Originally Posted by Junebug_CJ

Yes, this is correct.

I'm a medical geneticist, this is what I do for a living.

The answer is very personal, and depends on what a person/couple is willing to accept. Some don't want any testing at all because termination is against their religion or morals. Some don't want to give birth to a child with chromosomal problems because the health issues would be a burden to the child. Some just want to know to be ready, without the intention of pregnancy termination. All of these are acceptable answers. There is NO RIGHT ANSWER, only what you as a couple are comfortable with.

Personally, I am having CVS. I'm also 36 years old. I am a doctor to children and adults with chromosomal problems and would not want to put a child through that: that is our personal opinion and we made the decision to not continue an affected pregnancy. Everyone has the right to make the decision that feels right for them. My early scan showed an umbilical cord cyst, which is associated with a 1/10 chance of chromosomal problems, significantly higher than my 1/188 age-related risk... So definitely doing invasive testing at this point.

In my experience, ultrasound picks up only the cases of chromosomal abnormalities associated with major organ malformation. 50% of Down's babies will have heart defects, which most likely will be picked up, but a significant proportion of them will be missed. There are 1st and second trimester screening tests, which allow a readjustment of your age related risk. At 36, your risk of a chromosomal abnormality is 1/188, which is really small when you think of it. The screening tests (nuchal translucency and blood tests) will readjust the risk, either increasing it or decreasing it. Depending on the outcome, you could then decide to pursue invasive testing if the risk is increased. Have these been offered to you? If not, definitely worth asking your doctor about!!!

Hope this helps, PM me if you want to chat more...

CJ