Ultrasound Result...Echogenic Foci

[BJB2B]

So I posted yesterday that at our 20 week sonogram appt we found out we are having a little girl :) We had our follow up appt with the doctor yesterday and after telling us everything looked great she did mention that the ultrasound showed a bright spot on the baby's heart or echogenic foci. She said that she was not overly concerned since everything else looked great but that it can be an indicator of Down's syndrome, Trisomy 13, and Trisomy 18. I'm REALLY trying to be optimistic but I'm having a hard time not being worried. Just curious if any of you have experienced this?

[BJB2B]

Thank you so much for your response. Between reading this and researching it as much as I can, I do feel a little more at ease. My doctor has referred us to a high risk doctor (2 hours away) for a more in depth sonogram and genetic counseling. We have that appointment tomorrow and although I'm nervous, as expected, I really do feel that everything will be just fine. As you and the docotors have said, Everything else on the sonogram looked perfect and she is measuring right on schedule. We have declined the amino at this point due to the fact that I was put on bed rest with my DS due to pre term labor. We don't want to take any chances :)

[martikadragoon]

congrats on your baby girl!~

my son has down syndrome, so I know a little something about soft markers from reasearch. (I'm 22 by the way..)

The Echogenic Foci is a soft marker that is very common. it actually occurs in many babies, not just those with genetic issues, but it's been found to be a little more common in those with a trisome.

There are plenty of babies who DO have the EF and are fine.

Your doctor will probably want to do another, more detailed ultrasound unless it was done yesterday. They can look for other markers, for trisome 18 they look at things like the hands being curled closed because a baby with T18 can't open them, they also look at the leg bones and the circumfrence of the head and abdomen to see if baby is growing fine. most trisomes have issues with the baby's growth and it will be behind in some areas.

most likely, if your daughter has or if they suspect a genetic problem, they'd have found more than 1 soft marker. a single marker is nothing to worry about since plenty of babies have a single marker that means nothing. Some babies even have 2 or 3 markers and that's just what they are... markers it doesn't mean baby has it.

I say don't worry. Focus on the fact that your having a beautiful baby girl and enjoy your pregnancy. If you are still worried you can always request another in depth ultrasound to check for markers, or even an amnio (i don't suggest the amnio since you only have 1 marker...)

ttyl and hope this helps.

Cindie