EIF at 18 week level 2 ultrasound

Sorry to anyone on the other thread that I posted this on, but I’m hoping to get some input from lots of moms.

I had my 18 week level 2 ultrasound yesterday and this baby is another girl. 6 girls, 2 boys! That’s a lot of tampax and weddings!!! They found one soft marker for Down Syndrome - an EIF or bright spot (calcification) in her heart. The EIF itself does not present a problem, it is just correlated with DS. I have not done any other testing because I tend to stress (and here I go) and because the doctors agreed that just about anything that would need special care in the delivery room, etc, would be caught on the level 2 ultrasound. So this is definitely not an emergency, and I am thrilled that the baby appears to be very healthy, DS or not. [name]Just[/name] torn as to whether I should do further testing for DS. I’m old, which they remind me every visit, and with this marker there is a 1.19% chance that this tiny lady has DS. However, the miscarriage rate for the amnio is 1% and the blood test they recommend has a 10 - 15% false positive rate.
The doctor recommends more testing so that I can be prepared, and it has been on my mind much more than I thought it would, but I just still don’t want to. I mean, I totally get it when people want to know what to expect, etc and I totally respect people’s decisions to do testing - but for me, as a mom of teens and pre-teens, I’m pretty sure we are NEVER prepared for who our kids will be! :slight_smile: Any parents of people with DS that think preparation helped or didn’t help, etc?
Anyone else have an EIF? I think I saw someone on here had a false positive on the [name]Harmony[/name]?

I’m looking for honest input, but not a scolding for not doing earlier testing. I had a false positive for a lethal trisomy with my first baby and that was 19 years ago and we did not have the reliability we have now, so I spent the whole pregnancy waiting to lose him and he was born completely healthy, no trisomy at all.

The chance that she has DS sounds quite small and if you believe knowing for sure won’t help you prepare any differently, then decline the testing. I tend to agree with you that since the chance is so small…and I’d likely not do much different to prepare even if the chance were higher…besides reading and preparing myself for the potential options… I don’t know if I’d really need that definite answer. It sounds like you feel comfortable waiting until birth except it has been on your mind alot more than you thought it would… maybe that is because it is fresh news? Could you give it a week or two before making a decision?

I have not personally made this decision, but DH and I decline most genetic testing procedures because it would not alter our decisions regarding the pregnancy in any way. I do have ultrasounds though and would likely read and research if something was found during an ulrasound. If you do a google search for “Blessing of [name]Verity[/name]” you will find a blog of a mom who has a few DS children (one biological- 2 adopted)-- click on her entry on the sidebar that says “how it all started- verity’s story”- it is her original blog entry from when she found out she was expecting a DS child. I have not read other entries during that time period, but she may have some entries that talk about how they prepared for [name]Verity[/name]'s birth. That is my closest experience with learning of a child’s (in this case obvious/very likely) DS during an ultrasound. I’ve been reading this blog for a few years now.

I have no personal experience with this but I guess if I were put in that situation, I would want further testing. I would want to know. It depends on whether the news would change your outlook on the pregnancy or not. [name]Will[/name] you be perfectly okay with raising a DS child? If so, then I wouldn’t get the testing. The percentage is so low. I personally would have a very hard time raising a special needs child, and I would want to know definitely to be able to make the right decision for myself.

The positive thing to remember is that your daughter has a 99% chance of not having DS which are pretty favorable odds. I personally would steer clear of anything that risks the baby’s life (amnio) but that is just me. Good luck:)

I would also avoid further invasive procedures to test for DS. It sounds as though this test has prepared you for the possibility of having a baby with DS, and while it may be nice to know definitively, I personally would not want to take the risk. Best wishes, however, those odds are still very low, and even if you do have a baby with that syndrome, I’m sure with so many children already, you do not doubt the love that you will have for her, regardless.

I haven’t ever really been in this situation. I usually refuse testing, particularly risky ones, for what sounds like the same reasons that you do. Like pp said, there is a 98.5% chance that your baby won’t have DS. I personally would opt for the blood test since the marker came back on the u/s (this is your blood and not a risk to the pregnancy right?). That way you would be totally reassured if the test came back negative, and you’d be more prepared if it came back positive. In the end, you should really do what you think will make you most comfortable.

I’m so sorry you’re going through this…it’s so scary even when the odds aren’t terrible, any elevated risk sends your brain into disarray.

I did the materniT21 blood test following a quad screen that showed a 1 in 200 risk (again elevated but not awful odds at all) for Down’s syndrome. Not all insurances cover it because it is so new, but some will w/ soft marker/elevated risk noted. My doctor recommended it instead of anything invasive and it was the best decision I made, my results came back a week later showing all normal chromosomes.

I think [name]Harmony[/name] is very similar? Which test has such a high false positive rate? That sounds like the quad to me, these newer blood tests are extremely accurate from what I know about them.