My ultrasound showed a soft spot on my baby's heart which could indicate downs syndro

[A home for their hearts]

I am about 18 weeks pregnant and went in for a routine ultrasound on Thursday. I was completely caught off guard when my doctor said they saw a soft spot, whatever that is, which could be a marker for downs syndrome. My doctor order a quad screen and said that if it indicates high risk he will send me to a high risk doctor for another ultrasound. He also told me that if I wanted to go ahead and go whatever the quad screen says he would send me. I couldn't even think of any questions to ask I was so shocked. He said because of my age, I'm 31, the chances are low that it is downs syndrome. My dh isn't handling it well. He has been doing way too much research on the internet. He's afraid of all the implications this could mean. I just don't know what to think. I'm not sure if I should worry, but I am anyway. My dh and I don't even have a place where we can talk. He was layed off in September so we are living with my grandparents. We have no time to ourselves at all. I'm hit on and off through out the day where I just want to cry but can't because I have no privacy. We have decided not to say anything to anyone until we know for sure.

 

Has anyone had an ultrasound with a soft spot on the baby's heart and they were fine? From the little bit of research I've done, this markers aren't that accurate.

 

Please keep us in your prayers.

Edited December 12, 2009 by A home for their hearts

[Tammyla]

:grouphug::grouphug::grouphug:

 

Prayers

[Jen500]

:grouphug:

[Friederike in Persia]

Sorry all of this is coming together for you :grouphug:

 

From what I remember about these markers from my university days (some time back now), they really aren't that accurate.

 

God's peace,

[Jennifer in MI]

:grouphug: That's so tough.

 

I've also read that those tests are highly inaccurate. I think a lot of ultrasounds pick up things like this that cause the parents a lot of unnecessary worry. I did have a friend whose 20 week baby had a marker for DS (I think it was bone size - maybe?). Anyway, ends up it was nothing. Babe was completely fine!

 

I'll pray for you and dh. Could you go out to dinner or coffee one night to be alone?

[Karenciavo]

:grouphug: My ds7 has 2 markers for Down syndrome (heart defect and Simian creases) Doctors scared me, but he's fine - he's better than fine. Lots of prayers though, I know it's nerve-wracking :grouphug:

[Tree House Academy]

When I was 19 and pregnant with ds10, I had the AFP test done and it came back with an indication that he would have downs. We worried the whole pregnancy and he does NOT have downs. He was fine. Those kinds of tests are NOT always accurate. I pray for God's peace within you.

[Ottakee]

:grouphug:

 

Can your grandparents watch the kids so you and dh can get alone--to a coffee shop, take a drive, etc?

 

I know many of these tests are highly inaccurate. My friend at church had an ultrasound and the high risk doctor wanted her to terminate as they felt the baby had a genetic disorder that would be fatal by 12 months old. Well, Abbie is now a wonderful little 15 month old with NO special needs at all.

 

That all said, if the baby does turn out to have Down Syndrome the child will be a delight and challenge---just as any other child would be. I have 3 special needs kids. One functions about the level of most kids with DS and one even lower but they are a true delight.

[amy g.]

I declined all genetic testing except for an ultrasound. My 20 week ultrasound did find a white spot in one of the chambers of the baby's heart.

 

I was seeing a specialist in the Houston medical center because there is a history of birth defects on my husband's side of the family.

 

The doctor said that with the spot on her heart, and my age of 43, she still had less than a 4% chance of having Downs. He was right, and she was born completely healthy.

 

I'd try not to worry TOO much.

[jg_puppy]

My cousin was told the same thing with her last baby. She was born completely normal and everything has been fine.

 

Jan

[OHGrandma]

My granddaughter, Sophia, is 2 months old and perfectly healthy and does not have Downs. At her ultrasound about 20 weeks, she had 2 markers for Downs, one of which was her heart. She also had one enlarged kidney. The ultrasound markers for Downs picks up a lot of false positives. Unfortunately that causes a lot of unnecessary concern for many, but does help to watch further development.

[OnTheBrink]

Awww, try not to worry. Stress isn't good for you or the baby. Praying that all goes well with the upcoming appointments.

[Melinda in VT]

:grouphug:

 

The not-knowing is so hard, isn't it?

 

I don't have experience with that exact issue, but we did have a pretty dire prenatal diagnosis with our last child. The doctor essentially left us with no hope of survival past birth and strongly encouraged termination.

 

I found the boards at community.babycenter.com to be extremely helpful. I was able to read stories of many others with our diagnosis and track their end results. It gave me confidence that there was more hope than the doctor indicated, and armed me with the knowledge to request the appropriate follow-up tests. (I find the organization of the boards to be a bit frustrating, but once you get over that learning curve, the boards are great.)

 

As others have indicated, odds are that your baby is absolutely healthy.

 

You'll be in my thoughts.

[Chris in VA]

"To meet the greater challenge, He gives the greater grace."

 

:grouphug:

[elfgivas]

:grouphug:

 

i am so sorry you are dealing with this.

 

are there any other markers?

 

did they recommend an amniocentesis? that would be definitive.... (it does come with an increased risk for spontaneous abortion though). that was the route we took, and the amnio did not show a genetic abnormality.

 

:grouphug:

ann

[melissel]

:grouphug::grouphug::grouphug: They found this during an ultrasound when I was PG with my DD7, and she did not have Down Syndrome. I'm sorry you're dealing with this. Melinda is right--it's the not knowing that is the hardest part. I remember talking to someone about it at the time (I can't remember who, though!) whose father-in-law was a pediatric cardiologist, and he had expressed frustration with tests and markers like those, because there's just so much we don't know about human development in utero that he felt it was almost pointless to scare people in that way. That made me feel a bit better at the time :grouphug:

Edited December 12, 2009 by melissel

[Kathleen in VA]

When I was 19 and pregnant with ds10, I had the AFP test done and it came back with an indication that he would have downs. We worried the whole pregnancy and he does NOT have downs. He was fine. Those kinds of tests are NOT always accurate. I pray for God's peace within you.

 

This happened to me, too - twice - and both babies were born completely healthy.

[caryn]

Hi Stacy,

 

You and your husband are in my prayers.

 

Caryn

[MariannNOVA]

:grouphug::grouphug::grouphug:

 

Thoughts and prayers and I know how difficult it is NOT to worry. We had two scares when I was pg with the twins - one scare for each baby. Turned out to be NOTHING!!!!!! They were and are both PERFECT!!!!!!!

[Imprimis]

Please try not to worry too much. My dd had two soft markers for Trisomy 21 (Down's)---a thickened nuchal fold and hypoplasia of the fifth digit. The perinatologist I was sent to was not very reassuring---even after an amnio should no genetic defects. He kept insisting baby could still have heart problems, and they had me coming in for repeat ultrasounds to "watch" her heart.

 

Well, long story short, after a bit of a worry-filled pregnancy, my precious Christmas baby was born with absolutely NO problems of any kind, and she is a healthy, smart, funny, almost 6 year old today.

[mom to 3 boys & 1 girl]

I am so sorry you are going through this!

 

When I was pg with Katie, my AFP came back with an increased risk for Downs. I had an ultrasound and they found one marker, her kidneys. We decided not to have the amnio. Katie was born with larger than average kidneys but not with Downs.

 

I agree with the other poster, the worst part is not knowing what is going on with your little one. I hope that you and your husband can find some alone time soon.

 

:grouphug::grouphug::grouphug:

[Dawn in OH]

I'm sorry. But as a few others said, the test isn't accurate. Your baby could be perfectly normal. Don't get worked up over it.

 

:grouphug:

[tdeveson]

There are too many false positives with these markers to get too upset over. And if all he found was one marker, well... I'm not going to tell you not to worry about it because you're going to do that anyway. Get whatever further screening will calm your nerves.

 

That being said, a child with Downs Syndrome is not a catastrophe. The fact is that none of our children turned out exactly the way we envisioned them. The two children I've known with Downs are sweet, delicious cuddle-bunnies who are consistent sources of joy to their parents, siblings and everyone that they come near.

 

I know how this sort of thing can eat away at you. Last time I was pregnant, my first ultrasound showed an empty sac. The midwife told me it looked like a blighted ovum. She suggested waiting a few to see what would happen. My blighted ovum is 10-years old, skinny as a rail, and eating me out of house and home.

Edited December 12, 2009 by tdeveson

[KatherineNaomi]

I'm so sorry you're going through this. They've found scary things with all my pregnancies (thickened nuchal fold, low amniotic fluid levels, choroid plexus cysts twice) and all my babies were born perfectly healthy. I think these tests cause so much more worry than they do help. I know you'll still worry but please be hopeful that most likely everything is just fine. :grouphug:

[Starr]

This is your baby. You'll be fine when the little one is in your arms. I also refused all genetic testing except one ultrasound and I was 40. Both babies were just fine. I'll be praying for all of you. I would be sure of what use any more testing would be before I had any more done. It's been 16 years so I am not up on the latest.

[TammyinTN]

Praying for you and your precious babe. After three very bad miscarriages and stress of a high risk pregnancy we have a very healthy 11 3/4 year old boy.

[Guest janainaz]

:grouphug: Hang in there!

 

I also declined any testing because A) doctors are OFTEN wrong and B) it would cause me to worry too much if a problem was found

 

My theory is that it's better to go through a pregnancy just not knowing and expecting the very best. Regardless of an issue (and hopefully there isn't one), you hold your child and I think that is when the strength flows in.

[jenL]

Saying prayers for you. :grouphug:

[jentancalann]

Try to stay calm and don't worry. I have a friend who's baby's thumb bones measured short, indicating down's. Of course she was a bit panicky, but Leah is now a completely normal 6 year old, it was a completely false test result. My bit of advice is to stay off the google search. No good ever comes from internet searches in this situation. Praying for you and your situation...

[A home for their hearts]

Thank you everyone for all your prayers. I'm doing my best not to be too worried. It's reasurring to know that people have had these markers and their babies have turned out fine.

[Cera]

I will keep you in my thoughts. We had some questionable results with our second child and it was a long 3 weeks waiting for the amnio results to come back (everything was fine).

[*********]

Oh Stacy. :grouphug: Try not to worry. I'll be praying for you!

 

And congratulations!

[jazzyfizzle]

:grouphug: May the love, and so many positives in these posts flow to you. :grouphug:

[melmichigan]

I don't have time to read all the responses but wanted to add ourselves to the list who will be praying for you and your little one. I have actually heard of this a lot on the twins board I am on. Soft markers are only that, soft indicators. Being in health care myself I don't give them much weight.

[*Jessica*]

:grouphug:

[tuckabella]

I didn't have the same experience, but I also had them find something on my 20 week ultrasound with DS. I have to wait 6 weeks (!!!!) before they would do another ultrasound. I declined the invasive testing they offered in case it would be a detriment to the pregnancy. They thought they saw a choroid plexus cyst on his brain which would be something along the lines of Trisomy 18 or 21. That was a rough 6 weeks. In the end, we went for a higher resolution ultrasound at 26 weeks and they said everything should be fine, they couldn't find the cyst again. He was born healthy.

 

All that to say, they could be wrong. I am praying for you and your family. It will be a hard thing for the two of you to carry alone for now. So sorry you have to go through this.

[Mommy22alyns]

I know what it's like to get a rude shock at a mid-pregnancy routine ultrasound. Sylvia had choroid plexus cysts, and I was also diagnosed with placenta previa. I remember thinking, "If they tell me one more thing I will cry." Sylvia was born completely healthy. I'll be thinking of you guys. :grouphug:

[FlockOfSillies]

My doc saw two white spots on my dd6's heart, and sent me to the hi-res u/s doc. That guy said not to worry about them, but he put me on bedrest because her head was small. She was born healthy, the same size as my oldest.

[CactusPair]

I am so sorry for your stress and anxiety.

 

We also went through a great deal of anguish during our last pregnancy bec. of prenatal testing. I was esp. worried bec. I am of the dreaded AMA group.

 

Our baby is fine, though.

 

On babycenter.com they have an amnio support group. Not everyone who posts there actually decides to get an amnio, which is a deeply personal, complex decision. The mom who hosts the group is ***very*** well-versed in the different tests, markers, and risk statistics. I'm not sure how she knows all she does, but she is very supportive, helpful and kind. She decided against having the amnio herself. Her knowledge about prenatal subjects is impressive;you may want to consider dropping in on their site for support, info, and reassurance.

 

Peace and strength to you during this difficult time.:grouphug:

[iquilt]

First of all, prayers for you and your dh :). With our second child, the routine ultrasound at 19 weeks showed a possible hole in her spine that sent us directly to the genetic counselor who recommended that we not continue the pregnancy. We were shocked and would never do that so waited until 25 weeks for another ultrasound. No hole, no spina bifida and she just turned 6 last month. Ultrasounds are just another medical test in which false positives can scare people into all sorts of problems. Your doctor is right; at 31 your actual chances of Down's are very slim. HTH

[stripe]

I wish you and your baby all the best.

 

I have a young relative who was born with some sort of heart problem, although nothing related to Down syndrome, and while she continues to need care including various planned surgeries, there is an amazing amount that doctors can do to help with heart problems. A few years I read a book -- Choosing Naia: A Family's Journey by Mitchell Zuckoff -- about a couple who found out while pregnant that they were carrying a child with Down syndrome and with a heart problem, and they considered all their options (including abortion and giving the child up for adoption), but consulted with numerous specialists, and eventually did keep the child. She did require heart surgery but it was minor and has caused no problem since. One thing they found helpful was to know the sex of the fetus so they could imagine other qualities about her instead of ONLY the Down syndrome. They also had the time to learn about the condition. It was a very thoughtful book, not flip at all. I am sure there are other good books on the same topic.

[Jean too]

:grouphug: Praying for your family.

[Colleen in NS]

There is a young couple in our church - I'd say they are probably in their mid-30s - who have not one, but two Down's Syndrome children. I'm not positive, but I think they are their biological children. Anyway, these little girls are BEAUTIFUL. They are so friendly. Last week I was greeting people at the door, and one of the little girls tugged on my skirt because she was determined to get her handshake from me!! :D So I bent down and chatted with her for a minute and she was beaming.

 

Another couple in our church, in their early 40s, had a Down's Syndrome baby last year. When that little girl was 8 months old in June, she died suddenly at her doctor's office during a routine checkup. It turned out to be some type of underlying condition that wasn't known. But devastating nonetheless. Yet her short life left such a positive impact on so many people - the funeral was packed.

 

I also have an uncle with Down's. I just say all this to say that even if your baby does have Down's, he/she could turn out to be a blessing in disguise. To me, there is a special "something" about people with Down's.

 

:grouphug: to you during your time of non-privacy-wishing-you-could-talk-with-your-husband-and-process-with-him.