Friday, September 10, 2004

info on the "echo" my doctor referred too...

I tried to do some research yesterday as soon as I had a chance on this "echo" my ob referred to on the ultrasound. The only thing I could really find was about echocardiograms which basically is the ultrasound of the heart. Well, someone from the Incompetent Cervix support group I recently joined (online) turned me on to the actual name they are probably referring too. It's called an echogenic focus - a bright spot (or echo) in the heart on the ultrasound.

Here is a great site that explains it in easy terms and has a good ultrasound image showing the "echo".

http://www.medfriendly.com/echogeniccardiacfoci.html#whatisit

I got a lot of relief from this because it's very common for these echoes to show up on 2nd trimester ultrasounds but it also talked a lot about the possibility of Down Syndrome. I admit, I broke down for a few minutes. It's just so heartbreaking to think of the possibilities. I was trying so hard to convince myself that even if it was a chromosome defect that it didn't necessarily mean any form of retardation. I just don't know that much about it and I was hoping against hope that chromosome damage doesn't always mean retardation. And I don't think that it does but all the reading I've done on this particular condition, they only talked about Down Syndrome.

I truly do not intend to and hope I don't offend anyone who does know of or live with that kind of handicap when I express my fears. Ken and I both have Celerbal Palsy in our families. I've never told my sister-in-law this but I admire her for all she's done for my niece. I admire her strength. It's like I said before that you just never know how or if you can handle these types of things until or if they happen to you. I know I will find the strength yet I feel guilty for hoping that I don't have too.

Anyway, I also found some posts on another message board where people had an echo show on their ultrasounds too and everything turned out fine. They are very informative so I'm including a couple below. I already knew before this that a lot of these genetic or abnormality tests are very unreliable and inconclusive. That is part of the reason we turned them down. I turned down the amnio because of the significant risk of miscarriage and also turned down the Alpha Feta Protein blood test because of the high number of false positives. I also didn't want to have to go through the rest of my pregnancy stressing out about something I couldn't change. Yet here I am doing that same thing.

Still trying to stay positive and keep my mind off of it 'til the test.

Here are those stories of other people's cases...(these were not posted to me, they were posted to someone else at some point who went through the same thing).

"...just went through your very same experience. I was told at 21 weeks that my baby had an Echogenic Focus of the Left Ventricle. My OB was not concerned and said it is a very common finding and sent me to a Perinatologist to do a level 2 U/S. The Peri saw absolutely nothing and told me that the original U/S could have just been on a weird setting that day. The Peri and the OB both told me that this does not indicate D/S and with it being the only thing that was possibly seen on the 1st. U/S they didn't even feel the need for an amnio, which my husband and I would have rejected anyway because we would never terminate the pregnancy regardless of the outcome and the risk of miscarriage and infection are pretty high with amnio. I am 31 years old and this is my 3rd. baby. I am confident that your baby will be fine if this was the only thing they saw. I cried for three weeks waiting for my appt. with the Peri, please try to relax and take care of your pregnancy. I know first hand how scary it is to be told that there may be something wrong, but know that God is in control. My Peri told me that the U/S tech. should never say what the possibilities are especially when this is the only marker. I will be praying for you, your baby and your husband. Hang in there, you will end up very happy in a few months. ...".

"...know what your going through. At 19 weeks they also saw an echogenic focus on my baby's heart. My triple screen came back normal too and my doctor did not advise an amnio (I am 28 yrs. old) She told me her group sees this with some degree of frequency in their patients. She currently had 5 other women with this besides me. At my 28 week ultrasound they could not find the EIF. I visit this site often because it is positive and I have not read one story about EIF being the only marker and a baby having a chromosomal defect. If your doctor feels good about things that's a good sign. Read the old posts on here too and you will feel better. Good luck. ...".

"...My baby had an ECF in her left ventricle at my 18 week ultrasound. I was 34 at the time and no other markers were present. I didn't have an AFP or an amnio but did worry for the rest of my pregnancy. I had genetic counseling and there was a lot of doom and gloom about Down Syndrome presented to me and my husband which was so unnecessary. It caused us so much anguish.

My daughter is 11 months now and perfectly healthy. I am now pregnant with my third child and if my ultrasound shows up an ECF, I definitely won't worry this time. ...".

I'm adding this on 09/13/04 after a response on the message boards over the weekend...

"...I have a very good friend who also as told at her 20 week sono that the baby had this spot on his heart. They told her that sometimes this is seen in babies with downs, but not always. They did not find any other problems that would cause them to suspect a chromosome defect. (thick nuchal fold, SGA ect..) The spot on the heart continued to show up on all subsequent sono's. Her doc told her that from his experience, the spot ended up being nothing more times than it was a problem. She delivered a 8# 7oz healthy baby boy 2 days ago. He does not have any heart problems or anything. I will keep you in my prayers. ..."

Here is just another brief explanation and doctor's thoughts...

Intracardiac Echogenic Focus

Increased echogenicity (a bright echo) of the fetal cardiac papillary muscles or chordae tendineae (usually left-sided) is seen in 3 to 5% of fetuses scanned and is considered by most investigators to be a benign ultrasound finding. Reports of Bromley et al and others, however, have suggested that there is an association between this finding and trisomy 21 (Down Syndrome). This group found that 6% of fetuses with an echogenic intracardiac focus had trisomy 21. They estimated that in a low risk population with an age adjusted risk of Down syndrome of 1/250, the presence of an intracardiac echogenic focus would have a 1.5% predictive value for trisomy 21 (Down Syndrome). However, other investigators (including data from SJMMC) have not been able to find a statistically significant association between isolated echogenic foci in the fetal heart and chromosomal abnormalities. Further research in this area still needs to be done to clarify the significance of Intracardiac echogenic foci.

I'll definitetly keep you all posted.

Lilypie Baby Days

2 comments:

Christine said...

I'm so glad you did some research to find more out about this. It has to be a little more comforting to know others have been in your place and have escaped unscathed.

I don't think anybody will take offense to your fears. We all want our children to be healthy. Most of us just worry about it because while the baby is growing inside us we don't really knows what's going on in there. Most of us don't usually experience this scare you are going through right now. I think we all said a little prayer during our pregnancies hoping for a child without a birth defect or abnormality. That doesn't mean that we would love our child any less should he or she emerge with a disability. Just means we are hoping for the best for now and will deal with the unexpected later.

As you know, Caleb was born with a cleft lip (which is the fourth most common birth defect). It really threw us for a loop when he was born, but in the scope of all things that could happen in a pregnancy I considered it to be pretty minor. However, I still scoured the internet for all of the information I could find. In that search I found a great website that I still visit quite frequently (in fact I am a pathfinder and help local families who are suprised by a cleft). That site is www.cleftadvocate.org. The woman who runs that site (Debbie Oliver) has compiled quite a few passages of inspiration. One of my favorites is by Emily Perl Kingsley. I've pasted it below, not because I think you will need this inspiration because I still believe that everything is A-Ok with your little Nicholas. But I did want to share it in response to your comment about hopefully not offending anybody. As Ms. Kingsley points out, even parents of a child with a disability, once wished for a child without a disability.


I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans.

The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ...

about Holland.

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