I had the fetal echocardiogram (ultrasound of the heart) today and subsequently a meeting with a genetic counselor. Apparently my baby's heart is just fine and normal (the cardiologist said there was NO effusion, contrary to the sonologist's finding). BUT he confirmed that there was an echogenic intracardial focus (looks like a bright spot on the heart), which in and of itself is found in normal babies BUT can also be found in 20% of babies with Down Syndrome. He told me not to worry about it... he sees them all the time.
However, I had to see the genetic counselor anyway because at my MW appointment yesterday I learned my U/S showed the EIC AND another soft or weak marker (choroid plexus cyst) that in the low-risk population (under 35, no previous history of chromosomal abnormality, etc) doesn't mean anything. However, since I had *two* soft markers instead of just one, I had to see the counselor. The counselor explained that thanks to a first trimester screening I agreed to have (maternal triple screening), my chances (before the marker findings) of having a chromosomal abnormal child were 1 in 8,250 for Down Syndrome and 1 in more than 10,000 for Trisomy 18 -- the two syndromes the soft markers sometimes indicate (actually, one marker is for Down syndrome and the other for Trisomy 18, not both for both if that makes sense).
There was NOTHING else in my U/S (hard markers like heart defects or other indicators like small head/brain development, clenched hands, rocker-bottom feet) that indicated anything but a normal happy baby, but still, I had to listen to all the statistics and decide whether I wanted an amnio, where the chances of M/C are 1 in 200. My gut told me to skip it, and when the head director of the u/s unit came in and said: your baby is fine, your markers bump you up only slightly to 1 in 7,400 for DS and 1 in 9,000 for Tr18 -- not nearly enough to outweigh the risk of the amnio, in his opinion. So the husband and I decided AGAINST the amnio... What a day!
BTW: The first person who knows where the title of my post comes from gets a special cyberhug!
Paul Simon song?
Posted by: Katy | July 16, 2004 at 05:56 PM
Yes, Katy! It was on our wedding CD :-)
Posted by: Sandie | July 16, 2004 at 07:14 PM
so sorry you had to go through all of that! sounds like you guys are okay...can't wait to meet the next member of your family.
take care, pache
Posted by: patience | July 16, 2004 at 08:28 PM
Sometimes I wonder if all the technological advances surrounding pregnancy are worth it given the statistical uncertainty surrounding it all. Hope you will be able to enjoy the rest of your pregnancy in peace and happiness!
Posted by: Lei | July 17, 2004 at 12:26 AM
If I recall correctly, there are 7-8 markers for Down Syndrome. Having 2 soft markers means your odds are excellent that all is fine. My friend had the same 2 soft markers and had a perfectly healthy baby boy just last month. Hey, there are no guarantees, but hopefully it's at least comforting knowing the odds are with you. I'll keep your little bean in my prayers, Sandie.
Posted by: Toni | July 17, 2004 at 12:55 PM
Those sound like pretty great odds to me- it stinks that you had to go through all the statistical junk, but it seems like overall the news is reassuring. I can't believe you're already more than halfway there!
Posted by: bre | July 18, 2004 at 02:46 AM
Thanks ladies. I totally agree that the technology can sometimes make things worse. I think a great deal has to do with malpractice and CYA. I am just glad that the markers were "weak" and that the baby is OK.
Posted by: Sandie | July 18, 2004 at 11:20 PM
Sandie, I am so glad your baby is healthy!
Posted by: Sarah | July 19, 2004 at 11:11 AM
Modern technology has brought a down side to our lives, causing needless worry sometimes. Blessings on you Sandie and your sweet baby.YFGH
Posted by: YFGH | July 31, 2004 at 08:54 AM