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[redhound]

I am currently 20 weeks pregnant and have gone through all the genetic screening known to man throughout this pregnancy. We had a quad screening, nuc. fold scan, and just recently, another 3d/4d ultrasound to detect fetal abnormalities. With the exception of the 20 week ultrasound, everything came back normal. I'm 29 and based on the earlier scans and bloodwork, I have a 1 in 10,000 chance of having a baby with a chromosomal disorder.

The 20 week ultrasound, however, showed one "soft marker" for Down's: an echogenic foci. Our doctor said that many doctors don't inform their patients of this finding because there is controversy in the med field over whether or not this isolated finding can be used to detect Down's in otherwise healthy, young, low risk patients. We opted out of the amnio our doctor offered on Friday because the chances of us having a miscarriage with the amnio are higher than having a baby with Down's.

From everything I've read since yesterday afternoon (after spending hours sobbing), it seems as there is a very slim chance we will have a baby with Down's. My husband and I have been trying to conceive for nearly three years, and were thrilled to get pregnant after being told we probably wouldn't conceive naturally. Thus, we did all this testing to be more informed if we ended up having a baby with severe issues...not to terminate (I don't judge others who make that decision, though).

I am a first year tt faculty member at a research 2. I love it here and work with very supportive faculty members who have young children. However, I am terrified at the prospect of raising a child with a disability while trying to pursue my career. Can anyone comment on their experiences trying to do so? I have an incredibly supportive spouse who is also employed at the same university, but who isn't a faculty member.

Many thanks for your responses in advance...

[bone_gal]

I'm sorry if I missed this in your post somewhere... but is there a reason you're not considering doing an amniocentesis? That is the only way to 100% know the chromosomes of your baby, the other screening tests just give statistical probabilities.  There are docs that do many of these procedures so the risk is low, and that way you know for sure what the situation is, rather than spending the rest of your pregnancy worrying about something that may or may not be. I had an amnio with my pregnancy last year (I was 37 at the time) because I knew I'd spend my pregnancy worrying about the very small chance that the baby had a chromosomal abnormality.

[finallyfullprof]

I have to agree with the amnio advice. If you truly want to be informed, you need to know up front. Once you have that information, you can then decide how to proceed.

Three of my colleagues have children with developmental disabilities. In all three instances, this led (at least in part) to divorce. Please don't take that as proof positive, but do be aware that it is a very stressful situation that can tax even the strongest of relationships. Happily, two of the three have remarried and have supportive spouses who serve as strong partners in parenting, which makes the academic side of things easier.

[mukimali]

Which type of machine was the ultrasound performed on?
One non-invasive option is to repeat the ultrasound with a better machine (type III) and an expert on such defects. Sometimes doctors do not agree on what they see on the screen. If they new diagnosis in same then I agree with the amnio advice. I have read somewhere that the 1:200 chance for a miscarriage from an amnio is a really old figure and that nowadays the chances are much lower. I would research that. I have heard that you can ask the doctor performing the amnio about their miscarriage rates ahead of time. In general, I think it is better to know than to worry!!! I spent 4 horrible weeks after a nuchal fold test showed a 1:10 chance for Edward's syndrome (trisomy of chromosome 18 and much worse than Down's syndrome). I do not even want to think of what kind of chemicals my baby was exposed to from the stress. The amnio showed everything was normal!!! Although it is not a fun experience, I think it is worth it.