it

 

[amelia26]

I had Harmony test and it gives odds for Downs and two other chromosonal disorders (trisomy 13 and 18 I think).

It's about 95% accurate I think but it didn't give a yes/no answer.
I got odds of 1 in 10, 000. So that's very low, but I guess if 10, 000 people get that result, 1 of them will have a child with DS.

Despite our low harmony results we were offered amniocentesis after issues were found with the baby's heart. We asked to talk to a genetics counsellor before deciding and she didn't recommend it based on our specific results. We were already leaning towards no so we're not having it done.


My baby's NT was 2.9mm btw

 

[babifever]

I had Harmony test and it gives odds for Downs and two other chromosonal disorders (trisomy 13 and 18 I think).

It's about 95% accurate I think but it didn't give a yes/no answer.
I got odds of 1 in 10, 000. So that's very low, but I guess if 10, 000 people get that result, 1 of them will have a child with DS.


Despite our low harmony results we were offered amniocentesis after issues were found with the baby's heart. We asked to talk to a genetics counsellor before deciding and she didn't recommend it based on our specific results. We were already leaning towards no so we're not having it done.


My baby's NT was 2.9mm btw

They didn't tell me the odds, they just said he was not likely. And I believe his NT was 3.0. It's crazy the doc seemed convinced the odds had heightened since the white spot on heart was found.

How far along are you?

 

[TTC First]

I don't know a lot about this however I do want to let you know that if you do complete the amnio then it will give the doctors an idea of what to expect when the baby is born. If there are any issues that they need to deal with right away, this will give them the heads up to be prepared.

Just something to think about.

 

[babifever]

I don't know a lot about this however I do want to let you know that if you do complete the amnio then it will give the doctors an idea of what to expect when the baby is born. If there are any issues that they need to deal with right away, this will give them the heads up to be prepared.

Just something to think about.

I'm not interested in amino at all, the miscarriage risk is not worth it to us. Especially being that we will keep baby regardless. At the end I guess he will be diagnosed when he gets here......

I really just wanted to know any similar stories. I have read there has been some false negatives with the Harmony, etc.

 

[Koifish]

I had issues and was sent to high risk after they did the nt scan. Both babies had abnormal nt measurements. I believe 3.2 and 2.8 but I cant remember off the top of my head. I went in for the high risk scan and they said the nt measurement was fine for one and just slightly off for the other. Both of them have grown "into it" as they put it and measure fine. I was asked to do the amnio but my doctor talked us through it first and asked us a series of questions. Based off our response/emotional response (the thought of miscarriage about made me cry), he said that I should not do it.

We otped for mat21 test and that came back and everything was super low and I was told I had no risk. I just recently had my anatomy scan with them and everything has measured out fine thus far.Which is where I differ from your situation.

I do know several people who have had abnormal nt measurement and other soft markers were told 100% the child would have downs or another issue and when born they were normal healthy babies with no genetic issues. Many of them did have test like mat21 or harmony done as well. The thing is they are not yes or no or guarantees that your going to have genetic issues they are ratios. They are known be more accurate ratios but still ratios so you have to keep that in mind as well.

 

[babifever]

I had issues and was sent to high risk after they did the nt scan. Both babies had abnormal nt measurements. I believe 3.2 and 2.8 but I cant remember off the top of my head. I went in for the high risk scan and they said the nt measurement was fine for one and just slightly off for the other. Both of them have grown "into it" as they put it and measure fine. I was asked to do the amnio but my doctor talked us through it first and asked us a series of questions. Based off our response/emotional response (the thought of miscarriage about made me cry), he said that I should not do it.

We otped for mat21 test and that came back and everything was super low and I was told I had no risk. I just recently had my anatomy scan with them and everything has measured out fine thus far.Which is where I differ from your situation.

I do know several people who have had abnormal nt measurement and other soft markers were told 100% the child would have downs or another issue and when born they were normal healthy babies with no genetic issues. Many of them did have test like mat21 or harmony done as well. The thing is they are not yes or no or guarantees that your going to have genetic issues they are ratios. They are known be more accurate ratios but still ratios so you have to keep that in mind as well.

All the tests were performed at a High Risk Doctor as well, because I'm diabetic. Also, the Anatomy Scan was considered incomplete. I will have a more clear understanding and results at my appointment on April 30 at 19 +2. At the first one I was too early at 15+6. I hate that even did it that early!

 

[amelia26]

I'm 20+5.

As Harmony gives odds rather than a yes no answer there is always the possibility of a 'false negative' although it is unlikely. If think you should ask what the actual odds were. You've got a right to know, especially if they are offering amnio

I understand your feelings about amnio as we felt much the same. I understand the benefits of knowing for sure and preparing yourself if they show a positive result, but we couldn't get past the miscarriage risk either.

It might interest you to know that the fetal medicine consultant strongly recommended amnio to us. I asked to speak to the genetics counsellor first and she didn't feel the abnormalities were ones that increase the risk of chromosomal disorders, so she didn't recommend it. I'm really pleased we had the chance to talk to her as we feel very comfortable with our decision not to get the amnio.

 

[kit10grl]

We had a high risk of 1:144 off of our NT testing. At that stage e opted for no amnio as we didnt want to take the miscarriage risk. At our 20 week scan a heart defect was detected giving us two soft markers for Down syndrome. We declined amnio again. we had much more frequent scans from then. by 32 weeks we had found 7 different soft markers for Down syndrome. We had an amnio at 33 weeks as by that stage its no longer a miscarriage risk, it changes to a risk of prem labour which was acceptable to us. Amnio was completly clear of all gentic anomalies, but like in your situation even an amnio cant possibly test for everything. After birth our daughter was diagnosed after several life threatening events with CHARGE syndrome. The ratio for this is 1:15,000. so yes it is possible that even though your test has shown a clear response for the major anomalies that there may well be another condition. There may be nothing but the result never claims to be 100% accurate.

 

[BlingyGal]

I was/am in a similar situation to you. High odds for DS (1:69) based on NT. Refused amnio but did pay for the Harmony test. Also spoke to a genetic counsellor.

Harmony results came back very low odds for DS and the other trisomies. We decided that was good enough for us. We're keeping this kid no matter what

The genetic counsellor was really helpful - she explained that the Harmony test is a highly accurate screening (not diagnostic) at 99% for Down. She did say of the 1% of cases incorrectly misidentified, most of those were false positives.

If you're still worried despite your test results, maybe research what it's like to raise a child with DS. There's some amazing, positive blogs out there about parents raising children with DS. It made me feel more ready to handle whatever cards we are dealt. Also, if you can, make an appt with a genetic counsellor, they really understand the science behind the tests and are much better at explaining it than a doctor.

 

[babifever]

We had a high risk of 1:144 off of our NT testing. At that stage e opted for no amnio as we didnt want to take the miscarriage risk. At our 20 week scan a heart defect was detected giving us two soft markers for Down syndrome. We declined amnio again. we had much more frequent scans from then. by 32 weeks we had found 7 different soft markers for Down syndrome. We had an amnio at 33 weeks as by that stage its no longer a miscarriage risk, it changes to a risk of prem labour which was acceptable to us. Amnio was completly clear of all gentic anomalies, but like in your situation even an amnio cant possibly test for everything. After birth our daughter was diagnosed after several life threatening events with CHARGE syndrome. The ratio for this is 1:15,000. so yes it is possible that even though your test has shown a clear response for the major anomalies that there may well be another condition. There may be nothing but the result never claims to be 100% accurate.

thanks so much for the information. Can you tell me a little about your disorders diagnosis?

 

[babifever]

Guys I have about 8 questions I've written down that I would like to discuss with my primary OB tomorrow. I will kept you guys posted.

Here are the questions I have. Girls, let me know if you can think any other pertinent questions:

What were the "odd" results of the my Harmony results? All I was told was "negative". Harmony doesn't give positives or negatives, it gives odds (from what I've read).

Has this office experienced any "false negatives" or have you heard of any "false negatives"?

What were the measurements for baby's NT? Anything after a certain measurement shows concern.

Was a nasal bone present? Apparently this is another indication in itself. It was never mentioned.

Why was I given a Anatomy Scan at 15+6? The time frame is 18-22 weeks. Especially when I was ultimately told it was too earlier.

The doctor said the next Anatomy Scan would give them a better ideal, and would confirm other indicators. What are the indications?

At this point should the doctor complete the ultrasound or a special sonographer, being that the echo was already spotted?

Should I be referred to a Genetic counselor at this point?

 

[Willow01]

How did you get on at your appointment today? Your questions all seemed very good ones to ask and I hope they gave you detailed answersx

 

[babifever]

Hello everyone, I went to my appointment today. It's a lot, so if you please could, click on my journal link on my signature and go to end of page 24.

 

[NicoleSarah]

I was high risk my first pregnany. MY NT scan was fine (1.7 mm) but my first trimester screening blood test gave me a risk of 1/83. I did an amnio and everything was fine in the end. I am now debating this pregnancy whether to do a an amnio or do a dna blood test and then decide.

 

[Willow01]

It's so difficult to make these decisions isn't it, it's hard because there is the risk with amnio but the blood tests aren't 100% accurate. You want to know but don't want to take any risks. I had 1-130 risk so had harmony and it came back low risk, so decided to stop there but if there was no risk with amnio I would do it just to be surex

 

[amelia26]

Personally I would always do the blood test first because I feel you have nothing to lose with that one. (Apart from money if you have to pay for it).
I wouldn't want to take the amnio risk if the Harmony results were very low risk.

It's such a personal decision though.

 

[babifever]

We decided to stop at the genetic screening as far as testing goes. I personally feel with the risk of amino -when your desicion is not to terminate regardless, is not worth it.

 

[PrMomma81]

I had all normal scans thru out the hold pregnancy. At 32 weeks they said the baby stopped growing they were going to monitor me so i had to go in every few days. At 35 weeks they decided to remove my son thinking it was my placenta not feeding him. So I was induced and they said all should be fine. He stayed in NICU 7 days due to low muscle tone he couldn't eat alone and he couldn't keep his body temp even though he was born in July. At 4 months he still wouldn't hold his head and doctors told me it was because he was premature. I didn't believe them and switched doctors. After months of running to doctors one sat us down and told us he believed our son had Coffin Lowry Syndrome but I had to send his blood to France from the US. Took 2 and a half yrs to get the results and it did come back positive. It was a hard diagnosis to swallow and its not a syndrome well known at all. But my son is now goin to be 15 and he is a special kid that everyone enjoys. It has been a hard road but we went through it. When i got pregnant with his siblings It was stressful wondering If they would have the syndome as well since it is a xlinked chromosome disorder. I decided to pass on any testing scared to get bad news or even worse put my baby at risk to do an amnio. I said no matter how they came out i would love them and cherish them. I told myself I was an ordinary person blessed to have this extraordinary being. He has helped me and my family grow and understand many things.