This is the only marker I have for down syndrome as far as I know. My ob says I shouldn't worry because it is pretty common in asians and its just mentioned for liability issues. My AFP came back negative and I'm only 25 yrs old so statistics are on my side. I was told 1/5000 but before the echogenic focus was found it was 1/10000 which I don't understand - an echogenic focus cut it in half? I'm worried because when I was 13 wks and 5 days I had bleeding and was told could be a threatened miscarriage and of course most miscarriages are results of abnormalities/birth defects. I read so many forums and answers that says their babies turned out fine with just that one echogenic focus marker but was wondering if anybody's outcome was that their baby did turn out to have down syndrome with just this 1 marker....
My first had an echogenic focus also. The doctor told me that 10% of babies do & they are as common as blue eyes. They told me it was nothing to worry about & it would resolve on it's own. An echogenic focus alone shouldn't be cause for concern.
see if you dr can recommend or refer you to a genetics dept at the hostital. I had my quad screen come back as slightly on the high side of normal for trisomy 18 which I think downs is the 21st gene and we wanted to be sure with out doing an amnio. They were a big help and I could sleep at night without worring too much.
I work in OB (I am a nurse-midwife) and while these echogenic focii are very common, one marker alone rarely is associated with down syndrome. I had this in my own pregnancy as well as seeing it very often in my patients' records. Especially in Asian patients- I think it is around 10%.
In the past these spots were not diagnosed because we didn't have the ultrasound technology and didn't use ultrasound as often. Now we are able to see and diagnose them but not tell if they are significant or not.
Personally I would never have an amnio for this (I don't think it was offered to me at the time, either). To me the risk of losing the pregnancy far outweighs the benefit of the test.
Oh I've been here and it is scary. Both of my AFP tests came back that each of my children had a 30% chance of having DS...both are fine. I think that if you're dr is not worried, than you shouldn't..however if you'd like to be 100% sure, go ahead and request an amnio..I had them with both of my boys (more so I could confirm and prepare for whatever the test said for when they were born so it was not a surprise on birthing day).
Also, with my second son, I bled in my 2 or 3 mth, can't remember which, but I actually ended up loosing a twin...I now have a healthy, rambuctious 2 1/2 year old.. it's scary going thru all of this I know.
Good luck
K.
Updated
I just found this on line
Echogenic intracardiac focus (EIF) is a small bright spot seen in the baby’s heart on an ultrasound exam. This is thought to represent mineralization, or small deposits of calcium, in the muscle of the heart. EIFs are found in about 3-5% of normal pregnancies and cause no health problems.
EIFs themselves have no impact on health or heart function. Often the EIF is gone by the third trimester. If there are no problems or chromosome abnormalities, EIFs are considered normal changes, or variants.
Well, one way to find out for sure is to have an amniocentesis. Some people on here who seem to have some other agenda cite statistics from the early 80s about miscarraige rates from amnios, but they're actually less than 1% these days. Most OB offices have one or two doctors who do all their amnios and are very skilled at them. The test will tell you 100% one way or another if your baby has Down's Syndrome (and you're far enough along to have it done). That way you can prepare and your doctors can prepare if any special precautions need to be taken at the birth. It sounds like it's highly unlikely that your baby DOES have Down's though -but I would want to know for sure.
I work in the NICU. (I'm a neonatal nurse practitioner). I agree with Courtney. One echogenic focus is not associated with a syndrome. I have been working long enough in this field to see how much the technology has improved. We now see things we never saw before. A lot of these things are normal variations and mean nothing for how the fetus/baby will do. You could ask for an amniotic, but I am not sure that you qualify (risks do not out weigh the benefits). At 25 yrs old and an echogenic focus the odds of a genetic problem are still very low. Good luck!
